26040[HGNC] - ClinVar

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Items: 40

	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 714657	NM_001316943.2(PARP16):c.960G>A (p.Ala320=)	PARP16	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3208744	NM_001316943.2(PARP16):c.917G>A (p.Ser306Asn)	PARP16 (S306N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554864	NM_001316943.2(PARP16):c.743G>A (p.Gly248Glu)	PARP16 (G133E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346610	NM_001316943.2(PARP16):c.670A>C (p.Lys224Gln)	PARP16 (K224Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2514424	NM_001316943.2(PARP16):c.662C>T (p.Pro221Leu)	PARP16 (P106L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390383	NM_001316943.2(PARP16):c.652A>G (p.Ile218Val)	PARP16 (I103V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304390	NM_001316943.2(PARP16):c.646G>A (p.Glu216Lys)	PARP16 (E216K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470457	NM_001316943.2(PARP16):c.640G>A (p.Val214Met)	PARP16 (V214M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212732	NM_001316943.2(PARP16):c.616G>A (p.Gly206Ser)	PARP16 (G91S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328424	NM_001316943.2(PARP16):c.592C>T (p.His198Tyr)	PARP16 (H198Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344797	NM_001316943.2(PARP16):c.571C>G (p.Leu191Val)	PARP16 (L76V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332010	NM_001316943.2(PARP16):c.541A>G (p.Thr181Ala)	PARP16 (T181A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318254	NM_001316943.2(PARP16):c.524C>T (p.Ser175Phe)	PARP16 (S60F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263391	NM_001316943.2(PARP16):c.504C>G (p.His168Gln)	PARP16 (H168Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2248768	NM_001316943.2(PARP16):c.494A>G (p.Asn165Ser)	PARP16 (N165S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372604	NM_001316943.2(PARP16):c.413T>C (p.Phe138Ser)	PARP16 (F138S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536373	NM_001316943.2(PARP16):c.290T>C (p.Ile97Thr)	PARP16 (I97T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597784	NM_001316943.2(PARP16):c.208G>C (p.Glu70Gln)	PARP16 (E70Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304391	NM_001316943.2(PARP16):c.179C>A (p.Ala60Glu)	PARP16 (A60E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244900	NM_001316943.2(PARP16):c.145C>T (p.Arg49Cys)	PARP16 (R49C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241448	NM_001316943.2(PARP16):c.143C>T (p.Ala48Val)	PARP16 (A48V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382672	NM_001316943.2(PARP16):c.130C>T (p.Pro44Ser)	PARP16 (P44S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304389	NM_001316943.2(PARP16):c.89C>T (p.Ala30Val)	PARP16 (A30V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528280	NM_001316943.2(PARP16):c.37G>A (p.Ala13Thr)	PARP16 (A13T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533728	NM_001316943.2(PARP16):c.14G>A (p.Gly5Asp)	PARP16 (G5D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809248	GRCh37/hg19 15q22.31(chr15:65437410-65659163)x3	CILP, CLPX +3 more	Copy number gain	not provided	GUncertain significance
Select item 1526465	GRCh37/hg19 15q22.31(chr15:64978681-65679053)	ANKDD1A, CILP +16 more	Copy number gain	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

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Items: 40