ClinVar for MedGen (Select 347535) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2980259	NM_001164688.2(RD3):c.233G>C (p.Arg78Pro)	RD3 (R78P)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 2911210	NM_001164688.2(RD3):c.360G>C (p.Ser120=)	RD3	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 12	GLikely benign
Select item 2864549	NM_001164688.2(RD3):c.516C>T (p.Asp172=)	RD3	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 12	GLikely benign
Select item 2831000	NM_001164688.2(RD3):c.296+9dup	RD3	Duplication (intron variant)	Leber congenital amaurosis 12	GLikely benign
Select item 2771595	NM_001164688.2(RD3):c.198A>G (p.Thr66=)	RD3	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 12	GLikely benign
Select item 2427618	NC_000001.10:g.(?_211652378)_(211654757_?)del	RD3	Deletion	Leber congenital amaurosis 12	GPathogenic
Select item 2199823	NM_001164688.2(RD3):c.149C>T (p.Ala50Val)	RD3 (A50V)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 2197983	NM_001164688.2(RD3):c.255C>T (p.Cys85=)	RD3	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 12	GLikely benign
Select item 2190875	NM_001164688.2(RD3):c.113G>A (p.Arg38Gln)	RD3 (R38Q)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 2180365	NM_001164688.2(RD3):c.53C>T (p.Thr18Ile)	RD3 (T18I)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 2173670	NM_001164688.2(RD3):c.360G>A (p.Ser120=)	RD3	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 2157646	NM_001164688.2(RD3):c.568C>A (p.Arg190=)	RD3	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 12	GLikely benign
Select item 2150906	NM_001164688.2(RD3):c.256G>A (p.Val86Ile)	RD3 (V86I)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 2149557	NM_001164688.2(RD3):c.87T>C (p.Leu29=)	RD3	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 12	GLikely benign
Select item 2125498	NM_001164688.2(RD3):c.83C>A (p.Thr28Lys)	RD3 (T28K)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 2114326	NM_001164688.2(RD3):c.483C>G (p.Pro161=)	RD3	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 12	GLikely benign
Select item 2110578	NM_001164688.2(RD3):c.381G>A (p.Glu127=)	RD3	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 12	GLikely benign
Select item 2106862	NM_001164688.2(RD3):c.238C>T (p.Gln80Ter)	RD3 (Q80*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 12	GPathogenic
Select item 2102584	NM_001164688.2(RD3):c.1A>G (p.Met1Val)	RD3 (M1V)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 12	GUncertain significance
Select item 2079716	NM_001164688.2(RD3):c.438C>T (p.Pro146=)	RD3	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 12	GLikely benign
Select item 2060971	NM_001164688.2(RD3):c.11T>C (p.Ile4Thr)	RD3 (I4T)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 2051591	NM_001164688.2(RD3):c.119C>T (p.Ala40Val)	RD3 (A40V)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 2049367	NM_001164688.2(RD3):c.216C>T (p.Asp72=)	RD3	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 12	GLikely benign
Select item 2022649	NM_001164688.2(RD3):c.141C>T (p.Arg47=)	RD3	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 12	GLikely benign
Select item 2019343	NM_001164688.2(RD3):c.264C>T (p.Ile88=)	RD3	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 12	GLikely benign
Select item 2012585	NM_001164688.2(RD3):c.481C>T (p.Pro161Ser)	RD3 (P161S)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 2010610	NM_001164688.2(RD3):c.296G>A (p.Arg99Lys)	RD3 (R99K)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 2003233	NM_001164688.2(RD3):c.38del (p.Pro13fs)	RD3 (P13fs)	Deletion (frameshift variant)	Leber congenital amaurosis 12	GPathogenic
Select item 1994497	NM_001164688.2(RD3):c.582C>T (p.Ala194=)	RD3	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 12	GLikely benign
Select item 1994178	NM_001164688.2(RD3):c.207C>G (p.Ser69=)	RD3	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 12	GLikely benign
