3769[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	LOC129935343, LOC129935344 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935480, LOC129935481 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	LOC129935841, LOC129935842 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC129935871, LOC129935872 +986 more	Copy number gain	See cases	GPathogenic
Select item 58847	GRCh38/hg38 2q36.3-37.3(chr2:226978129-236886599)x1	LOC126806566, LOC126806567 +393 more	Copy number loss	See cases	GPathogenic
Select item 58848	GRCh38/hg38 2q36.3-37.2(chr2:227343278-235339168)x1	AGFG1, ALPG +347 more	Copy number loss	See cases	GPathogenic
Select item 59173	GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3	ACKR3, AGAP1 +630 more	Copy number gain	See cases	GPathogenic
Select item 147843	GRCh38/hg38 2q36.3-37.2(chr2:228014149-234976424)x3	ALPG, ALPI +309 more	Copy number gain	See cases	GPathogenic
Select item 144756	GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3	LOC129935973, LOC129935974 +576 more	Copy number gain	See cases	GPathogenic
Select item 161051	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	ACKR3, AGAP1 +455 more	Copy number loss	See cases	GPathogenic
Select item 34724	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	LOC129935973, LOC129935974 +455 more	Copy number loss	See cases	GPathogenic
Select item 335029	NM_001103146.3(GIGYF2):c.532+4431G>A	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 898161	NM_001103146.3(GIGYF2):c.532+4530C>T	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GLikely benign
Select item 898162	NM_001103146.3(GIGYF2):c.532+4602C>T	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 899261	NM_001103146.3(GIGYF2):c.532+4748A>C	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 335030	NM_001103146.3(GIGYF2):c.532+4874A>T	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 335031	NM_001103146.3(GIGYF2):c.532+4888A>G	KCNJ13, GIGYF2	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 335032	NM_001103146.3(GIGYF2):c.532+4916T>C	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GBenign
Select item 335033	NM_001103146.3(GIGYF2):c.532+4951C>T	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 335034	NM_001103146.3(GIGYF2):c.532+4997A>T	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 899262	NM_001103146.3(GIGYF2):c.532+4998T>A	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 335035	NM_001103146.3(GIGYF2):c.532+5018dup	GIGYF2, KCNJ13	Duplication (3 prime UTR variant +1 more)	Leber congenital amaurosis	GUncertain significance
Select item 899263	NM_001103146.3(GIGYF2):c.532+5037A>G	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 895166	NM_001103146.3(GIGYF2):c.532+5120A>G	KCNJ13, GIGYF2	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 895167	NM_001103146.3(GIGYF2):c.532+5202A>C	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 335036	NM_001103146.3(GIGYF2):c.532+5255C>T	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 335037	NM_001103146.3(GIGYF2):c.532+5271_532+5273del	KCNJ13, GIGYF2	Deletion (3 prime UTR variant +1 more)	Leber congenital amaurosis	GUncertain significance
Select item 335038	NM_001103146.3(GIGYF2):c.532+5554G>A	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 895168	NM_001103146.3(GIGYF2):c.532+5560C>A	KCNJ13, GIGYF2	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 895169	NM_001103146.3(GIGYF2):c.532+5596A>G	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 335039	NM_001103146.3(GIGYF2):c.532+5667A>G	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 335040	NM_001103146.3(GIGYF2):c.532+5798T>C	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 896585	NM_001103146.3(GIGYF2):c.532+5899T>C	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 896586	NM_001103146.3(GIGYF2):c.532+5971A>G	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 335041	NM_001103146.3(GIGYF2):c.532+5994G>A	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GLikely benign
