23503[geneid] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 2935

<< First< Prev

Page of 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126861920, LOC126861921 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	GSC, GSC-DT +3275 more	Copy number gain	See cases	GPathogenic
Select item 438252	Single allele	GPHN, RDH12 +1 more	Deletion	Retinal dystrophy	GLikely pathogenic
Select item 3016102	NM_152443.3(RDH12):c.659-20T>C	GPHN, RDH12 +1 more	Single nucleotide variant (intron variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2822187	NM_152443.3(RDH12):c.659-16G>A	GPHN, RDH12 +1 more	Single nucleotide variant (intron variant)	Leber congenital amaurosis 13	GLikely benign
Select item 1529834	NM_152443.3(RDH12):c.659-15C>A	GPHN, RDH12 +1 more	Single nucleotide variant (intron variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2957692	NM_152443.3(RDH12):c.659-14C>T	GPHN, RDH12 +1 more	Single nucleotide variant (intron variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2889829	NM_152443.3(RDH12):c.659-11_659-10del	GPHN, RDH12 +1 more	Microsatellite (intron variant)	Leber congenital amaurosis 13	GLikely benign
Select item 313840	NM_152443.3(RDH12):c.659-12T>C	GPHN, RDH12 +1 more	Single nucleotide variant (intron variant)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 2733179	NM_152443.3(RDH12):c.659-11C>T	GPHN, RDH12 +1 more	Single nucleotide variant (intron variant)	Leber congenital amaurosis 13	GLikely benign
Select item 1084132	NM_152443.3(RDH12):c.659-10T>C	GPHN, RDH12 +1 more	Single nucleotide variant (intron variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2025212	NM_152443.3(RDH12):c.659-9T>C	GPHN, RDH12 +1 more	Single nucleotide variant (intron variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2831464	NM_152443.3(RDH12):c.659-7G>C	GPHN, RDH12 +1 more	Single nucleotide variant (intron variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2157633	NM_152443.3(RDH12):c.659-3C>T	GPHN, RDH12 +1 more	Single nucleotide variant (intron variant)	Leber congenital amaurosis 13	GUncertain significance
Select item 1523328	NM_152443.3(RDH12):c.659-2A>C	GPHN, RDH12 +1 more	Single nucleotide variant (splice acceptor variant)	Leber congenital amaurosis 13	GLikely pathogenic
Select item 977810	NM_152443.3(RDH12):c.659-2A>T	GPHN, RDH12 +1 more	Single nucleotide variant (splice acceptor variant)	Leber congenital amaurosis 13	GLikely pathogenic
Select item 2025716	NM_152443.3(RDH12):c.659-1G>A	GPHN, RDH12 +1 more	Single nucleotide variant (splice acceptor variant)	Leber congenital amaurosis 13	GLikely pathogenic
Select item 2000910	NM_152443.3(RDH12):c.660C>A (p.Gly220=)	GPHN, RDH12 +1 more	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 313841	NM_152443.3(RDH12):c.662C>T (p.Thr221Ile)	GPHN, RDH12 +1 more (T221I)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13 +3 more	GConflicting classifications of pathogenicity
Select item 2866260	NM_152443.3(RDH12):c.663C>A (p.Thr221=)	GPHN, RDH12 +1 more	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GUncertain significance
Select item 1113827	NM_152443.3(RDH12):c.663C>T (p.Thr221=)	GPHN, RDH12 +1 more	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2879911	NM_152443.3(RDH12):c.664G>T (p.Gly222Trp)	GPHN, RDH12 +1 more (G222W)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GUncertain significance
Select item 2054303	NM_152443.3(RDH12):c.664G>A (p.Gly222Arg)	ZFYVE26, RDH12 +1 more (G222R)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GUncertain significance
Select item 1213891	NM_152443.3(RDH12):c.667G>T (p.Val223Phe)	GPHN, RDH12 +1 more (V223F)	Single nucleotide variant (missense variant)	Leber congenital amaurosis +1 more	GConflicting classifications of pathogenicity
