CWC22[gene] - ClinVar

Search results

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60248	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	ABCB11, AGPS +488 more	Copy number loss	See cases	GPathogenic
Select item 60253	GRCh38/hg38 2q31.1-32.1(chr2:170407688-186189894)x1	AGPS, ATF2 +411 more	Copy number loss	See cases	GPathogenic
Select item 147692	GRCh38/hg38 2q31.1-32.2(chr2:171429233-189179568)x1	AGPS, ATF2 +417 more	Copy number loss	See cases	GPathogenic
Select item 155530	GRCh38/hg38 2q31.1-31.3(chr2:174236451-181188846)x1	AGPS, ATF2 +224 more	Copy number loss	See cases	GPathogenic
Select item 147705	GRCh38/hg38 2q31.1-32.2(chr2:174634502-189000964)x1	AGPS, ATF2 +307 more	Copy number loss	See cases	GPathogenic
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	LOC129935164, LOC129935165 +697 more	Copy number loss	See cases	GPathogenic
Select item 155417	GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1	AGPS, ANKAR +377 more	Copy number loss	See cases	GPathogenic
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 153288	GRCh38/hg38 2q31.2-32.3(chr2:177827730-195125329)x1	ANKAR, ASDURF +312 more	Copy number loss	See cases	GPathogenic
Select item 58771	GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1	ANKAR, ANKRD44 +430 more	Copy number loss	See cases	GPathogenic
Select item 58772	GRCh38/hg38 2q31.2-32.1(chr2:178880151-185352829)x1	CCDC141, CERKL +104 more	Copy number loss	See cases	GPathogenic
Select item 150677	GRCh38/hg38 2q31.3(chr2:179732688-180780475)x3	CWC22, EPCART +8 more	Copy number gain	See cases	GLikely benign
Select item 3079089	NM_020943.3(CWC22):c.2702A>G (p.Glu901Gly)	CWC22 (E860G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517832	NM_020943.3(CWC22):c.2626G>A (p.Glu876Lys)	CWC22 (E835K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270367	NM_020943.3(CWC22):c.2608A>G (p.Arg870Gly)	CWC22 (R870G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349024	NM_020943.3(CWC22):c.2587G>C (p.Gly863Arg)	CWC22 (G822R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477672	NM_020943.3(CWC22):c.2539A>G (p.Arg847Gly)	CWC22 (R806G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276565	NM_020943.3(CWC22):c.2507A>G (p.His836Arg)	CWC22 (H795R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592328	NM_020943.3(CWC22):c.2506C>T (p.His836Tyr)	CWC22 (H795Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299737	NM_020943.3(CWC22):c.2469A>T (p.Arg823Ser)	CWC22 (R782S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079087	NM_020943.3(CWC22):c.2447A>G (p.His816Arg)	CWC22 (H775R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347873	NM_020943.3(CWC22):c.2393G>A (p.Ser798Asn)	CWC22 (S757N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3270365	NM_020943.3(CWC22):c.2314T>G (p.Ser772Ala)	CWC22 (S772A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 709625	NM_020943.3(CWC22):c.2222A>T (p.Asp741Val)	CWC22 (D700V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3079086	NM_020943.3(CWC22):c.2215A>G (p.Thr739Ala)	CWC22 (T698A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079085	NM_020943.3(CWC22):c.2200A>G (p.Ile734Val)	CWC22 (I693V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234843	NM_020943.3(CWC22):c.2185G>A (p.Glu729Lys)	CWC22 (E729K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2565685	NM_020943.3(CWC22):c.2173A>G (p.Thr725Ala)	CWC22 (T725A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079084	NM_020943.3(CWC22):c.2100G>C (p.Glu700Asp)	CWC22 (E659D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458904	NM_020943.3(CWC22):c.2099A>G (p.Glu700Gly)	CWC22 (E659G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079082	NM_020943.3(CWC22):c.2084A>C (p.Glu695Ala)	CWC22 (E654A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468357	NM_020943.3(CWC22):c.2060C>G (p.Ser687Cys)	