Total: 723166 genomic variation-disease records
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- RCV000002066 - NM_144966.5(FREM1):c.1945C>T (p.Arg649Trp) AND Bifid nose with or without anorectal and renal anomalies / Pathogenic
- RCV000002068 - NM_182896.2(ARL13B):c.236G>A (p.Arg79Gln) AND Joubert syndrome 8 / Pathogenic
- RCV000002073 - NM_199242.2(UNC13D):c.1828_1839del (p.Arg610_Gln613del) AND Hemophagocytic lymphohistiocytosis, familial, 3 / Pathogenic
- RCV000002080 - NM_199242.2(UNC13D):c.2570T>G (p.Phe857Cys) AND Hemophagocytic lymphohistiocytosis, familial, 3 / Pathogenic
- RCV000002085 - SGCG, 1-BP INS, 87T AND Severe autosomal recessive muscular dystrophy of childhood - North African type / Pathogenic
- RCV000002087 - NM_001134831.1(AHI1):c.1051C>T (p.Arg351Ter) AND Joubert syndrome 3 / Pathogenic
- RCV000002092 - NM_001134831.1(AHI1):c.2168G>A (p.Arg723Gln) AND Joubert syndrome 3 / Pathogenic/Likely pathogenic
- RCV000002100 - NM_017780.3(CHD7):c.3082A>G (p.Ile1028Val) AND CHARGE association / Pathogenic
- RCV000002105 - NM_017780.3(CHD7):c.6955C>A (p.Arg2319Ser) AND CHARGE association / Pathogenic
- RCV000002107 - NM_017780.4(CHD7):c.5752dup (p.Thr1918Asnfs) AND CHARGE association / Pathogenic
- RCV000002119 - NM_133263.3(PPARGC1B):c.607G>C (p.Ala203Pro) AND Obesity, variation in / association
- RCV000002124 - NM_032146.5(ARL6):c.509T>G (p.Leu170Trp) AND Bardet-Biedl syndrome 3 / Pathogenic
- RCV000002131 - NM_152443.2(RDH12):c.184C>T (p.Arg62Ter) AND Leber congenital amaurosis 13 / Pathogenic
- RCV000002136 - NM_152443.2(RDH12):c.295C>A (p.Leu99Ile) AND Leber congenital amaurosis 13 / Pathogenic
- RCV000002138 - NM_152443.2(RDH12):c.152T>A (p.Ile51Asn) AND Leber congenital amaurosis 13 / Pathogenic
- RCV000002143 - NM_001002255.1(SUMO4):c.163G>A (p.Val55Met) AND Diabetes mellitus, insulin-dependent, 5 / risk factor
- RCV000002150 - NM_018100.3(EFHC1):c.776G>A (p.Cys259Tyr) AND Epilepsy juvenile absence / risk factor
- RCV000002155 - NM_020435.3(GJC2):c.718C>T (p.Arg240Ter) AND Leukodystrophy, hypomyelinating, 2 / Pathogenic
- RCV000002157 - NM_020435.3(GJC2):c.914_947del (p.Pro305Argfs) AND Leukodystrophy, hypomyelinating, 2 / Pathogenic
- RCV000002162 - NM_000159.3(GCDH):c.883T>C (p.Tyr295His) AND Glutaric aciduria, type 1 / Pathogenic