Related gene-specific medical variations for Gene (Select 6101) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3315065	NM_006269.2(RP1):c.5843G>T (p.Gly1948Val)	LOC126860392, RP1 (G1948V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3028129	NM_006269.2(RP1):c.5753G>A (p.Cys1918Tyr)	LOC126860392, RP1 (C1918Y)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028128	NM_006269.2(RP1):c.5567G>C (p.Gly1856Ala)	LOC126860392, RP1 (G1856A)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028127	NM_006269.2(RP1):c.5552A>C (p.His1851Pro)	LOC126860392, RP1 (H1851P)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GLikely benign
Select item 3028126	NM_006269.2(RP1):c.5502G>A (p.Leu1834=)	LOC126860392, RP1	Single nucleotide variant (synonymous variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 3028125	NM_006269.2(RP1):c.4952C>T (p.Thr1651Ile)	LOC126860392, RP1 (T1651I)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028124	NM_006269.2(RP1):c.4891G>T (p.Ala1631Ser)	LOC126860392, RP1 (A1631S)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3019874	NM_006269.2(RP1):c.5595A>G (p.Thr1865=)	LOC126860392, RP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3010170	NM_006269.2(RP1):c.5971C>G (p.Gln1991Glu)	LOC126860392, RP1 (Q1991E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3002845	NM_006269.2(RP1):c.5374G>T (p.Ala1792Ser)	LOC126860392, RP1 (A1792S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3001863	NM_006269.2(RP1):c.5330A>G (p.Asp1777Gly)	LOC126860392, RP1 (D1777G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2975979	NM_006269.2(RP1):c.5360A>C (p.His1787Pro)	LOC126860392, RP1 (H1787P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2973941	NM_006269.2(RP1):c.5638C>A (p.Pro1880Thr)	LOC126860392, RP1 (P1880T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2968158	NM_006269.2(RP1):c.5943T>C (p.Ile1981=)	LOC126860392, RP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2955377	NM_006269.2(RP1):c.5248G>A (p.Glu1750Lys)	LOC126860392, RP1 (E1750K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2900745	NM_006269.2(RP1):c.5066G>C (p.Ser1689Thr)	LOC126860392, RP1 (S1689T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2891028	NM_006269.2(RP1):c.5629A>G (p.Lys1877Glu)	LOC126860392, RP1 (K1877E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2818090	NM_006269.2(RP1):c.5270C>T (p.Ser1757Leu)	LOC126860392, RP1 (S1757L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2795404	NM_006269.2(RP1):c.5306C>T (p.Thr1769Ile)	LOC126860392, RP1 (T1769I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2789145	NM_006269.2(RP1):c.5831A>G (p.Glu1944Gly)	LOC126860392, RP1 (E1944G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2787882	NM_006269.2(RP1):c.6066G>T (p.Lys2022Asn)	LOC126860392, RP1 (K2022N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2786089	NM_006269.2(RP1):c.5321C>G (p.Thr1774Ser)	LOC126860392, RP1 (T1774S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2776853	NM_006269.2(RP1):c.5286C>A (p.Gly1762=)	LOC126860392, RP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2776692	NM_006269.2(RP1):c.5421A>C (p.Glu1807Asp)	LOC126860392, RP1 (E1807D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2764618	NM_006269.2(RP1):c.4894A>G (p.Ile1632Val)	LOC126860392, RP1 (I1632V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2764416	NM_006269.2(RP1):c.5832A>G (p.Glu1944=)	LOC126860392, RP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2747956	NM_006269.2(RP1):c.5078T>A (p.Leu1693Ter)	LOC126860392, RP1 (L1693*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2738390	NM_006269.2(RP1):c.4955G>A (p.Arg1652His)	LOC126860392, RP1 (R1652H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2556466	NM_006269.2(RP1):c.5722G>C (p.Asp1908His)	LOC126860392, RP1 (D1908H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2524320	NM_006269.2(RP1):c.4924A>T (p.Ile1642Phe)	LOC126860392, RP1 (I1642F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2500818	NM_006269.2(RP1):c.4941dup (p.Pro1648fs)	LOC126860392, RP1 (P1648fs)	Duplication (frameshift variant +1 more)	Retinitis pigmentosa 1	GLikely pathogenic
Select item 2435464	NM_006269.2(RP1):c.871G>T (p.Asp291Tyr)	RP1 (D291Y)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 1	GUncertain significance
