ClinVar for MedGen (Select 346964) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243999	NC_000014.8:g.(?_88852163)_(88904766_?)dup	SPATA7	Duplication	Leber congenital amaurosis 3	GUncertain significance
Select item 2953078	NM_018418.5(SPATA7):c.837T>G (p.Thr279=)	SPATA7	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 3	GLikely benign
Select item 2952336	NM_018418.5(SPATA7):c.1245G>C (p.Leu415=)	SPATA7	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 3	GLikely benign
Select item 2951471	NM_018418.5(SPATA7):c.597T>C (p.Tyr199=)	SPATA7	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 3	GLikely benign
Select item 2949921	NM_018418.5(SPATA7):c.1632T>C (p.Asp544=)	SPATA7	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 3	GLikely benign
Select item 2949162	NM_018418.5(SPATA7):c.372+1G>A	SPATA7	Single nucleotide variant (splice donor variant)	Leber congenital amaurosis 3	GLikely pathogenic
Select item 2946478	NM_018418.5(SPATA7):c.1215+12C>T	SPATA7	Single nucleotide variant (intron variant)	Leber congenital amaurosis 3	GLikely benign
Select item 2942529	NM_018418.5(SPATA7):c.1160+18T>C	SPATA7	Single nucleotide variant (intron variant)	Leber congenital amaurosis 3	GLikely benign
Select item 2942222	NM_018418.5(SPATA7):c.1222del (p.Met408fs)	SPATA7 (M376fs +1 more)	Deletion (frameshift variant)	Leber congenital amaurosis 3	GPathogenic
Select item 2940245	NM_018418.5(SPATA7):c.190+12C>A	SPATA7	Single nucleotide variant (intron variant)	Leber congenital amaurosis 3	GLikely benign
Select item 2935557	NM_018418.5(SPATA7):c.1226G>A (p.Arg409His)	SPATA7 (R409H +1 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 3 +1 more	GUncertain significance
Select item 2932379	NM_018418.5(SPATA7):c.1160+5G>T	SPATA7	Single nucleotide variant (intron variant)	Leber congenital amaurosis 3	GUncertain significance
Select item 2931255	NM_018418.5(SPATA7):c.516T>C (p.Pro172=)	SPATA7	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 3	GLikely benign
Select item 2926515	NM_018418.5(SPATA7):c.219C>T (p.Ser73=)	SPATA7	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 3	GLikely benign
Select item 2924072	NM_018418.5(SPATA7):c.1308G>A (p.Leu436=)	SPATA7	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 3	GLikely benign
Select item 2923117	NM_018418.5(SPATA7):c.510T>C (p.Asn170=)	SPATA7	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 3	GLikely benign
Select item 2922883	NM_018418.5(SPATA7):c.191-14C>T	SPATA7	Single nucleotide variant (intron variant)	Leber congenital amaurosis 3	GLikely benign
Select item 2921738	NM_018418.5(SPATA7):c.373-6T>G	SPATA7	Single nucleotide variant (intron variant)	Leber congenital amaurosis 3	GLikely benign
Select item 2426472	NC_000014.8:g.(?_88852163)_(88904766_?)del	SPATA7	Deletion	Leber congenital amaurosis 3	GPathogenic
Select item 2426471	NC_000014.8:g.(?_88903867)_(88904766_?)dup	SPATA7	Duplication	Leber congenital amaurosis 3	GUncertain significance
Select item 2426470	NC_000014.8:g.(?_88391407)_(89343754_?)dup	EML5, GALC +6 more	Duplication	Leber congenital amaurosis 3	GUncertain significance
Select item 2421434	NM_018418.5(SPATA7):c.940A>G (p.Lys314Glu)	SPATA7 (K282E +1 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 3	GUncertain significance
Select item 2198328	NM_018418.5(SPATA7):c.564C>T (p.Ser188=)	SPATA7	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 3	GLikely benign
Select item 2194771	NM_018418.5(SPATA7):c.1710C>T (p.Ser570=)	SPATA7	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 3	GLikely benign
Select item 2188794	NM_018418.5(SPATA7):c.1252G>A (p.Asp418Asn)	SPATA7 (D418N +1 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 3	GUncertain significance
Select item 2188680	NM_018418.5(SPATA7):c.1621A>G (p.Ile541Val)	SPATA7 (I541V +1 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 3	GUncertain significance
Select item 2188435	NM_018418.5(SPATA7):c.756C>G (p.Phe252Leu)	SPATA7 (F220L +1 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 3	GUncertain significance
Select item 2182523	NM_018418.5(SPATA7):c.146A>G (p.Lys49Arg)	SPATA7 (K49R)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 3	GUncertain significance