CWC22 (S646C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403041	NM_020943.3(CWC22):c.2054C>G (p.Ser685Cys)	CWC22 (S644C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411344	NM_020943.3(CWC22):c.1961T>C (p.Ile654Thr)	CWC22 (I613T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270366	NM_020943.3(CWC22):c.1849C>T (p.Pro617Ser)	CWC22 (P576S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457019	NM_020943.3(CWC22):c.1793A>G (p.Lys598Arg)	CWC22 (K557R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079081	NM_020943.3(CWC22):c.1783G>C (p.Gly595Arg)	CWC22 (G595R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392718	NM_020943.3(CWC22):c.1780A>G (p.Met594Val)	CWC22 (M594V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332602	NM_020943.3(CWC22):c.1702A>G (p.Ile568Val)	CWC22 (I568V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309789	NM_020943.3(CWC22):c.1678C>T (p.Leu560Phe)	CWC22 (L560F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326769	NM_020943.3(CWC22):c.1511A>C (p.Glu504Ala)	CWC22 (E504A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270364	NM_020943.3(CWC22):c.1439A>C (p.Glu480Ala)	CWC22 (E480A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253835	NM_020943.3(CWC22):c.1370G>A (p.Arg457His)	CWC22 (R416H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407761	NM_020943.3(CWC22):c.1367G>A (p.Arg456His)	CWC22 (R415H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278415	NM_020943.3(CWC22):c.1295A>C (p.Glu432Ala)	CWC22 (E432A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454276	NM_020943.3(CWC22):c.1255G>A (p.Ala419Thr)	CWC22 (A378T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079080	NM_020943.3(CWC22):c.1250A>G (p.Gln417Arg)	CWC22 (Q376R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709626	NM_020943.3(CWC22):c.1147+2dup	CWC22	Duplication (splice donor variant)	not provided	GBenign
Select item 720150	NM_020943.3(CWC22):c.1095A>G (p.Gln365=)	CWC22	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2340967	NM_020943.3(CWC22):c.1027C>T (p.Arg343Trp)	CWC22 (R302W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079077	NM_020943.3(CWC22):c.1017G>T (p.Met339Ile)	CWC22 (M339I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315926	NM_020943.3(CWC22):c.989A>G (p.Lys330Arg)	CWC22 (K289R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079099	NM_020943.3(CWC22):c.965T>C (p.Ile322Thr)	CWC22 (I322T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079098	NM_020943.3(CWC22):c.953G>A (p.Arg318His)	CWC22 (R318H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222214	NM_020943.3(CWC22):c.832C>T (p.Leu278Phe)	CWC22 (L237F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544279	NM_020943.3(CWC22):c.831G>A (p.Met277Ile)	CWC22 (M236I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079097	NM_020943.3(CWC22):c.791T>C (p.Ile264Thr)	CWC22 (I223T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079096	NM_020943.3(CWC22):c.737G>A (p.Arg246Gln)	CWC22 (R246Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304379	NM_020943.3(CWC22):c.736C>G (p.Arg246Gly)	CWC22 (R205G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079095	NM_020943.3(CWC22):c.704A>G (p.Lys235Arg)	CWC22 (K235R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 723001	NM_020943.3(CWC22):c.648A>G (p.Ala216=)	CWC22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3079094	NM_020943.3(CWC22):c.475T>C (p.Trp159Arg)	CWC22 (W118R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270363	NM_020943.3(CWC22):c.383G>C (p.Arg128Pro)	CWC22 (R128P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509964	NM_020943.3(CWC22):c.380C>T (p.Thr127Ile)	CWC22 (T127I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298163	NM_020943.3(CWC22):c.368A>C (p.Asp123Ala)	CWC22 (D123A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079092	