3617[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154460	GRCh38/hg38 6q12-14.2(chr6:64549655-83426791)x1	ADGRB3, ADGRB3-DT +310 more	Copy number loss	See cases	GPathogenic
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 152284	GRCh38/hg38 6q14.1(chr6:75655832-76509933)x3	IMPG1, LOC129996735 +7 more	Copy number gain	See cases	GUncertain significance
Select item 154120	GRCh38/hg38 6q14.1(chr6:75787242-76453312)x3	IMPG1, LOC129996739 +2 more	Copy number gain	See cases	GLikely benign
Select item 866722	NM_001563.4(IMPG1):c.2391T>C (p.Asn797=)	IMPG1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1483378	NM_001563.4(IMPG1):c.2383G>A (p.Glu795Lys)	IMPG1 (E717K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1166320	NM_001563.4(IMPG1):c.2377G>A (p.Asp793Asn)	IMPG1 (D715N +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GBenign
Select item 1508964	NM_001563.4(IMPG1):c.2376A>G (p.Gln792=)	IMPG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2756077	NM_001563.4(IMPG1):c.2364A>T (p.Glu788Asp)	IMPG1 (E710D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1810752	NM_001563.4(IMPG1):c.2362G>T (p.Glu788Ter)	IMPG1 (E710* +1 more)	Single nucleotide variant (nonsense)	Vitelliform macular dystrophy 4	GUncertain significance
Select item 946530	NM_001563.4(IMPG1):c.2350G>A (p.Val784Ile)	IMPG1 (V706I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2847509	NM_001563.4(IMPG1):c.2344C>T (p.Leu782=)	IMPG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1010628	NM_001563.4(IMPG1):c.2338del (p.Glu780fs)	IMPG1 (E702fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1131043	NM_001563.4(IMPG1):c.2325T>C (p.Ser775=)	IMPG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1006453	NM_001563.4(IMPG1):c.2324G>A (p.Ser775Asn)	IMPG1 (S697N +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2001168	NM_001563.4(IMPG1):c.2317G>A (p.Val773Ile)	IMPG1 (V695I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1911491	NM_001563.4(IMPG1):c.2317-8_2317-3del	IMPG1	Deletion (intron variant)	not provided	GUncertain significance
Select item 1900890	NM_001563.4(IMPG1):c.2317-14T>G	IMPG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2820157	NM_001563.4(IMPG1):c.2316+8C>A	IMPG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1169591	NM_001563.4(IMPG1):c.2316+3dup	IMPG1	Duplication (intron variant)	not provided	GBenign
Select item 1968721	NM_001563.4(IMPG1):c.2316G>A (p.Lys772=)	IMPG1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1484226	NM_001563.4(IMPG1):c.2305C>T (p.Gln769Ter)	IMPG1 (Q691* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2709426	NM_001563.4(IMPG1):c.2287_2302A[5]GTTCCAAAATCCCTCTCCCTCTCCCGCTCCCGGGGGGGGGGGGCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAGTTCCAAAATC[1] (p.Gln768fs)	IMPG1 (Q690fs +1 more)	Insertion (frameshift variant)	not provided	GUncertain significance
Select item 838276	NM_001563.4(IMPG1):c.2294T>C (p.Phe765Ser)	IMPG1 (F765S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2065474	NM_001563.4(IMPG1):c.2293T>G (p.Phe765Val)	IMPG1 (F765V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1058155	NM_001563.4(IMPG1):c.2292G>T (p.Lys764Asn)	IMPG1 (K686N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1096537	NM_001563.4(IMPG1):c.2283T>C (p.Ser761=)	IMPG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1164207	NM_001563.4(IMPG1):c.2282G>A (p.Ser761Asn)	IMPG1 (S683N +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GBenign
Select item 1670780	NM_001563.4(IMPG1):c.2245T>C (p.Leu749=)	IMPG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2871053	NM_001563.4(IMPG1):c.2244-5T>C	IMPG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1631931	NM_001563.4(IMPG1):c.2244-12T>C	IMPG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 155438	GRCh38/hg38 6q14.1-16.1(chr6:75926199-92710793)x1	AKIRIN2, ANKRD6 +299 more	Copy number loss	See cases	GPathogenic
