ClinVar for Gene (Select 23169) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3319588	NM_015139.3(SLC35D1):c.1013G>A (p.Ser338Asn)	SLC35D1 (S338N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3319587	NM_015139.3(SLC35D1):c.903G>A (p.Met301Ile)	SLC35D1 (M301I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3319586	NM_015139.3(SLC35D1):c.1028C>T (p.Ala343Val)	SLC35D1 (A343V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3319585	NM_015139.3(SLC35D1):c.31C>T (p.Arg11Trp)	SLC35D1 (R11W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3319584	NM_015139.3(SLC35D1):c.659T>C (p.Leu220Pro)	SLC35D1 (L220P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3294854	NM_001077700.3(MIER1):c.1618G>C (p.Glu540Gln)	MIER1, SLC35D1 (E460Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3294851	NM_001077700.3(MIER1):c.1439A>G (p.Asn480Ser)	LOC129388544, MIER1 +1 more (N427S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3247793	NC_000001.10:g.(?_61548464)_(67861772_?)dup	AK4, ALG6 +32 more	Duplication	PGM1-congenital disorder of glycosylation	GUncertain significance
Select item 3234982	NM_015139.3(SLC35D1):c.575T>C (p.Leu192Pro)	SLC35D1 (L192P)	Single nucleotide variant (missense variant)	Schneckenbecken dysplasia	GUncertain significance
Select item 3164355	NM_015139.3(SLC35D1):c.436A>G (p.Thr146Ala)	SLC35D1 (T146A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3164354	NM_015139.3(SLC35D1):c.151G>A (p.Val51Met)	SLC35D1 (V51M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3126439	NM_001077700.3(MIER1):c.1510C>G (p.Leu504Val)	LOC129388544, MIER1 +1 more (L504V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126438	NM_001077700.3(MIER1):c.1465C>T (p.Pro489Ser)	LOC129388544, MIER1 +1 more (P409S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126437	NM_001077700.3(MIER1):c.1246C>T (p.Leu416Phe)	MIER1, SLC35D1 (L380F +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3024943	NM_001077700.3(MIER1):c.1378T>C (p.Ser460Pro)	LOC129388544, LOC129930727 +2 more (S344P +5 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 +1 more	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 2633725	NM_015139.3(SLC35D1):c.637G>T (p.Glu213Ter)	SLC35D1 (E213*)	Single nucleotide variant (nonsense)	SLC35D1-related disorder	GLikely pathogenic
Select item 2616965	NM_015139.3(SLC35D1):c.454G>A (p.Val152Ile)	SLC35D1 (V152I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534592	NM_015139.3(SLC35D1):c.68T>A (p.Leu23His)	SLC35D1 (L23H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2522044	NM_015139.3(SLC35D1):c.187G>C (p.Val63Leu)	SLC35D1 (V63L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515973	NM_001077700.3(MIER1):c.1487C>T (p.Thr496Ile)	LOC129388544, MIER1 +1 more (T460I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492575	NM_015139.3(SLC35D1):c.32G>C (p.Arg11Pro)	SLC35D1 (R11P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484148	NM_015139.3(SLC35D1):c.774G>C (p.Gln258His)	SLC35D1 (Q258H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466005	NM_015139.3(SLC35D1):c.73G>C (p.Asp25His)	SLC35D1 (D25H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2425382	NC_000001.10:g.(?_61548464)_(67861772_?)del	AK4, ALG6 +32 more	Deletion	not provided	GPathogenic
Select item 2424397	NC_000001.10:g.(?_65299551)_(67861772_?)del	AK4, C1orf141 +14 more	Deletion	not provided	GPathogenic
Select item 2415561	NM_015139.3(SLC35D1):c.325-9A>T	SLC35D1	Single nucleotide variant (intron variant)	Schneckenbecken dysplasia	GLikely benign
Select item 2375648	NM_001077700.3(MIER1):c.1531G>A (p.Ala511Thr)	LOC129388544, MIER1 +1 more (A458T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363094	NM_015139.3(SLC35D1):c.365C>T (p.Thr122Met)	SLC35D1 (T122M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337662	NM_015139.3(SLC35D1):c.553C>A (p.Leu185Met)	SLC35D1 (L185M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281735	NM_001077700.3(MIER1):c.1528C>T (p.Leu510Phe)	LOC129388544, MIER1 +1 more (L430F +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278888	NM_015139.3(SLC35D1):c.283G>A (p.Val95Ile)	SLC35D1 (V95I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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)	Inborn genetic diseases +1 more	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 1707456	Single allele	ACADM, AK5 +188 more	Duplication	not specified	GUncertain significance
Select item 1702487	NM_015139.3(SLC35D1):c.98C>T (p.Ser33Leu)	SLC35D1 (S33L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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 1702485	NM_015139.3(SLC35D1):c.392+7A>G	SLC35D1	Single nucleotide variant (intron variant)	Connective tissue disorder	GUncertain significance
Select item 1695476	NM_015139.3(SLC35D1):c.284T>C (p.Val95Ala)	SLC35D1 (V95A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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

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