LRIT3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	LOC129993082, LOC129993083 +661 more	Copy number gain	See cases	GPathogenic
Select item 58034	GRCh38/hg38 4q24-25(chr4:105778347-110206873)x3	AIMP1, CASP6 +106 more	Copy number gain	See cases	GPathogenic
Select item 57893	GRCh38/hg38 4q25(chr4:109800241-109990141)x3	CFI, EGF +12 more	Copy number gain	See cases	GUncertain significance
Select item 347179	NM_198506.5(LRIT3):c.-14C>G	LRIT3	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GLikely benign
Select item 1404668	NM_198506.5(LRIT3):c.1A>G (p.Met1Val)	LRIT3 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1940840	NM_198506.5(LRIT3):c.3G>A (p.Met1Ile)	LRIT3 (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1935036	NM_198506.5(LRIT3):c.5A>T (p.His2Leu)	LRIT3 (H2L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 631935	NM_198506.5(LRIT3):c.15_16insAT (p.Cys6fs)	LRIT3 (C6fs)	Insertion (frameshift variant)	Congenital stationary night blindness 1F	GUncertain significance
Select item 2098813	NM_198506.5(LRIT3):c.20_30del (p.Leu7fs)	LRIT3 (L7fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1129667	NM_198506.5(LRIT3):c.19C>T (p.Leu7=)	LRIT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2004703	NM_198506.5(LRIT3):c.21G>C (p.Leu7=)	LRIT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 347180	NM_198506.5(LRIT3):c.30C>A (p.Val10=)	LRIT3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2201253	NM_198506.5(LRIT3):c.47G>A (p.Gly16Glu)	LRIT3 (G16E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 972114	NM_198506.5(LRIT3):c.47G>T (p.Gly16Val)	LRIT3 (G16V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1922723	NM_198506.5(LRIT3):c.51G>C (p.Val17=)	LRIT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 841947	NM_198506.5(LRIT3):c.53G>A (p.Gly18Asp)	LRIT3 (G18D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1803094	NM_198506.5(LRIT3):c.59_61del (p.Leu20del)	LRIT3 (L20del)	Deletion (inframe_deletion)	Stargardt disease	GPathogenic
Select item 1565181	NM_198506.5(LRIT3):c.63T>C (p.Cys21=)	LRIT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1084695	NM_198506.5(LRIT3):c.75C>T (p.Cys25=)	LRIT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1519319	NM_198506.5(LRIT3):c.91G>A (p.Gly31Ser)	LRIT3 (G31S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 900732	NM_198506.5(LRIT3):c.99T>C (p.Asn33=)	LRIT3	Single nucleotide variant (synonymous variant)	Congenital stationary night blindness 1F +1 more	GConflicting classifications of pathogenicity
Select item 1093721	NM_198506.5(LRIT3):c.102C>T (p.Asp34=)	LRIT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2171428	NM_198506.5(LRIT3):c.103G>A (p.Gly35Ser)	LRIT3 (G35S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1528658	NM_198506.5(LRIT3):c.114A>C (p.Ser38=)	LRIT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 948174	NM_198506.5(LRIT3):c.116+4T>C	LRIT3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1949145	NM_198506.5(LRIT3):c.116+6C>T	LRIT3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1618816	NM_198506.5(LRIT3):c.116+8C>T	LRIT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2096226	NM_198506.5(LRIT3):c.116+20A>G	LRIT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1571522	NM_198506.5(LRIT3):c.117-13G>C	LRIT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2706114	NM_198506.5(LRIT3):c.117-9T>C	LRIT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1503200	NM_198506.5(LRIT3):c.117G>A (p.Arg39=)	LRIT3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1942949	NM_198506.5(LRIT3):c.126A>G (p.Leu42=)	LRIT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1572390	NM_198506.5(LRIT3):c.135C>T (p.Asp45=)	LRIT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1036614	NM_198506.5(LRIT3):c.135_136delinsTT (p.Met46Leu)	LRIT3 (M46L)	Indel (missense variant)	not provided	GUncertain significance