Select item 3028281	NM_152443.3(RDH12):c.668T>A (p.Val223Asp)	GPHN, RDH12 +1 more (V223D)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 867045	NM_152443.3(RDH12):c.671C>T (p.Thr224Ile)	GPHN, RDH12 +1 more (T224I)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 2697451	NM_152443.3(RDH12):c.672C>T (p.Thr224=)	GPHN, RDH12 +1 more	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2046	NM_152443.3(RDH12):c.677A>G (p.Tyr226Cys)	GPHN, RDH12 +1 more (Y226C)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 836859	NM_152443.3(RDH12):c.680_683del (p.Ala227fs)	GPHN, RDH12 +1 more (A227fs)	Deletion (frameshift variant)	Leber congenital amaurosis 13	GPathogenic
Select item 1604156	NM_152443.3(RDH12):c.681A>G (p.Ala227=)	ZFYVE26, GPHN +1 more	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 1103006	NM_152443.3(RDH12):c.684G>T (p.Val228=)	RDH12, ZFYVE26 +1 more	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 1999388	NM_152443.3(RDH12):c.687C>T (p.His229=)	GPHN, RDH12 +1 more	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2053	NM_152443.3(RDH12):c.688C>G (p.Pro230Ala)	RDH12, ZFYVE26 +1 more (P230A)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GPathogenic
Select item 1045693	NM_152443.3(RDH12):c.691G>C (p.Gly231Arg)	GPHN, RDH12 +1 more (G231R)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GUncertain significance
Select item 1502708	NM_152443.3(RDH12):c.693C>T (p.Gly231=)	GPHN, RDH12 +1 more	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2864208	NM_152443.3(RDH12):c.696C>G (p.Val232=)	GPHN, RDH12 +1 more	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2137598	NM_152443.3(RDH12):c.697_698dup (p.Arg234fs)	GPHN, RDH12 +1 more (R234fs)	Duplication (frameshift variant)	Leber congenital amaurosis 13	GPathogenic
Select item 866751	NM_152443.3(RDH12):c.697G>C (p.Val233Leu)	GPHN, RDH12 +1 more (V233L)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13 +1 more	GPathogenic/Likely pathogenic
Select item 805926	NM_152443.3(RDH12):c.697G>A (p.Val233Ile)	GPHN, RDH12 +1 more (V233I)	Single nucleotide variant (missense variant)	Macular dystrophy	GPathogenic
Select item 636080	NM_152443.3(RDH12):c.697G>T (p.Val233Phe)	RDH12, ZFYVE26 +1 more (V233F)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GUncertain significance
Select item 1301382	NM_152443.3(RDH12):c.698T>A (p.Val233Asp)	ZFYVE26, RDH12 +1 more (V233D)	Single nucleotide variant (missense variant)	Leber congenital amaurosis	GPathogenic
Select item 837228	NM_152443.3(RDH12):c.698_699delinsAA (p.Val233Glu)	GPHN, RDH12 +1 more (V233E)	Indel (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3037009	NM_152443.3(RDH12):c.699C>A (p.Val233=)	GPHN, RDH12 +1 more	Single nucleotide variant (synonymous variant)	RDH12-related condition	GLikely benign
Select item 2856171	NM_152443.3(RDH12):c.699C>T (p.Val233=)	GPHN, RDH12 +1 more	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2155897	NM_152443.3(RDH12):c.700C>T (p.Arg234Cys)	GPHN, ZFYVE26 +1 more (R234C)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GUncertain significance
Select item 313842	NM_152443.3(RDH12):c.701G>A (p.Arg234His)	ZFYVE26, GPHN +1 more (R234H)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13 +4 more	GConflicting classifications of pathogenicity
Select item 989723	NM_152443.3(RDH12):c.709C>G (p.Leu237Val)	GPHN, RDH12 +1 more (L237V)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GUncertain significance
Select item 797514	NM_152443.3(RDH12):c.709C>T (p.Leu237=)	GPHN, RDH12 +1 more	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2903925	NM_152443.3(RDH12):c.711G>A (p.Leu237=)	GPHN, RDH12 +1 more	Single nucleotide variant (synonymous variant)	Retinal dystrophy +1 more	GLikely benign
