ClinVar for Gene (Select 124626) - ClinVar

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Links from Gene

Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3259998	NM_199321.3(ZPBP2):c.399G>C (p.Met133Ile)	ZPBP2 (M133I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259997	NM_199321.3(ZPBP2):c.761A>G (p.His254Arg)	ZPBP2 (H232R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259996	NM_199321.3(ZPBP2):c.413G>A (p.Arg138Gln)	ZPBP2 (R138Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3199245	NM_199321.3(ZPBP2):c.665G>A (p.Gly222Glu)	ZPBP2 (G222E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199244	NM_199321.3(ZPBP2):c.553C>T (p.Pro185Ser)	ZPBP2 (P185S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199243	NM_199321.3(ZPBP2):c.464G>A (p.Cys155Tyr)	ZPBP2 (C133Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589485	NM_199321.3(ZPBP2):c.80A>G (p.Asn27Ser)	ZPBP2 (N27S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553244	NM_199321.3(ZPBP2):c.935G>T (p.Cys312Phe)	ZPBP2 (C290F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523943	NM_199321.3(ZPBP2):c.497T>G (p.Val166Gly)	ZPBP2 (V144G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511823	NM_199321.3(ZPBP2):c.821G>A (p.Arg274His)	ZPBP2 (R252H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424720	NC_000017.10:g.(?_37821613)_(38458253_?)dup	CASC3, CDC6 +20 more	Duplication	Hypertrophic cardiomyopathy 25 +1 more	GUncertain significance
Select item 2378561	NM_199321.3(ZPBP2):c.342G>C (p.Lys114Asn)	ZPBP2 (K114N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360257	NM_199321.3(ZPBP2):c.1012G>A (p.Asp338Asn)	ZPBP2 (D316N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346032	NM_199321.3(ZPBP2):c.615A>G (p.Ile205Met)	ZPBP2 (I205M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326956	NM_199321.3(ZPBP2):c.1011A>C (p.Glu337Asp)	ZPBP2 (E315D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311255	NM_199321.3(ZPBP2):c.313G>A (p.Gly105Arg)	ZPBP2 (G105R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307048	NM_199321.3(ZPBP2):c.812A>G (p.Gln271Arg)	ZPBP2 (Q271R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280457	NM_199321.3(ZPBP2):c.733T>G (p.Phe245Val)	ZPBP2 (F223V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267992	NM_199321.3(ZPBP2):c.893T>C (p.Val298Ala)	ZPBP2 (V298A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781283	NM_199321.3(ZPBP2):c.519T>C (p.Ser173=)	ZPBP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 781282	NM_199321.3(ZPBP2):c.352G>A (p.Ala118Thr)	ZPBP2 (A96T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 719398	NM_199321.3(ZPBP2):c.850A>G (p.Lys284Glu)	ZPBP2 (K262E +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 564444	GRCh37/hg19 17q12(chr17:36972794-38033708)x4	STARD3, CDK12 +22 more	Copy number gain	not provided	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 154398	GRCh38/hg38 17q21.1(chr17:39876786-40048205)x1	CSF3, GSDMA +15 more	Copy number loss	See cases	GUncertain significance
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 31