SLC7A6[gene] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155685	GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3	LOC130059125, LOC130059126 +675 more	Copy number gain	See cases	GPathogenic
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 58630	GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3	LOC130059330, LOC130059331 +599 more	Copy number gain	See cases	GPathogenic
Select item 58632	GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3	LOC130059197, LOC130059198 +575 more	Copy number gain	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059829, LOC130059830 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC108281164, LOC109029536 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	LOC130059834, LOC130059835 +1424 more	Copy number gain	See cases	GPathogenic
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059420, LOC130059421 +869 more	Copy number gain	See cases	GPathogenic
Select item 3165599	NM_003983.6(SLC7A6):c.32C>T (p.Pro11Leu)	SLC7A6 (P11L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057895	NM_003983.6(SLC7A6):c.45T>C (p.Leu15=)	SLC7A6	Single nucleotide variant (synonymous variant)	SLC7A6-related disorder	GLikely benign
Select item 3059041	NM_003983.6(SLC7A6):c.78A>T (p.Glu26Asp)	SLC7A6 (E26D)	Single nucleotide variant (missense variant)	SLC7A6-related disorder	GBenign
Select item 2225783	NM_003983.6(SLC7A6):c.246T>G (p.Ile82Met)	SLC7A6 (I82M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033234	NM_003983.6(SLC7A6):c.429C>T (p.Ile143=)	SLC7A6	Single nucleotide variant (synonymous variant)	SLC7A6-related disorder	GLikely benign
Select item 3165600	NM_003983.6(SLC7A6):c.466T>C (p.Phe156Leu)	SLC7A6 (F156L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537366	NM_003983.6(SLC7A6):c.500G>A (p.Arg167His)	SLC7A6 (R167H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264746	NM_003983.6(SLC7A6):c.581C>T (p.Thr194Met)	SLC7A6 (T194M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348153	NM_003983.6(SLC7A6):c.592G>A (p.Ala198Thr)	SLC7A6 (A198T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165601	NM_003983.6(SLC7A6):c.611T>C (p.Ile204Thr)	SLC7A6 (I204T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266877	NM_003983.6(SLC7A6):c.673G>A (p.Ala225Thr)	SLC7A6 (A225T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320605	NM_003983.6(SLC7A6):c.683G>A (p.Gly228Asp)	SLC7A6 (G228D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777037	NM_003983.6(SLC7A6):c.886T>A (p.Ser296Thr)	SLC7A6 (S296T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3034380	NM_003983.6(SLC7A6):c.936G>A (p.Thr312=)	SLC7A6	Single nucleotide variant (synonymous variant)	SLC7A6-related disorder	GLikely benign
Select item 2289226	NM_003983.6(SLC7A6):c.959T>C (p.Ile320Thr)	SLC7A6 (I320T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382005	NM_003983.6(SLC7A6):c.1058C>T (p.Pro353Leu)	SLC7A6 (P353L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320216	NM_003983.6(SLC7A6):c.1066C>A (p.Leu356Met)	SLC7A6 (L356M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165596	NM_003983.6(SLC7A6):c.1105G>C (p.Ala369Pro)	SLC7A6 (A369P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320218	NM_003983.6(SLC7A6):c.1130C>T (p.Ala377Val)	SLC7A6 (A377V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719412	NM_003983.6(SLC7A6):c.1250A>G (p.Lys417Arg)	SLC7A6 (K417R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3165597	NM_003983.6(SLC7A6):c.1255C>T (p.Pro419Ser)	SLC7A6 (P419S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481907	NM_003983.6(SLC7A6):c.1302A>G (p.Ile434Met)	SLC7A6 (I434M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777038	NM_003983.6(SLC7A6):c.1370T>C (p.Ile457Thr)	SLC7A6 (I457T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2487020	NM_003983.6(SLC7A6):c.1423C>T (p.Arg475Trp)	SLC7A6 (R475W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465253	NM_003983.6(SLC7A6):c.1448T>C (p.Val483Ala)	SLC7A6 (V483A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045806	NM_003983.6(SLC7A6):c.1488T>C (p.Phe496=)	SLC7A6	Single nucleotide variant (synonymous variant)	SLC7A6-related disorder	GLikely benign
Select item 2239811	NM_003983.6(SLC7A6):c.1492G>A (p.Val498Ile)	SLC7A6 (V498I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165598	NM_003983.6(SLC7A6):c.1496T>C (p.Leu499Pro)	SLC7A6 (L499P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546449	NM_032178.3(SLC7A6OS):c.919G>T (p.Asp307Tyr)	SLC7A6, SLC7A6OS (D307Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3320220	NM_032178.3(SLC7A6OS):c.864C>G (p.Ser288Arg)	SLC7A6, SLC7A6OS (S288R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3320221	NM_032178.3(SLC7A6OS):c.835A>G (p.Arg279Gly)	SLC7A6, SLC7A6OS (R279G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3255478	NC_000016.9:g.(?_48799549)_(70756330_?)dup	PRMT7, PRSS54 +195 more	Duplication	Chromosome 16q12 duplication syndrome	GLikely pathogenic
Select item 3063446	GRCh37/hg19 16q22.1(chr16:67583728-69977397)x3	ACD, C16orf86 +48 more	Copy number gain	not specified	GUncertain significance
Select item 2684810	GRCh37/hg19 16q22.1(chr16:68292285-69424236)x3	CDH1, CDH3 +17 more	Copy number gain	not provided	GUncertain significance
Select item 2684809	GRCh37/hg19 16q22.1(chr16:67498380-68754276)x3	ACD, AGRP +33 more	Copy number gain	not provided	GUncertain significance
Select item 2423664	NC_000016.9:g.(?_65821800)_(72146396_?)del	CYB5B, DDX19A +127 more	Deletion	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 1807851	GRCh37/hg19 16q22.1(chr16:68326200-68970975)x3	CDH1, CDH3 +6 more	Copy number gain	not provided	GUncertain significance
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	AARS1, ABCC11 +368 more	Copy number gain	not provided	GPathogenic
Select item 973025	GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3	AARS1, ACD +268 more	Copy number gain	not provided	Gnot provided
Select item 815823	GRCh37/hg19 16q21-22.1(chr16:65669673-70180183)x1	EXOC3L1, ESRP2 +95 more	Copy number loss	not provided	GPathogenic
Select item 564331	GRCh37/hg19 16q12.2-22.2(chr16:54416050-72453266)x3	AARS1, ACD +194 more	Copy number gain	not provided	GPathogenic
Select item 523162	GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	CA7, COG8 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 523156	GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	KCTD19, KIAA0513 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442214	GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3	AARS1, ACD +292 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 395249	GRCh37/hg19 16q22.1(chr16:67654566-68404073)x1	ACD, C16orf86 +28 more	Copy number loss	See cases	GLikely pathogenic
Select item 221523	GRCh37/hg19 16q12.2-22.2(chr16:55359026-70884455)x1	AARS1, ACD +174 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221392	GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	ATXN1L, B3GNT9 +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221345	Single allele	ADGRG5, CFAP263 +324 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 61