ClinVar for MedGen (Select 98475) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3075713	NM_015139.3(SLC35D1):c.919T>A (p.Tyr307Asn)	SLC35D1 (Y307N)	Single nucleotide variant (missense variant)	Schneckenbecken dysplasia	GLikely pathogenic
Select item 2990593	NM_015139.3(SLC35D1):c.366G>A (p.Thr122=)	SLC35D1	Single nucleotide variant (synonymous variant)	Schneckenbecken dysplasia	GLikely benign
Select item 2982016	NM_015139.3(SLC35D1):c.192C>T (p.Leu64=)	SLC35D1	Single nucleotide variant (synonymous variant)	Schneckenbecken dysplasia	GLikely benign
Select item 2965148	NM_015139.3(SLC35D1):c.959+7A>G	SLC35D1	Single nucleotide variant (intron variant)	Schneckenbecken dysplasia	GLikely benign
Select item 2912167	NM_015139.3(SLC35D1):c.830C>T (p.Thr277Met)	SLC35D1 (T277M)	Single nucleotide variant (missense variant)	Schneckenbecken dysplasia	GUncertain significance
Select item 2904386	NM_015139.3(SLC35D1):c.877-14A>G	SLC35D1	Single nucleotide variant (intron variant)	Schneckenbecken dysplasia	GLikely benign
Select item 2865463	NM_015139.3(SLC35D1):c.393-5_393-4del	SLC35D1	Deletion (intron variant)	Schneckenbecken dysplasia	GLikely benign
Select item 2858308	NM_015139.3(SLC35D1):c.948T>C (p.Gly316=)	SLC35D1	Single nucleotide variant (synonymous variant)	Schneckenbecken dysplasia	GLikely benign
Select item 2840274	NM_015139.3(SLC35D1):c.203+19C>T	SLC35D1	Single nucleotide variant (intron variant)	Schneckenbecken dysplasia	GLikely benign
Select item 2834295	NM_015139.3(SLC35D1):c.465-4G>A	SLC35D1	Single nucleotide variant (intron variant)	Schneckenbecken dysplasia	GLikely benign
Select item 2811534	NM_015139.3(SLC35D1):c.730-5T>G	SLC35D1	Single nucleotide variant (intron variant)	Schneckenbecken dysplasia	GLikely benign
Select item 2806979	NM_015139.3(SLC35D1):c.464+17A>G	SLC35D1	Single nucleotide variant (intron variant)	Schneckenbecken dysplasia	GLikely benign
Select item 2804828	NM_015139.3(SLC35D1):c.465-20T>A	SLC35D1	Single nucleotide variant (intron variant)	Schneckenbecken dysplasia	GLikely benign
Select item 2787617	NM_015139.3(SLC35D1):c.324+18A>G	SLC35D1	Single nucleotide variant (intron variant)	Schneckenbecken dysplasia	GLikely benign
Select item 2781334	NM_015139.3(SLC35D1):c.157T>G (p.Ser53Ala)	SLC35D1 (S53A)	Single nucleotide variant (missense variant)	Schneckenbecken dysplasia	GUncertain significance
Select item 2741933	NM_015139.3(SLC35D1):c.464+19A>G	SLC35D1	Single nucleotide variant (intron variant)	Schneckenbecken dysplasia	GLikely benign
Select item 2730785	NM_015139.3(SLC35D1):c.78G>A (p.Glu26=)	SLC35D1	Single nucleotide variant (synonymous variant)	Schneckenbecken dysplasia	GLikely benign
Select item 2724877	NM_015139.3(SLC35D1):c.465-17A>C	SLC35D1	Single nucleotide variant (intron variant)	Schneckenbecken dysplasia	GLikely benign
Select item 2719084	NM_015139.3(SLC35D1):c.637-8T>C	SLC35D1	Single nucleotide variant (intron variant)	Schneckenbecken dysplasia	GLikely benign
Select item 2711672	NM_015139.3(SLC35D1):c.596C>T (p.Ala199Val)	SLC35D1 (A199V)	Single nucleotide variant (missense variant)	Schneckenbecken dysplasia	GUncertain significance
