12690[HGNC] - ClinVar - NCBI

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	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 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 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC110120629, LOC110120691 +986 more	Copy number gain	See cases	GPathogenic
Select item 2535639	NM_007127.3(VIL1):c.14G>T (p.Ser5Ile)	VIL1 (S5I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049803	NM_007127.3(VIL1):c.16G>A (p.Ala6Thr)	VIL1 (A6T)	Single nucleotide variant (missense variant)	VIL1-related disorder	GLikely benign
Select item 3040233	NM_007127.3(VIL1):c.75+8C>G	VIL1	Single nucleotide variant (intron variant)	VIL1-related disorder	GLikely benign
Select item 2243301	NM_007127.3(VIL1):c.104G>A (p.Ser35Asn)	VIL1 (S35N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053798	NM_007127.3(VIL1):c.128G>A (p.Gly43Asp)	VIL1 (G43D)	Single nucleotide variant (missense variant)	VIL1-related disorder	GBenign
Select item 3188535	NM_007127.3(VIL1):c.183C>A (p.Asp61Glu)	VIL1 (D61E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3347001	NM_007127.3(VIL1):c.241T>C (p.Tyr81His)	VIL1 (Y81H)	Single nucleotide variant (missense variant)	VIL1-related disorder	GUncertain significance
Select item 3033712	NM_007127.3(VIL1):c.274C>T (p.Arg92Trp)	VIL1 (R92W)	Single nucleotide variant (missense variant)	VIL1-related disorder	GBenign
Select item 3188539	NM_007127.3(VIL1):c.275G>A (p.Arg92Gln)	VIL1 (R92Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362065	NM_007127.3(VIL1):c.296T>C (p.Val99Ala)	VIL1 (V99A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188540	NM_007127.3(VIL1):c.352C>T (p.Arg118Trp)	VIL1 (R118W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514748	NM_007127.3(VIL1):c.361G>T (p.Gly121Cys)	VIL1 (G121C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406601	NM_007127.3(VIL1):c.419T>C (p.Leu140Pro)	VIL1 (L140P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226486	NM_007127.3(VIL1):c.485G>A (p.Arg162Gln)	VIL1 (R162Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465937	NM_007127.3(VIL1):c.493G>A (p.Val165Ile)	VIL1 (V165I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345915	NM_007127.3(VIL1):c.516G>T (p.Lys172Asn)	VIL1 (K172N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049980	NM_007127.3(VIL1):c.568-3C>T	VIL1	Single nucleotide variant (intron variant)	VIL1-related disorder	GLikely benign
Select item 2209068	NM_007127.3(VIL1):c.593G>A (p.Arg198Gln)	VIL1 (R198Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297971	NM_007127.3(VIL1):c.599A>G (p.Gln200Arg)	VIL1 (Q200R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387577	NM_007127.3(VIL1):c.605G>A (p.Arg202Gln)	VIL1 (R202Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188542	NM_007127.3(VIL1):c.659C>G (p.Pro220Arg)	VIL1 (P220R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384213	NM_007127.3(VIL1):c.659C>T (p.Pro220Leu)	VIL1 (P220L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329614	NM_007127.3(VIL1):c.682C>T (p.His228Tyr)	VIL1 (H228Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 378854	NM_007127.3(VIL1):c.684C>A (p.His228Gln)	VIL1 (H228Q)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 2525886	NM_007127.3(VIL1):c.718G>A (p.Val240Met)	VIL1 (V240M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344333	NM_007127.3(VIL1):c.724G>A (p.Asp242Asn)	VIL1 (D242N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188543	NM_007127.3(VIL1):c.749A>G (p.Lys250Arg)	VIL1 (K250R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188544	NM_007127.3(VIL1):c.755C>T (p.Ala252Val)	VIL1 (A252V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783128	NM_007127.3(VIL1):c.772G>C (p.Val258Leu)	VIL1 (V258L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2316473	NM_007127.3(VIL1):c.908C>T (p.Ala303Val)	VIL1 (A303V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606554	NM_007127.3(VIL1):c.932C>G (p.Ala311Gly)	VIL1 (A311G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476858	NM_007127.3(VIL1):c.939C>A (p.Ser313Arg)	VIL1 (S313R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037404	NM_007127.3(VIL1):c.948+3A>T	VIL1	Single nucleotide variant (intron variant)	VIL1-related disorder	GLikely benign
Select item 2591049	NM_007127.3(VIL1):c.985C>A (p.Gln329Lys)	VIL1 (Q329K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379609	NM_007127.3(VIL1):c.1021G>A (p.Val341Ile)	VIL1 (V341I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188529	NM_007127.3(VIL1):c.1051G>A (p.Ala351Thr)	VIL1 (A351T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188530	NM_007127.3(VIL1):c.1052C>T (p.Ala351Val)	VIL1 (A351V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3332052	NM_007127.3(VIL1):c.1108G>T (p.Val370Leu)	VIL1 (V370L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332050	NM_007127.3(VIL1):c.1123T>G (p.Phe375Val)	VIL1 (F375V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355526	NM_007127.3(VIL1):c.1156G>A (p.Val386Met)	VIL1 (V386M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039037	NM_007127.3(VIL1):c.1200G>A (p.Val400=)	VIL1	Single nucleotide variant (synonymous variant)	VIL1-related disorder	GLikely benign
