ClinVar for Gene (Select 126006) - ClinVar

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Links from Gene

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3305228	NM_174895.3(PCP2):c.109C>T (p.Arg37Trp)	PCP2, STXBP2 (R21W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305227	NM_174895.3(PCP2):c.182C>T (p.Pro61Leu)	PCP2, STXBP2 (P45L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305226	NM_174895.3(PCP2):c.205A>G (p.Met69Val)	PCP2, STXBP2 (M53V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305225	NM_174895.3(PCP2):c.49G>C (p.Glu17Gln)	PCP2, STXBP2 (E17Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3248484	NC_000019.9:g.(?_7694720)_(7712696_?)del	PCP2, PET100 +1 more	Deletion	Familial hemophagocytic lymphohistiocytosis 5	GPathogenic
Select item 3248423	NC_000019.9:g.(?_7504827)_(7712696_?)del	ARHGEF18, CAMSAP3 +9 more	Deletion	Mucolipidosis type IV	GPathogenic
Select item 3242628	NC_000019.9:g.(?_5691310)_(8008536_?)dup	ACER1, ACSBG2 +65 more	Duplication	not provided	GUncertain significance
Select item 3210423	NM_174895.3(PCP2):c.49G>A (p.Glu17Lys)	PCP2, STXBP2 (E17K)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3210422	NM_174895.3(PCP2):c.244C>T (p.Arg82Cys)	PCP2, STXBP2 (R66C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210421	NM_174895.3(PCP2):c.168G>C (p.Gln56His)	PCP2, STXBP2 (Q56H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618290	NM_174895.3(PCP2):c.171C>G (p.Ser57Arg)	PCP2, STXBP2 (S41R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614692	NM_174895.3(PCP2):c.41C>G (p.Pro14Arg)	PCP2, STXBP2 (P14R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599863	NM_174895.3(PCP2):c.358G>A (p.Ala120Thr)	PCP2, PET100 +1 more (A104T +1 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2590658	NM_174895.3(PCP2):c.46G>A (p.Ala16Thr)	PCP2, STXBP2 (A16T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2520892	NM_174895.3(PCP2):c.184G>A (p.Glu62Lys)	PCP2, STXBP2 (E46K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508692	NM_174895.3(PCP2):c.280G>A (p.Val94Met)	PCP2, STXBP2 (V94M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2426564	NC_000019.9:g.(?_6361586)_(8212364_?)del	CRB3, CTXN1 +51 more	Deletion	Mucolipidosis type IV	GPathogenic
Select item 2426563	NC_000019.9:g.(?_7586521)_(8670595_?)dup	ADAMTS10, ANGPTL4 +35 more	Duplication	Mucolipidosis type IV	GUncertain significance
Select item 2374396	NM_174895.3(PCP2):c.140C>A (p.Ala47Asp)	PCP2, STXBP2 (A31D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255714	NM_174895.3(PCP2):c.235G>A (p.Asp79Asn)	PCP2, STXBP2 (D63N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1447846	NC_000019.9:g.(?_7694720)_(7712696_?)dup	PCP2, PET100 +1 more	Duplication	Familial hemophagocytic lymphohistiocytosis 5	GUncertain significance
Select item 1283193	NC_000019.10:g.7636780C>A	PCP2, STXBP2	Single nucleotide variant	not provided	GBenign
Select item 1188512	NM_001171155.2(PET100):c.*236C>T	PCP2, PET100 +1 more (R103Q +1 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not provided	GLikely benign
Select item 1183758	NC_000019.10:g.7636862T>C	PCP2, STXBP2	Single nucleotide variant	not provided	GBenign
Select item 831037	NC_000019.9:g.(?_7587617)_(8373194_?)dup	PCP2, PET100 +24 more	Duplication	Familial hemophagocytic lymphohistiocytosis 5	GUncertain significance
Select item 816064	GRCh37/hg19 19p13.2(chr19:7657490-8569762)x3	ANGPTL4, CAMSAP3 +30 more	Copy number gain	not provided	GUncertain significance
Select item 770282	NM_174895.3(PCP2):c.56G>T (p.Gly19Val)	PCP2, STXBP2 (G19V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 564607	GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3	ACER1, ACSBG2 +165 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 403501	NC_000019.10:g.7633434C>T	STXBP2, PCP2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 221540	GRCh37/hg19 19p13.2(chr19:7682488-7698319)x3	CAMSAP3, PCP2 +2 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 151458	GRCh38/hg38 19p13.2(chr19:7595411-7633304)x3	CAMSAP3, LOC121627854 +8 more	Copy number gain	See cases	GUncertain significance
Select item 60234	GRCh38/hg38 19p13.2(chr19:7194917-7827432)x3	LOC130063389, LOC130063390 +75 more	Copy number gain	See cases	GUncertain significance
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 35