Select item 1975801	NM_001164688.2(RD3):c.431T>A (p.Leu144Gln)	RD3 (L144Q)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 1950048	NM_001164688.2(RD3):c.511G>C (p.Glu171Gln)	RD3 (E171Q)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 1949139	NM_001164688.2(RD3):c.466_467delinsTT (p.Arg156Phe)	RD3 (R156F)	Indel (missense variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 1927548	NM_001164688.2(RD3):c.111G>A (p.Met37Ile)	RD3 (M37I)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 1918838	NM_001164688.2(RD3):c.333G>T (p.Val111=)	RD3	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 12	GLikely benign
Select item 1658119	NM_001164688.2(RD3):c.297-16C>T	RD3	Single nucleotide variant (intron variant)	Leber congenital amaurosis 12	GLikely benign
Select item 1631760	NM_001164688.2(RD3):c.537G>T (p.Pro179=)	RD3	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 12	GLikely benign
Select item 1580430	NM_001164688.2(RD3):c.450G>A (p.Leu150=)	RD3	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 12	GLikely benign
Select item 1578435	NM_001164688.2(RD3):c.231G>A (p.Glu77=)	RD3	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 12	GLikely benign
Select item 1564650	NM_001164688.2(RD3):c.369G>A (p.Gln123=)	RD3	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 12	GLikely benign
Select item 1546176	NM_001164688.2(RD3):c.97C>T (p.Leu33=)	RD3	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 12	GLikely benign
Select item 1531286	NM_001164688.2(RD3):c.30C>T (p.Asn10=)	RD3	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 12	GLikely benign
Select item 1516779	NM_001164688.2(RD3):c.149C>A (p.Ala50Glu)	RD3 (A50E)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 1512312	NM_001164688.2(RD3):c.297-3C>G	RD3	Single nucleotide variant (intron variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 1506094	NM_001164688.2(RD3):c.148G>A (p.Ala50Thr)	RD3 (A50T)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 1501944	NM_001164688.2(RD3):c.587G>C (p.Ter196Ser)	RD3	Single nucleotide variant (stop lost)	Leber congenital amaurosis 12	GUncertain significance
Select item 1492382	NM_001164688.2(RD3):c.160G>T (p.Val54Phe)	RD3 (V54F)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 1488062	NM_001164688.2(RD3):c.560C>A (p.Pro187His)	RD3 (P187H)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 1458859	NM_001164688.2(RD3):c.13_14del (p.Ser5fs)	RD3 (S5fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1438168	NM_001164688.2(RD3):c.169G>T (p.Gly57Cys)	RD3 (G57C)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 1438092	NM_001164688.2(RD3):c.2T>C (p.Met1Thr)	RD3 (M1T)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 12	GUncertain significance
Select item 1434987	NM_001164688.2(RD3):c.404C>T (p.Ala135Val)	RD3 (A135V)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 1430354	NM_001164688.2(RD3):c.169G>A (p.Gly57Ser)	RD3 (G57S)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 12 +1 more	GUncertain significance
Select item 1425041	NM_001164688.2(RD3):c.545G>T (p.Arg182Leu)	RD3 (R182L)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 1406305	NM_001164688.2(RD3):c.559C>G (p.Pro187Ala)	RD3 (P187A)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 1403723	NM_001164688.2(RD3):c.170G>T (p.Gly57Val)	RD3 (G57V)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 1394609	NM_001164688.2(RD3):c.23G>A (p.Arg8Gln)	RD3 (R8Q)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 1388540	NM_001164688.2(RD3):c.296+1G>T	RD3	Single nucleotide variant (splice donor variant)	Leber congenital amaurosis 12	GPathogenic
Select item 1381527	NM_001164688.2(RD3):c.446G>T (p.Ser149Ile)	RD3 (S149I)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 1370807	NM_001164688.2(RD3):c.206C>T (p.Ser69Phe)	RD3 (S69F)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 1367419	NM_001164688.2(RD3):c.577A>G (p.Lys193Glu)	RD3 (K193E)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 1356076	NM_001164688.2(RD3):c.61C>T (p.Pro21Ser)	RD3 (P21S)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 1353278	NM_001164688.2(RD3):c.365T>G (p.Leu122Arg)	RD3 (L122R)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 1351389	NM_001164688.2(RD3):c.61C>G (p.Pro21Ala)	RD3 (P21A)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 1169093	NM_001164688.2(RD3):c.296+18G>A	RD3	Single nucleotide variant (intron variant)	Leber congenital amaurosis 12	GBenign
