Related gene-specific medical variations for Gene (Select 23503) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3067974	NM_152443.3(RDH12):c.917T>G (p.Val306Gly)	GPHN, RDH12 +1 more (V306G)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GUncertain significance
Select item 3065528	NM_015346.4(ZFYVE26):c.6589-2A>G	ZFYVE26	Single nucleotide variant (splice acceptor variant)	Hereditary spastic paraplegia 15	GLikely pathogenic
Select item 3037009	NM_152443.3(RDH12):c.699C>A (p.Val233=)	GPHN, RDH12 +1 more	Single nucleotide variant (synonymous variant)	RDH12-related disorder	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 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 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 3005486	NM_152443.3(RDH12):c.849-16T>A	GPHN, RDH12 +1 more	Single nucleotide variant (intron variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2996983	NM_152443.3(RDH12):c.848+17C>T	GPHN, RDH12 +1 more	Single nucleotide variant (intron variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2970371	NM_152443.3(RDH12):c.848+18G>T	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 2919346	NM_152443.3(RDH12):c.849-11C>G	GPHN, RDH12 +1 more	Single nucleotide variant (intron variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2916560	NM_152443.3(RDH12):c.849-11C>T	GPHN, RDH12 +1 more	Single nucleotide variant (intron variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2916419	NM_152443.3(RDH12):c.849-13del	GPHN, RDH12 +1 more	Deletion (intron 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 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 2880964	NM_152443.3(RDH12):c.825G>C (p.Glu275Asp)	GPHN, RDH12 +1 more (E275D)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GUncertain significance
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 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 2865813	NM_152443.3(RDH12):c.849-10T>C	GPHN, RDH12 +1 more	Single nucleotide variant (intron 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 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 2852211	NM_152443.3(RDH12):c.942G>C (p.Arg314=)	GPHN, RDH12 +1 more	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2836160	NM_152443.3(RDH12):c.848+19del	GPHN, RDH12 +1 more	Deletion (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 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 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 2819003	NM_152443.3(RDH12):c.843C>G (p.Tyr281Ter)	GPHN, RDH12 +1 more (Y281*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 13	GPathogenic
Select item 2777428	NM_152443.3(RDH12):c.848+7G>T	GPHN, RDH12 +1 more	Single nucleotide variant (intron variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2769172	NM_152443.3(RDH12):c.906C>T (p.Arg302=)	GPHN, RDH12 +1 more	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2768162	NM_152443.3(RDH12):c.848+9A>C	GPHN, RDH12 +1 more	Single nucleotide variant (intron variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2762319	NM_152443.3(RDH12):c.796del (p.Leu266fs)	GPHN, RDH12 +1 more (L266fs)	Deletion (frameshift variant)	Leber congenital amaurosis 13	GPathogenic
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 2697759	NM_152443.3(RDH12):c.807_813del (p.Leu270fs)	GPHN, RDH12 +1 more (L270fs)	Deletion (frameshift variant)	Leber congenital amaurosis 13	GPathogenic
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 2696415	NM_152443.3(RDH12):c.848+15T>C	GPHN, RDH12 +1 more	Single nucleotide variant (intron variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2690458	NM_015346.4(ZFYVE26):c.7347A>T (p.Glu2449Asp)	ZFYVE26 (E2449D)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 15	GUncertain significance
Select item 2684007	NM_015346.4(ZFYVE26):c.5989C>T (p.Gln1997Ter)	ZFYVE26 (Q1997*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2684006	NM_015346.4(ZFYVE26):c.3523G>A (p.Asp1175Asn)	ZFYVE26 (D1175N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684005	NM_015346.4(ZFYVE26):c.2495C>A (p.Pro832Gln)	ZFYVE26 (P832Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684004	NM_015346.4(ZFYVE26):c.2021G>A (p.Gly674Asp)	ZFYVE26 (G674D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2678305	NM_152443.3(RDH12):c.804del (p.Cys268fs)	GPHN, RDH12 +1 more (C268fs)	Deletion (frameshift variant)	Leber congenital amaurosis 13	GLikely pathogenic
Select item 2678296	NM_152443.3(RDH12):c.787_788dup (p.Gln263fs)	ZFYVE26, GPHN +1 more (Q263fs)	Duplication (frameshift variant)	Leber congenital amaurosis 13	GLikely pathogenic
Select item 2635583	NM_152443.3(RDH12):c.912_916del (p.Trp304fs)	GPHN, RDH12 +1 more (W304fs)	Deletion (frameshift variant)	RDH12-related disorder	GLikely pathogenic
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 2570611	NM_015346.4(ZFYVE26):c.2551C>A (p.Gln851Lys)	ZFYVE26 (Q851K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2202670	NM_152443.3(RDH12):c.904C>T (p.Arg302Cys)	RDH12, GPHN +1 more (R302C)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GUncertain significance
Select item 2200811	NM_152443.3(RDH12):c.863C>T (p.Thr288Ile)	RDH12, ZFYVE26 +1 more (T288I)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GUncertain significance
