23746[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	TRARG1, TRPV1 +651 more	Copy number loss	See cases	GPathogenic
Select item 144699	GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1	ABR, ABR-AS1 +498 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	LOC130059937, LOC130059938 +604 more	Copy number gain	See cases	GPathogenic
Select item 59563	GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1	AIPL1, ALOX12 +290 more	Copy number loss	See cases	GPathogenic
Select item 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	ACADVL, ACAP1 +461 more	Copy number gain	See cases	GPathogenic
Select item 57356	GRCh38/hg38 17p13.2-13.1(chr17:5732977-8038822)x1	SPEM3, TEKT1 +229 more	Copy number loss	See cases	GPathogenic
Select item 149166	GRCh38/hg38 17p13.2-13.1(chr17:6361393-7750863)x3	ACADVL, ACAP1 +182 more	Copy number gain	See cases	GLikely pathogenic
Select item 889085	NM_014336.5(AIPL1):c.*1693C>T	AIPL1	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 4	GUncertain significance
Select item 324567	NM_014336.5(AIPL1):c.*1679G>C	AIPL1	Single nucleotide variant (3 prime UTR variant)	Retinitis Pigmentosa, Recessive +2 more	GUncertain significance
Select item 324568	NM_014336.5(AIPL1):c.*1658T>C	AIPL1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +3 more	GBenign/Likely benign
Select item 324569	NM_014336.5(AIPL1):c.*1568G>A	AIPL1	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 4 +3 more	GLikely benign
Select item 324570	NM_014336.5(AIPL1):c.*1550A>C	AIPL1	Single nucleotide variant (3 prime UTR variant)	Retinitis Pigmentosa, Recessive +2 more	GUncertain significance
Select item 324571	NM_014336.5(AIPL1):c.*1537C>A	AIPL1	Single nucleotide variant (3 prime UTR variant)	Retinitis Pigmentosa, Dominant +2 more	GUncertain significance
Select item 324572	NM_014336.5(AIPL1):c.*1534G>A	AIPL1	Single nucleotide variant (3 prime UTR variant)	Retinitis Pigmentosa, Dominant +2 more	GUncertain significance
Select item 891327	NM_014336.5(AIPL1):c.*1527T>G	AIPL1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 891328	NM_014336.5(AIPL1):c.*1501G>A	AIPL1	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 4	GUncertain significance
Select item 324573	NM_014336.5(AIPL1):c.*1459G>T	AIPL1	Single nucleotide variant (3 prime UTR variant)	Retinitis Pigmentosa, Recessive +2 more	GUncertain significance
Select item 324574	NM_014336.5(AIPL1):c.*1455G>T	AIPL1	Single nucleotide variant (3 prime UTR variant)	Retinitis Pigmentosa, Recessive +2 more	GUncertain significance
Select item 324575	NM_014336.5(AIPL1):c.*1444G>A	AIPL1	Single nucleotide variant (3 prime UTR variant)	Retinitis Pigmentosa, Recessive +2 more	GUncertain significance
Select item 892520	NM_014336.5(AIPL1):c.*1433A>T	AIPL1	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 4	GUncertain significance
Select item 324576	NM_014336.5(AIPL1):c.*1398G>A	AIPL1	Single nucleotide variant (3 prime UTR variant)	Retinitis Pigmentosa, Recessive +2 more	GUncertain significance
Select item 324577	NM_014336.5(AIPL1):c.*1391C>T	AIPL1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +3 more	GBenign/Likely benign
Select item 324578	NM_014336.5(AIPL1):c.*1335A>C	AIPL1	Single nucleotide variant (3 prime UTR variant)	Retinitis Pigmentosa, Recessive +2 more	GUncertain significance
Select item 324579	NM_014336.5(AIPL1):c.*1289G>A	AIPL1	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GLikely benign
Select item 889159	NM_014336.5(AIPL1):c.*1288C>T	AIPL1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 889840	NM_014336.5(AIPL1):c.*1239C>T	AIPL1	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 4	GUncertain significance
Select item 324580	NM_014336.5(AIPL1):c.*1237C>T	AIPL1	Single nucleotide variant (3 prime UTR variant)	Retinitis Pigmentosa, Recessive +2 more	GConflicting classifications of pathogenicity
Select item 324581	NM_014336.5(AIPL1):c.*1229C>T	AIPL1	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign/Likely benign
Select item 324582	NM_014336.5(AIPL1):c.*1202C>T	AIPL1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +3 more	GBenign/Likely benign
Select item 324583	NM_014336.5(AIPL1):c.*1178C>T	AIPL1	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 4 +2 more	GConflicting classifications of pathogenicity
Select item 324584	NM_014336.5(AIPL1):c.*1165C>T	AIPL1	Single nucleotide variant (3 prime UTR variant)	Retinitis Pigmentosa, Recessive +2 more	GUncertain significance
Select item 891637	NM_014336.5(AIPL1):c.*1148G>A	AIPL1	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 4	GUncertain significance
Select item 324585	NM_014336.5(AIPL1):c.*1018G>A	AIPL1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +3 more	GBenign/Likely benign
