34383[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	ABHD1, ACP1 +1047 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	ABCG5, ABCG8 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	ABCG5, ABCG8 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC126806252, LOC126806253 +2457 more	Copy number gain	See cases	GBenign
Select item 155287	GRCh38/hg38 2p23.2(chr2:28557445-29437643)x3	ALK, CLIP4 +37 more	Copy number gain	See cases	GUncertain significance
Select item 154217	GRCh38/hg38 2p23.2(chr2:28561270-29446956)x3	ALK, CLIP4 +37 more	Copy number gain	See cases	GUncertain significance
Select item 149082	GRCh38/hg38 2p23.2(chr2:28574111-29442195)x3	ALK, CLIP4 +35 more	Copy number gain	See cases	GUncertain significance
Select item 895712	NM_001029883.3(PCARE):c.*3063A>G	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 335569	NM_001029883.3(PCARE):c.*3057C>T	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GBenign
Select item 335570	NM_001029883.3(PCARE):c.*3050C>T	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 895713	NM_001029883.3(PCARE):c.*3041A>G	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GLikely benign
Select item 335571	NM_001029883.3(PCARE):c.*3040C>T	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 335572	NM_001029883.3(PCARE):c.*3037G>A	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 895997	NM_001029883.3(PCARE):c.*3036C>T	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 895998	NM_001029883.3(PCARE):c.*3008G>T	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 335573	NM_001029883.3(PCARE):c.*2929T>C	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GBenign
Select item 335574	NM_001029883.3(PCARE):c.*2763A>G	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 335575	NM_001029883.3(PCARE):c.*2754A>G	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GBenign
Select item 335576	NM_001029883.3(PCARE):c.*2670T>C	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GBenign
Select item 897593	NM_001029883.3(PCARE):c.*2652T>C	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 897594	NM_001029883.3(PCARE):c.*2649C>T	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 897595	NM_001029883.3(PCARE):c.*2629G>A	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GBenign
Select item 335577	NM_001029883.3(PCARE):c.*2595A>G	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 335578	NM_001029883.3(PCARE):c.*2585A>G	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GBenign
Select item 335579	NM_001029883.3(PCARE):c.*2584C>T	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GLikely benign
Select item 335580	NM_001029883.3(PCARE):c.*2579C>A	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis Pigmentosa, Recessive	GUncertain significance
Select item 335581	NM_001029883.3(PCARE):c.*2562G>C	PCARE	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 335582	NM_001029883.3(PCARE):c.*2558C>T	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 898751	NM_001029883.3(PCARE):c.*2546G>A	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 335583	NM_001029883.3(PCARE):c.*2525G>A	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GBenign
Select item 898752	NM_001029883.3(PCARE):c.*2512G>A	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 335584	NM_001029883.3(PCARE):c.*2481G>A	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GBenign
Select item 335585	NM_001029883.3(PCARE):c.*2442G>A	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 895783	NM_001029883.3(PCARE):c.*2441C>A	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 895784	NM_001029883.3(PCARE):c.*2383G>A	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 335586	NM_001029883.3(PCARE):c.*2300C>T	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GLikely benign
Select item 335587	NM_001029883.3(PCARE):c.*2293G>C	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GLikely benign
Select item 335588	NM_001029883.3(PCARE):c.*2279G>A	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GBenign
Select item 335589	NM_001029883.3(PCARE):c.*2209G>A	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GLikely benign
Select item 896066	NM_001029883.3(PCARE):c.*2207C>T	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 335590	NM_001029883.3(PCARE):c.*2160G>A	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GBenign
Select item 335591	NM_001029883.3(PCARE):c.*2104T>C	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GBenign
Select item 896067	NM_001029883.3(PCARE):c.*2066A>G	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 335592	NM_001029883.3(PCARE):c.*2022G>A	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GBenign
Select item 897656	NM_001029883.3(PCARE):c.*1969G>A	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 897657	NM_001029883.3(PCARE):c.*1933G>C	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 897658	NM_001029883.3(PCARE):c.*1930C>T	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 335593	NM_001029883.3(PCARE):c.*1912T>A	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GBenign