Select item 1538933	NM_152443.3(RDH12):c.711G>C (p.Leu237=)	GPHN, RDH12 +1 more	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 1006436	NM_152443.3(RDH12):c.712G>C (p.Val238Leu)	RDH12, GPHN +1 more (V238L)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GUncertain significance
Select item 865754	NM_152443.3(RDH12):c.715dup (p.Arg239fs)	GPHN, RDH12 +1 more (R239fs)	Duplication (frameshift variant)	Retinal dystrophy +1 more	GPathogenic
Select item 2008560	NM_152443.3(RDH12):c.714C>G (p.Val238=)	ZFYVE26, GPHN +1 more	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 1532014	NM_152443.3(RDH12):c.714C>T (p.Val238=)	GPHN, RDH12 +1 more	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2018698	NM_152443.3(RDH12):c.715C>A (p.Arg239=)	GPHN, RDH12 +1 more	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 865997	NM_152443.3(RDH12):c.715C>T (p.Arg239Trp)	GPHN, RDH12 +1 more (R239W)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 977811	NM_152443.3(RDH12):c.716G>A (p.Arg239Gln)	GPHN, RDH12 +1 more (R239Q)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GLikely pathogenic
Select item 536988	NM_152443.3(RDH12):c.716G>T (p.Arg239Leu)	GPHN, RDH12 +1 more (R239L)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13 +1 more	GPathogenic/Likely pathogenic
Select item 882200	NM_152443.3(RDH12):c.719A>G (p.His240Arg)	GPHN, RDH12 +1 more (H240R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GUncertain significance
Select item 1913744	NM_152443.3(RDH12):c.720C>T (p.His240=)	GPHN, RDH12 +1 more	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 1929453	NM_152443.3(RDH12):c.723del (p.Ser242fs)	GPHN, RDH12 +1 more (S242fs)	Deletion (frameshift variant)	Leber congenital amaurosis 13	GPathogenic
Select item 1213890	NM_152443.3(RDH12):c.731T>C (p.Leu244Pro)	GPHN, RDH12 +1 more (L244P)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GUncertain significance
Select item 2015198	NM_152443.3(RDH12):c.733T>G (p.Cys245Gly)	GPHN, RDH12 +1 more (C245G)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GUncertain significance
Select item 1121834	NM_152443.3(RDH12):c.735C>T (p.Cys245=)	GPHN, RDH12 +1 more	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 1539574	NM_152443.3(RDH12):c.738G>A (p.Leu246=)	GPHN, RDH12 +1 more	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 989724	NM_152443.3(RDH12):c.739C>T (p.Leu247Phe)	GPHN, RDH12 +1 more (L247F)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GUncertain significance
Select item 1080780	NM_152443.3(RDH12):c.741C>A (p.Leu247=)	GPHN, RDH12 +1 more	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 1111889	NM_152443.3(RDH12):c.745C>A (p.Arg249=)	GPHN, RDH12 +1 more	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 954589	NM_152443.3(RDH12):c.745C>T (p.Arg249Trp)	GPHN, RDH12 +1 more (R249W)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GUncertain significance
Select item 313843	NM_152443.3(RDH12):c.748C>T (p.Leu250Phe)	GPHN, RDH12 +1 more (L250F)	Single nucleotide variant (missense variant)	Retinitis Pigmentosa, Recessive +2 more	GUncertain significance
Select item 844175	NM_152443.3(RDH12):c.749T>C (p.Leu250Pro)	GPHN, RDH12 +1 more (L250P)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13 +1 more	GUncertain significance
Select item 2819879	NM_152443.3(RDH12):c.750C>T (p.Leu250=)	GPHN, RDH12 +1 more	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2194412	NM_152443.3(RDH12):c.751T>C (p.Phe251Leu)	GPHN, ZFYVE26 +1 more (F251L)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GUncertain significance
Select item 977814	NM_152443.3(RDH12):c.759dup (p.Phe254fs)	GPHN, RDH12 +1 more (F254fs)	Duplication (frameshift variant)	Abnormality of the eye	GLikely pathogenic