Select item 2179207	NM_018418.5(SPATA7):c.836C>T (p.Thr279Ile)	SPATA7 (T247I +1 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 3	GUncertain significance
Select item 2175993	NM_018418.5(SPATA7):c.670G>T (p.Asp224Tyr)	SPATA7 (D224Y +1 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 3	GUncertain significance
Select item 2175227	NM_018418.5(SPATA7):c.91A>G (p.Asn31Asp)	SPATA7 (N31D)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 3	GUncertain significance
Select item 2173734	NM_018418.5(SPATA7):c.1715T>A (p.Val572Asp)	SPATA7 (V572D +1 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 3	GUncertain significance
Select item 2173295	NM_018418.5(SPATA7):c.660A>G (p.Ala220=)	SPATA7	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 3	GLikely benign
Select item 2163618	NM_018418.5(SPATA7):c.1360A>G (p.Asn454Asp)	SPATA7 (N422D +1 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 3	GUncertain significance
Select item 2158418	NM_018418.5(SPATA7):c.1161-16T>C	SPATA7	Single nucleotide variant (intron variant)	Leber congenital amaurosis 3	GLikely benign
Select item 2152795	NM_018418.5(SPATA7):c.1545T>G (p.Leu515=)	SPATA7	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 3	GLikely benign
Select item 2146225	NM_018418.5(SPATA7):c.1737C>T (p.Asp579=)	SPATA7	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 3	GLikely benign
Select item 2142122	NM_018418.5(SPATA7):c.102C>T (p.Cys34=)	SPATA7	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 3	GLikely benign
Select item 2135228	NM_018418.5(SPATA7):c.1275A>G (p.Glu425=)	SPATA7	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 3	GLikely benign
Select item 2125678	NM_018418.5(SPATA7):c.371A>G (p.Lys124Arg)	SPATA7 (K124R +1 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 3	GUncertain significance
Select item 2125267	NM_018418.5(SPATA7):c.41C>G (p.Pro14Arg)	SPATA7 (P14R)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 3	GUncertain significance
Select item 2115136	NM_018418.5(SPATA7):c.1425G>A (p.Leu475=)	SPATA7	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 3	GLikely benign
Select item 2100961	NM_018418.5(SPATA7):c.477_478del (p.Leu161fs)	SPATA7 (L129fs +1 more)	Deletion (frameshift variant)	Leber congenital amaurosis 3	GPathogenic
Select item 2095983	NM_018418.5(SPATA7):c.1057C>T (p.Pro353Ser)	SPATA7 (P353S +1 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 3	GUncertain significance
Select item 2095243	NM_018418.5(SPATA7):c.1730A>G (p.Asn577Ser)	SPATA7 (N545S +1 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 3	GUncertain significance
Select item 2093809	NM_018418.5(SPATA7):c.1079_1080del (p.Tyr359_Ser360insTer)	SPATA7	Microsatellite (nonsense)	Leber congenital amaurosis 3	GPathogenic
Select item 2092000	NM_018418.5(SPATA7):c.1197A>C (p.Gln399His)	SPATA7 (Q399H +1 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 3	GUncertain significance
Select item 2090160	NM_018418.5(SPATA7):c.1090G>T (p.Glu364Ter)	SPATA7 (E364* +1 more)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 3	GPathogenic
Select item 2088868	NM_018418.5(SPATA7):c.89G>A (p.Ser30Asn)	SPATA7 (S30N)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 3	GUncertain significance
Select item 2085471	NM_018418.5(SPATA7):c.20-12del	SPATA7	Deletion (intron variant)	Leber congenital amaurosis 3	GBenign
Select item 2084502	NM_018418.5(SPATA7):c.661C>T (p.Pro221Ser)	SPATA7 (P221S +1 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 3	GUncertain significance
Select item 2081056	NM_018418.5(SPATA7):c.1327A>G (p.Lys443Glu)	SPATA7 (K411E +1 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 3	GUncertain significance
Select item 2072903	NM_018418.5(SPATA7):c.239-10dup	SPATA7	Duplication (intron variant)	Leber congenital amaurosis 3	GBenign
Select item 2072208	NM_018418.5(SPATA7):c.409A>G (p.Lys137Glu)	SPATA7 (K137E +1 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 3	GUncertain significance
Select item 2072001	NM_018418.5(SPATA7):c.1216-4del	SPATA7	Deletion (intron variant)	Leber congenital amaurosis 3	GLikely benign
Select item 2070855	NM_018418.5(SPATA7):c.1082+6A>C	SPATA7	Single nucleotide variant (intron variant)	Leber congenital amaurosis 3	GUncertain significance
