16490[HGNC] - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 3085578	NM_130434.5(DPP8):c.-12+1828C>T	DPP8 (S12L)	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 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

ClinVar

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Items: 55