9287[HGNC] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 152111	GRCh38/hg38 17q12(chr17:39036037-39694679)x3	ARL5C, CACNB1 +50 more	Copy number gain	See cases	GLikely benign
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 98476	NM_032192.4(PPP1R1B):c.72G>A (p.Gln24=)	PPP1R1B	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 98477	NM_032192.4(PPP1R1B):c.86G>A (p.Arg29Gln)	PPP1R1B (R29Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	Gnot provided
Select item 2593868	NM_032192.4(PPP1R1B):c.310G>A (p.Glu104Lys)	PPP1R1B (E104K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358860	NM_032192.4(PPP1R1B):c.377A>G (p.Glu126Gly)	PPP1R1B (E90G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 98478	NM_032192.4(PPP1R1B):c.393G>A (p.Glu131=)	PPP1R1B	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 3309396	NM_032192.4(PPP1R1B):c.398A>C (p.Glu133Ala)	PPP1R1B (E133A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466146	NM_032192.4(PPP1R1B):c.443C>A (p.Ser148Tyr)	PPP1R1B (S112Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277562	NM_032192.4(PPP1R1B):c.466G>A (p.Gly156Ser)	PPP1R1B (G156S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781279	NM_032192.4(PPP1R1B):c.480A>G (p.Glu160=)	PPP1R1B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3309397	NM_032192.4(PPP1R1B):c.493C>T (p.Arg165Cys)	PPP1R1B (R129C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 98479	NM_032192.4(PPP1R1B):c.493C>A (p.Arg165Ser)	PPP1R1B (R165S +1 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 3217557	NM_032192.4(PPP1R1B):c.502C>G (p.Pro168Ala)	PPP1R1B (P168A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775160	NM_032192.4(PPP1R1B):c.593C>A (p.Ser198Tyr)	PPP1R1B (S162Y +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
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 688925	GRCh37/hg19 17q12(chr17:37190609-37868002)x3	ARL5C, CACNB1 +13 more	Copy number gain	not provided	GUncertain significance
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 443556	GRCh37/hg19 17q12(chr17:37313691-37868516)x3	ARL5C, CACNB1 +12 more	Copy number gain	See cases	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

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Items: 24