8842[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	LOC129992145, LOC129992146 +1209 more	Copy number gain	See cases	GPathogenic
Select item 147969	GRCh38/hg38 4p16.3-15.31(chr4:51519-17798196)x3	ABLIM2, ACOX3 +674 more	Copy number gain	See cases	GPathogenic
Select item 155646	GRCh38/hg38 4p16.3-15.31(chr4:68453-20385608)x1	LOC129992028, LOC129992029 +691 more	Copy number loss	See cases	GPathogenic
Select item 149255	GRCh38/hg38 4p16.3-15.31(chr4:72555-21022414)x3	LOC126806993, LOC126806994 +702 more	Copy number gain	See cases	GPathogenic
Select item 146353	GRCh38/hg38 4p16.3-15.32(chr4:72555-17278013)x1	ABLIM2, ACOX3 +657 more	Copy number loss	See cases	GPathogenic
Select item 144195	GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3	ABLIM2, ACOX3 +1039 more	Copy number gain	See cases	GPathogenic
Select item 58011	GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3	LOC129992237, LOC129992238 +861 more	Copy number gain	See cases	GPathogenic
Select item 57902	GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1	LOC129992157, LOC129992158 +832 more	Copy number loss	See cases	GPathogenic
Select item 58015	GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3	SOD3, SORCS2 +987 more	Copy number gain	See cases	GPathogenic
Select item 58013	GRCh38/hg38 4p16.3-15.2(chr4:85149-22450018)x3	ABLIM2, ACOX3 +716 more	Copy number gain	See cases	GPathogenic
Select item 57937	GRCh38/hg38 4p16.3-15.32(chr4:85149-17486742)x1	ABLIM2, ACOX3 +659 more	Copy number loss	See cases	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 153003	GRCh38/hg38 4p16.3-15.32(chr4:4426403-17460549)x1	ABLIM2, ACOX3 +365 more	Copy number loss	See cases	GPathogenic
Select item 626310	NC_000004.12:g.8398067_17505522inv	ACOX3, BOD1L1 +193 more	Inversion	Dihydropteridine reductase deficiency	GPathogenic
Select item 2445987	GRCh38/hg38 4p15.33-14(chr4:11399082-38137335)	FGFBP1, LOC126806998 +393 more	Copy number loss	4p partial monosomy syndrome	GPathogenic
Select item 57509	GRCh38/hg38 4p15.33-15.31(chr4:14061129-20121834)x1	BST1, C1QTNF7 +98 more	Copy number loss	See cases	GPathogenic
Select item 58026	GRCh38/hg38 4p15.33-15.31(chr4:14659764-18274924)x3	BST1, C1QTNF7 +84 more	Copy number gain	See cases	GPathogenic
Select item 150475	GRCh38/hg38 4p15.32(chr4:15796371-16062609)x1	CD38, FGFBP1 +3 more	Copy number loss	See cases	GLikely benign
Select item 152301	GRCh38/hg38 4p15.32(chr4:15868863-16925081)x1	FGFBP1, FGFBP2 +18 more	Copy number loss	See cases	GUncertain significance
Select item 347962	NM_006017.3(PROM1):c.*1160A>G	PROM1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +3 more	GUncertain significance
Select item 901959	NM_006017.3(PROM1):c.*1149A>G	PROM1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +3 more	GUncertain significance
Select item 902864	NM_006017.3(PROM1):c.*1143A>C	PROM1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +3 more	GUncertain significance
Select item 347963	NM_006017.3(PROM1):c.*1078A>G	PROM1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +3 more	GBenign
Select item 347964	NM_006017.3(PROM1):c.*1070A>G	PROM1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +3 more	GUncertain significance
Select item 347965	NM_006017.3(PROM1):c.*1052G>A	PROM1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +3 more	GConflicting classifications of pathogenicity
Select item 901462	NM_006017.3(PROM1):c.*985C>G	PROM1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +3 more	GUncertain significance
Select item 347966	NM_006017.3(PROM1):c.*963A>G	PROM1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +3 more	GUncertain significance
Select item 900368	NM_006017.3(PROM1):c.*781G>A	PROM1	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 12 +3 more	GUncertain significance
Select item 347967	NM_006017.3(PROM1):c.*684C>T	PROM1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +3 more	GConflicting classifications of pathogenicity
Select item 900369	NM_006017.3(PROM1):c.*681C>G	PROM1	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 12 +3 more	GUncertain significance
Select item 347968	NM_006017.3(PROM1):c.*667A>C	PROM1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +4 more	GBenign