Select item 2415561	NM_015139.3(SLC35D1):c.325-9A>T	SLC35D1	Single nucleotide variant (intron variant)	Schneckenbecken dysplasia	GLikely benign
Select item 2195187	NM_015139.3(SLC35D1):c.705G>A (p.Ala235=)	SLC35D1	Single nucleotide variant (synonymous variant)	Schneckenbecken dysplasia	GLikely benign
Select item 2189374	NM_015139.3(SLC35D1):c.892T>C (p.Tyr298His)	SLC35D1 (Y298H)	Single nucleotide variant (missense variant)	Schneckenbecken dysplasia	GUncertain significance
Select item 2187415	NM_015139.3(SLC35D1):c.757A>G (p.Thr253Ala)	SLC35D1 (T253A)	Single nucleotide variant (missense variant)	Schneckenbecken dysplasia	GUncertain significance
Select item 2174781	NM_015139.3(SLC35D1):c.393-7T>A	SLC35D1	Single nucleotide variant (intron variant)	Schneckenbecken dysplasia	GLikely benign
Select item 2173297	NM_015139.3(SLC35D1):c.729+12T>C	SLC35D1	Single nucleotide variant (intron variant)	Schneckenbecken dysplasia	GLikely benign
Select item 2166967	NM_015139.3(SLC35D1):c.51C>A (p.Pro17=)	SLC35D1	Single nucleotide variant (synonymous variant)	Schneckenbecken dysplasia	GLikely benign
Select item 2166182	NM_015139.3(SLC35D1):c.976G>T (p.Val326Leu)	SLC35D1 (V326L)	Single nucleotide variant (missense variant)	Schneckenbecken dysplasia	GUncertain significance
Select item 2162146	NM_015139.3(SLC35D1):c.139G>A (p.Gly47Ser)	SLC35D1 (G47S)	Single nucleotide variant (missense variant)	Schneckenbecken dysplasia	GUncertain significance
Select item 2155648	NM_015139.3(SLC35D1):c.169G>A (p.Val57Met)	SLC35D1 (V57M)	Single nucleotide variant (missense variant)	Schneckenbecken dysplasia	GUncertain significance
Select item 2143989	NM_015139.3(SLC35D1):c.927C>T (p.Phe309=)	SLC35D1	Single nucleotide variant (synonymous variant)	Schneckenbecken dysplasia	GLikely benign
Select item 2130950	NM_015139.3(SLC35D1):c.221G>A (p.Cys74Tyr)	SLC35D1 (C74Y)	Single nucleotide variant (missense variant)	Schneckenbecken dysplasia	GUncertain significance
Select item 2128628	NM_015139.3(SLC35D1):c.412C>G (p.Leu138Val)	SLC35D1 (L138V)	Single nucleotide variant (missense variant)	Schneckenbecken dysplasia	GUncertain significance
Select item 2122225	NM_015139.3(SLC35D1):c.315A>T (p.Val105=)	SLC35D1	Single nucleotide variant (synonymous variant)	Schneckenbecken dysplasia	GLikely benign
Select item 2115581	NM_015139.3(SLC35D1):c.876+5G>A	SLC35D1	Single nucleotide variant (intron variant)	Schneckenbecken dysplasia	GUncertain significance
Select item 2097701	NM_015139.3(SLC35D1):c.237+5G>C	SLC35D1	Single nucleotide variant (intron variant)	Schneckenbecken dysplasia	GUncertain significance
Select item 2086612	NM_015139.3(SLC35D1):c.203+19C>A	SLC35D1	Single nucleotide variant (intron variant)	Schneckenbecken dysplasia	GLikely benign
Select item 2053801	NM_015139.3(SLC35D1):c.111G>A (p.Leu37=)	SLC35D1	Single nucleotide variant (synonymous variant)	Schneckenbecken dysplasia	GLikely benign
Select item 2048933	NM_015139.3(SLC35D1):c.209C>A (p.Pro70His)	SLC35D1 (P70H)	Single nucleotide variant (missense variant)	Schneckenbecken dysplasia	GUncertain significance
Select item 2044131	NM_015139.3(SLC35D1):c.1007A>C (p.Gln336Pro)	SLC35D1 (Q336P)	Single nucleotide variant (missense variant)	Schneckenbecken dysplasia	GLikely benign
