ClinVar for Gene (Select 611) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3302338	NM_001385125.1(OPN1SW):c.605T>C (p.Phe202Ser)	OPN1SW (F202S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302337	NM_001385125.1(OPN1SW):c.578G>C (p.Arg193Pro)	OPN1SW (R193P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245871	NC_000007.13:g.(?_128407490)_(128412733_?)del	CALU, OPN1SW	Deletion	not provided	GUncertain significance
Select item 3245743	NC_000007.13:g.(?_128388409)_(128694824_?)del	ATP6V1F, CALU +6 more	Deletion	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 3204396	NM_001385125.1(OPN1SW):c.805A>G (p.Met269Val)	OPN1SW (M269V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204395	NM_001385125.1(OPN1SW):c.466A>G (p.Thr156Ala)	OPN1SW (T156A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204394	NM_001385125.1(OPN1SW):c.374T>C (p.Leu125Pro)	OPN1SW (L125P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204393	NM_001385125.1(OPN1SW):c.269T>A (p.Val90Asp)	OPN1SW (V90D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204391	NM_001385125.1(OPN1SW):c.215A>G (p.Asn72Ser)	OPN1SW (N72S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062992	GRCh37/hg19 7q31.31-33(chr7:120582003-137699953)x1	AASS, AGBL3 +100 more	Copy number loss	not specified	GPathogenic
Select item 3020888	NM_001385125.1(OPN1SW):c.513-18G>A	OPN1SW	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999784	NM_001385125.1(OPN1SW):c.836T>C (p.Leu279Ser)	OPN1SW (L279S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2995295	NM_001385125.1(OPN1SW):c.33T>C (p.Asn11=)	OPN1SW	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2982607	NM_001385125.1(OPN1SW):c.777C>A (p.Tyr259Ter)	OPN1SW (Y259*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2977246	NM_001385125.1(OPN1SW):c.75T>C (p.Ile25=)	OPN1SW	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972823	NM_001385125.1(OPN1SW):c.688C>T (p.Gln230Ter)	OPN1SW (Q230*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2961992	NM_001385125.1(OPN1SW):c.343+1G>A	OPN1SW	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2959357	NM_001385125.1(OPN1SW):c.973G>A (p.Asp325Asn)	CALU, OPN1SW (D325N)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2873828	NM_001385125.1(OPN1SW):c.965A>C (p.Asp322Ala)	OPN1SW, CALU (D322A)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2868141	NM_001385125.1(OPN1SW):c.100C>T (p.Gln34Ter)	OPN1SW (Q34*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2854845	NM_001385125.1(OPN1SW):c.1014G>A (p.Ser338=)	CALU, OPN1SW	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2847188	NM_001385125.1(OPN1SW):c.83T>A (p.Val28Asp)	OPN1SW (V28D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2844555	NM_001385125.1(OPN1SW):c.678+9C>T	OPN1SW	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2823595	NM_001385125.1(OPN1SW):c.540del (p.Cys181fs)	OPN1SW (C181fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2818130	NM_001385125.1(OPN1SW):c.665G>A (p.Arg222Lys)	OPN1SW (R222K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2809629	NM_001385125.1(OPN1SW):c.786C>T (p.Tyr262=)	OPN1SW	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2805593	NM_001385125.1(OPN1SW):c.27C>G (p.Phe9Leu)	OPN1SW (F9L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2793916	NM_001385125.1(OPN1SW):c.919-19A>G	CALU, OPN1SW	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2780863	NM_001385125.1(OPN1SW):c.375G>A (p.Leu125=)	OPN1SW	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2754993	NM_001385125.1(OPN1SW):c.582C>T (p.Ser194=)	OPN1SW	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2753910	NM_001385125.1(OPN1SW):c.799A>C (p.Met267Leu)	OPN1SW (M267L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2741416	NM_001385125.1(OPN1SW):c.490C>A (p.Pro164Thr)	OPN1SW (P164T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2741154	NM_001385125.1(OPN1SW):c.104C>T (p.Ala35Val)	OPN1SW (A35V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2729363	NM_001385125.1(OPN1SW):c.78C>G (p.Ala26=)	OPN1SW	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2717273	NM_001385125.1(OPN1SW):c.624G>A (p.Val208=)	OPN1SW	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2711318	NM_001385125.1(OPN1SW):c.1011C>T (p.Val337=)	CALU, OPN1SW	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2685269	GRCh37/hg19 7q31.33-32.2(chr7:127076892-129405807)x1	AHCYL2, ARF5 +26 more	Copy number loss	not provided	GPathogenic