Select item 324586	NM_014336.5(AIPL1):c.*1017C>T	AIPL1	Single nucleotide variant (3 prime UTR variant)	Retinitis Pigmentosa, Recessive +2 more	GUncertain significance
Select item 324587	NM_014336.5(AIPL1):c.*1009A>G	AIPL1	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 4 +3 more	GBenign/Likely benign
Select item 324588	NM_014336.5(AIPL1):c.*1007C>T	AIPL1	Single nucleotide variant (3 prime UTR variant)	Retinitis Pigmentosa, Recessive +2 more	GUncertain significance
Select item 324589	NM_014336.5(AIPL1):c.*887CAAAA[2]	AIPL1	Microsatellite (3 prime UTR variant)	Retinitis Pigmentosa, Recessive +2 more	GUncertain significance
Select item 889221	NM_014336.5(AIPL1):c.*873T>G	AIPL1	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 4	GUncertain significance
Select item 324590	NM_014336.5(AIPL1):c.*824G>C	AIPL1	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 4 +2 more	GConflicting classifications of pathogenicity
Select item 324591	NM_014336.5(AIPL1):c.*753G>A	AIPL1	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign/Likely benign
Select item 889902	NM_014336.5(AIPL1):c.*749G>A	AIPL1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 324592	NM_014336.5(AIPL1):c.*748C>T	AIPL1	Single nucleotide variant (3 prime UTR variant)	Retinitis Pigmentosa, Recessive +2 more	GUncertain significance
Select item 324593	NM_014336.5(AIPL1):c.*730dup	AIPL1	Duplication (3 prime UTR variant)	Retinitis Pigmentosa, Recessive +2 more	GUncertain significance
Select item 324594	NM_014336.5(AIPL1):c.*606G>A	AIPL1	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 4 +3 more	GBenign/Likely benign
Select item 891447	NM_014336.5(AIPL1):c.*576G>A	AIPL1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 891706	NM_014336.5(AIPL1):c.*564G>A	AIPL1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 891707	NM_014336.5(AIPL1):c.*486G>T	AIPL1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 891708	NM_014336.5(AIPL1):c.*434C>T	AIPL1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 324595	NM_014336.5(AIPL1):c.*390G>T	AIPL1	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 4 +2 more	GConflicting classifications of pathogenicity
Select item 324596	NM_014336.5(AIPL1):c.*280G>A	AIPL1	Single nucleotide variant (3 prime UTR variant)	Retinitis Pigmentosa, Dominant +2 more	GUncertain significance
Select item 324597	NM_014336.5(AIPL1):c.*221G>A	AIPL1	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 4 +2 more	GConflicting classifications of pathogenicity
Select item 324598	NM_014336.5(AIPL1):c.*188G>A	AIPL1	Single nucleotide variant (3 prime UTR variant)	Retinitis Pigmentosa, Recessive +2 more	GConflicting classifications of pathogenicity
Select item 889963	NM_014336.5(AIPL1):c.*164G>A	AIPL1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 324599	NM_014336.5(AIPL1):c.153_155del	AIPL1	Deletion (3 prime UTR variant)	Retinitis Pigmentosa, Recessive +2 more	GUncertain significance
Select item 324600	NM_014336.5(AIPL1):c.153_154del	AIPL1	Deletion (3 prime UTR variant)	Leber congenital amaurosis +3 more	GUncertain significance
Select item 324602	NM_014336.5(AIPL1):c.151_152dup	AIPL1	Duplication (3 prime UTR variant)	Retinitis Pigmentosa, Recessive +3 more	GConflicting classifications of pathogenicity
Select item 324601	NM_014336.5(AIPL1):c.*153del	AIPL1	Deletion (3 prime UTR variant)	Leber congenital amaurosis +2 more	GUncertain significance
Select item 1297751	NM_014336.5(AIPL1):c.*152del	AIPL1	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 324603	NM_014336.5(AIPL1):c.151_152del	AIPL1	Deletion (3 prime UTR variant)	Leber congenital amaurosis +3 more	GBenign/Likely benign
Select item 324604	NM_014336.5(AIPL1):c.150_151insCAA	AIPL1	Insertion (3 prime UTR variant)	Leber congenital amaurosis +3 more	GUncertain significance
Select item 324605	NM_014336.5(AIPL1):c.*150A>C	AIPL1	Single nucleotide variant (3 prime UTR variant)	Retinitis Pigmentosa, Dominant +2 more	GUncertain significance
Select item 889964	NM_014336.5(AIPL1):c.*148A>C	AIPL1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 324606	NM_014336.5(AIPL1):c.*147A>C	AIPL1	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 4 +2 more	GUncertain significance
Select item 891528	NM_014336.5(AIPL1):c.*146A>C	AIPL1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 324607	NM_014336.5(AIPL1):c.*134G>T	AIPL1	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 4 +2 more	GConflicting classifications of pathogenicity
Select item 891529	NM_014336.5(AIPL1):c.*112A>T	AIPL1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 324608	NM_014336.5(AIPL1):c.*53C>T	AIPL1	Single nucleotide variant (3 prime UTR variant)	Retinitis Pigmentosa, Recessive +3 more	GUncertain significance
