IWS1[gene] - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153085	GRCh38/hg38 2q14.1-14.3(chr2:115302067-129071130)x1	AMMECR1L, BIN1 +254 more	Copy number loss	See cases	GPathogenic
Select item 60184	GRCh38/hg38 2q14.1-21.3(chr2:118086324-134964738)x1	ACMSD, AMER3 +391 more	Copy number loss	See cases	GPathogenic
Select item 60185	GRCh38/hg38 2q14.3(chr2:121824798-128870804)x1	AMMECR1L, BIN1 +121 more	Copy number loss	See cases	GPathogenic
Select item 60186	GRCh38/hg38 2q14.3(chr2:122324343-128371704)x1	LOC115945190, LOC120961783 +101 more	Copy number loss	See cases	GPathogenic
Select item 148393	GRCh38/hg38 2q14.3-21.1(chr2:122847356-129545581)x1	AMMECR1L, BIN1 +116 more	Copy number loss	See cases	GLikely pathogenic
Select item 146132	GRCh38/hg38 2q14.3(chr2:123169989-128460075)x1	AMMECR1L, BIN1 +100 more	Copy number loss	See cases	GPathogenic
Select item 147544	GRCh38/hg38 2q14.3-22.1(chr2:123445762-140592538)x1	ACMSD, AMER3 +336 more	Copy number loss	See cases	GPathogenic
Select item 1180433	NC_000002.12:g.124348648_129410245del	LOC129934710, LOC129934711 +112 more	Deletion	See cases	Gnot provided
Select item 149324	GRCh38/hg38 2q14.3-21.1(chr2:127063206-130527454)x3	AMMECR1L, BIN1 +125 more	Copy number gain	See cases	GUncertain significance
Select item 3287086	NM_017969.3(IWS1):c.2413G>C (p.Ala805Pro)	IWS1 (A805P)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2237129	NM_017969.3(IWS1):c.2336C>T (p.Ala779Val)	IWS1 (A779V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112043	NM_017969.3(IWS1):c.2147G>A (p.Arg716Gln)	IWS1 (R716Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316576	NM_017969.3(IWS1):c.1994A>G (p.Tyr665Cys)	IWS1 (Y665C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112042	NM_017969.3(IWS1):c.1906G>A (p.Glu636Lys)	IWS1 (E636K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287085	NM_017969.3(IWS1):c.1837A>T (p.Met613Leu)	IWS1 (M613L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411899	NM_017969.3(IWS1):c.1764A>C (p.Leu588Phe)	IWS1 (L588F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287084	NM_017969.3(IWS1):c.1482A>T (p.Glu494Asp)	IWS1 (E494D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293343	NM_017969.3(IWS1):c.1450G>A (p.Glu484Lys)	IWS1 (E484K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112041	NM_017969.3(IWS1):c.1412A>C (p.Asn471Thr)	IWS1 (N471T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511657	NM_017969.3(IWS1):c.1357A>G (p.Asn453Asp)	IWS1 (N453D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287083	NM_017969.3(IWS1):c.1327G>C (p.Glu443Gln)	IWS1 (E443Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388315	NM_017969.3(IWS1):c.1325A>G (p.Glu442Gly)	IWS1 (E442G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 772848	NM_017969.3(IWS1):c.1278A>G (p.Ser426=)	IWS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2522383	NM_017969.3(IWS1):c.1253A>G (p.Asp418Gly)	IWS1 (D418G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467044	NM_017969.3(IWS1):c.1235G>A (p.Arg412His)	IWS1 (R412H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376415	NM_017969.3(IWS1):c.1131T>G (p.Ser377Arg)	IWS1 (S377R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276598	NM_017969.3(IWS1):c.1039G>A (p.Asp347Asn)	IWS1 (D347N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356288	NM_017969.3(IWS1):c.1004G>A (p.Arg335Lys)	IWS1 (R335K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786865	NM_017969.3(IWS1):c.867G>A (p.Ser289=)	IWS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3112048	NM_017969.3(IWS1):c.827C>T (p.Ser276Leu)	IWS1 (S276L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308502	NM_017969.3(IWS1):c.819C>G (p.Ile273Met)	IWS1 (I273M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595085	NM_017969.3(IWS1):c.697C>G (p.Gln233Glu)	IWS1 (Q233E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236491	NM_017969.3(IWS1):c.660G>C (p.Gln220His)	IWS1 (Q220H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112046	NM_017969.3(IWS1):c.638G>T (p.Ser213Ile)	IWS1 (S213I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623923	NM_017969.3(IWS1):c.638G>A (p.Ser213Asn)	IWS1 (S213N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112045	NM_017969.3(IWS1):c.616C>G (p.Pro206Ala)	IWS1 (P206A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524756	NM_017969.3(IWS1):c.596A>C (p.Glu199Ala)	IWS1 (E199A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608197	NM_017969.3(IWS1):c.572C>T (p.Pro191Leu)	IWS1 (P191L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554553	NM_017969.3(IWS1):c.391A>G (p.Ser131Gly)	IWS1 (S131G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2567669	NM_017969.3(IWS1):c.355G>A (p.Asp119Asn)	IWS1 (D119N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296997	NM_017969.3(IWS1):c.341A>T (p.Asn114Ile)	IWS1 (N114I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223079	NM_017969.3(IWS1):c.299G>A (p.Arg100His)	IWS1 (R100H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3112044	NM_017969.3(IWS1):c.224T>C (p.Leu75Ser)	IWS1 (L75S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2315110	NM_017969.3(IWS1):c.218A>G (p.Glu73Gly)	IWS1 (E73G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287082	NM_017969.3(IWS1):c.167G>A (p.Arg56Gln)	IWS1 (R56Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241150	NM_017969.3(IWS1):c.115G>C (p.Gly39Arg)	IWS1 (G39R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112047	NM_017969.3(IWS1):c.67C>T (p.Arg23Trp)	IWS1 (R23W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463432	NM_017969.3(IWS1):c.6C>G (p.Asp2Glu)	IWS1 (D2E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062651	GRCh37/hg19 2q12.2-21.2(chr2:106755586-134302739)x1	ACOXL, ACTR3 +121 more	Copy number loss	not specified	GPathogenic
Select item 3062624	GRCh37/hg19 2q14.3(chr2:125361063-129616153)x3	AMMECR1L, BIN1 +16 more	Copy number gain	not specified	GUncertain significance
Select item 2684675	GRCh37/hg19 2q14.3(chr2:124806439-128906413)x1	AMMECR1L, BIN1 +15 more	Copy number loss	not provided	GUncertain significance
Select item 2422856	NC_000002.11:g.(?_127806102)_(129076137_?)del	AMMECR1L, BIN1 +14 more	Deletion	Thrombophilia due to protein C deficiency, autosomal dominant	GPathogenic
Select item 2422380	NC_000002.11:g.(?_127451420)_(129076137_?)del	AMMECR1L, BIN1 +15 more	Deletion	not provided	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1679114	GRCh37/hg19 2q13-22.3(chr2:112475655-145691999)x3	EPB41L5, ERCC3 +120 more	Copy number gain	2q13q22.3 microduplication syndrome	GPathogenic
Select item 1526896	GRCh37/hg19 2q14.3(chr2:128024782-129332242)	AMMECR1L, ERCC3 +12 more	Copy number gain	not specified	GUncertain significance
Select item 1410231	NC_000002.11:g.(?_127806102)_(128432598_?)del	BIN1, CYP27C1 +7 more	Deletion	Autosomal recessive limb-girdle muscular dystrophy type 2W +1 more	GUncertain significance
Select item 1340017	GRCh37/hg19 2q13-22.3(chr2:111484468-146333604)x3	GPR39, IL1F10 +122 more	Copy number gain	not provided	GPathogenic
Select item 1339988	GRCh37/hg19 2q14.3-22.2(chr2:122699106-143799629)x1	ACMSD, AMER3 +64 more	Copy number loss	not provided	GPathogenic
Select item 929341	GRCh37/hg19 2q14.3-21.2(chr2:122952356-133826358)x1	AMER3, AMMECR1L +44 more	Copy number loss	See cases	GLikely pathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 523163	GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1	CCDC74B, CCDC93 +218 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 441676	GRCh37/hg19 2q14.2-22.1(chr2:120571363-141627287)x1	ACMSD, AMER3 +74 more	Copy number loss	See cases	GPathogenic

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Items: 65