Select item 1117347	NM_001563.4(IMPG1):c.2243+20G>A	IMPG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987712	NM_001563.4(IMPG1):c.2243+13T>C	IMPG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2026598	NM_001563.4(IMPG1):c.2243+6T>G	IMPG1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1643641	NM_001563.4(IMPG1):c.2238A>C (p.Pro746=)	IMPG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3109575	NM_001563.4(IMPG1):c.2229G>T (p.Lys743Asn)	IMPG1 (K743N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 849470	NM_001563.4(IMPG1):c.2218C>T (p.Leu740Phe)	IMPG1 (L740F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2297327	NM_001563.4(IMPG1):c.2213A>T (p.Glu738Val)	IMPG1 (E738V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1922038	NM_001563.4(IMPG1):c.2212G>A (p.Glu738Lys)	IMPG1 (E660K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1383130	NM_001563.4(IMPG1):c.2211C>T (p.Cys737=)	IMPG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1928857	NM_001563.4(IMPG1):c.2210G>T (p.Cys737Phe)	IMPG1 (C659F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2702277	NM_001563.4(IMPG1):c.2208A>C (p.Glu736Asp)	IMPG1 (E658D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1535546	NM_001563.4(IMPG1):c.2199C>A (p.Gly733=)	IMPG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1998749	NM_001563.4(IMPG1):c.2193C>T (p.Gly731=)	IMPG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 946971	NM_001563.4(IMPG1):c.2192G>A (p.Gly731Asp)	IMPG1 (G653D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1704196	NM_001563.4(IMPG1):c.2190T>G (p.Cys730Trp)	IMPG1 (C652W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2995173	NM_001563.4(IMPG1):c.2189G>C (p.Cys730Ser)	IMPG1 (C652S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1916020	NM_001563.4(IMPG1):c.2185C>T (p.Leu729Phe)	IMPG1 (L651F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1907883	NM_001563.4(IMPG1):c.2184C>T (p.Gly728=)	IMPG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1004615	NM_001563.4(IMPG1):c.2183G>T (p.Gly728Val)	IMPG1 (G650V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1375943	NM_001563.4(IMPG1):c.2165_2170del (p.Leu722_Gly724delinsArg)	IMPG1	Deletion (inframe_indel)	not provided	GUncertain significance
Select item 959052	NM_001563.4(IMPG1):c.2170G>A (p.Gly724Ser)	IMPG1 (G646S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3058808	NM_001563.4(IMPG1):c.2169C>T (p.Asp723=)	IMPG1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1971992	NM_001563.4(IMPG1):c.2168A>G (p.Asp723Gly)	IMPG1 (D723G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1647842	NM_001563.4(IMPG1):c.2166G>C (p.Leu722=)	IMPG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 936062	NM_001563.4(IMPG1):c.2165T>C (p.Leu722Pro)	IMPG1 (L722P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3027847	NM_001563.4(IMPG1):c.2163C>T (p.Ser721=)	IMPG1	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 2072954	NM_001563.4(IMPG1):c.2162G>C (p.Ser721Thr)	IMPG1 (S643T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369595	NM_001563.4(IMPG1):c.2160dup (p.Ser721fs)	IMPG1 (S643fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 858082	NM_001563.4(IMPG1):c.2156A>G (p.Gln719Arg)	IMPG1 (Q641R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1517572	NM_001563.4(IMPG1):c.2153G>C (p.Ser718Thr)	IMPG1 (S640T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1006454	NM_001563.4(IMPG1):c.2150A>C (p.Asp717Ala)	IMPG1 (D639A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2845194	NM_001563.4(IMPG1):c.2139A>G (p.Lys713=)	IMPG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1013826	NM_001563.4(IMPG1):c.2135G>A (p.Cys712Tyr)	IMPG1 (C634Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 851249	NM_001563.4(IMPG1):c.2134T>C (p.Cys712Arg)	IMPG1 (C634R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1098856	NM_001563.4(IMPG1):c.2132G>A (p.Arg711His)	IMPG1 (R633H +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GBenign