Select item 324609	NM_014336.5(AIPL1):c.*33A>C	AIPL1	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GLikely benign
Select item 324610	NM_014336.5(AIPL1):c.*23C>G	AIPL1	Single nucleotide variant (3 prime UTR variant)	Retinitis Pigmentosa, Dominant +2 more	GUncertain significance
Select item 1939858	NM_014336.5(AIPL1):c.1147C>T (p.Gln383Ter)	AIPL1 (Q323* +6 more)	Single nucleotide variant (nonsense +1 more)	Leber congenital amaurosis 4	GUncertain significance
Select item 852446	NM_014336.5(AIPL1):c.1145T>A (p.Leu382Gln)	AIPL1 (L322Q +6 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 4	GUncertain significance
Select item 2981483	NM_014336.5(AIPL1):c.1143G>T (p.Ser381=)	AIPL1	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 4	GLikely benign
Select item 2799809	NM_014336.5(AIPL1):c.1143G>A (p.Ser381=)	AIPL1	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 4	GLikely benign
Select item 2704555	NM_014336.5(AIPL1):c.1143G>C (p.Ser381=)	AIPL1	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 4	GLikely benign
Select item 1349033	NM_014336.5(AIPL1):c.1136G>C (p.Gly379Ala)	AIPL1 (G357A +6 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 4	GUncertain significance
Select item 2061389	NM_014336.5(AIPL1):c.1135G>C (p.Gly379Arg)	AIPL1 (G316R +6 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 4 +1 more	GUncertain significance
Select item 2856542	NM_014336.5(AIPL1):c.1132C>T (p.Pro378Ser)	AIPL1 (P356S +6 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 4	GUncertain significance
Select item 2181141	NM_014336.5(AIPL1):c.1129T>A (p.Ser377Thr)	AIPL1 (S338T +6 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 4	GUncertain significance
Select item 1908606	NM_014336.5(AIPL1):c.1128G>A (p.Pro376=)	AIPL1	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 4	GLikely benign
Select item 1307451	NM_014336.5(AIPL1):c.1126C>G (p.Pro376Ala)	AIPL1 (P313A +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 65708	NM_014336.5(AIPL1):c.1126C>T (p.Pro376Ser)	AIPL1 (P376S +6 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 4 +4 more	GBenign/Likely benign
Select item 1916632	NM_014336.5(AIPL1):c.1123C>A (p.Pro375Thr)	AIPL1 (P336T +6 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 4	GUncertain significance
Select item 1411044	NM_014336.5(AIPL1):c.1123C>T (p.Pro375Ser)	AIPL1 (P353S +6 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 4	GUncertain significance
Select item 842899	NM_014336.5(AIPL1):c.1111_1122dup (p.Ala371_Pro374dup)	AIPL1	Duplication (inframe_insertion +1 more)	Leber congenital amaurosis 4	GUncertain significance
Select item 2694761	NM_014336.5(AIPL1):c.1116A>C (p.Thr372=)	AIPL1	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 4	GLikely benign
Select item 1384035	NM_014336.5(AIPL1):c.1112C>G (p.Ala371Gly)	AIPL1 (A308G +6 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 4 +1 more	GUncertain significance
Select item 324611	NM_014336.5(AIPL1):c.1108C>T (p.Pro370Ser)	AIPL1 (P370S +6 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa +4 more	GUncertain significance
Select item 2268159	NM_014336.5(AIPL1):c.1102G>A (p.Ala368Thr)	AIPL1 (A305T +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 290983	NM_014336.5(AIPL1):c.1101T>C (p.Pro367=)	AIPL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1020214	NM_014336.5(AIPL1):c.1100C>T (p.Pro367Leu)	AIPL1 (P304L +6 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 4	GUncertain significance
Select item 1478842	NM_014336.5(AIPL1):c.1099C>T (p.Pro367Ser)	AIPL1 (P307S +6 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 4	GUncertain significance
Select item 1497195	NM_014336.5(AIPL1):c.1096C>A (p.Pro366Thr)	AIPL1 (P303T +6 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 4	GUncertain significance
Select item 1022145	NM_014336.5(AIPL1):c.1095G>T (p.Gly365=)	AIPL1	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 4	GUncertain significance
Select item 2165078	NM_014336.5(AIPL1):c.1090G>A (p.Ala364Thr)	AIPL1 (A301T +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 291000	NM_014336.5(AIPL1):c.1090G>T (p.Ala364Ser)	AIPL1 (A364S +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 2002236	NM_014336.5(AIPL1):c.1084C>T (p.Leu362=)	AIPL1	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 4	GLikely benign
Select item 2010997	NM_014336.5(AIPL1):c.1081G>C (p.Glu361Gln)	AIPL1 (E349Q +6 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 4 +1 more	GUncertain significance

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