CTSW[gene] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154814	GRCh38/hg38 11q13.1-13.2(chr11:65741431-67705669)x1	GAL3ST3, GPR152 +282 more	Copy number loss	See cases	GPathogenic
Select item 644273	NC_000011.9:g.(?_65633902)_(66115026_?)dup	B4GAT1, BRMS1 +72 more	Duplication	Cutis laxa, autosomal recessive, type 1B	GUncertain significance
Select item 3078801	NM_001335.4(CTSW):c.22T>C (p.Ser8Pro)	CTSW (S8P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2641975	NM_001335.4(CTSW):c.29_36del (p.Leu10fs)	CTSW (L10fs)	Deletion (frameshift variant)	not provided	GLikely benign
Select item 3078797	NM_001335.4(CTSW):c.121G>A (p.Ala41Thr)	CTSW (A41T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078798	NM_001335.4(CTSW):c.122C>A (p.Ala41Asp)	CTSW (A41D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078799	NM_001335.4(CTSW):c.190G>C (p.Asp64His)	CTSW (D64H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402839	NM_001335.4(CTSW):c.193A>T (p.Ile65Phe)	CTSW (I65F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286480	NM_001335.4(CTSW):c.194T>A (p.Ile65Asn)	CTSW (I65N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078800	NM_001335.4(CTSW):c.211G>A (p.Ala71Thr)	CTSW (A71T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 58163	GRCh38/hg38 11q13.1(chr11:65881597-65893890)x3	CCDC85B, CTSW +8 more	Copy number gain	See cases	GUncertain significance
Select item 3270244	NM_001335.4(CTSW):c.320G>A (p.Arg107Lys)	CTSW (R107K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330423	NM_001335.4(CTSW):c.326C>G (p.Ala109Gly)	CTSW (A109G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618544	NM_001335.4(CTSW):c.334G>A (p.Val112Ile)	CTSW (V112I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230266	NM_001335.4(CTSW):c.341G>A (p.Ser114Asn)	CTSW (S114N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282115	NM_001335.4(CTSW):c.418G>A (p.Ala140Thr)	CTSW (A140T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078802	NM_001335.4(CTSW):c.421A>G (p.Ile141Val)	CTSW (I141V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324210	NM_001335.4(CTSW):c.485T>G (p.Ile162Arg)	CTSW (I162R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359263	NM_001335.4(CTSW):c.494T>C (p.Leu165Pro)	CTSW (L165P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332309	NM_001335.4(CTSW):c.499C>T (p.Arg167Cys)	CTSW (R167C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078803	NM_001335.4(CTSW):c.521T>C (p.Val174Ala)	CTSW (V174A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282456	NM_001335.4(CTSW):c.526G>A (p.Val176Ile)	CTSW (V176I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270242	NM_001335.4(CTSW):c.532G>T (p.Val178Leu)	CTSW (V178L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373364	NM_001335.4(CTSW):c.532G>A (p.Val178Met)	CTSW (V178M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461922	NM_001335.4(CTSW):c.549C>A (p.Asp183Glu)	CTSW (D183E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078804	NM_001335.4(CTSW):c.557G>A (p.Arg186His)	CTSW (R186H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078805	NM_001335.4(CTSW):c.617A>G (p.Asn206Ser)	CTSW (N206S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474863	NM_001335.4(CTSW):c.731A>C (p.Gln244Pro)	CTSW (Q244P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2456559	NM_001335.4(CTSW):c.782C>T (p.Thr261Ile)	CTSW (T261I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270243	NM_001335.4(CTSW):c.790A>G (p.Ile264Val)	CTSW (I264V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307707	NM_001335.4(CTSW):c.795C>G (p.Asn265Lys)	CTSW (N265K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078806	NM_001335.4(CTSW):c.797T>C (p.Met266Thr)	CTSW (M266T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078807	NM_001335.4(CTSW):c.800A>C (p.Lys267Thr)	CTSW (K267T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078808	NM_001335.4(CTSW):c.818G>A (p.Arg273Gln)	CTSW (R273Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3270245	NM_001335.4(CTSW):c.916G>A (p.Gly306Arg)	CTSW (G306R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406421	NM_001335.4(CTSW):c.1030C>T (p.Arg344Trp)	CTSW (R344W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078795	NM_001335.4(CTSW):c.1073C>T (p.Pro358Leu)	CTSW (P358L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078796	NM_001335.4(CTSW):c.1085G>A (p.Arg362His)	CTSW (R362H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478988	NM_001335.4(CTSW):c.1108C>T (p.Pro370Ser)	CTSW (P370S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2424770	NC_000011.9:g.(?_64973914)_(70052579_?)dup	ACTN3, ACY3 +124 more	Duplication	Aicardi-Goutieres syndrome 3 +1 more	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527644	GRCh37/hg19 11q13.1-13.2(chr11:64935724-66405514)	ACTN3, AP5B1 +63 more	Copy number loss	not specified	GUncertain significance
Select item 1449359	NC_000011.9:g.(?_64522783)_(66283694_?)del	AP5B1, ARL2 +81 more	Deletion	Bardet-Biedl syndrome +1 more	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 685329	GRCh37/hg19 11q13.1(chr11:65529506-65649002)x3	AP5B1, CFL1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 625593	GRCh37/hg19 11q13.1-13.2(chr11:65138976-67574402)	ACTN3, ACY3 +94 more	Copy number gain	not provided	GPathogenic
Select item 443398	GRCh37/hg19 11q13.1-13.2(chr11:64501919-67129258)x3	ACTN3, ANKRD13D +104 more	Copy number gain	See cases	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic

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Items: 51