10288[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC126860263, LOC126860264 +4737 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic
Select item 57469	GRCh38/hg38 7p14.3(chr7:30420933-34560665)x3	ADCYAP1R1, AQP1 +85 more	Copy number gain	See cases	GPathogenic
Select item 152941	GRCh38/hg38 7p14.3(chr7:30938370-33400996)x1	ADCYAP1R1, AVL9 +54 more	Copy number loss	See cases	GLikely pathogenic
Select item 151578	GRCh38/hg38 7p14.3-14.1(chr7:32678391-41044983)x1	AMPH, ANLN +229 more	Copy number loss	See cases	GPathogenic
Select item 360043	NM_203288.2(RP9):c.*420C>G	RP9	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GBenign
Select item 909960	NM_203288.2(RP9):c.*317G>A	RP9	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GLikely benign
Select item 910856	NM_203288.2(RP9):c.*82A>T	RP9	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 360044	NM_203288.2(RP9):c.*75C>T	RP9	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 198295	NM_203288.2(RP9):c.664del (p.Ter222AspextTer?)	RP9	Deletion (frameshift variant +1 more)	Retinitis Pigmentosa, Dominant +3 more	GBenign/Likely benign
Select item 3155889	NM_203288.2(RP9):c.649G>C (p.Gly217Arg)	RP9 (G217R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3027871	NM_203288.2(RP9):c.635C>T (p.Ser212Phe)	RP9 (S212F)	Single nucleotide variant (missense variant)	Retinal dystrophy	GBenign
Select item 795939	NM_203288.2(RP9):c.632C>G (p.Ser211Cys)	RP9 (S211C)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 167609	NM_203288.2(RP9):c.629A>G (p.Lys210Arg)	RP9 (K210R)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 3027872	NM_203288.2(RP9):c.620G>A (p.Arg207Gln)	RP9 (R207Q)	Single nucleotide variant (missense variant)	Retinal dystrophy	GBenign
Select item 2322285	NM_203288.2(RP9):c.617A>C (p.Lys206Thr)	RP9 (K206T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053354	NM_203288.2(RP9):c.612G>A (p.Lys204=)	RP9	Single nucleotide variant (synonymous variant)	RP9-related disorder	GLikely benign
Select item 450590	NM_203288.2(RP9):c.608A>T (p.Lys203Met)	RP9 (K203M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3027873	NM_203288.2(RP9):c.603_607del (p.Lys202fs)	RP9 (K202fs)	Microsatellite (frameshift variant)	Retinal dystrophy	GUncertain significance
Select item 910857	NM_203288.2(RP9):c.584A>T (p.Lys195Met)	RP9 (K195M)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GUncertain significance
Select item 2251213	NM_203288.2(RP9):c.536C>T (p.Ser179Phe)	RP9 (S179F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529709	NM_203288.2(RP9):c.529A>G (p.Ser177Gly)	RP9 (S177G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335	NM_203288.2(RP9):c.509A>G (p.Asp170Gly)	RP9 (D170G)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GUncertain significance
Select item 2657382	NM_203288.2(RP9):c.486G>A (p.Gln162=)	RP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2539607	NM_203288.2(RP9):c.473A>G (p.Gln158Arg)	RP9 (Q158R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155888	NM_203288.2(RP9):c.470T>C (p.Ile157Thr)	RP9 (I157T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2991429	NM_203288.2(RP9):c.467+20A>G	RP9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1977882	NM_203288.2(RP9):c.467+17_467+19del	RP9	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1940715	NM_203288.2(RP9):c.467+14G>T	RP9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2002491	NM_203288.2(RP9):c.467+9_467+11del	RP9	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1899551	NM_203288.2(RP9):c.467+9G>A	RP9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2050907	NM_203288.2(RP9):c.467+8C>T	RP9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1957787	NM_203288.2(RP9):c.467+8C>A	RP9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 167610	NM_203288.2(RP9):c.463G>A (p.Val155Ile)	RP9 (V155I)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 1534495	NM_203288.2(RP9):c.462C>T (p.Asp154=)	RP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 167611	NM_203288.2(RP9):c.459G>A (p.Lys153=)	RP9	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1945022	NM_203288.2(RP9):c.456A>G (p.Glu152=)	RP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1976518	NM_203288.2(RP9):c.448C>T (p.Arg150Ter)	RP9 (R150*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1928325	NM_203288.2(RP9):c.437G>A (p.Arg146Gln)	RP9 (R146Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2900897	NM_203288.2(RP9):c.436C>T (p.Arg146Ter)	RP9 (R146*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2419187	NM_203288.2(RP9):c.432C>T (p.Ile144=)	RP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3334	NM_203288.2(RP9):c.410A>T (p.His137Leu)	RP9 (H137L)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 9	GUncertain significance
Select item 2419341	NM_203288.2(RP9):c.406-4T>C	RP9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974691	NM_203288.2(RP9):c.406-17C>T	RP9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2036817	NM_203288.2(RP9):c.405+13dup	RP9	Duplication (intron variant)	not provided	GLikely benign
