VWC2L[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 152738	GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1	ABCA12, ABI2 +509 more	Copy number loss	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57418	GRCh38/hg38 2q34-35(chr2:213912976-215939299)x3	ABCA12, ATIC +36 more	Copy number gain	See cases	GUncertain significance
Select item 58935	GRCh38/hg38 2q34-35(chr2:214076320-215057802)x3	ABCA12, BARD1 +10 more	Copy number gain	See cases	GUncertain significance
Select item 3189377	NM_001080500.4(VWC2L):c.23C>T (p.Ala8Val)	VWC2L (A8V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527864	NM_001080500.4(VWC2L):c.59C>T (p.Thr20Ile)	VWC2L (T20I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476600	NM_001080500.4(VWC2L):c.119A>G (p.Asn40Ser)	VWC2L (N40S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189376	NM_001080500.4(VWC2L):c.154G>T (p.Gly52Trp)	VWC2L (G52W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333212	NM_001080500.4(VWC2L):c.197G>T (p.Arg66Leu)	VWC2L (R66L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189378	NM_001080500.4(VWC2L):c.482T>C (p.Val161Ala)	VWC2L (V161A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2396910	NM_001080500.4(VWC2L):c.536C>T (p.Ala179Val)	VWC2L (A179V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3332494	NM_001080500.4(VWC2L):c.542C>T (p.Thr181Met)	VWC2L (R138* +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2593975	NM_001080500.4(VWC2L):c.545C>T (p.Thr182Met)	VWC2L (T182M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2369007	NM_001080500.4(VWC2L):c.563T>C (p.Ile188Thr)	VWC2L (I188T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2495148	NM_001080500.4(VWC2L):c.662C>G (p.Thr221Ser)	VWC2L (T221S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3062547	GRCh37/hg19 2q35(chr2:215331571-215452894)x1	VWC2L	Copy number loss	not specified	GUncertain significance
Select item 3062525	GRCh37/hg19 2q35(chr2:215384530-216131507)x3	ABCA12, BARD1 +1 more	Copy number gain	not specified	GUncertain significance
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 2502861	GRCh37/hg19 2q34-35(chr2:215074747-216700700)x1	ABCA12, ATIC +4 more	Copy number loss	See cases	GLikely benign
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 1526950	GRCh37/hg19 2q34-36.1(chr2:215108009-221679980)	AAMP, ABCA12 +72 more	Copy number gain	not specified	GPathogenic
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	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 980007	GRCh37/hg19 2q35(chr2:215334866-215454183)x1	VWC2L	Copy number loss	not provided	GUncertain significance
Select item 980004	GRCh37/hg19 2q34-35(chr2:215122019-220397907)x1	AAMP, ABCA12 +66 more	Copy number loss	not provided	GLikely pathogenic
Select item 814366	GRCh37/hg19 2q35(chr2:215415524-215467512)x1	VWC2L	Copy number loss	not provided	GUncertain significance
Select item 638100	GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3	CTDSP1, NGEF +197 more	Copy number gain	See cases	GPathogenic
Select item 635897	Single allele	ACSL3, ADAM23 +208 more	Duplication	Neurodevelopmental disorder	GPathogenic
Select item 562677	GRCh37/hg19 2q33.3-35(chr2:205169148-219149293)x3	AAMP, ABCA12 +60 more	Copy number gain	not provided	GPathogenic
Select item 562486	GRCh37/hg19 2q35(chr2:215384530-215439184)x1	VWC2L	Copy number loss	not provided	GLikely benign
Select item 443091	GRCh37/hg19 2q34-35(chr2:215224612-216544927)x4	ABCA12, ATIC +4 more	Copy number gain	See cases	GUncertain significance
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 442002	GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3	AAMP, ABCA12 +225 more	Copy number gain	See cases	GPathogenic
Select item 221428	GRCh37/hg19 2q34-35(chr2:211515125-215797412)x3	ABCA12, BARD1 +5 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 40