Select item 1966455	NM_152443.3(RDH12):c.755C>T (p.Ser252Phe)	RDH12, GPHN +1 more (S252F)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GUncertain significance
Select item 882201	NM_152443.3(RDH12):c.755C>A (p.Ser252Tyr)	ZFYVE26, GPHN +1 more (S252Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 812389	NM_152443.3(RDH12):c.759del (p.Phe254fs)	GPHN, RDH12 +1 more (F254fs)	Deletion (frameshift variant)	Leber congenital amaurosis 13 +1 more	GPathogenic/Likely pathogenic
Select item 2020435	NM_152443.3(RDH12):c.756C>G (p.Ser252=)	GPHN, RDH12 +1 more	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 1615984	NM_152443.3(RDH12):c.756C>T (p.Ser252=)	GPHN, RDH12 +1 more	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 1475564	NM_152443.3(RDH12):c.757C>A (p.Pro253Thr)	ZFYVE26, GPHN +1 more (P253T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1431321	NM_152443.3(RDH12):c.758C>A (p.Pro253His)	GPHN, RDH12 +1 more (P253H)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GUncertain significance
Select item 989725	NM_152443.3(RDH12):c.758C>G (p.Pro253Arg)	RDH12, ZFYVE26 +1 more (P253R)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13 +1 more	GUncertain significance
Select item 940954	NM_152443.3(RDH12):c.758C>T (p.Pro253Leu)	GPHN, RDH12 +1 more (P253L)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GUncertain significance
Select item 1080581	NM_152443.3(RDH12):c.759C>T (p.Pro253=)	GPHN, RDH12 +1 more	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 3028282	NM_152443.3(RDH12):c.761_762insA (p.Phe254fs)	GPHN, RDH12 +1 more (F254fs)	Insertion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 1569587	NM_152443.3(RDH12):c.762T>C (p.Phe254=)	GPHN, RDH12 +1 more	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2154207	NM_152443.3(RDH12):c.764T>G (p.Val255Gly)	ZFYVE26, RDH12 +1 more (V255G)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GUncertain significance
Select item 1550773	NM_152443.3(RDH12):c.765C>T (p.Val255=)	GPHN, RDH12 +1 more	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 1720285	NM_152443.3(RDH12):c.766A>C (p.Lys256Gln)	GPHN, RDH12 +1 more (K256Q)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GUncertain significance
Select item 2581254	NM_152443.3(RDH12):c.770C>T (p.Thr257Met)	GPHN, RDH12 +1 more (T257M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1098022	NM_152443.3(RDH12):c.771G>C (p.Thr257=)	GPHN, RDH12 +1 more	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 643855	NM_152443.3(RDH12):c.771G>A (p.Thr257=)	ZFYVE26, GPHN +1 more	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2494286	NM_152443.3(RDH12):c.776G>T (p.Arg259Leu)	GPHN, RDH12 +1 more (R259L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 143163	NM_152443.3(RDH12):c.778del (p.Glu260fs)	GPHN, RDH12 +1 more (E260fs)	Deletion (frameshift variant)	Retinal dystrophy +1 more	GPathogenic
Select item 1161079	NM_152443.3(RDH12):c.777G>C (p.Arg259=)	GPHN, RDH12 +1 more	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2678308	NM_152443.3(RDH12):c.779dup (p.Ala262fs)	GPHN, RDH12 +1 more (A262fs)	Duplication (frameshift variant)	Leber congenital amaurosis 13	GPathogenic/Likely pathogenic
Select item 648633	NM_152443.3(RDH12):c.784dup (p.Ala262fs)	GPHN, RDH12 +1 more (A262fs)	Duplication (frameshift variant)	Leber congenital amaurosis 13	GPathogenic
Select item 2028567	NM_152443.3(RDH12):c.780G>T (p.Glu260Asp)	ZFYVE26, RDH12 +1 more (E260D)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GUncertain significance
Select item 1546885	NM_152443.3(RDH12):c.780G>A (p.Glu260=)	ZFYVE26, RDH12 +1 more	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 1458632	NM_152443.3(RDH12):c.784del (p.Ala262fs)	GPHN, RDH12 +1 more (A262fs)	Deletion (frameshift variant)	Leber congenital amaurosis 13 +1 more	GPathogenic

<< First< Prev

Page of 30