Select item 2624423	NM_001385125.1(OPN1SW):c.22C>G (p.Leu8Val)	OPN1SW (L8V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600036	NM_001385125.1(OPN1SW):c.301C>T (p.Arg101Cys)	OPN1SW (R101C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479825	NM_001385125.1(OPN1SW):c.241T>C (p.Cys81Arg)	OPN1SW (C81R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2415912	NM_001385125.1(OPN1SW):c.217G>A (p.Val73Met)	OPN1SW (V73M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2350167	NM_001385125.1(OPN1SW):c.925G>C (p.Ala309Pro)	CALU, OPN1SW (A309P)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2331854	NM_001385125.1(OPN1SW):c.586T>C (p.Ser196Pro)	OPN1SW (S196P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307894	NM_001385125.1(OPN1SW):c.686C>T (p.Ala229Val)	OPN1SW (A229V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305114	NM_001385125.1(OPN1SW):c.356G>A (p.Gly119Glu)	OPN1SW (G119E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304342	NM_001385125.1(OPN1SW):c.289T>G (p.Phe97Val)	OPN1SW (F97V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249939	NM_001385125.1(OPN1SW):c.748G>A (p.Val250Met)	OPN1SW (V250M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240721	NM_001385125.1(OPN1SW):c.1012T>C (p.Ser338Pro)	CALU, OPN1SW (S338P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2202747	NM_001385125.1(OPN1SW):c.385C>T (p.Arg129Cys)	OPN1SW (R129C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2169048	NM_001385125.1(OPN1SW):c.194C>T (p.Pro65Leu)	OPN1SW (P65L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2161296	NM_001385125.1(OPN1SW):c.632C>G (p.Ser211Cys)	OPN1SW (S211C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2152040	NM_001385125.1(OPN1SW):c.818G>A (p.Arg273His)	OPN1SW (R273H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2144464	NM_001385125.1(OPN1SW):c.279T>C (p.Cys93=)	OPN1SW	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2134131	NM_001385125.1(OPN1SW):c.185T>C (p.Leu62Ser)	OPN1SW (L62S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2127394	NM_001385125.1(OPN1SW):c.470T>C (p.Ile157Thr)	OPN1SW (I157T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2119304	NM_001385125.1(OPN1SW):c.331G>A (p.Gly111Ser)	OPN1SW (G111S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2118086	NM_001385125.1(OPN1SW):c.803_806dup (p.Met269fs)	OPN1SW (M269fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2115402	NM_001385125.1(OPN1SW):c.1028G>A (p.Gly343Asp)	CALU, OPN1SW (G343D)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2115289	NM_001385125.1(OPN1SW):c.343+15A>T	OPN1SW	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2115288	NM_001385125.1(OPN1SW):c.343+15_343+16insT	OPN1SW	Insertion (intron variant)	not provided	GLikely benign
Select item 2101796	NM_001385125.1(OPN1SW):c.507G>C (p.Trp169Cys)	OPN1SW (W169C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2100880	NM_001385125.1(OPN1SW):c.973G>C (p.Asp325His)	CALU, OPN1SW (D325H)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2095554	NM_001385125.1(OPN1SW):c.784T>C (p.Tyr262His)	OPN1SW (Y262H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2094114	NM_001385125.1(OPN1SW):c.39T>C (p.Ser13=)	OPN1SW	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2086244	NM_001385125.1(OPN1SW):c.817C>T (p.Arg273Cys)	OPN1SW (R273C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2067976	NM_001385125.1(OPN1SW):c.596G>C (p.Trp199Ser)	OPN1SW (W199S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2053752	NM_001385125.1(OPN1SW):c.856T>C (p.Ser286Pro)	OPN1SW (S286P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2033623	NM_001385125.1(OPN1SW):c.344-5C>T	OPN1SW	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2022725	NM_001385125.1(OPN1SW):c.679-6C>T	OPN1SW	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2016508	NM_001385125.1(OPN1SW):c.65A>G (p.Gln22Arg)	OPN1SW (Q22R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2014084	NM_001385125.1(OPN1SW):c.740T>C (p.Met247Thr)	OPN1SW (M247T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2007062	NM_001385125.1(OPN1SW):c.755T>G (p.Val252Gly)	OPN1SW (V252G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2001750	NM_001385125.1(OPN1SW):c.130A>G (p.Ile44Val)	OPN1SW (I44V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2000824	NM_001385125.1(OPN1SW):c.103del (p.Ala35fs)	OPN1SW (A35fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1999848	NM_001385125.1(OPN1SW):c.679-1G>C	OPN1SW	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1993617	NM_001385125.1(OPN1SW):c.250T>C (p.Ser84Pro)	OPN1SW (S84P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1987808	NM_001385125.1(OPN1SW):c.888T>G (p.Asn296Lys)	OPN1SW (N296K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1977417	NM_001385125.1(OPN1SW):c.678+8dup	OPN1SW	Duplication (intron variant)	not provided	GLikely benign
Select item 1969880	NM_001385125.1(OPN1SW):c.217_222delinsTACA (p.Val73fs)	OPN1SW (V73fs)	Indel (frameshift variant)	not provided	GUncertain significance
Select item 1969338	NM_001385125.1(OPN1SW):c.788C>T (p.Ala263Val)	OPN1SW (A263V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1963601	NM_001385125.1(OPN1SW):c.678+11T>C	OPN1SW	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1960097	NM_001385125.1(OPN1SW):c.795C>T (p.Phe265=)	OPN1SW	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1955907	NM_001385125.1(OPN1SW):c.808G>A (p.Val270Ile)	OPN1SW (V270I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1952622	NM_001385125.1(OPN1SW):c.737G>A (p.Arg246His)	OPN1SW (R246H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1938570	NM_001385125.1(OPN1SW):c.512+3G>A	OPN1SW	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1935197	NM_001385125.1(OPN1SW):c.530T>C (p.Leu177Pro)	OPN1SW (L177P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1934480	NM_001385125.1(OPN1SW):c.787G>A (p.Ala263Thr)	OPN1SW (A263T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1932767	NM_001385125.1(OPN1SW):c.513-13del	OPN1SW	Deletion (intron variant)	not provided	GLikely benign
Select item 1931567	NM_001385125.1(OPN1SW):c.668C>T (p.Ala223Val)	OPN1SW (A223V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1923580	NM_001385125.1(OPN1SW):c.480C>T (p.Gly160=)	OPN1SW	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1922173	NM_001385125.1(OPN1SW):c.291C>T (p.Phe97=)	OPN1SW	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1918832	NM_001385125.1(OPN1SW):c.512+14G>A	OPN1SW	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1914843	NM_001385125.1(OPN1SW):c.348G>C (p.Leu116=)	OPN1SW	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1911954	NM_001385125.1(OPN1SW):c.777C>T (p.Tyr259=)	OPN1SW	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1905900	NM_001385125.1(OPN1SW):c.966T>C (p.Asp322=)	CALU, OPN1SW	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1899550	NM_001385125.1(OPN1SW):c.577C>T (p.Arg193Cys)	OPN1SW (R193C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1722203	NM_001385125.1(OPN1SW):c.807G>A (p.Met269Ile)	OPN1SW (M269I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1720495	NM_001385125.1(OPN1SW):c.359G>C (p.Trp120Ser)	OPN1SW (W120S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1720487	NM_001385125.1(OPN1SW):c.597G>C (p.Trp199Cys)	OPN1SW (W199C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance

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