ClinVar for Gene (Select 6568) - ClinVar

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Links from Gene

Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062940	GRCh37/hg19 6p22.2(chr6:25560739-26008260)x3	CARMIL1, H2AC1 +7 more	Copy number gain	not specified	GUncertain significance
Select item 2685197	GRCh37/hg19 6p22.3-22.2(chr6:21704602-26187420)x1	ACOT13, ALDH5A1 +38 more	Copy number loss	not provided	GLikely pathogenic
Select item 2620937	NM_005074.5(SLC17A1):c.818C>T (p.Thr273Met)	SLC17A1 (T273M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2612670	NM_005495.3(SLC17A4):c.980T>C (p.Leu327Pro)	SLC17A1, SLC17A4 (L273P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610109	NM_005074.5(SLC17A1):c.204A>G (p.Ile68Met)	SLC17A1 (I68M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608224	NM_005074.5(SLC17A1):c.221A>T (p.Asn74Ile)	SLC17A1 (N74I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2600516	NM_005074.5(SLC17A1):c.110G>A (p.Arg37His)	SLC17A1 (R37H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599245	NM_170745.3(H2AC1):c.62G>T (p.Arg21Ile)	H2AC1, SLC17A1 (R21I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594258	NM_005495.3(SLC17A4):c.581C>T (p.Pro194Leu)	SLC17A1, SLC17A4 (P140L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2568815	NM_005495.3(SLC17A4):c.517C>A (p.Gln173Lys)	SLC17A1, SLC17A4 (Q119K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545042	NM_170610.3(H2BC1):c.167T>C (p.Ile56Thr)	H2BC1, SLC17A1 (I56T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545040	NM_170745.3(H2AC1):c.311C>T (p.Ala104Val)	H2AC1, SLC17A1 (A104V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542807	NM_005074.5(SLC17A1):c.1280C>G (p.Ser427Cys)	SLC17A1 (S427C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542308	NM_005074.5(SLC17A1):c.316T>C (p.Ser106Pro)	SLC17A1 (S106P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541350	NM_170745.3(H2AC1):c.38C>A (p.Ala13Asp)	H2AC1, SLC17A1 (A13D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539709	NM_170610.3(H2BC1):c.53A>G (p.Lys18Arg)	H2BC1, SLC17A1 (K18R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539345	NM_005495.3(SLC17A4):c.281A>G (p.Lys94Arg)	SLC17A1, SLC17A4 (K40R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532606	NM_170610.3(H2BC1):c.293C>T (p.Thr98Ile)	H2BC1, SLC17A1 (T98I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532512	NM_005074.5(SLC17A1):c.601G>A (p.Val201Ile)	SLC17A1 (V201I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524462	NM_170745.3(H2AC1):c.361A>G (p.Thr121Ala)	H2AC1, SLC17A1 (T121A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523244	NM_170745.3(H2AC1):c.103C>T (p.Leu35Phe)	H2AC1, SLC17A1 (L35F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522531	NM_170610.3(H2BC1):c.14C>T (p.Ser5Leu)	H2BC1, SLC17A1 (S5L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516389	NM_170745.3(H2AC1):c.299G>C (p.Gly100Ala)	H2AC1, SLC17A1 (G100A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513633	NM_005074.5(SLC17A1):c.1282G>A (p.Ala428Thr)	SLC17A1 (A428T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481518	NM_005495.3(SLC17A4):c.950C>T (p.Thr317Met)	SLC17A1, SLC17A4 (T263M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479815	NM_170610.3(H2BC1):c.302G>T (p.Arg101Leu)	H2BC1, SLC17A1 (R101L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479402	NM_005074.5(SLC17A1):c.1027G>A (p.Ala343Thr)	SLC17A1 (A343T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476545	NM_005074.5(SLC17A1):c.214A>G (p.Met72Val)	SLC17A1 (M72V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2463224	NM_170745.3(H2AC1):c.382G>T (p.Ala128Ser)	H2AC1, SLC17A1 (A128S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461458	NM_005074.5(SLC17A1):c.1115C>T (p.Ala372Val)	SLC17A1 (A372V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2459290	NM_170745.3(H2AC1):c.22G>A (p.Gly8Arg)	H2AC1, SLC17A1 (G8R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2407024	