Select item 2005679	NM_015139.3(SLC35D1):c.64_70del (p.Thr22fs)	SLC35D1 (T22fs)	Deletion (frameshift variant)	Schneckenbecken dysplasia	GPathogenic
Select item 1988954	NM_015139.3(SLC35D1):c.959+9_959+11del	SLC35D1	Deletion (intron variant)	Schneckenbecken dysplasia	GLikely benign
Select item 1985597	NM_015139.3(SLC35D1):c.255A>G (p.Ala85=)	SLC35D1	Single nucleotide variant (synonymous variant)	Schneckenbecken dysplasia	GLikely benign
Select item 1979010	NM_015139.3(SLC35D1):c.637-11T>C	SLC35D1	Single nucleotide variant (intron variant)	Schneckenbecken dysplasia	GLikely benign
Select item 1965028	NM_015139.3(SLC35D1):c.244G>T (p.Ala82Ser)	SLC35D1 (A82S)	Single nucleotide variant (missense variant)	Schneckenbecken dysplasia	GUncertain significance
Select item 1960540	NM_015139.3(SLC35D1):c.605G>C (p.Gly202Ala)	SLC35D1 (G202A)	Single nucleotide variant (missense variant)	Schneckenbecken dysplasia	GUncertain significance
Select item 1950900	NM_015139.3(SLC35D1):c.465-9del	SLC35D1	Deletion (intron variant)	Schneckenbecken dysplasia	GLikely benign
Select item 1921628	NM_015139.3(SLC35D1):c.189G>A (p.Val63=)	SLC35D1	Single nucleotide variant (synonymous variant)	Schneckenbecken dysplasia	GLikely benign
Select item 1903841	NM_015139.3(SLC35D1):c.738G>T (p.Glu246Asp)	SLC35D1 (E246D)	Single nucleotide variant (missense variant)	Schneckenbecken dysplasia	GUncertain significance
Select item 1902611	NM_015139.3(SLC35D1):c.654A>G (p.Gly218=)	SLC35D1	Single nucleotide variant (synonymous variant)	Schneckenbecken dysplasia	GLikely benign
Select item 1717998	NM_015139.3(SLC35D1):c.431T>A (p.Leu144Gln)	SLC35D1 (L144Q)	Single nucleotide variant (missense variant)	Schneckenbecken dysplasia	GUncertain significance
Select item 1714849	NM_015139.3(SLC35D1):c.845C>A (p.Ala282Asp)	SLC35D1 (A282D)	Single nucleotide variant (missense variant)	Schneckenbecken dysplasia	GUncertain significance
Select item 1702487	NM_015139.3(SLC35D1):c.98C>T (p.Ser33Leu)	SLC35D1 (S33L)	Single nucleotide variant (missense variant)	Connective tissue disorder +2 more	GUncertain significance
Select item 1702486	NM_015139.3(SLC35D1):c.930G>A (p.Thr310=)	SLC35D1	Single nucleotide variant (synonymous variant)	Connective tissue disorder +1 more	GConflicting classifications of pathogenicity
Select item 1671409	NM_015139.3(SLC35D1):c.393-17A>G	SLC35D1	Single nucleotide variant (intron variant)	Schneckenbecken dysplasia	GLikely benign
Select item 1640797	NM_015139.3(SLC35D1):c.729+18C>T	SLC35D1	Single nucleotide variant (intron variant)	Schneckenbecken dysplasia	GLikely benign
Select item 1624098	NM_015139.3(SLC35D1):c.465-5T>C	SLC35D1	Single nucleotide variant (intron variant)	Schneckenbecken dysplasia	GLikely benign
Select item 1619841	NM_015139.3(SLC35D1):c.203+12G>T	SLC35D1	Single nucleotide variant (intron variant)	Schneckenbecken dysplasia	GBenign
Select item 1618251	NM_015139.3(SLC35D1):c.15T>C (p.His5=)	SLC35D1	Single nucleotide variant (synonymous variant)	Schneckenbecken dysplasia +1 more	GLikely benign
