ClinVar for Gene (Select 80279) - ClinVar

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Links from Gene

Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3265501	NM_176096.3(CDK5RAP3):c.1316A>G (p.Gln439Arg)	CDK5RAP3 (Q214R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265500	NM_176096.3(CDK5RAP3):c.1159C>G (p.Pro387Ala)	CDK5RAP3 (P300A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265499	NM_176096.3(CDK5RAP3):c.703A>G (p.Asn235Asp)	CDK5RAP3 (N260D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265498	NM_176096.3(CDK5RAP3):c.1374G>T (p.Gln458His)	CDK5RAP3 (Q233H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242218	Single allele	ABCC3, ABI3 +196 more	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
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 3141599	NM_176096.3(CDK5RAP3):c.875T>G (p.Ile292Ser)	CDK5RAP3 (I292S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141598	NM_176096.3(CDK5RAP3):c.755G>C (p.Arg252Pro)	CDK5RAP3 (R277P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141597	NM_176096.3(CDK5RAP3):c.742T>C (p.Ser248Pro)	CDK5RAP3 (S23P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141596	NM_176096.3(CDK5RAP3):c.718G>A (p.Glu240Lys)	CDK5RAP3 (E15K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141595	NM_176096.3(CDK5RAP3):c.688G>A (p.Val230Met)	CDK5RAP3 (V230M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141594	NM_176096.3(CDK5RAP3):c.245C>T (p.Thr82Met)	CDK5RAP3 (T82M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141593	NM_176096.3(CDK5RAP3):c.227A>G (p.Lys76Arg)	CDK5RAP3 (K101R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141592	NM_176096.3(CDK5RAP3):c.1475A>G (p.Lys492Arg)	CDK5RAP3 (K492R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141591	NM_176096.3(CDK5RAP3):c.1048C>T (p.Arg350Trp)	CDK5RAP3 (R350W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647881	NM_176096.3(CDK5RAP3):c.828A>C (p.Ala276=)	CDK5RAP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2607279	NM_176096.3(CDK5RAP3):c.920G>A (p.Gly307Asp)	CDK5RAP3 (G220D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594686	NM_176096.3(CDK5RAP3):c.1507G>A (p.Gly503Arg)	CDK5RAP3 (G416R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552790	NM_176096.3(CDK5RAP3):c.272C>T (p.Ser91Leu)	CDK5RAP3 (S116L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540799	NM_176096.3(CDK5RAP3):c.142A>G (p.Met48Val)	CDK5RAP3 (M73V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530241	NM_176096.3(CDK5RAP3):c.1226T>C (p.Ile409Thr)	CDK5RAP3 (I322T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528607	NM_176096.3(CDK5RAP3):c.865G>C (p.Ala289Pro)	CDK5RAP3 (A314P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522915	NM_176096.3(CDK5RAP3):c.1486G>T (p.Gly496Trp)	CDK5RAP3 (G521W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522792	NM_176096.3(CDK5RAP3):c.797C>T (p.Ala266Val)	CDK5RAP3 (A41V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506553	GRCh37/hg19 17q21.32(chr17:44949883-46507482)	CBX1, CDC27 +24 more	Copy number gain	PNPO-related disorder	GLikely pathogenic
Select item 2462810	NM_176096.3(CDK5RAP3):c.970C>G (p.Leu324Val)	CDK5RAP3 (L99V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461832	NM_176096.3(CDK5RAP3):c.830T>C (p.Val277Ala)	CDK5RAP3 (V190A +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2455952	NM_176096.3(CDK5RAP3):c.851G>T (p.Gly284Val)	CDK5RAP3 (G309V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410247	NM_176096.3(CDK5RAP3):c.1049G>A (p.Arg350Gln)	CDK5RAP3 (R125Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391536	NM_176096.3(CDK5RAP3):c.562A>C (p.Ser188Arg)	CDK5RAP3 (S188R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390283	NM_176096.3(CDK5RAP3):c.1192A>T (p.Met398Leu)	CDK5RAP3 (M398L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387720	NM_176096.3(CDK5RAP3):c.379C>T (p.Pro127Ser)	CDK5RAP3 (P152S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387615	NM_176096.3(CDK5RAP3):c.872G>T (p.Gly291Val)	CDK5RAP3 (G316V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368858	NM_176096.3(CDK5RAP3):c.871G>A (p.Gly291Arg)	CDK5RAP3 (G204R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343942	NM_176096.3(CDK5RAP3):c.560C>T (p.Pro187Leu)	CDK5RAP3 (P100L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267754	NM_176096.3(CDK5RAP3):c.766G>C (p.Glu256Gln)	CDK5RAP3 (E31Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225024	NM_176096.3(CDK5RAP3):c.521A>G (p.Asn174Ser)	CDK5RAP3 (N174S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 564451	GRCh37/hg19 17q21.32(chr17:45884442-46124946)x3	PRR15L, SP6 +9 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 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
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 145638	GRCh38/hg38 17q21.32(chr17:47686487-47986961)x1	CDK5RAP3, LOC109286563 +26 more	Copy number loss	See cases	GUncertain significance
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: 44