SLC17A1[gene] - ClinVar

Search results

Items: 97

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	LOC110121220, LOC110121246 +2579 more	Copy number gain	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +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
Select item 2463224	NM_170745.3(H2AC1):c.382G>T (p.Ala128Ser)	H2AC1, SLC17A1 (A128S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524462	NM_170745.3(H2AC1):c.361A>G (p.Thr121Ala)	H2AC1, SLC17A1 (T121A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545040	NM_170745.3(H2AC1):c.311C>T (p.Ala104Val)	H2AC1, SLC17A1 (A104V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516389	NM_170745.3(H2AC1):c.299G>C (p.Gly100Ala)	H2AC1, SLC17A1 (G100A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103670	NM_170745.3(H2AC1):c.155T>C (p.Leu52Ser)	H2AC1, SLC17A1 (L52S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523244	NM_170745.3(H2AC1):c.103C>T (p.Leu35Phe)	H2AC1, SLC17A1 (L35F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599245	NM_170745.3(H2AC1):c.62G>T (p.Arg21Ile)	H2AC1, SLC17A1 (R21I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103672	NM_170745.3(H2AC1):c.41A>G (p.Lys14Arg)	H2AC1, SLC17A1 (K14R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541350	NM_170745.3(H2AC1):c.38C>A (p.Ala13Asp)	H2AC1, SLC17A1 (A13D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103671	NM_170745.3(H2AC1):c.29A>T (p.Lys10Ile)	H2AC1, SLC17A1 (K10I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459290	NM_170745.3(H2AC1):c.22G>A (p.Gly8Arg)	H2AC1, SLC17A1 (G8R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103764	NM_170610.3(H2BC1):c.10G>A (p.Val4Met)	H2BC1, SLC17A1 (V4M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522531	NM_170610.3(H2BC1):c.14C>T (p.Ser5Leu)	H2BC1, SLC17A1 (S5L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103770	NM_170610.3(H2BC1):c.31A>G (p.Ile11Val)	H2BC1, SLC17A1 (I11V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539709	NM_170610.3(H2BC1):c.53A>G (p.Lys18Arg)	H2BC1, SLC17A1 (K18R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103771	NM_170610.3(H2BC1):c.68C>T (p.Thr23Ile)	H2BC1, SLC17A1 (T23I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103772	NM_170610.3(H2BC1):c.74A>G (p.Lys25Arg)	H2BC1, SLC17A1 (K25R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103773	NM_170610.3(H2BC1):c.77A>G (p.Lys26Arg)	H2BC1, SLC17A1 (K26R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103774	NM_170610.3(H2BC1):c.92G>A (p.Arg31His)	H2BC1, SLC17A1 (R31H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103765	NM_170610.3(H2BC1):c.119C>G (p.Ser40Cys)	H2BC1, SLC17A1 (S40C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545042	NM_170610.3(H2BC1):c.167T>C (p.Ile56Thr)	H2BC1, SLC17A1 (I56T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103766	NM_170610.3(H2BC1):c.202G>A (p.Val68Ile)	H2BC1, SLC17A1 (V68I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103767	NM_170610.3(H2BC1):c.212T>C (p.Ile71Thr)	H2BC1, SLC17A1 (I71T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103768	NM_170610.3(H2BC1):c.230G>A (p.Ser77Asn)	H2BC1, SLC17A1 (S77N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103769	NM_170610.3(H2BC1):c.247G>T (p.Ala83Ser)	H2BC1, SLC17A1 (A83S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532606	NM_170610.3(H2BC1):c.293C>T (p.Thr98Ile)	H2BC1, SLC17A1 (T98I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479815	NM_170610.3(H2BC1):c.302G>T (p.Arg101Leu)	H2BC1, SLC17A1 (R101L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2352093	NM_005495.3(SLC17A4):c.39C>A (p.Asp13Glu)	SLC17A1, SLC17A4 (D13E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2284159	NM_005495.3(SLC17A4):c.64G>A (p.Val22Met)	SLC17A1, SLC17A4 (V22M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2225114	NM_005495.3(SLC17A4):c.65T>G (p.Val22Gly)	SLC17A1, SLC17A4 (V22G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3163190	NM_005495.3(SLC17A4):c.92G>A (p.Gly31Asp)	SLC17A1, SLC17A4 (G31D)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2333249	NM_005495.3(SLC17A4):c.103G>T (p.Val35Phe)	SLC17A1, SLC17A4 (V35F)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3163185	NM_005495.3(SLC17A4):c.183C>G (p.Ile61Met)	SLC17A1, SLC17A4 (I61M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330184	NM_005495.3(SLC17A4):c.280A>G (p.Lys94Glu)	SLC17A1, SLC17A4 (K94E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539345	NM_005495.3(SLC17A4):c.281A>G (p.Lys94Arg)	SLC17A1, SLC17A4 (K40R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342710	NM_005495.3(SLC17A4):c.482C>T (p.Ala161Val)	SLC17A1, SLC17A4 (A107V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568815	NM_005495.3(SLC17A4):c.517C>A (p.Gln173Lys)	SLC17A1, SLC17A4 (Q119K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163186	NM_005495.3(SLC17A4):c.548G>A (p.Gly183Asp)	SLC17A1, SLC17A4 (G183D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594258	NM_005495.3(SLC17A4):c.581C>T (p.Pro194Leu)	SLC17A1, SLC17A4 (P140L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163187	NM_005495.3(SLC17A4):c.656G>T (p.Gly219Val)	SLC17A1, SLC17A4 (G165V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331162	NM_005495.3(SLC17A4):c.664C>T (p.Leu222Phe)	SLC17A1, SLC17A4 (L222F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163188	NM_005495.3(SLC17A4):c.689A>T (p.Tyr230Phe)	SLC17A1, SLC17A4 (Y176F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163189	NM_005495.3(SLC17A4):c.783T>G (p.Ser261Arg)	SLC17A1, SLC17A4 (S261R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220586	NM_005495.3(SLC17A4):c.805G>T (p.Val269Leu)	SLC17A1, SLC17A4 (V215L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407024	NM_005495.3(SLC17A4):c.907T>C (p.Cys303Arg)	SLC17A1, SLC17A4 (C249R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302708	NM_005495.3(SLC17A4):c.929C>A (p.Thr310Asn)	SLC17A1, SLC17A4 (T256N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481518	NM_005495.3(SLC17A4):c.950C>T (p.Thr317Met)	SLC17A1, SLC17A4 (T263M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347845	NM_005495.3(SLC17A4):c.962C>T (p.Ser321Leu)	SLC17A1, SLC17A4 (S267L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612670	NM_005495.3(SLC17A4):c.980T>C (p.Leu327Pro)	SLC17A1, SLC17A4 (L273P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371522	NM_005495.3(SLC17A4):c.1042G>A (p.Gly348Arg)	SLC17A1, SLC17A4 (G294R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290680	NM_005495.3(SLC17A4):c.1055C>A (p.Ala352Glu)	SLC17A1, SLC17A4 (A298E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163180	NM_005495.3(SLC17A4):c.1057G>C (p.Asp353His)	SLC17A1, SLC17A4 (D299H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163181	NM_005495.3(SLC17A4):c.1060T>A (p.Phe354Ile)	SLC17A1, SLC17A4 (F300I +1 more)	Single nucleotide variant (missense variant)	not specified	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 2266027	NM_005495.3(SLC17A4):c.1123G>T (p.Val375Phe)	SLC17A1, SLC17A4 (V375F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273828	NM_005495.3(SLC17A4):c.1182G>A (p.Met394Ile)	SLC17A1, SLC17A4 (M340I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338320	NM_005495.3(SLC17A4):c.1198G>A (p.Val400Met)	SLC17A1, SLC17A4 (V346M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281856	NM_005495.3(SLC17A4):c.1258A>G (p.Ile420Val)	SLC17A1, SLC17A4 (I420V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163182	NM_005495.3(SLC17A4):c.1304T>C (p.Phe435Ser)	SLC17A1, SLC17A4 (F435S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163183	NM_005495.3(SLC17A4):c.1337C>A (p.Ala446Asp)	SLC17A1, SLC17A4 (A392D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315182	NM_005495.3(SLC17A4):c.1399G>A (p.Ala467Thr)	SLC17A1, SLC17A4 (A467T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163184	NM_005495.3(SLC17A4):c.1445G>A (p.Arg482Gln)	SLC17A1, SLC17A4 (R428Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 716025	NM_005074.5(SLC17A1):c.1374G>A (p.Trp458Ter)	SLC17A1 (W458*)	Single nucleotide variant (nonsense)	not provided	GBenign