Select item 1607226	NM_015139.3(SLC35D1):c.108G>A (p.Thr36=)	SLC35D1	Single nucleotide variant (synonymous variant)	Schneckenbecken dysplasia	GLikely benign
Select item 1606802	NM_015139.3(SLC35D1):c.393-5dup	SLC35D1	Duplication (intron variant)	Schneckenbecken dysplasia	GBenign/Likely benign
Select item 1586447	NM_015139.3(SLC35D1):c.238-4A>G	SLC35D1	Single nucleotide variant (intron variant)	Schneckenbecken dysplasia	GLikely benign
Select item 1581634	NM_015139.3(SLC35D1):c.612C>T (p.Tyr204=)	SLC35D1	Single nucleotide variant (synonymous variant)	Schneckenbecken dysplasia	GLikely benign
Select item 1571420	NM_015139.3(SLC35D1):c.816C>A (p.Ala272=)	SLC35D1	Single nucleotide variant (synonymous variant)	Schneckenbecken dysplasia	GLikely benign
Select item 1564980	NM_015139.3(SLC35D1):c.1047T>C (p.Ile349=)	SLC35D1	Single nucleotide variant (synonymous variant)	Schneckenbecken dysplasia	GLikely benign
Select item 1559488	NM_015139.3(SLC35D1):c.464+14C>A	SLC35D1	Single nucleotide variant (intron variant)	Schneckenbecken dysplasia	GLikely benign
Select item 1540454	NM_015139.3(SLC35D1):c.877-17A>G	SLC35D1	Single nucleotide variant (intron variant)	Schneckenbecken dysplasia	GLikely benign
Select item 1533836	NM_015139.3(SLC35D1):c.203+20G>A	SLC35D1	Single nucleotide variant (intron variant)	Schneckenbecken dysplasia	GLikely benign
Select item 1528202	NM_015139.3(SLC35D1):c.797+16C>T	SLC35D1	Single nucleotide variant (intron variant)	Schneckenbecken dysplasia	GBenign
Select item 1516538	NM_015139.3(SLC35D1):c.50C>T (p.Pro17Leu)	SLC35D1 (P17L)	Single nucleotide variant (missense variant)	Schneckenbecken dysplasia	GUncertain significance
Select item 1514485	NM_015139.3(SLC35D1):c.955A>G (p.Ile319Val)	SLC35D1 (I319V)	Single nucleotide variant (missense variant)	Schneckenbecken dysplasia	GUncertain significance
Select item 1499652	NM_015139.3(SLC35D1):c.464+1G>C	SLC35D1	Single nucleotide variant (splice donor variant)	Schneckenbecken dysplasia	GLikely pathogenic
Select item 1488552	NM_015139.3(SLC35D1):c.20G>T (p.Arg7Leu)	SLC35D1 (R7L)	Single nucleotide variant (missense variant)	Schneckenbecken dysplasia	GUncertain significance
Select item 1461527	NM_015139.3(SLC35D1):c.759C>T (p.Thr253=)	SLC35D1	Single nucleotide variant (synonymous variant)	Schneckenbecken dysplasia	GLikely benign
Select item 1445889	NM_015139.3(SLC35D1):c.325-3T>C	SLC35D1	Single nucleotide variant (intron variant)	Schneckenbecken dysplasia	GUncertain significance
Select item 1438609	NM_015139.3(SLC35D1):c.275C>T (p.Ala92Val)	SLC35D1 (A92V)	Single nucleotide variant (missense variant)	Schneckenbecken dysplasia	GUncertain significance
Select item 1413663	NM_015139.3(SLC35D1):c.492G>A (p.Met164Ile)	SLC35D1 (M164I)	Single nucleotide variant (missense variant)	Schneckenbecken dysplasia	GUncertain significance
Select item 1406521	NM_015139.3(SLC35D1):c.24_26del (p.Gln8del)	SLC35D1 (Q8del)	Deletion (inframe_deletion)	Schneckenbecken dysplasia	GUncertain significance
Select item 1397927	NM_015139.3(SLC35D1):c.945T>A (p.Ile315=)	SLC35D1	Single nucleotide variant (synonymous variant)	Schneckenbecken dysplasia	GUncertain significance
