ClinVar for Gene (Select 54878) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3273653	NM_130434.5(DPP8):c.607A>G (p.Lys203Glu)	DPP8 (K203E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3273652	NM_130434.5(DPP8):c.1487T>A (p.Ile496Lys)	DPP8 (I512K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3273651	NM_130434.5(DPP8):c.1047T>G (p.Ile349Met)	DPP8 (I365M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3273650	NM_130434.5(DPP8):c.262A>G (p.Met88Val)	DPP8 (M104V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3273649	NM_130434.5(DPP8):c.976A>G (p.Thr326Ala)	DPP8 (T326A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3273648	NM_130434.5(DPP8):c.1200A>C (p.Glu400Asp)	DPP8 (E400D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3273647	NM_130434.5(DPP8):c.1472C>G (p.Pro491Arg)	DPP8 (P491R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085579	NM_130434.5(DPP8):c.728T>C (p.Met243Thr)	DPP8 (M243T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085578	NM_130434.5(DPP8):c.-12+1828C>T	DPP8 (S12L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3085577	NM_130434.5(DPP8):c.2275G>A (p.Ala759Thr)	DPP8 (A659T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085576	NM_130434.5(DPP8):c.2101G>A (p.Ala701Thr)	DPP8 (A717T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3085575	NM_130434.5(DPP8):c.-12+1811G>T	DPP8 (E6D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3085574	NM_130434.5(DPP8):c.1738T>A (p.Cys580Ser)	DPP8 (C580S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085573	NM_130434.5(DPP8):c.1624G>A (p.Val542Ile)	DPP8 (V542I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085571	NM_130434.5(DPP8):c.1541A>G (p.Gln514Arg)	DPP8 (Q530R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085570	NM_130434.5(DPP8):c.1489G>A (p.Ala497Thr)	DPP8 (A497T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085569	NM_130434.5(DPP8):c.1433C>T (p.Ser478Phe)	DPP8 (S494F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085568	NM_130434.5(DPP8):c.1131C>G (p.Ile377Met)	DPP8 (I377M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085567	NM_130434.5(DPP8):c.67A>G (p.Asn23Asp)	DPP8 (N23D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085566	NM_130434.5(DPP8):c.1058A>G (p.Glu353Gly)	DPP8 (E353G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085565	NM_130434.5(DPP8):c.1027G>A (p.Val343Ile)	DPP8 (V343I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085563	NM_130434.5(DPP8):c.994A>C (p.Ile332Leu)	DPP8 (I332L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601648	NM_130434.5(DPP8):c.680C>G (p.Thr227Ser)	DPP8 (T227S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2599632	NM_130434.5(DPP8):c.343T>C (p.Ser115Pro)	DPP8 (S115P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597649	NM_130434.5(DPP8):c.674T>C (p.Ile225Thr)	DPP8 (I241T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596397	NM_130434.5(DPP8):c.1543G>A (p.Val515Ile)	DPP8 (V515I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517899	NM_130434.5(DPP8):c.1234T>C (p.Ser412Pro)	DPP8 (S412P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495798	NM_130434.5(DPP8):c.1628A>G (p.Asn543Ser)	DPP8 (N543S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490291	NM_130434.5(DPP8):c.576A>C (p.Glu192Asp)	DPP8 (E208D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389885	NM_130434.5(DPP8):c.1657C>T (p.Arg553Cys)	DPP8 (R553C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386902	NM_130434.5(DPP8):c.545C>T (p.Thr182Met)	DPP8 (T182M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2380402	NM_130434.5(DPP8):c.1900C>T (p.Leu634Phe)	DPP8 (L650F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347254	NM_130434.5(DPP8):c.1657C>G (p.Arg553Gly)	DPP8 (R569G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342979	NM_130434.5(DPP8):c.1556G>A (p.Arg519Lys)	DPP8 (R535K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332606	NM_130434.5(DPP8):c.598A>G (p.Met200Val)	DPP8 (M216V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325962	NM_130434.5(DPP8):c.851G>A (p.Arg284Lys)	DPP8 (R300K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275005	NM_130434.5(DPP8):c.251A>G (p.Tyr84Cys)	DPP8 (Y84C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271800	NM_130434.5(DPP8):c.729G>A (p.Met243Ile)	DPP8 (M243I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264046	NM_130434.5(DPP8):c.116G>A (p.Arg39Gln)	DPP8 (R39Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251054	NM_130434.5(DPP8):c.1201G>T (p.Asp401Tyr)	DPP8 (D417Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236307	NM_130434.5(DPP8):c.328G>A (p.Ala110Thr)	DPP8 (A110T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204856	NM_130434.5(DPP8):c.692G>A (p.Arg231Lys)	DPP8 (R231K +1 more)	Single nucleotide variant (missense variant +1 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 685962	GRCh37/hg19 15q22.31(chr15:65258439-65742148)x3	RNU5A-1, SLC51B +12 more	Copy number gain	not provided	GUncertain significance
Select item 685961	GRCh37/hg19 15q22.31(chr15:65258583-65742148)x3	RASL12, RNU5A-1 +12 more	Copy number gain	not provided	GUncertain significance
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 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +278 more	Copy number gain	See cases	GPathogenic
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 58573	GRCh38/hg38 15q22.31(chr15:64448836-65975439)x3	ANKDD1A, CILP +97 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 55