ClinVar for Gene (Select 8853) - ClinVar

Links from Gene

Items: 94

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3317077	NM_003887.3(ASAP2):c.2566G>T (p.Val856Leu)	ASAP2 (V856L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317066	NM_003887.3(ASAP2):c.2619G>T (p.Gln873His)	ASAP2 (Q873H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317055	NM_003887.3(ASAP2):c.2300T>C (p.Leu767Pro)	ASAP2 (L767P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317045	NM_003887.3(ASAP2):c.1191A>C (p.Glu397Asp)	ASAP2, LOC126806133 (E397D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317035	NM_003887.3(ASAP2):c.1322C>T (p.Ala441Val)	ASAP2, LOC126806133 (A441V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317024	NM_003887.3(ASAP2):c.1580C>T (p.Thr527Ile)	ASAP2 (T527I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317012	NM_003887.3(ASAP2):c.2681C>T (p.Pro894Leu)	ASAP2 (P849L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317001	NM_003887.3(ASAP2):c.2666A>G (p.Gln889Arg)	ASAP2 (Q844R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316981	NM_003887.3(ASAP2):c.1987C>T (p.Arg663Cys)	ASAP2 (R663C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316970	NM_003887.3(ASAP2):c.2357C>G (p.Pro786Arg)	ASAP2 (P786R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	ABHD1, ACP1 +182 more	Copy number gain	See cases	GPathogenic
Select item 3130053	NM_003887.3(ASAP2):c.3010A>G (p.Ile1004Val)	ASAP2 (I1004V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130051	NM_003887.3(ASAP2):c.2663C>T (p.Pro888Leu)	ASAP2 (P843L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130050	NM_003887.3(ASAP2):c.2533A>C (p.Thr845Pro)	ASAP2 (T845P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130049	NM_003887.3(ASAP2):c.2464T>A (p.Ser822Thr)	ASAP2 (S822T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130048	NM_003887.3(ASAP2):c.2450G>A (p.Arg817Gln)	ASAP2 (R817Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130047	NM_003887.3(ASAP2):c.2203G>A (p.Ala735Thr)	ASAP2 (A735T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130046	NM_003887.3(ASAP2):c.2155C>T (p.Arg719Trp)	ASAP2 (R719W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130044	NM_003887.3(ASAP2):c.2042T>A (p.Phe681Tyr)	ASAP2 (F681Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130043	NM_003887.3(ASAP2):c.2032T>C (p.Ser678Pro)	ASAP2 (S678P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130042	NM_003887.3(ASAP2):c.1997A>G (p.His666Arg)	ASAP2 (H666R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130040	NM_003887.3(ASAP2):c.1735G>A (p.Ala579Thr)	ASAP2 (A579T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130039	NM_003887.3(ASAP2):c.1712A>G (p.Asp571Gly)	ASAP2 (D571G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130038	NM_003887.3(ASAP2):c.1711G>A (p.Asp571Asn)	ASAP2 (D571N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130037	NM_003887.3(ASAP2):c.1660G>A (p.Val554Ile)	ASAP2 (V554I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130036	NM_003887.3(ASAP2):c.1349A>G (p.Asn450Ser)	ASAP2 (N450S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062591	GRCh37/hg19 2p25.2-24.1(chr2:6375088-23538518)x3	APOB, ASAP2 +59 more	Copy number gain	not specified	GPathogenic
Select item 2614375	NM_003887.3(ASAP2):c.1885T>C (p.Cys629Arg)	ASAP2 (C629R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570360	NM_003887.3(ASAP2):c.2041T>C (p.Phe681Leu)	ASAP2 (F681L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2567190	NM_003887.3(ASAP2):c.1960G>A (p.Gly654Arg)	ASAP2 (G654R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531351	NM_003887.3(ASAP2):c.1675A>G (p.Ile559Val)	ASAP2 (I559V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518019	NM_003887.3(ASAP2):c.1754A>G (p.Asp585Gly)	ASAP2 (D585G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495815	NM_003887.3(ASAP2):c.1267A>G (p.Ile423Val)	ASAP2, LOC126806133 (I423V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494960	NM_003887.3(ASAP2):c.2143C>T (p.Arg715Trp)	ASAP2 (R715W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485214	NM_003887.3(ASAP2):c.1606G>A (p.Ala536Thr)	ASAP2 (A536T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482594	NM_003887.3(ASAP2):c.367A>G (p.Ile123Val)	ASAP2 (I123V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475452	NM_003887.3(ASAP2):c.1658C>T (p.Ala553Val)	ASAP2 (A553V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468664	NM_003887.3(ASAP2):c.2290G>A (p.Gly764Arg)	ASAP2 (G764R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468317	NM_003887.3(ASAP2):c.1501A>G (p.Met501Val)	ASAP2 (M501V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460060	NM_003887.3(ASAP2):c.2497C>G (p.Pro833Ala)	ASAP2 (P833A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454850	NM_003887.3(ASAP2):c.2623A>G (p.Arg875Gly)	ASAP2 (R830G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426589	NC_000002.11:g.(?_7968276)_(10192634_?)dup	ADAM17, ASAP2 +10 more	Duplication	not provided	GUncertain significance
Select item 2426587	NC_000002.11:g.(?_7968276)_(10192634_?)del	ADAM17, ASAP2 +10 more	Deletion	not provided	GPathogenic
