Related gene-specific medical variations for Gene (Select 6100) - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3066364	NM_203288.2(RP9):c.5C>A (p.Ser2Ter)	LOC129998225, RP9 (S2*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 9	GLikely pathogenic
Select item 3027880	NM_203288.2(RP9):c.17G>T (p.Gly6Val)	LOC129998225, RP9 (G6V)	Single nucleotide variant (missense variant)	Retinal dystrophy	GBenign
Select item 3027879	NM_203288.2(RP9):c.56G>C (p.Arg19Pro)	LOC129998225, RP9 (R19P)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027878	NM_203288.2(RP9):c.129G>T (p.Gln43His)	LOC129998224, RP9 (Q43H)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3010670	NM_203288.2(RP9):c.150C>T (p.Ser50=)	RP9, LOC129998224	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976890	NM_203288.2(RP9):c.152+13C>T	LOC129998224, RP9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972986	NM_203288.2(RP9):c.99G>C (p.Lys33Asn)	LOC129998224, RP9 (K33N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2956821	NM_203288.2(RP9):c.38C>T (p.Ala13Val)	LOC129998225, RP9 (A13V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2920380	NM_203288.2(RP9):c.17G>A (p.Gly6Glu)	LOC129998225, RP9 (G6E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2792214	NM_203288.2(RP9):c.27C>G (p.Asp9Glu)	LOC129998225, RP9 (D9E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2731697	NM_203288.2(RP9):c.117del (p.Gln40fs)	LOC129998224, RP9 (Q40fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2617573	NM_203288.2(RP9):c.129G>C (p.Gln43His)	LOC129998224, RP9 (Q43H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2572686	NM_203288.2(RP9):c.46C>T (p.Arg16Trp)	LOC129998225, RP9 (R16W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2540265	NM_203288.2(RP9):c.122A>C (p.Gln41Pro)	LOC129998224, RP9 (Q41P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532990	NM_203288.2(RP9):c.89G>T (p.Arg30Leu)	LOC129998224, RP9 (R30L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284886	NM_203288.2(RP9):c.86G>C (p.Arg29Pro)	LOC129998224, RP9 (R29P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2128960	NM_203288.2(RP9):c.47GGC[3] (p.Arg17_Pro18insArg)	LOC129998225, RP9	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2122705	NM_203288.2(RP9):c.1A>G (p.Met1Val)	LOC129998225, RP9 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2115003	NM_203288.2(RP9):c.130C>T (p.Gln44Ter)	LOC129998224, RP9 (Q44*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2101926	NM_203288.2(RP9):c.138G>A (p.Lys46=)	RP9, LOC129998224	Single nucleotide variant (synonymous 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 2055443	NM_203288.2(RP9):c.90G>A (p.Arg30=)	LOC129998224, RP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1986208	NM_203288.2(RP9):c.106C>T (p.Arg36Ter)	LOC129998224, RP9 (R36*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1961864	NM_203288.2(RP9):c.128A>G (p.Gln43Arg)	LOC129998224, RP9 (Q43R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1958361	NM_203288.2(RP9):c.107G>A (p.Arg36Gln)	LOC129998224, RP9 (R36Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1948691	NM_203288.2(RP9):c.25_26delinsTT (p.Asp9Phe)	LOC129998225, RP9 (D9F)	Indel (missense variant)	not provided	GUncertain significance
Select item 1933583	NM_203288.2(RP9):c.93G>C (p.Glu31Asp)	LOC129998224, RP9 (E31D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1918615	NM_203288.2(RP9):c.44C>T (p.Ala15Val)	LOC129998225, RP9 (A15V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1901575	NM_203288.2(RP9):c.5C>G (p.Ser2Trp)	LOC129998225, RP9 (S2W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1599225	NM_203288.2(RP9):c.152+18G>A	LOC129998224, RP9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1463983	NM_203288.2(RP9):c.58G>A (p.Glu20Lys)	LOC129998225, RP9 (E20K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1437677	NM_203288.2(RP9):c.109C>T (p.His37Tyr)	LOC129998224, RP9 (H37Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1415189	NM_203288.2(RP9):c.117GCAGCAGCT[3] (p.40QQL[3])	LOC129998224, RP9	Microsatellite (inframe_insertion)	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
Select item 912074	NM_203288.2(RP9):c.32G>A (p.Gly11Glu)	LOC129998225, RP9 (G11E)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 423191	NM_203288.2(RP9):c.5C>T (p.Ser2Leu)	LOC129998225, RP9 (S2L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 394705	GRCh37/hg19 7p14.3(chr7:33134559-33139024)x3	RP9	Copy number gain	See cases	GBenign/Likely benign
Select item 193521	NM_203288.2(RP9):c.34G>A (p.Ala12Thr)	LOC129998225, RP9 (A12T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity

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Links from Gene

Items: 38