NM_020943.3(CWC22):c.353A>G (p.Lys118Arg)	CWC22 (K118R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312527	NM_020943.3(CWC22):c.343A>G (p.Thr115Ala)	CWC22 (T74A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3079091	NM_020943.3(CWC22):c.329A>T (p.Gln110Leu)	CWC22 (Q110L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079090	NM_020943.3(CWC22):c.319T>A (p.Ser107Thr)	CWC22 (S107T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220149	NM_020943.3(CWC22):c.265C>T (p.Arg89Trp)	CWC22 (R48W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354860	NM_020943.3(CWC22):c.254G>A (p.Arg85Gln)	CWC22 (R85Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079088	NM_020943.3(CWC22):c.253C>T (p.Arg85Trp)	CWC22 (R85W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455310	NM_020943.3(CWC22):c.248C>T (p.Thr83Met)	CWC22 (T42M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2235768	NM_020943.3(CWC22):c.221A>G (p.Glu74Gly)	CWC22 (E74G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373756	NM_020943.3(CWC22):c.218G>A (p.Arg73Gln)	CWC22 (R73Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515033	NM_020943.3(CWC22):c.179G>A (p.Arg60His)	CWC22 (R19H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2267907	NM_020943.3(CWC22):c.122G>A (p.Arg41Gln)	CWC22 (R41Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079079	NM_020943.3(CWC22):c.119C>T (p.Pro40Leu)	CWC22 (P40L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079078	NM_020943.3(CWC22):c.119C>G (p.Pro40Arg)	CWC22 (P40R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079100	NM_020943.3(CWC22):c.98A>G (p.Tyr33Cys)	CWC22 (Y33C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311514	NM_020943.3(CWC22):c.50G>C (p.Arg17Thr)	CWC22 (R17T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079093	NM_020943.3(CWC22):c.40C>G (p.His14Asp)	CWC22 (H14D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079083	NM_020943.3(CWC22):c.20A>C (p.Gln7Pro)	CWC22 (Q7P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808725	GRCh37/hg19 2q31.1-31.3(chr2:175143352-180999636)x1	AGPS, ATF2 +38 more	Copy number loss	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 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 1047877	GRCh37/hg19 2q31.1-31.3(chr2:171999572-182774361)	PJVK, RBM45 +60 more	Copy number loss	3-4 finger osseus syndactyly +1 more	GPathogenic
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 981210	GRCh37/hg19 2q24.2-31.3(chr2:163078055-182119617)x1	ABCB11, AGPS +97 more	Copy number loss	2q24 microdeletion syndrome	GPathogenic
Select item 979389	GRCh37/hg19 2q31.2-32.1(chr2:180266166-183403506)x3	UBE2E3, CERKL +8 more	Copy number gain	not provided	GUncertain significance
Select item 814351	GRCh37/hg19 2q31.2-31.3(chr2:180557719-180850879)x3	CWC22, MIR1258 +1 more	Copy number gain	not provided	GUncertain significance
Select item 814347	GRCh37/hg19 2q31.1-32.3(chr2:174690039-195521582)x1	AGPS, ANKAR +86 more	Copy number loss	not provided	GPathogenic
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 687825	GRCh37/hg19 2q31.2-31.3(chr2:180161580-181127178)x1	CWC22, MIR1258 +1 more	Copy number loss	not provided	GUncertain significance
Select item 687517	GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1	ABCB11, AGPS +125 more	Copy number loss	not provided	GPathogenic
Select item 685829	GRCh37/hg19 2q31.1-32.1(chr2:173538954-186401606)x1	AGPS, ATF2 +56 more	Copy number loss	not provided	GPathogenic
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 253638	GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3	ABCB11, ACVR1 +129 more	Copy number gain	See cases	GPathogenic
Select item 252975	GRCh37/hg19 2q31.1-32.3(chr2:177315153-196375520)x1	AGPS, ANKAR +62 more	Copy number loss	See cases	GPathogenic

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Items: 100