Select item 2410529	NM_003887.3(ASAP2):c.92C>T (p.Ala31Val)	ASAP2 (A31V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391700	NM_003887.3(ASAP2):c.2154C>G (p.Asp718Glu)	ASAP2 (D718E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384448	NM_003887.3(ASAP2):c.1618C>T (p.His540Tyr)	ASAP2 (H540Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380141	NM_003887.3(ASAP2):c.2527A>G (p.Thr843Ala)	ASAP2 (T798A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2378018	NM_003887.3(ASAP2):c.1694C>T (p.Ala565Val)	ASAP2 (A565V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372564	NM_003887.3(ASAP2):c.2565C>G (p.Ser855Arg)	ASAP2 (S810R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366584	NM_003887.3(ASAP2):c.250G>A (p.Gly84Ser)	ASAP2 (G84S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349357	NM_003887.3(ASAP2):c.2479G>A (p.Val827Ile)	ASAP2 (V827I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348578	NM_003887.3(ASAP2):c.1630G>A (p.Ala544Thr)	ASAP2 (A544T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345112	NM_003887.3(ASAP2):c.2545C>T (p.Pro849Ser)	ASAP2 (P804S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343440	NM_003887.3(ASAP2):c.1667C>T (p.Thr556Met)	ASAP2 (T556M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342718	NM_003887.3(ASAP2):c.1901C>T (p.Ala634Val)	ASAP2 (A634V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314546	NM_003887.3(ASAP2):c.2738A>T (p.Asp913Val)	ASAP2 (D868V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312015	NM_003887.3(ASAP2):c.2276A>T (p.Gln759Leu)	ASAP2 (Q759L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300681	NM_003887.3(ASAP2):c.2144G>A (p.Arg715Gln)	ASAP2 (R715Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291460	NM_003887.3(ASAP2):c.2798C>A (p.Ala933Glu)	ASAP2 (A888E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289522	NM_003887.3(ASAP2):c.2132C>T (p.Pro711Leu)	ASAP2 (P711L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264476	NM_003887.3(ASAP2):c.1606G>T (p.Ala536Ser)	ASAP2 (A536S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264349	NM_003887.3(ASAP2):c.826G>A (p.Ala276Thr)	ASAP2 (A276T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263885	NM_003887.3(ASAP2):c.2626C>T (p.Pro876Ser)	ASAP2 (P876S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257476	NM_003887.3(ASAP2):c.1535A>G (p.Lys512Arg)	ASAP2 (K512R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249292	NM_003887.3(ASAP2):c.1292C>T (p.Thr431Met)	ASAP2, LOC126806133 (T431M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238253	NM_003887.3(ASAP2):c.1560T>G (p.Asn520Lys)	ASAP2 (N520K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223862	NM_003887.3(ASAP2):c.2456G>A (p.Arg819Gln)	ASAP2 (R819Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223057	NM_003887.3(ASAP2):c.1924C>T (p.Arg642Trp)	ASAP2 (R642W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221673	NM_003887.3(ASAP2):c.1725A>T (p.Lys575Asn)	ASAP2 (K575N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218322	NM_003887.3(ASAP2):c.2633C>T (p.Pro878Leu)	ASAP2 (P833L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808629	GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3	ABHD1, ADAM17 +177 more	Copy number gain	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 1340405	GRCh37/hg19 2p25.1-24.3(chr2:8935077-15722794)x1	ADAM17, ASAP2 +29 more	Copy number loss	not provided	GUncertain significance
Select item 774808	NM_003887.3(ASAP2):c.1776A>G (p.Ala592=)	ASAP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 767783	NM_003887.3(ASAP2):c.1302C>T (p.Asp434=)	ASAP2, LOC126806133	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 767782	NM_003887.3(ASAP2):c.135C>T (p.Asp45=)	ASAP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 725859	NM_003887.3(ASAP2):c.1653C>T (p.Cys551=)	ASAP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 712925	NM_003887.3(ASAP2):c.2603C>T (p.Pro868Leu)	ASAP2 (P868L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 443675	GRCh37/hg19 2p25.3-24.1(chr2:12770-20081474)x3	ACP1, ADAM17 +65 more	Copy number gain	See cases	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 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 153520	GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3	LOC129933244, LOC129933245 +653 more	Copy number gain	See cases	GPathogenic
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806103, LOC126806104 +1047 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 152693	GRCh38/hg38 2p25.3-24.1(chr2:17019-20001056)x3	ACP1, ADAM17 +498 more	Copy number gain	See cases	GPathogenic
Select item 151155	GRCh38/hg38 2p25.1(chr2:8397352-9440634)x4	ASAP2, CPSF3 +49 more	Copy number gain	See cases	GUncertain significance
Select item 148848	GRCh38/hg38 2p25.3-24.1(chr2:1664615-23664142)x3	ADAM17, ADI1 +546 more	Copy number gain	See cases	GPathogenic
Select item 148269	GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3	LOC129933186, LOC129933187 +736 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	ABHD1, ACP1 +893 more	Copy number gain	See cases	GPathogenic
Select item 60105	GRCh38/hg38 2p25.2-24.3(chr2:6531172-16103799)x1	ADAM17, ASAP2 +297 more	Copy number loss	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 59132	GRCh38/hg38 2p25.3-25.1(chr2:50661-9652907)x3	LOC129933017, LOC129933018 +237 more	Copy number gain	See cases	GPathogenic
Select item 59131	GRCh38/hg38 2p25.3-24.3(chr2:30342-14866951)x3	ACP1, ADAM17 +413 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 94