Select item 3332051	NM_007127.3(VIL1):c.1204G>C (p.Val402Leu)	VIL1 (V402L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348737	NM_007127.3(VIL1):c.1211G>A (p.Arg404His)	VIL1 (R404H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188531	NM_007127.3(VIL1):c.1221C>A (p.Asn407Lys)	VIL1 (N407K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376171	NM_007127.3(VIL1):c.1247A>G (p.Lys416Arg)	VIL1 (K416R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188532	NM_007127.3(VIL1):c.1249T>C (p.Trp417Arg)	VIL1 (W417R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048304	NM_007127.3(VIL1):c.1329C>T (p.Leu443=)	VIL1	Single nucleotide variant (synonymous variant)	VIL1-related disorder	GLikely benign
Select item 2302195	NM_007127.3(VIL1):c.1396C>G (p.Leu466Val)	VIL1 (L466V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473535	NM_007127.3(VIL1):c.1441A>G (p.Met481Val)	VIL1 (M481V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052373	NM_007127.3(VIL1):c.1473C>T (p.Ile491=)	VIL1	Single nucleotide variant (synonymous variant)	VIL1-related disorder	GLikely benign
Select item 546889	NM_007127.3(VIL1):c.1514G>A (p.Arg505Gln)	VIL1 (R505Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2590020	NM_007127.3(VIL1):c.1580A>C (p.Asn527Thr)	VIL1 (N527T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188533	NM_007127.3(VIL1):c.1642C>A (p.Leu548Ile)	VIL1 (L548I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350492	NM_007127.3(VIL1):c.1700G>A (p.Arg567Gln)	VIL1 (R567Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332049	NM_007127.3(VIL1):c.1714A>G (p.Met572Val)	VIL1 (M572V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338924	NM_007127.3(VIL1):c.1735C>T (p.Arg579Trp)	VIL1 (R579W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783129	NM_007127.3(VIL1):c.1779C>A (p.Asn593Lys)	VIL1 (N593K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2400795	NM_007127.3(VIL1):c.1805C>A (p.Ala602Asp)	VIL1 (A602D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188534	NM_007127.3(VIL1):c.1820C>T (p.Thr607Ile)	VIL1 (T607I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042995	NM_007127.3(VIL1):c.1849A>G (p.Ile617Val)	VIL1 (I617V)	Single nucleotide variant (missense variant)	VIL1-related disorder	GLikely benign
Select item 783207	NM_007127.3(VIL1):c.1888C>T (p.Arg630Cys)	VIL1 (R630C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 785992	NM_007127.3(VIL1):c.2019C>T (p.Ala673=)	VIL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3188536	NM_007127.3(VIL1):c.2081C>G (p.Pro694Arg)	VIL1 (P694R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469804	NM_007127.3(VIL1):c.2093T>C (p.Val698Ala)	VIL1 (V698A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188537	NM_007127.3(VIL1):c.2106C>T (p.His702=)	VIL1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3349010	NM_007127.3(VIL1):c.2115dup (p.Thr706fs)	VIL1 (T706fs)	Duplication (frameshift variant)	VIL1-related disorder	GUncertain significance
Select item 2343758	NM_007127.3(VIL1):c.2179G>C (p.Asp727His)	VIL1 (D727H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188538	NM_007127.3(VIL1):c.2227G>A (p.Ala743Thr)	VIL1 (A743T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042668	NM_007127.3(VIL1):c.2229+8C>T	VIL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3332053	NM_007127.3(VIL1):c.2296A>G (p.Ile766Val)	VIL1 (I766V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329905	NM_007127.3(VIL1):c.2405T>C (p.Phe802Ser)	VIL1 (F802S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229831	NM_007127.3(VIL1):c.2441G>A (p.Arg814Gln)	VIL1 (R814Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	GPathogenic
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 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526952	GRCh37/hg19 2q35(chr2:218210665-220141650)	AAMP, ABCB6 +42 more	Copy number gain	not specified	GUncertain significance
Select item 1526950	GRCh37/hg19 2q34-36.1(chr2:215108009-221679980)	AAMP, ABCA12 +72 more	Copy number gain	not specified	GPathogenic
Select item 1434778	NC_000002.11:g.(?_218999525)_(220435954_?)dup	AAMP, ABCB6 +50 more	Duplication	Alacrima, achalasia, and intellectual disability syndrome +1 more	GUncertain significance
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 980004	GRCh37/hg19 2q34-35(chr2:215122019-220397907)x1	AAMP, ABCA12 +66 more	Copy number loss	not provided	GLikely pathogenic
Select item 816573	GRCh37/hg19 2q35(chr2:216883237-220953003)x3	CXCR2, FEV +65 more	Copy number gain	not provided	GPathogenic
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 625776	GRCh37/hg19 2q35(chr2:218271898-219825640)	AAMP, ARPC2 +26 more	Copy number gain	not provided	GLikely pathogenic
Select item 583449	NC_000002.11:g.(?_219135239)_(220290732_?)del	CNPPD1, DNAJB2 +39 more	Deletion	Desmin-related myofibrillar myopathy	GPathogenic
Select item 562681	GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3	ABCB6, ACKR3 +183 more	Copy number gain	not provided	GPathogenic
Select item 562674	GRCh37/hg19 2q35-36.3(chr2:218813434-227450699)x1	AAMP, ABCB6 +71 more	Copy number loss	not provided	GPathogenic
Select item 562550	GRCh37/hg19 2q35(chr2:219139778-219368933)x3	CTDSP1, CATIP +6 more	Copy number gain	not provided	GUncertain significance
Select item 493568	GRCh37/hg19 2q35-36.3(chr2:217374144-227643620)x1	IRS1, KCNE4 +77 more	Copy number loss	not provided	GLikely pathogenic
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 442382	GRCh37/hg19 2q35(chr2:219275536-220266647)x3	ABCB6, ANKZF1 +32 more	Copy number gain	See cases	GUncertain significance

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