Select item 335594	NM_001029883.3(PCARE):c.*1865G>A	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 335595	NM_001029883.3(PCARE):c.*1844C>G	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 335596	NM_001029883.3(PCARE):c.*1798C>T	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 897659	NM_001029883.3(PCARE):c.*1785C>T	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 898820	NM_001029883.3(PCARE):c.*1748C>T	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GLikely benign
Select item 335597	NM_001029883.3(PCARE):c.*1746G>A	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 898821	NM_001029883.3(PCARE):c.*1742G>C	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GLikely benign
Select item 898822	NM_001029883.3(PCARE):c.*1714G>A	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 335598	NM_001029883.3(PCARE):c.*1704A>G	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GLikely benign
Select item 898823	NM_001029883.3(PCARE):c.*1703A>G	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 898824	NM_001029883.3(PCARE):c.*1686C>A	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 898825	NM_001029883.3(PCARE):c.*1666C>T	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 335599	NM_001029883.3(PCARE):c.*1663C>T	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GBenign
Select item 335600	NM_001029883.3(PCARE):c.*1601G>A	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GLikely benign
Select item 335601	NM_001029883.3(PCARE):c.*1542A>G	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GBenign
Select item 335602	NM_001029883.3(PCARE):c.*1525C>T	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 335603	NM_001029883.3(PCARE):c.*1517G>A	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 335604	NM_001029883.3(PCARE):c.*1425C>T	PCARE	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 335605	NM_001029883.3(PCARE):c.*1371G>A	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GBenign
Select item 335606	NM_001029883.3(PCARE):c.*1296T>G	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 335607	NM_001029883.3(PCARE):c.*1278C>A	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 335608	NM_001029883.3(PCARE):c.*1259C>T	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 335609	NM_001029883.3(PCARE):c.*1226A>G	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GBenign
Select item 335610	NM_001029883.3(PCARE):c.*1224C>G	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 335611	NM_001029883.3(PCARE):c.*1199G>C	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 335612	NM_001029883.3(PCARE):c.*1157G>A	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 897733	NM_001029883.3(PCARE):c.*1145G>A	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GLikely benign
Select item 897734	NM_001029883.3(PCARE):c.*1140T>C	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 335613	NM_001029883.3(PCARE):c.*1065A>G	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GBenign
Select item 335614	NM_001029883.3(PCARE):c.*1050C>T	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 897735	NM_001029883.3(PCARE):c.*997G>A	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 335615	NM_001029883.3(PCARE):c.*988C>G	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 335616	NM_001029883.3(PCARE):c.*983G>A	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GLikely benign
Select item 335617	NM_001029883.3(PCARE):c.*982C>T	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 898885	NM_001029883.3(PCARE):c.*953G>A	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 898886	NM_001029883.3(PCARE):c.*929G>A	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 335618	NM_001029883.3(PCARE):c.*903A>G	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 335619	NM_001029883.3(PCARE):c.*874G>A	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 335620	NM_001029883.3(PCARE):c.*857C>T	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 335621	NM_001029883.3(PCARE):c.*830C>A	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GBenign
Select item 898887	NM_001029883.3(PCARE):c.*778A>T	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GLikely benign
Select item 335622	NM_001029883.3(PCARE):c.*686A>T	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GLikely benign
Select item 335623	NM_001029883.3(PCARE):c.*658G>C	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 335624	NM_001029883.3(PCARE):c.*599G>A	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 335625	NM_001029883.3(PCARE):c.*543C>T	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GBenign
Select item 335627	NM_001029883.3(PCARE):c.506_508delinsCTG	PCARE	Indel (3 prime UTR variant)	Retinitis Pigmentosa, Recessive	GUncertain significance
Select item 335626	NM_001029883.3(PCARE):c.*508A>G	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GBenign
Select item 335628	NM_001029883.3(PCARE):c.*506T>C	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GBenign
Select item 895924	NM_001029883.3(PCARE):c.*474T>C	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 895925	NM_001029883.3(PCARE):c.*413G>A	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 895926	NM_001029883.3(PCARE):c.*412C>T	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 896202	NM_001029883.3(PCARE):c.*400G>A	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance

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