Select item 450894	NM_198506.5(LRIT3):c.136A>G (p.Met46Val)	LRIT3 (M46V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1034444	NM_198506.5(LRIT3):c.137T>C (p.Met46Thr)	LRIT3 (M46T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1162118	NM_198506.5(LRIT3):c.147C>T (p.Asn49=)	LRIT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1986191	NM_198506.5(LRIT3):c.153G>C (p.Leu51=)	LRIT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2459119	NM_198506.5(LRIT3):c.157A>G (p.Thr53Ala)	LRIT3 (T53A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1504730	NM_198506.5(LRIT3):c.158C>A (p.Thr53Lys)	LRIT3 (T53K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 900733	NM_198506.5(LRIT3):c.158C>T (p.Thr53Met)	LRIT3 (T53M)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1F +1 more	GBenign
Select item 1366523	NM_198506.5(LRIT3):c.161A>G (p.Asn54Ser)	LRIT3 (N54S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 347181	NM_198506.5(LRIT3):c.168C>T (p.Pro56=)	LRIT3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1483444	NM_198506.5(LRIT3):c.169G>A (p.Val57Met)	LRIT3 (V57M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1017621	NM_198506.5(LRIT3):c.169G>C (p.Val57Leu)	LRIT3 (V57L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2997267	NM_198506.5(LRIT3):c.177T>C (p.Thr59=)	LRIT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2071346	NM_198506.5(LRIT3):c.200C>T (p.Thr67Ile)	LRIT3 (T67I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1134062	NM_198506.5(LRIT3):c.208C>T (p.Arg70Cys)	LRIT3 (R70C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1362046	NM_198506.5(LRIT3):c.209G>A (p.Arg70His)	LRIT3 (R70H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1034955	NM_198506.5(LRIT3):c.221C>T (p.Ala74Val)	LRIT3 (A74V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 737160	NM_198506.5(LRIT3):c.222G>A (p.Ala74=)	LRIT3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1462266	NM_198506.5(LRIT3):c.223G>A (p.Glu75Lys)	LRIT3 (E75K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 943838	NM_198506.5(LRIT3):c.227C>T (p.Ala76Val)	LRIT3 (A76V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1471762	NM_198506.5(LRIT3):c.232T>G (p.Tyr78Asp)	LRIT3 (Y78D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1953719	NM_198506.5(LRIT3):c.233A>G (p.Tyr78Cys)	LRIT3 (Y78C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2116056	NM_198506.5(LRIT3):c.235_236insC (p.Tyr79fs)	LRIT3 (Y79fs)	Insertion (frameshift variant)	not provided	GUncertain significance
Select item 1160744	NM_198506.5(LRIT3):c.242T>C (p.Val81Ala)	LRIT3 (V81A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2806314	NM_198506.5(LRIT3):c.246G>A (p.Glu82=)	LRIT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 967419	NM_198506.5(LRIT3):c.251A>G (p.Gln84Arg)	LRIT3 (Q84R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2079489	NM_198506.5(LRIT3):c.252G>A (p.Gln84=)	LRIT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1011613	NM_198506.5(LRIT3):c.259T>C (p.Trp87Arg)	LRIT3 (W87R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3381802	NM_198506.5(LRIT3):c.269dup (p.Tyr90Ter)	LRIT3 (Y90*)	Duplication (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 936604	NM_198506.5(LRIT3):c.272A>G (p.Asn91Ser)	LRIT3 (N91S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1140791	NM_198506.5(LRIT3):c.276C>T (p.Ser92=)	LRIT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 954446	NM_198506.5(LRIT3):c.277G>T (p.Val93Leu)	LRIT3 (V93L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 522325	NM_198506.5(LRIT3):c.277G>A (p.Val93Met)	LRIT3 (V93M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2031034	NM_198506.5(LRIT3):c.279G>A (p.Val93=)	LRIT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1475808	NM_198506.5(LRIT3):c.280G>A (p.Ala94Thr)	LRIT3 (A94T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 837064	NM_198506.5(LRIT3):c.286A>G (p.Ile96Val)	LRIT3 (I96V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 949277	NM_198506.5(LRIT3):c.301T>C (p.Phe101Leu)	LRIT3 (F101L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1096631	NM_198506.5(LRIT3):c.312G>A (p.Leu104=)	LRIT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2107088	NM_198506.5(LRIT3):c.315_316delinsAT (p.Gln106Ter)	LRIT3 (Q106*)	Indel (nonsense)	not provided	GUncertain significance
