SLC17A4[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 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 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 3318975	NM_005495.3(SLC17A4):c.290A>C (p.Lys97Thr)	SLC17A1, SLC17A4 (K43T +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 3318976	NM_005495.3(SLC17A4):c.887C>A (p.Ala296Asp)	SLC17A1, SLC17A4 (A242D +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 3318978	NM_005495.3(SLC17A4):c.1267C>T (p.Arg423Trp)	SLC17A1, SLC17A4 (R369W +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 3318974	NM_005495.3(SLC17A4):c.1355G>T (p.Ser452Ile)	SLC17A1, SLC17A4 (S398I +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 3318979	NM_005495.3(SLC17A4):c.1430A>G (p.Tyr477Cys)	SLC17A1, SLC17A4 (Y477C +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 3318977	NM_005495.3(SLC17A4):c.1451A>T (p.Asp484Val)	SLC17A1, SLC17A4 (D430V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic

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Items: 50