Select item 2523217	NM_001563.4(IMPG1):c.2131C>T (p.Arg711Cys)	IMPG1 (R633C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1513484	NM_001563.4(IMPG1):c.2129G>A (p.Cys710Tyr)	IMPG1 (C632Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1115486	NM_001563.4(IMPG1):c.2126A>G (p.Glu709Gly)	IMPG1 (E631G +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 735610	NM_001563.4(IMPG1):c.2124G>A (p.Ala708=)	IMPG1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1001197	NM_001563.4(IMPG1):c.2123C>T (p.Ala708Val)	IMPG1 (A630V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 839896	NM_001563.4(IMPG1):c.2111G>A (p.Arg704Gln)	IMPG1 (R626Q +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 1165186	NM_001563.4(IMPG1):c.2110C>T (p.Arg704Trp)	IMPG1 (R626W +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GBenign
Select item 2761628	NM_001563.4(IMPG1):c.2107G>C (p.Glu703Gln)	IMPG1 (E703Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1500341	NM_001563.4(IMPG1):c.2107G>A (p.Glu703Lys)	IMPG1 (E703K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1121572	NM_001563.4(IMPG1):c.2106C>T (p.Asn702=)	IMPG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 947273	NM_001563.4(IMPG1):c.2103G>T (p.Lys701Asn)	IMPG1 (K623N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2015968	NM_001563.4(IMPG1):c.2099T>C (p.Val700Ala)	IMPG1 (V700A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2111624	NM_001563.4(IMPG1):c.2089G>C (p.Ala697Pro)	IMPG1 (A697P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2880782	NM_001563.4(IMPG1):c.2083G>A (p.Glu695Lys)	IMPG1 (E695K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1389683	NM_001563.4(IMPG1):c.2082C>T (p.Gly694=)	IMPG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1497082	NM_001563.4(IMPG1):c.2080G>A (p.Gly694Ser)	IMPG1 (G616S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1134918	NM_001563.4(IMPG1):c.2079C>T (p.Cys693=)	IMPG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2807026	NM_001563.4(IMPG1):c.2075C>T (p.Ala692Val)	IMPG1 (A614V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2421889	NM_001563.4(IMPG1):c.2074G>A (p.Ala692Thr)	IMPG1 (A614T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2978881	NM_001563.4(IMPG1):c.2045-14_2073del	IMPG1	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2124791	NM_001563.4(IMPG1):c.2062T>C (p.Cys688Arg)	IMPG1 (C688R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1389876	NM_001563.4(IMPG1):c.2045C>A (p.Ala682Asp)	IMPG1 (A604D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1494512	NM_001563.4(IMPG1):c.2045-3C>G	IMPG1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1584630	NM_001563.4(IMPG1):c.2045-5T>C	IMPG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1966906	NM_001563.4(IMPG1):c.2045-7del	IMPG1	Deletion (intron variant)	not provided	GLikely benign
Select item 961171	NM_001563.4(IMPG1):c.2045-10T>A	IMPG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1902653	NM_001563.4(IMPG1):c.2045-19T>C	IMPG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2797843	NM_001563.4(IMPG1):c.2044+16C>A	IMPG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1157754	NM_001563.4(IMPG1):c.2044+16C>T	IMPG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2795366	NM_001563.4(IMPG1):c.2044+11C>A	IMPG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1140606	NM_001563.4(IMPG1):c.2044+4A>G	IMPG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1103870	NM_001563.4(IMPG1):c.2031C>G (p.Leu677=)	IMPG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1908565	NM_001563.4(IMPG1):c.2027C>T (p.Ser676Phe)	IMPG1 (S676F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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