Select item 1907429	NM_203288.2(RP9):c.403G>A (p.Val135Met)	RP9 (V135M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2858341	NM_203288.2(RP9):c.400A>G (p.Arg134Gly)	RP9 (R134G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3027874	NM_203288.2(RP9):c.396G>C (p.Gln132His)	RP9 (Q132H)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 1937721	NM_203288.2(RP9):c.386A>C (p.Lys129Thr)	RP9 (K129T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2089036	NM_203288.2(RP9):c.380A>G (p.Asn127Ser)	RP9 (N127S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1950334	NM_203288.2(RP9):c.340C>T (p.Arg114Ter)	RP9 (R114*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2023236	NM_203288.2(RP9):c.335del (p.Gly112fs)	RP9 (G112fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2080267	NM_203288.2(RP9):c.315T>C (p.Cys105=)	RP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1386449	NM_203288.2(RP9):c.314-1G>A	RP9	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2723201	NM_203288.2(RP9):c.314-9_314-4del	RP9	Deletion (intron variant)	not provided	GLikely benign
Select item 360045	NM_203288.2(RP9):c.314-9C>T	RP9	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1327968	NM_203288.2(RP9):c.313+44T>A	RP9	Single nucleotide variant (intron variant)	Retinitis pigmentosa 9	GBenign
Select item 2967264	NM_203288.2(RP9):c.313+17T>C	RP9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1994453	NM_203288.2(RP9):c.313+14_313+15del	RP9	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1971747	NM_203288.2(RP9):c.313+6T>C	RP9	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1309262	NM_203288.2(RP9):c.313+5G>C	RP9	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1960317	NM_203288.2(RP9):c.312G>T (p.Gln104His)	RP9 (Q104H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2114127	NM_203288.2(RP9):c.301A>G (p.Lys101Glu)	RP9 (K101E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 593532	NM_203288.2(RP9):c.290G>A (p.Gly97Glu)	RP9 (G97E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2902088	NM_203288.2(RP9):c.288G>A (p.Leu96=)	RP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2120648	NM_203288.2(RP9):c.287T>C (p.Leu96Pro)	RP9 (L96P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2319091	NM_203288.2(RP9):c.283C>G (p.Pro95Ala)	RP9 (P95A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2105032	NM_203288.2(RP9):c.274C>G (p.Leu92Val)	RP9 (L92V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2302638	NM_203288.2(RP9):c.265A>G (p.Thr89Ala)	RP9 (T89A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3027875	NM_203288.2(RP9):c.258T>C (p.His86=)	RP9	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3051228	NM_203288.2(RP9):c.249T>C (p.Phe83=)	RP9	Single nucleotide variant (synonymous variant)	RP9-related disorder	GLikely benign
Select item 2017590	NM_203288.2(RP9):c.244del (p.Glu82fs)	RP9 (E82fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2175511	NM_203288.2(RP9):c.237C>T (p.His79=)	RP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2059478	NM_203288.2(RP9):c.235C>T (p.His79Tyr)	RP9 (H79Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1933493	NM_203288.2(RP9):c.231T>C (p.Asn77=)	RP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 196604	NM_203288.2(RP9):c.216A>G (p.Pro72=)	RP9	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 872217	NM_203288.2(RP9):c.206A>T (p.Asp69Val)	RP9 (D69V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2024979	NM_203288.2(RP9):c.198G>A (p.Lys66=)	RP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1897991	NM_203288.2(RP9):c.190G>A (p.Glu64Lys)	RP9 (E64K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2416739	NM_203288.2(RP9):c.188A>T (p.Asp63Val)	RP9 (D63V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2549004	NM_203288.2(RP9):c.187G>C (p.Asp63His)	RP9 (D63H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2865452	NM_203288.2(RP9):c.184-3T>C	RP9	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1942315	NM_203288.2(RP9):c.184-11C>A	RP9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1910118	NM_203288.2(RP9):c.184-11C>T	RP9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1616626	NM_203288.2(RP9):c.184-13T>G	RP9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2790687	NM_203288.2(RP9):c.183+19C>T	RP9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3027877	NM_203288.2(RP9):c.182A>G (p.Lys61Arg)	RP9 (K61R)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 2314018	NM_203288.2(RP9):c.173G>A (p.Gly58Glu)	RP9 (G58E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2033356	NM_203288.2(RP9):c.164C>T (p.Pro55Leu)	RP9 (P55L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2054657	NM_203288.2(RP9):c.159A>G (p.Glu53=)	RP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1946585	NM_203288.2(RP9):c.157G>A (p.Glu53Lys)	RP9 (E53K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 360046	NM_203288.2(RP9):c.156C>T (p.Tyr52=)	RP9	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2875864	NM_203288.2(RP9):c.153delT (p.Tyr52fs)	RP9 (Y52fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1993147	NM_203288.2(RP9):c.153-3C>T	RP9	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1934753	NM_203288.2(RP9):c.153-14T>C	RP9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1599225	NM_203288.2(RP9):c.152+18G>A	LOC129998224, RP9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2976890	NM_203288.2(RP9):c.152+13C>T	LOC129998224, RP9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2099791	NM_203288.2(RP9):c.152+1G>T	LOC129998224, RP9	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1315203	NM_203288.2(RP9):c.152T>C (p.Phe51Ser)	LOC129998224, RP9 (F51S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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