ClinVar for Gene (Select 5691) - ClinVar - NCBI

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Links from Gene

Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3220378	NM_002795.4(PSMB3):c.7A>G (p.Ile3Val)	PSMB3 (I3V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220377	NM_002795.4(PSMB3):c.557T>C (p.Ile186Thr)	PSMB3 (I186T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220376	NM_002795.4(PSMB3):c.217C>G (p.Leu73Val)	PSMB3 (L73V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220373	NM_002795.4(PSMB3):c.202A>G (p.Lys68Glu)	PSMB3 (K68E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2684848	GRCh37/hg19 17q12(chr17:36836115-37099066)x3	CISD3, CWC25 +8 more	Copy number gain	not provided	GUncertain significance
Select item 2647707	NM_002795.4(PSMB3):c.480G>A (p.Pro160=)	PSMB3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2609110	NM_002795.4(PSMB3):c.41T>C (p.Met14Thr)	PSMB3 (M14T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484501	NM_002795.4(PSMB3):c.598C>A (p.Leu200Met)	PSMB3 (L200M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2425689	NC_000017.10:g.(?_36891476)_(37009963_?)dup	CISD3, CWC25 +5 more	Duplication	not provided	GLikely benign
Select item 2375205	NM_002795.4(PSMB3):c.204G>C (p.Lys68Asn)	PSMB3 (K68N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 815933	GRCh37/hg19 17q12(chr17:36710984-37295662)x3	C17orf98, CISD3 +11 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 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 394925	GRCh37/hg19 17q12(chr17:36891708-36909570)x3	CISD3, PCGF2 +1 more	Copy number gain	See cases	GUncertain significance
Select item 394258	GRCh37/hg19 17q12(chr17:36891708-36912092)x3	CISD3, PCGF2 +1 more	Copy number gain	See cases	GLikely benign
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