Select item 335042	NM_001103146.3(GIGYF2):c.532+6063A>G	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 896587	NM_001103146.3(GIGYF2):c.532+6135C>T	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 335043	NM_001103146.3(GIGYF2):c.532+6136G>A	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 896588	NM_001103146.3(GIGYF2):c.532+6140G>A	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 896589	NM_001103146.3(GIGYF2):c.532+6288T>G	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 335044	NM_001103146.3(GIGYF2):c.532+6384A>G	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 335045	NM_001103146.3(GIGYF2):c.532+6413T>C	KCNJ13, GIGYF2	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 898214	NM_001103146.3(GIGYF2):c.532+6429T>C	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 335046	NM_001103146.3(GIGYF2):c.532+6465A>G	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 335047	NM_001103146.3(GIGYF2):c.532+6499C>T	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 335048	NM_001103146.3(GIGYF2):c.532+6575_532+6576del	KCNJ13, GIGYF2	Microsatellite (3 prime UTR variant +1 more)	Leber congenital amaurosis	GUncertain significance
Select item 335049	NM_001103146.3(GIGYF2):c.532+6620T>C	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GBenign
Select item 335050	NM_001103146.3(GIGYF2):c.532+6634T>C	GIGYF2, KCNJ13	Single nucleotide variant (intron variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 335051	NM_001103146.3(GIGYF2):c.532+6653A>C	KCNJ13, GIGYF2	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 335052	NM_001103146.3(GIGYF2):c.532+6661T>G	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 899319	NM_001103146.3(GIGYF2):c.532+6687A>G	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 2196548	NM_002242.4(KCNJ13):c.1081T>C (p.Ter361Gln)	GIGYF2, KCNJ13	Single nucleotide variant (intron variant +2 more)	not provided	GUncertain significance
Select item 2849108	NM_002242.4(KCNJ13):c.1044T>C (p.Ile348=)	GIGYF2, KCNJ13	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1040258	NM_002242.4(KCNJ13):c.1043T>C (p.Ile348Thr)	KCNJ13, GIGYF2 (I348T +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 1611613	NM_002242.4(KCNJ13):c.1041C>T (p.Ser347=)	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2155423	NM_002242.4(KCNJ13):c.1032T>C (p.Asn344=)	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2200249	NM_002242.4(KCNJ13):c.1020T>C (p.Asp340=)	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1544193	NM_002242.4(KCNJ13):c.1011T>G (p.Thr337=)	GIGYF2, KCNJ13	Single nucleotide variant (intron variant +2 more)	not provided	GLikely benign
Select item 1015818	NM_002242.4(KCNJ13):c.1010C>T (p.Thr337Ile)	GIGYF2, KCNJ13 (T257I +1 more)	Single nucleotide variant (intron variant +2 more)	not provided	GUncertain significance
Select item 2880516	NM_002242.4(KCNJ13):c.1002A>C (p.Pro334=)	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1013931	NM_002242.4(KCNJ13):c.979A>G (p.Thr327Ala)	GIGYF2, KCNJ13 (T247A +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1721792	NM_002242.4(KCNJ13):c.977C>T (p.Pro326Leu)	GIGYF2, KCNJ13 (P246L +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1370456	NM_002242.4(KCNJ13):c.970G>T (p.Glu324Ter)	GIGYF2, KCNJ13 (E324* +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1025652	NM_002242.4(KCNJ13):c.965T>C (p.Val322Ala)	GIGYF2, KCNJ13 (V242A +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1476036	NM_002242.4(KCNJ13):c.961A>G (p.Thr321Ala)	GIGYF2, KCNJ13 (T241A +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 809186	NM_002242.4(KCNJ13):c.930A>G (p.Glu310=)	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2163872	NM_002242.4(KCNJ13):c.921C>T (p.Ser307=)	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2652009	NM_002242.4(KCNJ13):c.914G>A (p.Arg305Gln)	GIGYF2, KCNJ13 (R225Q +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1010073	NM_002242.4(KCNJ13):c.913C>T (p.Arg305Ter)	GIGYF2, KCNJ13 (R225* +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1718851	NM_002242.4(KCNJ13):c.908T>G (p.Leu303Trp)	GIGYF2, KCNJ13 (L223W +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2420443	NM_002242.4(KCNJ13):c.907T>C (p.Leu303=)	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1576180	NM_002242.4(KCNJ13):c.906G>A (p.Leu302=)	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 844853	NM_002242.4(KCNJ13):c.905T>C (p.Leu302Pro)	GIGYF2, KCNJ13 (L222P +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1135701	NM_002242.4(KCNJ13):c.904C>T (p.Leu302=)	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1380434	NM_002242.4(KCNJ13):c.892T>C (p.Cys298Arg)	GIGYF2, KCNJ13 (C218R +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 899320	NM_002242.4(KCNJ13):c.870G>A (p.Pro290=)	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1420710	NM_002242.4(KCNJ13):c.869C>T (p.Pro290Leu)	KCNJ13, GIGYF2 (P290L +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1012688	NM_002242.4(KCNJ13):c.866T>C (p.Leu289Pro)	GIGYF2, KCNJ13 (L209P +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2111478	NM_002242.4(KCNJ13):c.860C>G (p.Ser287Cys)	GIGYF2, KCNJ13 (S287C +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 1593287	NM_002242.4(KCNJ13):c.845G>A (p.Cys282Tyr)	GIGYF2, KCNJ13 (C202Y +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1388941	NM_002242.4(KCNJ13):c.838G>A (p.Glu280Lys)	GIGYF2, KCNJ13 (E280K +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1169670	NM_002242.4(KCNJ13):c.827A>C (p.Glu276Ala)	GIGYF2, KCNJ13 (E196A +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 1425257	NM_002242.4(KCNJ13):c.821T>C (p.Met274Thr)	GIGYF2, KCNJ13 (M194T +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1146452	NM_002242.4(KCNJ13):c.807A>G (p.Val269=)	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1023971	NM_002242.4(KCNJ13):c.803T>C (p.Val268Ala)	GIGYF2, KCNJ13 (V188A +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified +1 more	GUncertain significance
Select item 3000740	NM_002242.4(KCNJ13):c.796G>T (p.Glu266Ter)	GIGYF2, KCNJ13 (E186* +1 more)	Single nucleotide variant (intron variant +2 more)	not provided	GUncertain significance
Select item 2821344	NM_002242.4(KCNJ13):c.794T>A (p.Phe265Tyr)	GIGYF2, KCNJ13 (F185Y +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2070772	NM_002242.4(KCNJ13):c.794T>C (p.Phe265Ser)	GIGYF2, KCNJ13 (F185S +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 971274	NM_002242.4(KCNJ13):c.781A>C (p.Asn261His)	GIGYF2, KCNJ13 (N261H +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1061605	NM_002242.4(KCNJ13):c.779A>G (p.Glu260Gly)	GIGYF2, KCNJ13 (E180G +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified +1 more	GUncertain significance
Select item 1714169	NM_002242.4(KCNJ13):c.778G>A (p.Glu260Lys)	GIGYF2, KCNJ13 (E180K +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2557117	NM_002242.4(KCNJ13):c.775C>G (p.His259Asp)	GIGYF2, KCNJ13 (H179D +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1495910	NM_002242.4(KCNJ13):c.774G>C (p.Gln258His)	GIGYF2, KCNJ13 (Q258H +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1722169	NM_002242.4(KCNJ13):c.769C>T (p.Leu257Phe)	GIGYF2, KCNJ13 (L177F +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2759029	NM_002242.4(KCNJ13):c.768G>C (p.Leu256=)	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2022617	NM_002242.4(KCNJ13):c.758T>G (p.Leu253Arg)	GIGYF2, KCNJ13 (L173R +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1523701	NM_002242.4(KCNJ13):c.745C>T (p.Pro249Ser)	GIGYF2, KCNJ13 (P249S +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1470553	NM_002242.4(KCNJ13):c.731A>T (p.Tyr244Phe)	GIGYF2, KCNJ13 (Y244F +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance

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