NM_005495.3(SLC17A4):c.907T>C (p.Cys303Arg)	SLC17A1, SLC17A4 (C249R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377857	NM_005074.5(SLC17A1):c.17G>A (p.Arg6Gln)	SLC17A1 (R6Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2371522	NM_005495.3(SLC17A4):c.1042G>A (p.Gly348Arg)	SLC17A1, SLC17A4 (G294R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2352093	NM_005495.3(SLC17A4):c.39C>A (p.Asp13Glu)	SLC17A1, SLC17A4 (D13E)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2352092	NM_005495.3(SLC17A4):c.37G>T (p.Asp13Tyr)	SLC17A1, SLC17A4 (D13Y)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2347845	NM_005495.3(SLC17A4):c.962C>T (p.Ser321Leu)	SLC17A4, SLC17A1 (S267L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342710	NM_005495.3(SLC17A4):c.482C>T (p.Ala161Val)	SLC17A4, SLC17A1 (A107V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338320	NM_005495.3(SLC17A4):c.1198G>A (p.Val400Met)	SLC17A4, SLC17A1 (V346M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333249	NM_005495.3(SLC17A4):c.103G>T (p.Val35Phe)	SLC17A4, SLC17A1 (V35F)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2331162	NM_005495.3(SLC17A4):c.664C>T (p.Leu222Phe)	SLC17A1, SLC17A4 (L222F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330184	NM_005495.3(SLC17A4):c.280A>G (p.Lys94Glu)	SLC17A4, SLC17A1 (K94E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328489	NM_005074.5(SLC17A1):c.964T>C (p.Ser322Pro)	SLC17A1 (S322P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322826	NM_005074.5(SLC17A1):c.500G>A (p.Arg167Gln)	SLC17A1 (R167Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315182	NM_005495.3(SLC17A4):c.1399G>A (p.Ala467Thr)	SLC17A1, SLC17A4 (A467T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302708	NM_005495.3(SLC17A4):c.929C>A (p.Thr310Asn)	SLC17A4, SLC17A1 (T256N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290680	NM_005495.3(SLC17A4):c.1055C>A (p.Ala352Glu)	SLC17A4, SLC17A1 (A298E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284159	NM_005495.3(SLC17A4):c.64G>A (p.Val22Met)	SLC17A4, SLC17A1 (V22M)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2281856	NM_005495.3(SLC17A4):c.1258A>G (p.Ile420Val)	SLC17A1, SLC17A4 (I420V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273828	NM_005495.3(SLC17A4):c.1182G>A (p.Met394Ile)	SLC17A4, SLC17A1 (M340I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268142	NM_005074.5(SLC17A1):c.1077T>A (p.Ser359Arg)	SLC17A1 (S359R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266027	NM_005495.3(SLC17A4):c.1123G>T (p.Val375Phe)	SLC17A1, SLC17A4 (V375F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225114	NM_005495.3(SLC17A4):c.65T>G (p.Val22Gly)	SLC17A4, SLC17A1 (V22G)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2220586	NM_005495.3(SLC17A4):c.805G>T (p.Val269Leu)	SLC17A4, SLC17A1 (V215L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220499	NM_005074.5(SLC17A1):c.212C>G (p.Pro71Arg)	SLC17A1 (P71R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2215282	NM_005074.5(SLC17A1):c.197A>G (p.Asp66Gly)	SLC17A1 (D66G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1229422	NM_005495.3(SLC17A4):c.1114G>A (p.Ala372Thr)	SLC17A1, SLC17A4 (A318T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 979705	GRCh37/hg19 6p22.2(chr6:25622751-25853825)x1	SLC17A3, H2AC1 +4 more	Copy number loss	not provided	GUncertain significance
Select item 716025	NM_005074.5(SLC17A1):c.1374G>A (p.Trp458Ter)	SLC17A1 (W458*)	Single nucleotide variant (nonsense)	not provided	GBenign
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	CYP39A1, DAAM2 +2577 more	Copy number gain	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	LOC129995913, LOC129995914 +1340 more	Copy number gain	See cases	GPathogenic
Select item 149747	GRCh38/hg38 6p22.3-22.2(chr6:23252522-25967277)x1	ACOT13, ALDH5A1 +64 more	Copy number loss	See cases	GUncertain significance

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Links from Gene

Items: 67