ClinVar for Gene (Select 343930) - ClinVar

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Links from Gene

Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2542365	NM_001105569.3(MSGN1):c.320G>A (p.Gly107Asp)	MSGN1 (G107D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522663	NM_001105569.3(MSGN1):c.11T>G (p.Leu4Arg)	MSGN1 (L4R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516087	NM_001105569.3(MSGN1):c.82G>T (p.Asp28Tyr)	MSGN1 (D28Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495774	NM_001105569.3(MSGN1):c.137G>A (p.Ser46Asn)	MSGN1 (S46N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363247	NM_001105569.3(MSGN1):c.475G>A (p.Gly159Ser)	MSGN1 (G159S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354610	NM_001105569.3(MSGN1):c.120G>C (p.Gln40His)	MSGN1 (Q40H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302947	NM_001105569.3(MSGN1):c.18G>C (p.Glu6Asp)	MSGN1 (E6D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263740	NM_001105569.3(MSGN1):c.167A>C (p.Tyr56Ser)	MSGN1 (Y56S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238447	NM_001105569.3(MSGN1):c.551G>A (p.Arg184His)	MSGN1 (R184H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227906	NM_001105569.3(MSGN1):c.253G>A (p.Gly85Ser)	MSGN1 (G85S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2204779	NM_001105569.3(MSGN1):c.352A>G (p.Lys118Glu)	MSGN1 (K118E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	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 1180531	GRCh37/hg19 2p24.3-24.1(chr2:15640273-19609496)x1	CYRIA, DDX1 +13 more	Copy number loss	not provided	GPathogenic
Select item 979980	GRCh37/hg19 2p24.2(chr2:17846161-18720906)x3	GEN1, KCNS3 +2 more	Copy number gain	not provided	GUncertain significance
Select item 687179	GRCh37/hg19 2p24.3-24.1(chr2:15631145-21729493)x1	APOB, CYRIA +25 more	Copy number loss	not provided	GPathogenic
Select item 686578	GRCh37/hg19 2p24.3-24.2(chr2:12269293-18259781)x3	CYRIA, DDX1 +11 more	Copy number gain	not provided	GPathogenic
Select item 562638	GRCh37/hg19 2p24.2(chr2:16926193-18225507)x3	MSGN1, KCNS3 +4 more	Copy number gain	not provided	GLikely benign
Select item 446356	GRCh37/hg19 2p24.2(chr2:17814030-18851257)x3	GEN1, KCNS3 +6 more	Copy number gain	See cases	GUncertain significance
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)	DCAF17, DCDC2C +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	AAK1, AAMP +1214 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	ABCG5, ABCG8 +1400 more	Copy number gain	See cases	GPathogenic
Select item 153520	GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3	LOC129932995, LOC129932996 +653 more	Copy number gain	See cases	GPathogenic
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806176, LOC126806177 +1047 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC129934199, LOC129934200 +2457 more	Copy number gain	See cases	GBenign
Select item 152693	GRCh38/hg38 2p25.3-24.1(chr2:17019-20001056)x3	LOC129933180, LOC129933181 +498 more	Copy number gain	See cases	GPathogenic
Select item 150627	GRCh38/hg38 2p24.2-24.1(chr2:16723596-21600734)x1	HS1BP3, APOB +131 more	Copy number loss	See cases	GPathogenic
Select item 148848	GRCh38/hg38 2p25.3-24.1(chr2:1664615-23664142)x3	LOC126806154, LOC126806155 +546 more	Copy number gain	See cases	GPathogenic
Select item 148269	GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3	ACP1, ADAM17 +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 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933242, LOC129933243 +1631 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 34