19098[HGNC] - ClinVar

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Items: 33

	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 151181	GRCh38/hg38 15q22.31(chr15:64671902-65034346)x1	ANKDD1A, LOC125078103 +34 more	Copy number loss	See cases	GUncertain significance
Select item 2361324	NM_194272.3(RBPMS2):c.616C>A (p.Arg206Ser)	RBPMS2 (R206S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152628	NM_194272.3(RBPMS2):c.596C>T (p.Thr199Ile)	RBPMS2 (T199I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152627	NM_194272.3(RBPMS2):c.562G>A (p.Ala188Thr)	RBPMS2 (A188T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2228038	NM_194272.3(RBPMS2):c.544G>A (p.Ala182Thr)	RBPMS2 (A182T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2592489	NM_194272.3(RBPMS2):c.503C>T (p.Ala168Val)	RBPMS2 (A168V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313384	NM_194272.3(RBPMS2):c.484A>G (p.Thr162Ala)	RBPMS2 (T162A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620388	NM_194272.3(RBPMS2):c.469C>A (p.Pro157Thr)	RBPMS2 (P157T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539677	NM_194272.3(RBPMS2):c.439C>G (p.Leu147Val)	RBPMS2 (L147V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152625	NM_194272.3(RBPMS2):c.433G>T (p.Ala145Ser)	RBPMS2 (A145S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152624	NM_194272.3(RBPMS2):c.406G>A (p.Ala136Thr)	RBPMS2 (A136T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152623	NM_194272.3(RBPMS2):c.404T>C (p.Ile135Thr)	RBPMS2 (I135T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305277	NM_194272.3(RBPMS2):c.376G>A (p.Val126Met)	RBPMS2 (V126M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152622	NM_194272.3(RBPMS2):c.359C>T (p.Thr120Ile)	RBPMS2 (T120I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152621	NM_194272.3(RBPMS2):c.349C>A (p.Leu117Ile)	RBPMS2 (L117I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152620	NM_194272.3(RBPMS2):c.275G>A (p.Arg92His)	RBPMS2 (R92H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343395	NM_194272.3(RBPMS2):c.154C>T (p.Arg52Trp)	RBPMS2 (R52W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588175	NM_194272.3(RBPMS2):c.91C>T (p.Arg31Trp)	RBPMS2 (R31W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313385	NM_194272.3(RBPMS2):c.8A>G (p.Asn3Ser)	RBPMS2 (N3S)	Single nucleotide variant (missense variant +1 more)	not specified	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 980529	GRCh37/hg19 15q22.31(chr15:64705736-65178188)x3	TRIP4, OAZ2 +4 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 253982	GRCh37/hg19 15q22.31(chr15:64673133-65273595)x3	RBPMS2, ZNF609 +7 more	Copy number gain	See cases	GUncertain significance
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: 33