ClinVar for Gene (Select 23604) - ClinVar

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Links from Gene

Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3270875	NM_014326.5(DAPK2):c.817C>T (p.Arg273Trp)	DAPK2 (R64W +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3270874	NM_014326.5(DAPK2):c.16A>G (p.Met6Val)	DAPK2 (M6V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3270873	NM_014326.5(DAPK2):c.628A>G (p.Met210Val)	DAPK2, LOC101928988 (M1V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3080088	NM_014326.5(DAPK2):c.992C>T (p.Ser331Leu)	DAPK2 (R316C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080087	NM_014326.5(DAPK2):c.973T>C (p.Cys325Arg)	DAPK2 (C170R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3080086	NM_014326.5(DAPK2):c.968C>A (p.Ser323Tyr)	DAPK2 (P153T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080085	NM_014326.5(DAPK2):c.818G>A (p.Arg273Gln)	DAPK2 (R118Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3080084	NM_014326.5(DAPK2):c.811C>T (p.Arg271Trp)	DAPK2 (R271C +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3080082	NM_014326.5(DAPK2):c.377C>T (p.Ala126Val)	DAPK2, LOC125078101 (A126V)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3080081	NM_014326.5(DAPK2):c.287G>A (p.Arg96His)	DAPK2 (R96H)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3080080	NM_014326.5(DAPK2):c.134C>T (p.Thr45Met)	DAPK2 (T45M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3080079	NM_014326.5(DAPK2):c.109G>A (p.Val37Met)	DAPK2 (V37M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3080078	NM_014326.5(DAPK2):c.1042G>A (p.Glu348Lys)	DAPK2 (E348K +1 more)	Single nucleotide variant (synonymous variant +3 more)	not specified	GUncertain significance
Select item 3080077	NM_014326.5(DAPK2):c.101T>C (p.Phe34Ser)	DAPK2 (F34S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2598830	NM_014326.5(DAPK2):c.121C>T (p.Arg41Trp)	DAPK2 (R41W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2561010	NM_014326.5(DAPK2):c.934C>T (p.Arg312Cys)	DAPK2 (R157C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2491429	NM_014326.5(DAPK2):c.451A>C (p.Lys151Gln)	DAPK2, LOC125078101 (K151Q)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2480807	NM_014326.5(DAPK2):c.768G>C (p.Glu256Asp)	DAPK2 (E101D +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2467950	NM_014326.5(DAPK2):c.169C>T (p.Arg57Trp)	DAPK2 (R57W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2462633	NM_014326.5(DAPK2):c.940C>T (p.Arg314Trp)	DAPK2 (R159W +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2462210	NM_014326.5(DAPK2):c.405T>G (p.Asp135Glu)	DAPK2, LOC125078101 (D135E)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2424797	NC_000015.9:g.(?_62146656)_(64747263_?)del	APH1B, C2CD4A +19 more	Deletion	not provided	GPathogenic
Select item 2407626	NM_014326.5(DAPK2):c.283A>G (p.Asn95Asp)	DAPK2 (N95D)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2401553	NM_014326.5(DAPK2):c.667G>A (p.Gly223Arg)	DAPK2 (G14R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2386030	NM_014326.5(DAPK2):c.337G>A (p.Asp113Asn)	DAPK2, LOC125078101 (D113N)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2355601	NM_014326.5(DAPK2):c.1006G>A (p.Val336Met)	DAPK2 (V127M +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2355239	NM_014326.5(DAPK2):c.424A>C (p.Thr142Pro)	DAPK2, LOC125078101 (T142P)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2323248	NM_014326.5(DAPK2):c.931G>A (p.Val311Ile)	DAPK2 (V102I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288363	NM_014326.5(DAPK2):c.779A>T (p.Asp260Val)	DAPK2 (D105V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2271241	NM_014326.5(DAPK2):c.188G>A (p.Arg63Gln)	DAPK2 (R63Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2267050	NM_014326.5(DAPK2):c.1055A>T (p.Glu352Val)	DAPK2 (E197V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2251977	NM_014326.5(DAPK2):c.992C>G (p.Ser331Trp)	DAPK2 (S122W +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216898	NM_014326.5(DAPK2):c.122G>A (p.Arg41Gln)	DAPK2 (R41Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2208608	NM_014326.5(DAPK2):c.847C>T (p.Pro283Ser)	DAPK2 (P128S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 788128	NM_014326.5(DAPK2):c.861G>A (p.Pro287=)	DAPK2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 787680	NM_014326.5(DAPK2):c.632+8G>T	DAPK2, LOC101928988	Single nucleotide variant	not provided	GBenign/Likely benign
Select item 783714	NM_014326.5(DAPK2):c.810C>T (p.Thr270=)	DAPK2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 781721	NM_014326.5(DAPK2):c.179G>A (p.Arg60Gln)	DAPK2 (R60Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 778099	NM_014326.5(DAPK2):c.203G>A (p.Arg68Gln)	DAPK2 (R68Q)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 747537	NM_014326.5(DAPK2):c.180G>A (p.Arg60=)	DAPK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 741212	NM_014326.5(DAPK2):c.1098G>A (p.Arg366=)	DAPK2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 560063	Single allele	ANKDD1A, APH1B +40 more	Deletion	Nemaline myopathy 6	GLikely pathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	WHAMM, CCNB2 +308 more	Copy number gain	not provided	GLikely pathogenic
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 50