ClinVar for Gene (Select 10244) - ClinVar

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Links from Gene

Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3312224	NM_005833.4(RABEPK):c.472G>A (p.Gly158Arg)	RABEPK (G107R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312223	NM_005833.4(RABEPK):c.721G>A (p.Ala241Thr)	RABEPK (A190T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3312221	NM_005833.4(RABEPK):c.587A>C (p.His196Pro)	RABEPK (H145P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312220	NM_005833.4(RABEPK):c.92G>A (p.Arg31Gln)	RABEPK (R31Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312219	NM_005833.4(RABEPK):c.613C>T (p.Leu205Phe)	RABEPK (L154F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150883	NM_005833.4(RABEPK):c.977A>G (p.Glu326Gly)	RABEPK (E275G +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3150882	NM_005833.4(RABEPK):c.946T>C (p.Ser316Pro)	RABEPK (S316P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150880	NM_005833.4(RABEPK):c.738C>G (p.His246Gln)	RABEPK (H195Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150879	NM_005833.4(RABEPK):c.604G>A (p.Gly202Arg)	RABEPK (G151R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150878	NM_005833.4(RABEPK):c.575C>G (p.Pro192Arg)	RABEPK (P141R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150877	NM_005833.4(RABEPK):c.569C>T (p.Pro190Leu)	RABEPK (P190L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150875	NM_005833.4(RABEPK):c.523G>C (p.Ala175Pro)	RABEPK (A124P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150874	NM_005833.4(RABEPK):c.523G>A (p.Ala175Thr)	RABEPK (A124T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150872	NM_005833.4(RABEPK):c.305G>C (p.Trp102Ser)	RABEPK (W102S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150871	NM_005833.4(RABEPK):c.298C>T (p.Arg100Cys)	RABEPK (R100C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150870	NM_005833.4(RABEPK):c.202A>G (p.Met68Val)	RABEPK (M68V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150869	NM_005833.4(RABEPK):c.197A>G (p.His66Arg)	RABEPK (H66R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150868	NM_005833.4(RABEPK):c.118C>A (p.Pro40Thr)	RABEPK (P40T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 2548646	NM_005833.4(RABEPK):c.578G>A (p.Arg193Gln)	RABEPK (R193Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542803	NM_005833.4(RABEPK):c.7C>A (p.Gln3Lys)	RABEPK (Q3K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529757	NM_005833.4(RABEPK):c.860C>T (p.Thr287Ile)	RABEPK (T287I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494678	NM_005833.4(RABEPK):c.398G>T (p.Ser133Ile)	RABEPK (S133I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492762	NM_005833.4(RABEPK):c.406C>T (p.Pro136Ser)	RABEPK (P136S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488363	NM_005833.4(RABEPK):c.625G>A (p.Gly209Arg)	RABEPK (G158R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463814	NM_005833.4(RABEPK):c.1046T>A (p.Leu349His)	RABEPK (L349H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410331	NM_005833.4(RABEPK):c.415A>G (p.Arg139Gly)	RABEPK (R88G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408408	NM_005833.4(RABEPK):c.164G>T (p.Gly55Val)	RABEPK (G55V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382436	NM_005833.4(RABEPK):c.917C>T (p.Thr306Met)	RABEPK (T306M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2381851	NM_005833.4(RABEPK):c.493G>A (p.Val165Met)	RABEPK (V165M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325757	NM_005833.4(RABEPK):c.404C>A (p.Pro135Gln)	RABEPK (P135Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325302	NM_005833.4(RABEPK):c.868C>A (p.Pro290Thr)	RABEPK (P239T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314345	NM_005833.4(RABEPK):c.374C>A (p.Thr125Lys)	RABEPK (T125K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304712	NM_005833.4(RABEPK):c.140G>C (p.Arg47Thr)	RABEPK (R47T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271463	NM_005833.4(RABEPK):c.449A>G (p.Asn150Ser)	RABEPK (N150S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268766	NM_005833.4(RABEPK):c.697C>G (p.Leu233Val)	RABEPK (L233V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260867	NM_005833.4(RABEPK):c.613C>A (p.Leu205Ile)	RABEPK (L154I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246823	NM_005833.4(RABEPK):c.563A>G (p.Asn188Ser)	RABEPK (N188S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213054	NM_005833.4(RABEPK):c.643A>G (p.Arg215Gly)	RABEPK (R215G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207449	NM_005833.4(RABEPK):c.797C>T (p.Ala266Val)	RABEPK (A266V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808695	GRCh37/hg19 9q33.2-33.3(chr9:124018736-129995568)x1	ADGRD2, ANGPTL2 +59 more	Copy number loss	not provided	GPathogenic
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ADAMTSL1, CEP78 +596 more	Copy number gain	See cases	GPathogenic
Select item 1527545	GRCh37/hg19 9q32-34.11(chr9:116422275-131713233)	ADGRD2, AK1 +141 more	Copy number gain	not specified	GPathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	AMBP, ANAPC2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	MSMP, OR13D1 +769 more	Copy number gain	not provided	GPathogenic
Select item 623439	NM_005833.4(RABEPK):c.256C>T (p.Arg86Trp)	RABEPK (R86W)	Single nucleotide variant (missense variant +1 more)	High myopia	GUncertain significance
Select item 563608	GRCh37/hg19 9q33.3(chr9:127782540-128008126)x3	RABEPK, PPP6C +2 more	Copy number gain	not provided	GUncertain significance
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	ANGPTL2, ANKS6 +555 more	Copy number gain	Seizure +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ODF2, OGN +769 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 394948	GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3	ABCA2, ABL1 +279 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153090	GRCh38/hg38 9q33.2-33.3(chr9:123095598-126693843)x1	ADGRD2, ARPC5L +172 more	Copy number loss	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 148721	GRCh38/hg38 9q33.3-34.11(chr9:125055865-128637946)x1	AK1, ANGPTL2 +250 more	Copy number loss	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003132, LOC130003133 +1210 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 67