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 2161142	NM_152443.3(RDH12):c.848+1GT[2]	RDH12, ZFYVE26 +1 more	Microsatellite (splice donor variant)	Leber congenital amaurosis 13	GUncertain significance
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 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 2155467	NM_152443.3(RDH12):c.905G>A (p.Arg302His)	RDH12, GPHN +1 more (R302H)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GUncertain significance
Select item 2155401	NM_152443.3(RDH12):c.864C>G (p.Thr288=)	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 2145909	NM_152443.3(RDH12):c.849-8C>T	GPHN, RDH12 +1 more	Single nucleotide variant (intron variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2139410	NM_152443.3(RDH12):c.848+17C>A	GPHN, RDH12 +1 more	Single nucleotide variant (intron 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 2133258	NM_152443.3(RDH12):c.848+1G>C	GPHN, RDH12 +1 more	Single nucleotide variant (splice donor variant)	Leber congenital amaurosis 13	GPathogenic
Select item 2122502	NM_152443.3(RDH12):c.867_884del (p.Trp289_Arg295delinsTer)	GPHN, RDH12 +1 more	Deletion (nonsense)	Leber congenital amaurosis 13	GPathogenic
Select item 2122110	NM_152443.3(RDH12):c.782G>T (p.Gly261Val)	GPHN, RDH12 +1 more (G261V)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GUncertain significance
Select item 2116745	NM_152443.3(RDH12):c.946del (p.Glu316fs)	GPHN, RDH12 +1 more (E316fs)	Deletion (frameshift variant)	Leber congenital amaurosis 13	GUncertain significance
Select item 2106279	NM_152443.3(RDH12):c.918C>T (p.Val306=)	GPHN, RDH12 +1 more	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2103954	NM_152443.3(RDH12):c.848+7G>A	GPHN, RDH12 +1 more	Single nucleotide variant (intron variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2092006	NM_152443.3(RDH12):c.786G>A (p.Ala262=)	GPHN, RDH12 +1 more	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2076882	NM_152443.3(RDH12):c.874C>T (p.Pro292Ser)	GPHN, RDH12 +1 more (P292S)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GUncertain significance
Select item 2060152	NM_152443.3(RDH12):c.840G>A (p.Lys280=)	GPHN, RDH12 +1 more	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
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 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 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 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 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 2019919	NM_152443.3(RDH12):c.848+19G>T	GPHN, RDH12 +1 more	Single nucleotide variant (intron 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 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 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 2002114	NM_152443.3(RDH12):c.791C>T (p.Thr264Ile)	GPHN, RDH12 +1 more (T264I)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GUncertain significance
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 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 1989876	NM_152443.3(RDH12):c.828C>G (p.Pro276=)	GPHN, RDH12 +1 more	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
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 1946795	NM_152443.3(RDH12):c.829_830del (p.Leu277fs)	GPHN, RDH12 +1 more (L277fs)	Deletion (frameshift variant)	Leber congenital amaurosis 13	GPathogenic
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 1924996	NM_152443.3(RDH12):c.847A>G (p.Ser283Gly)	GPHN, RDH12 +1 more (S283G)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GUncertain significance
Select item 1924474	NM_152443.3(RDH12):c.909A>G (p.Leu303=)	GPHN, RDH12 +1 more	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
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 1910925	NM_152443.3(RDH12):c.849-6C>T	GPHN, RDH12 +1 more	Single nucleotide variant (intron variant)	Leber congenital amaurosis 13	GLikely benign
Select item 1807037	NM_015346.4(ZFYVE26):c.7081C>A (p.Pro2361Thr)	ZFYVE26 (P2361T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1807035	NM_015346.4(ZFYVE26):c.5386G>A (p.Glu1796Lys)	ZFYVE26 (E1796K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1670319	NM_152443.3(RDH12):c.849-4C>T	GPHN, RDH12 +1 more	Single nucleotide variant (intron variant)	Leber congenital amaurosis 13	GLikely benign
Select item 1662319	NM_152443.3(RDH12):c.933A>G (p.Leu311=)	GPHN, RDH12 +1 more	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 1629807	NM_152443.3(RDH12):c.849-19G>A	GPHN, RDH12 +1 more	Single nucleotide variant (intron variant)	Leber congenital amaurosis 13	GLikely benign
Select item 1618355	NM_152443.3(RDH12):c.883C>A (p.Arg295=)	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 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 1598656	NM_152443.3(RDH12):c.848+14A>C	GPHN, RDH12 +1 more	Single nucleotide variant (intron variant)	Leber congenital amaurosis 13	GBenign
Select item 1589370	NM_152443.3(RDH12):c.915T>C (p.Asn305=)	GPHN, RDH12 +1 more	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 1587010	NM_152443.3(RDH12):c.789G>A (p.Gln263=)	GPHN, RDH12 +1 more	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign

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