ClinVar for Gene (Select 306) - ClinVar

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Links from Gene

Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062791	GRCh37/hg19 4q21.21(chr4:79086702-80588739)x1	ANXA3, BMP2K +4 more	Copy number loss	not specified	GUncertain significance
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	TMA16, CXCL1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2621414	NM_005139.3(ANXA3):c.169G>T (p.Val57Phe)	ANXA3 (V57F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605938	NM_005139.3(ANXA3):c.415A>G (p.Ser139Gly)	ANXA3 (S139G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592125	NM_005139.3(ANXA3):c.766G>A (p.Glu256Lys)	ANXA3 (E256K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569753	NM_005139.3(ANXA3):c.439G>A (p.Glu147Lys)	ANXA3 (E147K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516113	NM_005139.3(ANXA3):c.580G>A (p.Glu194Lys)	ANXA3 (E194K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480946	NM_005139.3(ANXA3):c.662A>C (p.Gln221Pro)	ANXA3 (Q221P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476351	NM_005139.3(ANXA3):c.14G>C (p.Trp5Ser)	ANXA3 (W5S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460773	NM_005139.3(ANXA3):c.316G>A (p.Ala106Thr)	ANXA3 (A106T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2403776	NM_005139.3(ANXA3):c.821G>C (p.Arg274Pro)	ANXA3 (R274P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2395742	NM_005139.3(ANXA3):c.547T>C (p.Tyr183His)	ANXA3 (Y183H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355444	NM_005139.3(ANXA3):c.562A>G (p.Asn188Asp)	ANXA3 (N188D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300371	NM_005139.3(ANXA3):c.422G>A (p.Gly141Glu)	ANXA3 (G141E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286357	NM_005139.3(ANXA3):c.496G>A (p.Glu166Lys)	ANXA3 (E166K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252084	NM_005139.3(ANXA3):c.914C>T (p.Ser305Leu)	ANXA3 (S305L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246881	NM_005139.3(ANXA3):c.271C>G (p.Pro91Ala)	ANXA3 (P91A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1684642	NC_000004.12:g.67833055_82716065del	FDCSP, FGF5 +330 more	Deletion	See cases	GPathogenic
Select item 1527099	GRCh37/hg19 4q21.1-21.21(chr4:78671333-79679677)	ANXA3, CNOT6L +2 more	Copy number gain	not specified	GUncertain significance
Select item 1527097	GRCh37/hg19 4q13.3-22.1(chr4:75737340-91131156)	ABCG2, ABRAXAS1 +91 more	Copy number gain	not specified	GPathogenic
Select item 1527095	GRCh37/hg19 4q13.3-21.21(chr4:73055313-80083154)	CXCL5, CXCL6 +51 more	Copy number loss	not specified	GPathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 983172	GRCh37/hg19 4q13.3-21.3(chr4:71412409-87920784)x1	ABRAXAS1, ADAMTS3 +97 more	Copy number loss	See cases	GPathogenic
Select item 814566	GRCh37/hg19 4q13.3-21.23(chr4:72680879-86426232)x1	CXCL3, LIN54 +82 more	Copy number loss	not provided	GPathogenic
Select item 814563	GRCh37/hg19 4q13.2-21.21(chr4:68950363-79738598)x1	ADAMTS3, AFM +92 more	Copy number loss	not provided	GPathogenic
Select item 775990	NM_005139.3(ANXA3):c.656T>A (p.Ile219Asn)	ANXA3 (I219N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 773707	NM_005139.3(ANXA3):c.56G>A (p.Ser19Asn)	ANXA3 (S19N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 724728	NM_005139.3(ANXA3):c.938T>C (p.Ile313Thr)	ANXA3 (I313T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 686225	GRCh37/hg19 4q21.1-21.23(chr4:78769297-84968832)x1	ABRAXAS1, ANTXR2 +29 more	Copy number loss	not provided	GPathogenic
Select item 685236	GRCh37/hg19 4q13.2-21.22(chr4:68242784-82991431)x3	CCNG2, CCNI +109 more	Copy number gain	not provided	GPathogenic
Select item 562935	GRCh37/hg19 4q21.21(chr4:79256988-81081299)x1	BMP2K, ANXA3 +6 more	Copy number loss	not provided	GUncertain significance
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	SCRG1, SDAD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	CCKAR, CWH43 +744 more	Copy number gain	See cases	GPathogenic
Select item 155391	GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	LOC129992716, LOC129992717 +533 more	Copy number gain	See cases	GPathogenic
Select item 152987	GRCh38/hg38 4q21.1-21.21(chr4:75801143-79005805)x3	ANXA3, ART3 +107 more	Copy number gain	See cases	GPathogenic
Select item 149262	GRCh38/hg38 4q13.3-21.3(chr4:72262258-86002147)x3	ABRAXAS1, ADAMTS3 +331 more	Copy number gain	See cases	GPathogenic
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 57143	GRCh38/hg38 4q21.1-21.23(chr4:75453111-84094295)x1	LOC129992733, LOC129992734 +236 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 42