Select item 1392953	NM_015139.3(SLC35D1):c.776T>A (p.Phe259Tyr)	SLC35D1 (F259Y)	Single nucleotide variant (missense variant)	Schneckenbecken dysplasia	GUncertain significance
Select item 1381973	NM_015139.3(SLC35D1):c.376A>G (p.Ser126Gly)	SLC35D1 (S126G)	Single nucleotide variant (missense variant)	Schneckenbecken dysplasia	GUncertain significance
Select item 1377542	NM_015139.3(SLC35D1):c.553_554delinsAC (p.Leu185Thr)	SLC35D1 (L185T)	Indel (missense variant)	Schneckenbecken dysplasia	GUncertain significance
Select item 1371077	NM_015139.3(SLC35D1):c.960-9G>C	SLC35D1	Single nucleotide variant (intron variant)	Schneckenbecken dysplasia +1 more	GLikely benign
Select item 1353875	NM_015139.3(SLC35D1):c.208C>T (p.Pro70Ser)	SLC35D1 (P70S)	Single nucleotide variant (missense variant)	Schneckenbecken dysplasia	GUncertain significance
Select item 1330504	NM_015139.3(SLC35D1):c.687G>T (p.Leu229=)	SLC35D1	Single nucleotide variant (synonymous variant)	Schneckenbecken dysplasia	GLikely benign
Select item 1325087	NM_015139.3(SLC35D1):c.496_497del (p.Val166fs)	SLC35D1 (V166fs)	Deletion (frameshift variant)	Schneckenbecken dysplasia	GLikely pathogenic
Select item 1314773	NM_015139.3(SLC35D1):c.902T>C (p.Met301Thr)	SLC35D1 (M301T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1270736	NM_015139.3(SLC35D1):c.636+28T>G	SLC35D1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1234892	NM_015139.3(SLC35D1):c.636+45C>A	SLC35D1	Single nucleotide variant (intron variant)	Schneckenbecken dysplasia +1 more	GBenign
Select item 1214190	NM_015139.3(SLC35D1):c.586G>A (p.Val196Ile)	SLC35D1 (V196I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1169792	NM_015139.3(SLC35D1):c.244G>A (p.Ala82Thr)	SLC35D1 (A82T)	Single nucleotide variant (missense variant)	Schneckenbecken dysplasia +1 more	GBenign
Select item 1169791	NM_015139.3(SLC35D1):c.393-5del	SLC35D1	Deletion (intron variant)	Schneckenbecken dysplasia +1 more	GBenign
Select item 1168661	NM_015139.3(SLC35D1):c.729+5G>C	SLC35D1	Single nucleotide variant (intron variant)	Schneckenbecken dysplasia +1 more	GBenign
Select item 1049524	NM_015139.3(SLC35D1):c.707A>G (p.Tyr236Cys)	SLC35D1 (Y236C)	Single nucleotide variant (missense variant)	Schneckenbecken dysplasia	GLikely benign
Select item 1038736	NM_015139.3(SLC35D1):c.812A>G (p.Tyr271Cys)	SLC35D1 (Y271C)	Single nucleotide variant (missense variant)	Schneckenbecken dysplasia +1 more	GUncertain significance
Select item 1013855	NM_015139.3(SLC35D1):c.37A>G (p.Lys13Glu)	SLC35D1 (K13E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 967179	NM_015139.3(SLC35D1):c.891_892del (p.Ile299fs)	SLC35D1 (I299fs)	Deletion (frameshift variant)	Schneckenbecken dysplasia	GUncertain significance
Select item 965733	NM_015139.3(SLC35D1):c.84G>C (p.Glu28Asp)	SLC35D1 (E28D)	Single nucleotide variant (missense variant)	Schneckenbecken dysplasia	GUncertain significance
Select item 856165	NM_015139.3(SLC35D1):c.712A>G (p.Thr238Ala)	SLC35D1 (T238A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 845566	NM_015139.3(SLC35D1):c.526G>T (p.Ala176Ser)	SLC35D1 (A176S)	Single nucleotide variant (missense variant)	Schneckenbecken dysplasia	GUncertain significance

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