26058[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	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC110120629, LOC110120691 +986 more	Copy number gain	See cases	GPathogenic
Select item 58847	GRCh38/hg38 2q36.3-37.3(chr2:226978129-236886599)x1	ACKR3, AGAP1 +393 more	Copy number loss	See cases	GPathogenic
Select item 58848	GRCh38/hg38 2q36.3-37.2(chr2:227343278-235339168)x1	CCL20, CHRND +347 more	Copy number loss	See cases	GPathogenic
Select item 59173	GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3	LOC129935966, LOC129935967 +630 more	Copy number gain	See cases	GPathogenic
Select item 147843	GRCh38/hg38 2q36.3-37.2(chr2:228014149-234976424)x3	LOC126806558, LOC126806559 +309 more	Copy number gain	See cases	GPathogenic
Select item 144756	GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3	LOC132088828, LOC132088829 +576 more	Copy number gain	See cases	GPathogenic
Select item 161051	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	LOC129935965, LOC129935966 +455 more	Copy number loss	See cases	GPathogenic
Select item 34724	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	ACKR3, AGAP1 +455 more	Copy number loss	See cases	GPathogenic
Select item 1257999	NM_001103146.3(GIGYF2):c.-43-221C>T	GIGYF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246966	NM_001103146.3(GIGYF2):c.-4A>C	GIGYF2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 3281380	NM_001103146.3(GIGYF2):c.14C>T (p.Thr5Met)	GIGYF2 (T5M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1183659	NM_001103146.3(GIGYF2):c.42-333A>G	GIGYF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289767	NM_001103146.3(GIGYF2):c.42-284G>T	GIGYF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2390099	NM_001103146.3(GIGYF2):c.70A>G (p.Ile24Val)	GIGYF2 (I24V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3050052	NM_001103146.3(GIGYF2):c.73A>G (p.Thr25Ala)	GIGYF2 (T25A)	Single nucleotide variant (missense variant +1 more)	GIGYF2-related disorder	GLikely benign
Select item 3042568	NM_001103146.3(GIGYF2):c.129C>T (p.Tyr43=)	GIGYF2	Single nucleotide variant (synonymous variant +1 more)	GIGYF2-related disorder	GLikely benign
Select item 3058521	NM_001103146.3(GIGYF2):c.162A>G (p.Lys54=)	GIGYF2	Single nucleotide variant (synonymous variant +1 more)	GIGYF2-related disorder	GLikely benign
Select item 753	NM_001103146.3(GIGYF2):c.167A>G (p.Asn56Ser)	GIGYF2 (N56S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2635532	NM_001103146.3(GIGYF2):c.171+4A>G	GIGYF2	Single nucleotide variant (intron variant)	GIGYF2-related disorder	GUncertain significance
Select item 1232643	NM_001103146.3(GIGYF2):c.171+103C>T	GIGYF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222110	NM_001103146.3(GIGYF2):c.171+129C>A	GIGYF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225102	NM_001103146.3(GIGYF2):c.171+202C>T	GIGYF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2552307	NM_001103146.3(GIGYF2):c.181G>T (p.Asp61Tyr)	GIGYF2 (D61Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1698255	NM_001103146.3(GIGYF2):c.191A>G (p.Asp64Gly)	GIGYF2 (D64G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3033809	NM_001103146.3(GIGYF2):c.241C>T (p.Leu81=)	GIGYF2	Single nucleotide variant (synonymous variant +1 more)	GIGYF2-related disorder	GLikely benign
Select item 3099794	NM_001103146.3(GIGYF2):c.250T>C (p.Phe84Leu)	GIGYF2 (F84L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3044764	NM_001103146.3(GIGYF2):c.268-11_268-6del	GIGYF2	Deletion (intron variant)	GIGYF2-related disorder	GLikely benign
Select item 3099796	NM_001103146.3(GIGYF2):c.349C>T (p.Pro117Ser)	GIGYF2 (P117S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1248194	NM_001103146.3(GIGYF2):c.379+247A>G	GIGYF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 335029	NM_002242.4(KCNJ13):c.*2324C>T	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16 +1 more	GUncertain significance
Select item 898161	NM_002242.4(KCNJ13):c.*2225G>A	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GLikely benign
Select item 898162	NM_002242.4(KCNJ13):c.*2153G>A	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 899261	NM_002242.4(KCNJ13):c.*2007T>G	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 335030	NM_002242.4(KCNJ13):c.*1881T>A	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 335031	NM_002242.4(KCNJ13):c.*1867T>C	KCNJ13, GIGYF2	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 335032	NM_002242.4(KCNJ13):c.*1839A>G	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GBenign