Select item 2329394	NM_006269.2(RP1):c.4970G>C (p.Cys1657Ser)	LOC126860392, RP1 (C1657S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2203420	NM_006269.2(RP1):c.5981T>G (p.Phe1994Cys)	LOC126860392, RP1 (F1994C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2191535	NM_006269.2(RP1):c.5375C>T (p.Ala1792Val)	LOC126860392, RP1 (A1792V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2142719	NM_006269.2(RP1):c.5350C>T (p.Pro1784Ser)	LOC126860392, RP1 (P1784S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2136670	NM_006269.2(RP1):c.5446T>C (p.Cys1816Arg)	LOC126860392, RP1 (C1816R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2134630	NM_006269.2(RP1):c.5913C>T (p.Asn1971=)	LOC126860392, RP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2120566	NM_006269.2(RP1):c.5111G>T (p.Cys1704Phe)	LOC126860392, RP1 (C1704F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2113212	NM_006269.2(RP1):c.4943C>T (p.Pro1648Leu)	LOC126860392, RP1 (P1648L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2109210	NM_006269.2(RP1):c.4934del (p.Ser1645fs)	LOC126860392, RP1 (S1645fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2102903	NM_006269.2(RP1):c.5013T>G (p.Ser1671Arg)	LOC126860392, RP1 (S1671R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2101621	NM_006269.2(RP1):c.5468A>G (p.His1823Arg)	LOC126860392, RP1 (H1823R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2100122	NM_006269.2(RP1):c.5733T>C (p.Tyr1911=)	LOC126860392, RP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2084854	NM_006269.2(RP1):c.5454C>G (p.Tyr1818Ter)	LOC126860392, RP1 (Y1818*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2073822	NM_006269.2(RP1):c.6041G>T (p.Gly2014Val)	LOC126860392, RP1 (G2014V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2062810	NM_006269.2(RP1):c.5338A>G (p.Ser1780Gly)	LOC126860392, RP1 (S1780G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2058838	NM_006269.2(RP1):c.4921A>G (p.Ile1641Val)	LOC126860392, RP1 (I1641V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2058440	NM_006269.2(RP1):c.5304CAC[1] (p.Thr1770del)	LOC126860392, RP1 (T1770del)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2048868	NM_006269.2(RP1):c.5238G>A (p.Trp1746Ter)	LOC126860392, RP1 (W1746*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2041252	NM_006269.2(RP1):c.5174_5175delinsTG (p.Gln1725Leu)	LOC126860392, RP1 (Q1725L)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 2032397	NM_006269.2(RP1):c.5625T>A (p.Gly1875=)	LOC126860392, RP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2022474	NM_006269.2(RP1):c.5322C>G (p.Thr1774=)	RP1, LOC126860392	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2014261	NM_006269.2(RP1):c.5079G>T (p.Leu1693Phe)	RP1, LOC126860392 (L1693F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2009901	NM_006269.2(RP1):c.5634C>T (p.Val1878=)	LOC126860392, RP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2005686	NM_006269.2(RP1):c.5758A>T (p.Ile1920Leu)	LOC126860392, RP1 (I1920L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2002591	NM_006269.2(RP1):c.5584A>G (p.Arg1862Gly)	LOC126860392, RP1 (R1862G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1996899	NM_006269.2(RP1):c.5749C>T (p.His1917Tyr)	LOC126860392, RP1 (H1917Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1981867	NM_006269.2(RP1):c.5620G>T (p.Ala1874Ser)	LOC126860392, RP1 (A1874S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1978317	NM_006269.2(RP1):c.5135A>G (p.Asn1712Ser)	LOC126860392, RP1 (N1712S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1974973	NM_006269.2(RP1):c.5717C>G (p.Ser1906Cys)	LOC126860392, RP1 (S1906C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1960246	NM_006269.2(RP1):c.5453A>G (p.Tyr1818Cys)	LOC126860392, RP1 (Y1818C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1953697	NM_006269.2(RP1):c.5525G>C (p.Cys1842Ser)	RP1, LOC126860392 (C1842S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1949598	NM_006269.2(RP1):c.6073C>T (p.Gln2025Ter)	LOC126860392, RP1 (Q2025*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1948815	NM_006269.2(RP1):c.5230G>C (p.Gly1744Arg)	LOC126860392, RP1 (G1744R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1941998	NM_006269.2(RP1):c.5555C>T (p.Thr1852Ile)	LOC126860392, RP1 (T1852I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1934735	NM_006269.2(RP1):c.5594C>T (p.Thr1865Ile)	LOC126860392, RP1 (T1865I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1930654	NM_006269.2(RP1):c.5505G>A (p.Leu1835=)	LOC126860392, RP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1921155	NM_006269.2(RP1):c.5221A>T (p.Ile1741Phe)	LOC126860392, RP1 (I1741F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1917839	NM_006269.2(RP1):c.5321C>T (p.Thr1774Ile)	LOC126860392, RP1 (T1774I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1915615	NM_006269.2(RP1):c.5513G>A (p.Arg1838His)	LOC126860392, RP1 (R1838H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1911911	NM_006269.2(RP1):c.5509G>T (p.Val1837Phe)	LOC126860392, RP1 (V1837F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1908899	NM_006269.2(RP1):c.5898G>A (p.Val1966=)	LOC126860392, RP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1908372	NM_006269.2(RP1):c.5829T>C (p.Ile1943=)	LOC126860392, RP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1908169	NM_006269.2(RP1):c.5080C>A (p.Gln1694Lys)	LOC126860392, RP1 (Q1694K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1903533	NM_006269.2(RP1):c.5512C>T (p.Arg1838Cys)	LOC126860392, RP1 (R1838C)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 1900032	NM_006269.2(RP1):c.5048C>T (p.Ser1683Phe)	LOC126860392, RP1 (S1683F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1720987	NM_006269.2(RP1):c.5906A>T (p.Glu1969Val)	LOC126860392, RP1 (E1969V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1718491	NM_006269.2(RP1):c.5786A>G (p.Asn1929Ser)	LOC126860392, RP1 (N1929S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1715356	NM_006269.2(RP1):c.5384C>T (p.Pro1795Leu)	LOC126860392, RP1 (P1795L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1715355	NM_006269.2(RP1):c.5252A>G (p.Asn1751Ser)	LOC126860392, RP1 (N1751S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1714444	NM_006269.2(RP1):c.5930G>A (p.Arg1977Lys)	LOC126860392, RP1 (R1977K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1667403	NM_006269.2(RP1):c.6045A>G (p.Leu2015=)	LOC126860392, RP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1666521	NM_006269.2(RP1):c.5077T>C (p.Leu1693=)	LOC126860392, RP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1648261	NM_006269.2(RP1):c.4995G>A (p.Gln1665=)	LOC126860392, RP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1633531	NM_006269.2(RP1):c.5559G>A (p.Glu1853=)	LOC126860392, RP1	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 1633183	NM_006269.2(RP1):c.6006T>C (p.Gly2002=)	LOC126860392, RP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1617801	NM_006269.2(RP1):c.5403C>G (p.Ser1801=)	LOC126860392, RP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1607301	NM_006269.2(RP1):c.6051A>G (p.Glu2017=)	LOC126860392, RP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1604472	NM_006269.2(RP1):c.6042G>A (p.Gly2014=)	LOC126860392, RP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1579292	NM_006269.2(RP1):c.5370T>C (p.Asn1790=)	LOC126860392, RP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1571627	NM_006269.2(RP1):c.5328T>C (p.Leu1776=)	LOC126860392, RP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1568110	NM_006269.2(RP1):c.6030T>A (p.Ile2010=)	LOC126860392, RP1	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 1567564	NM_006269.2(RP1):c.5043C>G (p.Gly1681=)	RP1, LOC126860392	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1565082	NM_006269.2(RP1):c.4956C>A (p.Arg1652=)	LOC126860392, RP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1541938	NM_006269.2(RP1):c.5754C>T (p.Cys1918=)	LOC126860392, RP1	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 1540982	NM_006269.2(RP1):c.5763A>G (p.Leu1921=)	LOC126860392, RP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1523600	NM_006269.2(RP1):c.5542G>A (p.Ala1848Thr)	LOC126860392, RP1 (A1848T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1521729	NM_006269.2(RP1):c.4919A>G (p.Asp1640Gly)	LOC126860392, RP1 (D1640G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1519446	NM_006269.2(RP1):c.4955G>T (p.Arg1652Leu)	LOC126860392, RP1 (R1652L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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