Select item 2331797	NM_198506.5(LRIT3):c.323A>G (p.His108Arg)	LRIT3 (H108R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 902556	NM_198506.5(LRIT3):c.327G>A (p.Glu109=)	LRIT3	Single nucleotide variant (synonymous variant)	Congenital stationary night blindness 1F +1 more	GConflicting classifications of pathogenicity
Select item 2036377	NM_198506.5(LRIT3):c.330G>A (p.Leu110=)	LRIT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1169801	NM_198506.5(LRIT3):c.331C>T (p.Arg111Cys)	LRIT3 (R111C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 195438	NM_198506.5(LRIT3):c.331C>G (p.Arg111Gly)	LRIT3 (R111G)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 902557	NM_198506.5(LRIT3):c.332G>A (p.Arg111His)	LRIT3 (R111H)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1F +1 more	GUncertain significance
Select item 1046719	NM_198506.5(LRIT3):c.342del (p.Asn115fs)	LRIT3 (N115fs)	Deletion (frameshift variant)	Congenital stationary night blindness 1F +1 more	GUncertain significance
Select item 1015997	NM_198506.5(LRIT3):c.345T>A (p.Asn115Lys)	LRIT3 (N115K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2866686	NM_198506.5(LRIT3):c.349C>T (p.Leu117=)	LRIT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1026911	NM_198506.5(LRIT3):c.352G>A (p.Ala118Thr)	LRIT3 (A118T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2879856	NM_198506.5(LRIT3):c.357T>C (p.Ala119=)	LRIT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 847530	NM_198506.5(LRIT3):c.365G>A (p.Trp122Ter)	LRIT3 (W122*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1957660	NM_198506.5(LRIT3):c.378G>C (p.Leu126=)	LRIT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 195436	NM_198506.5(LRIT3):c.379G>T (p.Asp127Tyr)	LRIT3 (D127Y)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1055633	NM_198506.5(LRIT3):c.382A>G (p.Met128Val)	LRIT3 (M128V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1024052	NM_198506.5(LRIT3):c.383T>G (p.Met128Arg)	LRIT3 (M128R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1008763	NM_198506.5(LRIT3):c.383T>C (p.Met128Thr)	LRIT3 (M128T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2030325	NM_198506.5(LRIT3):c.402G>T (p.Leu134=)	LRIT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 728146	NM_198506.5(LRIT3):c.404A>T (p.Asp135Val)	LRIT3 (D135V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2022122	NM_198506.5(LRIT3):c.414T>C (p.Asn138=)	LRIT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1150564	NM_198506.5(LRIT3):c.432G>A (p.Val144=)	LRIT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1018380	NM_198506.5(LRIT3):c.443C>T (p.Ala148Val)	LRIT3 (A148V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1120455	NM_198506.5(LRIT3):c.444G>A (p.Ala148=)	LRIT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1549792	NM_198506.5(LRIT3):c.447C>G (p.Leu149=)	LRIT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1449029	NM_198506.5(LRIT3):c.451T>C (p.Tyr151His)	LRIT3 (Y151H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1057826	NM_198506.5(LRIT3):c.452A>G (p.Tyr151Cys)	LRIT3 (Y151C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1380118	NM_198506.5(LRIT3):c.469T>C (p.Tyr157His)	LRIT3 (Y157H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1368642	NM_198506.5(LRIT3):c.470A>G (p.Tyr157Cys)	LRIT3 (Y157C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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