Select item 901516	NM_006017.3(PROM1):c.*640T>A	PROM1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +3 more	GUncertain significance
Select item 902098	NM_006017.3(PROM1):c.*580T>A	PROM1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +3 more	GUncertain significance
Select item 347969	NM_006017.3(PROM1):c.*551A>T	PROM1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +3 more	GUncertain significance
Select item 902975	NM_006017.3(PROM1):c.*198T>C	PROM1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +3 more	GUncertain significance
Select item 900420	NM_006017.3(PROM1):c.*189A>G	PROM1	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 12 +3 more	GUncertain significance
Select item 900421	NM_006017.3(PROM1):c.*107G>T	PROM1	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 12 +3 more	GUncertain significance
Select item 347970	NM_006017.3(PROM1):c.*84del	PROM1	Deletion (3 prime UTR variant)	Stargardt Disease, Dominant +3 more	GLikely benign
Select item 1043112	NM_006017.3(PROM1):c.2596T>G (p.Ter866Gly)	PROM1	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 1398760	NM_006017.3(PROM1):c.2593C>A (p.His865Asn)	PROM1 (H856N +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 861100	NM_006017.3(PROM1):c.2590C>T (p.Gln864Ter)	PROM1 (Q832* +5 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2252547	NM_006017.3(PROM1):c.2584C>G (p.Pro862Ala)	PROM1 (P822A +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2956317	NM_006017.3(PROM1):c.2583-10dup	PROM1	Duplication (intron variant)	not provided	GBenign
Select item 1288875	NM_006017.3(PROM1):c.2582+43C>T	PROM1	Single nucleotide variant (intron variant)	Stargardt disease 4 +4 more	GBenign
Select item 2969199	NM_006017.3(PROM1):c.2582+16G>A	PROM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 900422	NM_006017.3(PROM1):c.2582+9A>C	PROM1	Single nucleotide variant (intron variant)	Retinitis pigmentosa +4 more	GConflicting classifications of pathogenicity
Select item 1669991	NM_006017.3(PROM1):c.2582+8A>C	PROM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1940700	NM_006017.3(PROM1):c.2579C>T (p.Thr860Ile)	PROM1 (T851I +1 more)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 347971	NM_006017.3(PROM1):c.2578A>G (p.Thr860Ala)	PROM1 (T860A +1 more)	Single nucleotide variant (missense variant +1 more)	Cone-rod dystrophy 12 +4 more	GConflicting classifications of pathogenicity
Select item 1018809	NM_006017.3(PROM1):c.2576T>A (p.Met859Lys)	PROM1 (M850K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1716810	NM_006017.3(PROM1):c.2575A>G (p.Met859Val)	PROM1 (M850V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2718617	NM_006017.3(PROM1):c.2572G>T (p.Val858Phe)	PROM1 (V849F +1 more)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 1009622	NM_006017.3(PROM1):c.2555A>G (p.Tyr852Cys)	PROM1 (Y843C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2093173	NM_006017.3(PROM1):c.2553A>G (p.Val851=)	PROM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 347972	NM_006017.3(PROM1):c.2551G>A (p.Val851Ile)	PROM1 (V851I +1 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +5 more	GConflicting classifications of pathogenicity
Select item 2182846	NM_006017.3(PROM1):c.2549A>G (p.His850Arg)	PROM1 (H841R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3027629	NM_006017.3(PROM1):c.2547T>A (p.Asp849Glu)	PROM1 (D840E +1 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 1908955	NM_006017.3(PROM1):c.2545G>A (p.Asp849Asn)	PROM1 (D840N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 931849	NM_006017.3(PROM1):c.2540A>G (p.His847Arg)	PROM1 (H847R +1 more)	Single nucleotide variant (missense variant +1 more)	Cone-rod dystrophy 12	GUncertain significance
