343035[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC129388734, LOC129388735 +723 more	Copy number gain	See cases	GPathogenic
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 295220	NM_001164688.2(RD3):c.*2503G>T	RD3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 295221	NM_001164688.2(RD3):c.*2481A>T	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 875565	NM_001164688.2(RD3):c.*2464C>T	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 875566	NM_001164688.2(RD3):c.*2451A>C	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 295222	NM_001164688.2(RD3):c.*2402A>G	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 875567	NM_001164688.2(RD3):c.*2330C>T	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 295223	NM_001164688.2(RD3):c.*2317G>A	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 295224	NM_001164688.2(RD3):c.*2311C>T	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 875568	NM_001164688.2(RD3):c.*2247A>T	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 295225	NM_001164688.2(RD3):c.*2138T>C	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 295226	NM_001164688.2(RD3):c.*2098G>A	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 295227	NM_001164688.2(RD3):c.*2081C>T	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 876564	NM_001164688.2(RD3):c.*2007G>A	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 295228	NM_001164688.2(RD3):c.*1983C>T	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
Select item 295229	NM_001164688.2(RD3):c.*1672C>T	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 295230	NM_001164688.2(RD3):c.*1652C>T	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 295231	NM_001164688.2(RD3):c.*1649T>C	RD3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 295232	NM_001164688.2(RD3):c.*1634G>A	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 295234	NM_001164688.2(RD3):c.*1582dup	RD3	Duplication (3 prime UTR variant)	Leber congenital amaurosis	GUncertain significance
Select item 295233	NM_001164688.2(RD3):c.*1583del	RD3	Deletion (3 prime UTR variant)	Leber congenital amaurosis	GUncertain significance
Select item 295235	NM_001164688.2(RD3):c.*1582del	RD3	Deletion (3 prime UTR variant)	Leber congenital amaurosis +1 more	GUncertain significance
Select item 295236	NM_001164688.2(RD3):c.*1555T>C	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 873703	NM_001164688.2(RD3):c.*1553C>T	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 295237	NM_001164688.2(RD3):c.*1343G>C	RD3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 295238	NM_001164688.2(RD3):c.*1342T>G	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 295239	NM_001164688.2(RD3):c.*1331G>A	RD3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 873704	NM_001164688.2(RD3):c.*1323G>A	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 873705	NM_001164688.2(RD3):c.*1310G>A	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 295240	NM_001164688.2(RD3):c.1307_1308insCT	RD3	Insertion (3 prime UTR variant)	Leber congenital amaurosis	GLikely benign
Select item 295241	NM_001164688.2(RD3):c.*1305del	RD3	Deletion (3 prime UTR variant)	Leber congenital amaurosis	GUncertain significance
Select item 295242	NM_001164688.2(RD3):c.*1287T>C	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 295243	NM_001164688.2(RD3):c.*1281G>A	RD3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 295244	NM_001164688.2(RD3):c.*1277G>A	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12 +1 more	GUncertain significance
Select item 295245	NM_001164688.2(RD3):c.*1108C>T	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 874675	NM_001164688.2(RD3):c.*1039T>A	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GLikely benign
Select item 874676	NM_001164688.2(RD3):c.*1005C>G	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 295246	NM_001164688.2(RD3):c.*882C>T	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 875617	NM_001164688.2(RD3):c.*834G>A	RD3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 874677	NM_001164688.2(RD3):c.*834G>T	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GLikely benign
Select item 875618	NM_001164688.2(RD3):c.*814C>A	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 295247	NM_001164688.2(RD3):c.*738T>C	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 875619	NM_001164688.2(RD3):c.*592C>A	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 875620	NM_001164688.2(RD3):c.*591T>A	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 295248	NM_001164688.2(RD3):c.*590T>C	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 295249	NM_001164688.2(RD3):c.*527G>C	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 295250	NM_001164688.2(RD3):c.*471C>T	RD3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 295251	NM_001164688.2(RD3):c.*368A>T	RD3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
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 876618	NM_001164688.2(RD3):c.*263T>G	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 295252	NM_001164688.2(RD3):c.*193G>C	RD3	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 12 +1 more	GBenign
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 1501944	NM_001164688.2(RD3):c.587G>C (p.Ter196Ser)	RD3	Single nucleotide variant (stop lost)	Leber congenital amaurosis 12	GUncertain significance
Select item 445480	NM_001164688.2(RD3):c.584A>T (p.Asp195Val)	RD3 (D195V)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 811120	NM_001164688.2(RD3):c.583G>T (p.Asp195Tyr)	RD3 (D195Y)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 12	GUncertain significance
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 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 2157646	NM_001164688.2(RD3):c.568C>A (p.Arg190=)	RD3	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 12	GLikely benign
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 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 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 295253	NM_001164688.2(RD3):c.545G>A (p.Arg182Gln)	RD3 (R182Q)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 12	GUncertain significance
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 1631760	NM_001164688.2(RD3):c.537G>T (p.Pro179=)	RD3	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 12	GLikely benign
Select item 295254	NM_001164688.2(RD3):c.527A>G (p.Asp176Gly)	RD3 (D176G)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 772783	NM_001164688.2(RD3):c.519G>A (p.Val173=)	RD3	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 12	GConflicting classifications of pathogenicity
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 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 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 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 707391	NM_001164688.2(RD3):c.500G>A (p.Arg167Lys)	RD3 (R167K)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 283917	NM_001164688.2(RD3):c.498C>T (p.Ile166=)	RD3	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 12 +1 more	GConflicting classifications of pathogenicity
Select item 767424	NM_001164688.2(RD3):c.494A>C (p.Asp165Ala)	RD3 (D165A)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 12	GConflicting classifications of pathogenicity
Select item 295255	NM_001164688.2(RD3):c.493G>A (p.Asp165Asn)	RD3 (D165N)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 12	GUncertain significance
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 2264849	NM_001164688.2(RD3):c.490A>G (p.Ser164Gly)	RD3 (S164G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 858743	NM_001164688.2(RD3):c.473G>T (p.Arg158Leu)	RD3 (R158L)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 12	GUncertain significance
Select item 295256	NM_001164688.2(RD3):c.468C>T (p.Arg156=)	RD3	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 12	GConflicting classifications of pathogenicity
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 1580430	NM_001164688.2(RD3):c.450G>A (p.Leu150=)	RD3	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 12	GLikely benign
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 2079716	NM_001164688.2(RD3):c.438C>T (p.Pro146=)	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 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 1159220	NM_001164688.2(RD3):c.417G>A (p.Thr139=)	RD3	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 12	GLikely benign
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 842065	NM_001164688.2(RD3):c.386T>A (p.Met129Lys)	RD3 (M129K)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 12	GUncertain significance
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 1564650	NM_001164688.2(RD3):c.369G>A (p.Gln123=)	RD3	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 12	GLikely benign
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 1353278	NM_001164688.2(RD3):c.365T>G (p.Leu122Arg)	RD3 (L122R)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 12	GUncertain significance

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