ClinVar for Gene (Select 6512) - ClinVar

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Links from Gene

Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3163298	NM_006671.6(SLC1A7):c.943C>T (p.Leu315Phe)	SLC1A7 (L243F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163297	NM_006671.6(SLC1A7):c.876G>T (p.Lys292Asn)	SLC1A7 (K220N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163295	NM_006671.6(SLC1A7):c.853G>A (p.Asp285Asn)	SLC1A7 (D213N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163294	NM_006671.6(SLC1A7):c.767C>T (p.Ser256Leu)	SLC1A7 (S256L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163293	NM_006671.6(SLC1A7):c.559G>A (p.Val187Ile)	SLC1A7 (V115I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163292	NM_006671.6(SLC1A7):c.526G>A (p.Glu176Lys)	SLC1A7 (E104K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163291	NM_006671.6(SLC1A7):c.496G>A (p.Val166Ile)	SLC1A7 (V166I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163290	NM_006671.6(SLC1A7):c.355G>A (p.Ala119Thr)	SLC1A7 (A119T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3163289	NM_006671.6(SLC1A7):c.1642C>T (p.His548Tyr)	SLC1A7 (H607Y +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3163288	NM_006671.6(SLC1A7):c.1488G>C (p.Lys496Asn)	SLC1A7 (A431P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163287	NM_006671.6(SLC1A7):c.1297G>A (p.Val433Met)	SLC1A7 (V433M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163286	NM_006671.6(SLC1A7):c.118C>T (p.Arg40Trp)	SLC1A7 (R40W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163285	NM_006671.6(SLC1A7):c.116C>T (p.Thr39Ile)	SLC1A7 (T39I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163284	NM_006671.6(SLC1A7):c.1129A>C (p.Asn377His)	SLC1A7 (N377H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062755	GRCh37/hg19 1p33-32.2(chr1:47493178-57042671)x3	ACOT11, AGBL4 +72 more	Copy number gain	not specified	GLikely pathogenic
Select item 2672311	Single allele	ARTN, ATP6V0B +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 2638821	NM_006671.6(SLC1A7):c.1650C>T (p.Thr550=)	SLC1A7	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2618725	NM_006671.6(SLC1A7):c.704T>C (p.Met235Thr)	SLC1A7 (M163T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529571	NM_006671.6(SLC1A7):c.391C>G (p.Pro131Ala)	SLC1A7 (P131A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2524414	NM_006671.6(SLC1A7):c.37G>A (p.Val13Met)	SLC1A7 (V13M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520587	NM_006671.6(SLC1A7):c.1447C>T (p.Arg483Trp)	SLC1A7 (R542W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514712	NM_006671.6(SLC1A7):c.922G>A (p.Gly308Arg)	SLC1A7 (G308R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472477	NM_006671.6(SLC1A7):c.277G>A (p.Val93Met)	SLC1A7 (V93M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2469876	NM_006671.6(SLC1A7):c.1076A>G (p.Asn359Ser)	SLC1A7 (N359S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467879	NM_006671.6(SLC1A7):c.988G>C (p.Gly330Arg)	SLC1A7 (G330R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465264	NM_006671.6(SLC1A7):c.986G>A (p.Arg329His)	SLC1A7 (R329H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458480	NM_006671.6(SLC1A7):c.356C>T (p.Ala119Val)	SLC1A7 (A119V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2391715	NM_006671.6(SLC1A7):c.798G>C (p.Trp266Cys)	SLC1A7 (W266C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381853	NM_006671.6(SLC1A7):c.479G>A (p.Arg160His)	SLC1A7 (R160H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381707	NM_006671.6(SLC1A7):c.1640A>C (p.Asn547Thr)	SLC1A7 (N606T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2378291	NM_006671.6(SLC1A7):c.1309G>A (p.Val437Met)	SLC1A7 (V365M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360554	NM_006671.6(SLC1A7):c.1195G>A (p.Glu399Lys)	SLC1A7 (E327K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358999	NM_006671.6(SLC1A7):c.1100G>A (p.Arg367His)	SLC1A7 (R367H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357596	NM_006671.6(SLC1A7):c.866T>C (p.Val289Ala)	SLC1A7 (V289A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357064	NM_006671.6(SLC1A7):c.8C>T (p.Pro3Leu)	SLC1A7 (P3L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2347061	NM_006671.6(SLC1A7):c.122G>A (p.Arg41His)	SLC1A7 (R41H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2326981	NM_006671.6(SLC1A7):c.950T>G (p.Phe317Cys)	SLC1A7 (F317C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303838	NM_006671.6(SLC1A7):c.446C>A (p.Ala149Asp)	SLC1A7 (A149D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291450	NM_006671.6(SLC1A7):c.1346C>A (p.Ala449Asp)	SLC1A7 (A377D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287911	NM_006671.6(SLC1A7):c.85G>A (p.Val29Met)	SLC1A7 (V29M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272136	NM_006671.6(SLC1A7):c.491C>T (p.Thr164Ile)	SLC1A7 (T164I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252324	NM_006671.6(SLC1A7):c.1505A>C (p.Glu502Ala)	SLC1A7 (E561A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2226772	NM_006671.6(SLC1A7):c.542G>A (p.Arg181Gln)	SLC1A7 (R181Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221974	NM_006671.6(SLC1A7):c.26G>C (p.Arg9Pro)	SLC1A7 (R9P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207372	NM_006671.6(SLC1A7):c.772A>T (p.Met258Leu)	SLC1A7 (M258L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1235045	NM_006671.6(SLC1A7):c.987T>C (p.Arg329=)	SLC1A7	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1047872	GRCh37/hg19 1p32.3-32.2(chr1:51941877-56688514)	CYB5RL, EPS15 +49 more	Copy number loss	Abnormality of the kidney +1 more	GPathogenic
Select item 814082	GRCh37/hg19 1p32.3(chr1:53039602-53734721)x3	SLC1A7, MAGOH +11 more	Copy number gain	not provided	GLikely benign
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 443438	GRCh37/hg19 1p32.3(chr1:53370010-54017544)x3	CPT2, CZIB +8 more	Copy number gain	See cases	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 394094	GRCh37/hg19 1p32.3(chr1:51729573-55164001)x1	LRP8, LRRC42 +42 more	Copy number loss	See cases	GPathogenic
Select item 153325	GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3	ACOT11, AK4 +421 more	Copy number gain	See cases	GLikely pathogenic
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	LOC129388541, LOC129388542 +570 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 55