SLC7A6OS[gene] - ClinVar

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Items: 68

	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 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 3165606	NM_032178.3(SLC7A6OS):c.775A>G (p.Ser259Gly)	SLC7A6OS (S259G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2627264	NM_032178.3(SLC7A6OS):c.759C>G (p.Tyr253Ter)	SLC7A6OS (Y253*)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 3320222	NM_032178.3(SLC7A6OS):c.752A>G (p.Asn251Ser)	SLC7A6OS (N251S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165605	NM_032178.3(SLC7A6OS):c.743A>G (p.Asn248Ser)	SLC7A6OS (N248S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1299431	NM_032178.3(SLC7A6OS):c.709T>C (p.Tyr237His)	SLC7A6OS (Y237H)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 12	GUncertain significance
Select item 2539948	NM_032178.3(SLC7A6OS):c.670T>C (p.Trp224Arg)	SLC7A6OS (W224R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498669	NM_032178.3(SLC7A6OS):c.669A>G (p.Glu223=)	SLC7A6OS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2599620	NM_032178.3(SLC7A6OS):c.654G>T (p.Gln218His)	SLC7A6OS (Q218H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714707	NM_032178.3(SLC7A6OS):c.649G>A (p.Val217Met)	SLC7A6OS (V217M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2646651	NM_032178.3(SLC7A6OS):c.648C>T (p.Ser216=)	SLC7A6OS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3320223	NM_032178.3(SLC7A6OS):c.622C>G (p.Pro208Ala)	SLC7A6OS (P208A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376228	NM_032178.3(SLC7A6OS):c.614C>T (p.Thr205Met)	SLC7A6OS (T205M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2380388	NM_032178.3(SLC7A6OS):c.590T>C (p.Val197Ala)	SLC7A6OS (V197A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165604	NM_032178.3(SLC7A6OS):c.467G>T (p.Cys156Phe)	SLC7A6OS (C156F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267078	NM_032178.3(SLC7A6OS):c.418G>C (p.Asp140His)	SLC7A6OS (D140H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315846	NM_032178.3(SLC7A6OS):c.407T>A (p.Phe136Tyr)	SLC7A6OS (F136Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3341758	NM_032178.3(SLC7A6OS):c.390C>G (p.Ala130=)	SLC7A6OS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2646652	NM_032178.3(SLC7A6OS):c.380A>G (p.Asn127Ser)	SLC7A6OS (N127S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2646653	NM_032178.3(SLC7A6OS):c.358G>A (p.Glu120Lys)	SLC7A6OS (E120K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2240529	NM_032178.3(SLC7A6OS):c.352G>T (p.Gly118Cys)	SLC7A6OS (G118C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320219	NM_032178.3(SLC7A6OS):c.332C>A (p.Ser111Tyr)	SLC7A6OS (S111Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550651	NM_032178.3(SLC7A6OS):c.316C>T (p.Leu106Phe)	SLC7A6OS (L106F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320224	NM_032178.3(SLC7A6OS):c.311G>A (p.Arg104Gln)	SLC7A6OS (R104Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536532	NM_032178.3(SLC7A6OS):c.211C>G (p.Leu71Val)	SLC7A6OS (L71V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165602	NM_032178.3(SLC7A6OS):c.208C>T (p.Pro70Ser)	SLC7A6OS (P70S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320225	NM_032178.3(SLC7A6OS):c.207G>T (p.Gln69His)	SLC7A6OS (Q69H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 973432	NM_032178.3(SLC7A6OS):c.191A>G (p.Gln64Arg)	PRMT7, SLC7A6OS (Q64R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2646654	NM_032178.3(SLC7A6OS):c.168C>T (p.His56=)	SLC7A6OS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2513053	NM_032178.3(SLC7A6OS):c.143G>A (p.Arg48Lys)	SLC7A6OS (R48K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790166	NM_032178.3(SLC7A6OS):c.70G>A (p.Val24Met)	SLC7A6OS (V24M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2409091	NM_032178.3(SLC7A6OS):c.65C>T (p.Ala22Val)	SLC7A6OS (A22V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511225	NM_032178.3(SLC7A6OS):c.59C>T (p.Ala20Val)	SLC7A6OS (A20V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340425	NM_032178.3(SLC7A6OS):c.46A>G (p.Ser16Gly)	SLC7A6OS (S16G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221790	NM_032178.3(SLC7A6OS):c.13A>G (p.Arg5Gly)	SLC7A6OS (R5G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279180	NM_032178.3(SLC7A6OS):c.7G>T (p.Ala3Ser)	SLC7A6OS (A3S)	Single nucleotide variant (missense variant)	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: 68