Select item 1164296	NM_001164688.2(RD3):c.296+18del	RD3	Deletion (intron variant)	Leber congenital amaurosis 12	GBenign
Select item 1159220	NM_001164688.2(RD3):c.417G>A (p.Thr139=)	RD3	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 12	GLikely benign
Select item 1153586	NM_001164688.2(RD3):c.318G>A (p.Glu106=)	RD3	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 12	GLikely benign
Select item 1127861	NM_001164688.2(RD3):c.171T>G (p.Gly57=)	RD3	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 12	GLikely benign
Select item 1114884	NM_001164688.2(RD3):c.540A>G (p.Pro180=)	RD3	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 12	GLikely benign
Select item 1112321	NM_001164688.2(RD3):c.492C>T (p.Ser164=)	RD3	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 12	GLikely benign
Select item 1105868	NM_001164688.2(RD3):c.279T>C (p.Cys93=)	RD3	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 12	GLikely benign
Select item 1091404	NM_001164688.2(RD3):c.252C>T (p.Val84=)	RD3	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 12	GLikely benign
Select item 1091378	NM_001164688.2(RD3):c.433C>A (p.Arg145=)	RD3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1084959	NM_001164688.2(RD3):c.327C>T (p.Pro109=)	RD3	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 12	GLikely benign
Select item 1080914	NM_001164688.2(RD3):c.327C>G (p.Pro109=)	RD3	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 12	GLikely benign
Select item 1061663	NM_001164688.2(RD3):c.348G>T (p.Gln116His)	RD3 (Q116H)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 1060592	NM_001164688.2(RD3):c.284C>T (p.Pro95Leu)	RD3 (P95L)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 1054953	NM_001164688.2(RD3):c.101C>T (p.Thr34Met)	RD3 (T34M)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 1045675	NM_001164688.2(RD3):c.355C>T (p.Arg119Cys)	RD3 (R119C)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 1045353	NM_001164688.2(RD3):c.232C>T (p.Arg78Trp)	RD3 (R78W)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 1043566	NM_001164688.2(RD3):c.509C>T (p.Ser170Phe)	RD3 (S170F)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 12 +1 more	GUncertain significance
Select item 1042181	NM_001164688.2(RD3):c.43C>T (p.Arg15Trp)	RD3 (R15W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1042085	NM_001164688.2(RD3):c.20T>A (p.Leu7His)	RD3 (L7H)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 1036152	NM_001164688.2(RD3):c.203G>A (p.Arg68Gln)	RD3 (R68Q)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 1026526	NM_001164688.2(RD3):c.22C>T (p.Arg8Trp)	RD3 (R8W)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 1024198	NM_001164688.2(RD3):c.65C>A (p.Ala22Asp)	RD3 (A22D)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 1013705	NM_001164688.2(RD3):c.55A>T (p.Arg19Trp)	RD3 (R19W)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 1007256	NM_001164688.2(RD3):c.325C>T (p.Pro109Ser)	RD3 (P109S)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 1002125	NM_001164688.2(RD3):c.368A>T (p.Gln123Leu)	RD3 (Q123L)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 1000912	NM_001164688.2(RD3):c.31G>A (p.Glu11Lys)	RD3 (E11K)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 963438	NM_001164688.2(RD3):c.89T>A (p.Met30Lys)	RD3 (M30K)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 943425	NM_001164688.2(RD3):c.511G>A (p.Glu171Lys)	RD3 (E171K)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 935765	NM_001164688.2(RD3):c.140G>A (p.Arg47His)	RD3 (R47H)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 876661	NM_001164688.2(RD3):c.-296A>C	RD3	Single nucleotide variant (5 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 876620	NM_001164688.2(RD3):c.*44G>A	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 876619	NM_001164688.2(RD3):c.*213C>T	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 876618	NM_001164688.2(RD3):c.*263T>G	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 876617	NM_001164688.2(RD3):c.*330G>C	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 876565	NM_001164688.2(RD3):c.*1712G>A	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance

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