Select item 1716391	NM_006017.3(PROM1):c.2537A>C (p.Tyr846Ser)	PROM1 (Y837S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3012867	NM_006017.3(PROM1):c.2534G>C (p.Gly845Ala)	PROM1 (G836A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2120262	NM_006017.3(PROM1):c.2534G>T (p.Gly845Val)	PROM1 (G836V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2754747	NM_006017.3(PROM1):c.2531A>G (p.Asn844Ser)	PROM1 (N844S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1026790	NM_006017.3(PROM1):c.2521A>G (p.Asn841Asp)	PROM1 (N832D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1004430	NM_006017.3(PROM1):c.2516T>C (p.Met839Thr)	PROM1 (M830T +1 more)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 1472486	NM_006017.3(PROM1):c.2515A>G (p.Met839Val)	PROM1 (M830V +1 more)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 624043	NM_006017.3(PROM1):c.2514-4A>G	PROM1	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 1100955	NM_006017.3(PROM1):c.2514-12T>C	PROM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1128733	NM_006017.3(PROM1):c.2513+19A>G	PROM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2096897	NM_006017.3(PROM1):c.2513+11T>A	PROM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2034610	NM_006017.3(PROM1):c.2513+4A>C	PROM1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1002266	NM_006017.3(PROM1):c.2513+3A>T	PROM1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1721733	NM_006017.3(PROM1):c.2513A>T (p.Asn838Ile)	PROM1 (N829I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 347973	NM_006017.3(PROM1):c.2508G>A (p.Met836Ile)	PROM1 (M836I +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa +3 more	GUncertain significance
Select item 2778353	NM_006017.3(PROM1):c.2501T>C (p.Ile834Thr)	PROM1 (I834T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2108405	NM_006017.3(PROM1):c.2500A>G (p.Ile834Val)	PROM1 (I834V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 867032	NM_006017.3(PROM1):c.2490-2A>G	PROM1	Single nucleotide variant (splice acceptor variant +1 more)	Retinal macular dystrophy type 2 +2 more	GConflicting classifications of pathogenicity
Select item 1673579	NM_006017.3(PROM1):c.2490-7T>C	PROM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964891	NM_006017.3(PROM1):c.2490-12dup	PROM1	Duplication (intron variant)	not provided	GBenign
Select item 1571264	NM_006017.3(PROM1):c.2490-11G>A	PROM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1931253	NM_006017.3(PROM1):c.2490-17T>C	PROM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1652219	NM_006017.3(PROM1):c.2490-18C>T	PROM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2035568	NM_006017.3(PROM1):c.2490-20C>T	PROM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1301447	NM_006017.3(PROM1):c.2490-84del	PROM1	Deletion (intron variant)	not provided	GBenign
Select item 1896792	NM_006017.3(PROM1):c.2489+20C>T	PROM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1639996	NM_006017.3(PROM1):c.2489+19A>G	PROM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007801	NM_006017.3(PROM1):c.2489+18C>T	PROM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1607377	NM_006017.3(PROM1):c.2489+13G>A	PROM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1553123	NM_006017.3(PROM1):c.2489+9G>A	PROM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 902154	NM_006017.3(PROM1):c.2489+8T>C	PROM1	Single nucleotide variant (intron variant)	Retinitis pigmentosa +3 more	GUncertain significance
Select item 1083381	NM_006017.3(PROM1):c.2489+7A>G	PROM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2096157	NM_006017.3(PROM1):c.2489+1G>A	PROM1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 903034	NM_006017.3(PROM1):c.2485G>A (p.Asp829Asn)	PROM1 (D820N +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +5 more	GConflicting classifications of pathogenicity
Select item 1108814	NM_006017.3(PROM1):c.2484C>T (p.Tyr828=)	PROM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1114346	NM_006017.3(PROM1):c.2481G>A (p.Val827=)	PROM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 347974	NM_006017.3(PROM1):c.2480T>C (p.Val827Ala)	PROM1 (V827A +1 more)	Single nucleotide variant (missense variant)	Retinal macular dystrophy type 2 +4 more	GUncertain significance
Select item 866800	NM_006017.3(PROM1):c.2479G>A (p.Val827Met)	PROM1 (V818M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1617338	NM_006017.3(PROM1):c.2478C>T (p.Asp826=)	PROM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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