Select item 335033	NM_002242.4(KCNJ13):c.*1804G>A	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 335034	NM_002242.4(KCNJ13):c.*1758T>A	KCNJ13, GIGYF2	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 899262	NM_002242.4(KCNJ13):c.*1757A>T	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 335035	NM_002242.4(KCNJ13):c.*1742dup	GIGYF2, KCNJ13	Duplication (3 prime UTR variant +1 more)	Leber congenital amaurosis	GUncertain significance
Select item 899263	NM_002242.4(KCNJ13):c.*1718T>C	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 895166	NM_002242.4(KCNJ13):c.*1635T>C	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 895167	NM_002242.4(KCNJ13):c.*1553T>G	KCNJ13, GIGYF2	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 335036	NM_002242.4(KCNJ13):c.*1500G>A	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 335037	NM_002242.4(KCNJ13):c.1482_1484del	KCNJ13, GIGYF2	Deletion (3 prime UTR variant +1 more)	Leber congenital amaurosis	GUncertain significance
Select item 335038	NM_002242.4(KCNJ13):c.*1201C>T	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16 +1 more	GConflicting classifications of pathogenicity
Select item 895168	NM_002242.4(KCNJ13):c.*1195G>T	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 895169	NM_002242.4(KCNJ13):c.*1159T>C	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 335039	NM_002242.4(KCNJ13):c.*1088T>C	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 335040	NM_002242.4(KCNJ13):c.*957A>G	KCNJ13, GIGYF2	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 896585	NM_002242.4(KCNJ13):c.*856A>G	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 896586	NM_002242.4(KCNJ13):c.*784T>C	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 335041	NM_002242.4(KCNJ13):c.*761C>T	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GLikely benign
Select item 335042	NM_002242.4(KCNJ13):c.*692T>C	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 896587	NM_002242.4(KCNJ13):c.*620G>A	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 335043	NM_002242.4(KCNJ13):c.*619C>T	KCNJ13, GIGYF2	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 896588	NM_002242.4(KCNJ13):c.*615C>T	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 896589	NM_002242.4(KCNJ13):c.*467A>C	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 335044	NM_002242.4(KCNJ13):c.*371T>C	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 335045	NM_002242.4(KCNJ13):c.*342A>G	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 898214	NM_002242.4(KCNJ13):c.*326A>G	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 335046	NM_002242.4(KCNJ13):c.*290T>C	KCNJ13, GIGYF2	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 335047	NM_002242.4(KCNJ13):c.*256G>A	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 335048	NM_002242.4(KCNJ13):c.*179CT[1]	GIGYF2, KCNJ13	Microsatellite (3 prime UTR variant +1 more)	Leber congenital amaurosis	GUncertain significance
Select item 335049	NM_002242.4(KCNJ13):c.*135A>G	KCNJ13, GIGYF2	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GBenign
Select item 335050	NM_002242.4(KCNJ13):c.*121A>G	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 335051	NM_002242.4(KCNJ13):c.*102T>G	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 335052	NM_002242.4(KCNJ13):c.*94A>C	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +1 more)	Leber congenital amaurosis 16	GUncertain significance
Select item 899319	NM_002242.4(KCNJ13):c.*68T>C	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 (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2849108	NM_002242.4(KCNJ13):c.1044T>C (p.Ile348=)	GIGYF2, KCNJ13	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1040258	NM_002242.4(KCNJ13):c.1043T>C (p.Ile348Thr)	GIGYF2, KCNJ13 (I348T +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified +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 (3 prime UTR 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 (3 prime UTR 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 3287641	NM_002242.4(KCNJ13):c.998G>A (p.Ser333Asn)	GIGYF2, KCNJ13 (S253N +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
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 +1 more	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

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