Select item 2513633	NM_005074.5(SLC17A1):c.1282G>A (p.Ala428Thr)	SLC17A1 (A428T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542807	NM_005074.5(SLC17A1):c.1280C>G (p.Ser427Cys)	SLC17A1 (S427C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163160	NM_005074.5(SLC17A1):c.1244C>T (p.Thr415Ile)	SLC17A1 (T415I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461458	NM_005074.5(SLC17A1):c.1115C>T (p.Ala372Val)	SLC17A1 (A372V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2268142	NM_005074.5(SLC17A1):c.1077T>A (p.Ser359Arg)	SLC17A1 (S359R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479402	NM_005074.5(SLC17A1):c.1027G>A (p.Ala343Thr)	SLC17A1 (A343T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163167	NM_005074.5(SLC17A1):c.970T>A (p.Phe324Ile)	SLC17A1 (F324I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328489	NM_005074.5(SLC17A1):c.964T>C (p.Ser322Pro)	SLC17A1 (S322P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620937	NM_005074.5(SLC17A1):c.818C>T (p.Thr273Met)	SLC17A1 (T273M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532512	NM_005074.5(SLC17A1):c.601G>A (p.Val201Ile)	SLC17A1 (V201I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322826	NM_005074.5(SLC17A1):c.500G>A (p.Arg167Gln)	SLC17A1 (R167Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163164	NM_005074.5(SLC17A1):c.497A>T (p.Glu166Val)	SLC17A1 (E166V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163163	NM_005074.5(SLC17A1):c.443G>C (p.Gly148Ala)	SLC17A1 (G148A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542308	NM_005074.5(SLC17A1):c.316T>C (p.Ser106Pro)	SLC17A1 (S106P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163162	NM_005074.5(SLC17A1):c.256T>C (p.Ser86Pro)	SLC17A1 (S86P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608224	NM_005074.5(SLC17A1):c.221A>T (p.Asn74Ile)	SLC17A1 (N74I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476545	NM_005074.5(SLC17A1):c.214A>G (p.Met72Val)	SLC17A1 (M72V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2220499	NM_005074.5(SLC17A1):c.212C>G (p.Pro71Arg)	SLC17A1 (P71R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610109	NM_005074.5(SLC17A1):c.204A>G (p.Ile68Met)	SLC17A1 (I68M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215282	NM_005074.5(SLC17A1):c.197A>G (p.Asp66Gly)	SLC17A1 (D66G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163161	NM_005074.5(SLC17A1):c.142G>A (p.Val48Met)	SLC17A1 (V48M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163159	NM_005074.5(SLC17A1):c.113C>T (p.Ala38Val)	SLC17A1 (A38V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2600516	NM_005074.5(SLC17A1):c.110G>A (p.Arg37His)	SLC17A1 (R37H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163166	NM_005074.5(SLC17A1):c.65T>G (p.Leu22Trp)	SLC17A1 (L22W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377857	NM_005074.5(SLC17A1):c.17G>A (p.Arg6Gln)	SLC17A1 (R6Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 979705	GRCh37/hg19 6p22.2(chr6:25622751-25853825)x1	SLC17A3, H2AC1 +4 more	Copy number loss	not provided	GUncertain significance
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +1028 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 97