54883[Gene ID] - ClinVar

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Items: 44

	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 3270371	NM_017748.5(CWC25):c.1208G>A (p.Arg403Gln)	CWC25 (R403Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541197	NM_017748.5(CWC25):c.1166G>C (p.Arg389Pro)	CWC25 (R389P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270373	NM_017748.5(CWC25):c.1136T>C (p.Leu379Pro)	CWC25 (L379P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241068	NM_017748.5(CWC25):c.1115G>A (p.Arg372Gln)	CWC25 (R372Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334757	NM_017748.5(CWC25):c.1099G>T (p.Ala367Ser)	CWC25 (A367S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461030	NM_017748.5(CWC25):c.1033C>T (p.Arg345Trp)	CWC25 (R345W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401928	NM_017748.5(CWC25):c.1028G>A (p.Arg343Gln)	CWC25 (R343Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550270	NM_017748.5(CWC25):c.1002A>G (p.Arg334=)	CWC25	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3079105	NM_017748.5(CWC25):c.997A>T (p.Thr333Ser)	CWC25 (T333S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378164	NM_017748.5(CWC25):c.991G>A (p.Gly331Arg)	CWC25 (G331R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267154	NM_017748.5(CWC25):c.899A>C (p.Lys300Thr)	CWC25 (K300T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408851	NM_017748.5(CWC25):c.800C>T (p.Pro267Leu)	CWC25 (P267L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237113	NM_017748.5(CWC25):c.733A>G (p.Thr245Ala)	CWC25 (T245A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270369	NM_017748.5(CWC25):c.718C>T (p.Leu240Phe)	CWC25 (L240F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2568497	NM_017748.5(CWC25):c.707G>A (p.Arg236His)	CWC25 (R236H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3270370	NM_017748.5(CWC25):c.695G>A (p.Arg232Gln)	CWC25 (R232Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079104	NM_017748.5(CWC25):c.691G>T (p.Val231Phe)	CWC25 (V231F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325433	NM_017748.5(CWC25):c.682G>A (p.Gly228Ser)	CWC25 (G228S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079103	NM_017748.5(CWC25):c.604G>A (p.Glu202Lys)	CWC25 (E202K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2609014	NM_017748.5(CWC25):c.603C>G (p.Ser201Arg)	CWC25 (S201R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270368	NM_017748.5(CWC25):c.514G>A (p.Glu172Lys)	CWC25 (E172K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462868	NM_017748.5(CWC25):c.503A>T (p.Gln168Leu)	CWC25 (Q168L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2228270	NM_017748.5(CWC25):c.452G>A (p.Arg151Gln)	CWC25 (R151Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306109	NM_017748.5(CWC25):c.404G>A (p.Arg135Gln)	CWC25 (R135Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388493	NM_017748.5(CWC25):c.403C>T (p.Arg135Trp)	CWC25 (R135W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530765	NM_017748.5(CWC25):c.401T>C (p.Ile134Thr)	CWC25 (I134T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079102	NM_017748.5(CWC25):c.383T>C (p.Leu128Pro)	CWC25 (L128P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207472	NM_017748.5(CWC25):c.374A>G (p.Asn125Ser)	CWC25 (N125S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408108	NM_017748.5(CWC25):c.371C>G (p.Ala124Gly)	CWC25 (A124G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511869	NM_017748.5(CWC25):c.248G>A (p.Arg83His)	CWC25 (R83H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079101	NM_017748.5(CWC25):c.221A>T (p.Tyr74Phe)	CWC25 (Y74F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270372	NM_017748.5(CWC25):c.203A>G (p.Glu68Gly)	CWC25 (E68G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411624	NM_017748.5(CWC25):c.187G>A (p.Val63Ile)	CWC25 (V63I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616770	NM_017748.5(CWC25):c.143G>A (p.Arg48Lys)	CWC25 (R48K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	AARSD1, AATF +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 2684848	GRCh37/hg19 17q12(chr17:36836115-37099066)x3	CISD3, CWC25 +8 more	Copy number gain	not provided	GUncertain significance
Select item 2425689	NC_000017.10:g.(?_36891476)_(37009963_?)dup	CISD3, CWC25 +5 more	Duplication	not provided	GLikely benign
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 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

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Items: 44