Select item 2070637	NM_018418.5(SPATA7):c.322C>A (p.Arg108=)	SPATA7	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 3	GLikely benign
Select item 2069368	NM_018418.5(SPATA7):c.94+19A>G	SPATA7	Single nucleotide variant (intron variant)	Leber congenital amaurosis 3	GLikely benign
Select item 2056410	NM_018418.5(SPATA7):c.1468G>A (p.Glu490Lys)	SPATA7 (E490K +1 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 3	GUncertain significance
Select item 2048599	NM_018418.5(SPATA7):c.190+14A>G	SPATA7	Single nucleotide variant (intron variant)	Leber congenital amaurosis 3	GLikely benign
Select item 2045552	NM_018418.5(SPATA7):c.794A>G (p.Lys265Arg)	SPATA7 (K265R +1 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 3	GUncertain significance
Select item 2043149	NM_018418.5(SPATA7):c.935A>G (p.Asp312Gly)	SPATA7 (D280G +1 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 3	GUncertain significance
Select item 2042706	NM_018418.5(SPATA7):c.1057C>G (p.Pro353Ala)	SPATA7 (P321A +1 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 3 +1 more	GUncertain significance
Select item 2037281	NM_018418.5(SPATA7):c.654G>A (p.Ser218=)	SPATA7	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 3	GLikely benign
Select item 2036809	NM_018418.5(SPATA7):c.448C>T (p.Leu150=)	SPATA7	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 3	GLikely benign
Select item 2033625	NM_018418.5(SPATA7):c.845+9C>T	SPATA7	Single nucleotide variant (intron variant)	Leber congenital amaurosis 3	GLikely benign
Select item 2025990	NM_018418.5(SPATA7):c.507A>G (p.Thr169=)	SPATA7	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 3	GLikely benign
Select item 2023956	NM_018418.5(SPATA7):c.1082+2del	SPATA7	Deletion (splice donor variant)	Leber congenital amaurosis 3	GLikely pathogenic
Select item 2021958	NM_018418.5(SPATA7):c.1093C>T (p.Leu365=)	SPATA7	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 3	GLikely benign
Select item 2019922	NM_018418.5(SPATA7):c.239-19G>T	SPATA7	Single nucleotide variant (intron variant)	Leber congenital amaurosis 3	GLikely benign
Select item 2014731	NM_018418.5(SPATA7):c.864del (p.Thr289fs)	SPATA7 (T257fs +1 more)	Deletion (frameshift variant)	Leber congenital amaurosis 3	GPathogenic
Select item 2014393	NM_018418.5(SPATA7):c.361A>G (p.Thr121Ala)	SPATA7 (T121A +1 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 3	GUncertain significance
Select item 2012769	NM_018418.5(SPATA7):c.1212G>A (p.Glu404=)	SPATA7	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 3	GLikely benign
Select item 2011026	NM_018418.5(SPATA7):c.568C>T (p.Pro190Ser)	SPATA7 (P190S +1 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 3	GUncertain significance
Select item 2009294	NM_018418.5(SPATA7):c.451G>A (p.Val151Ile)	SPATA7 (V151I +1 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 3	GUncertain significance
Select item 2009148	NM_018418.5(SPATA7):c.1330G>A (p.Ala444Thr)	SPATA7 (A412T +1 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 3	GUncertain significance
Select item 2008232	NM_018418.5(SPATA7):c.94+5G>T	SPATA7	Single nucleotide variant (intron variant)	Leber congenital amaurosis 3	GUncertain significance
Select item 2004966	NM_018418.5(SPATA7):c.1555A>G (p.Thr519Ala)	SPATA7 (T487A +1 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 3	GUncertain significance
Select item 1999693	NM_018418.5(SPATA7):c.94+1G>C	SPATA7	Single nucleotide variant (splice donor variant)	Leber congenital amaurosis 3	GLikely pathogenic
Select item 1989492	NM_018418.5(SPATA7):c.123A>T (p.Arg41Ser)	SPATA7 (R41S)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 3	GUncertain significance
Select item 1983611	NM_018418.5(SPATA7):c.400G>A (p.Asp134Asn)	SPATA7 (D102N +1 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 3	GUncertain significance
Select item 1982765	NM_018418.5(SPATA7):c.265C>T (p.Leu89Phe)	SPATA7 (L57F +1 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 3	GUncertain significance
Select item 1981795	NM_018418.5(SPATA7):c.1627G>A (p.Gly543Ser)	SPATA7 (G511S +1 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 3	GUncertain significance
Select item 1976427	NM_018418.5(SPATA7):c.190+11G>A	SPATA7	Single nucleotide variant (intron variant)	Leber congenital amaurosis 3	GLikely benign
Select item 1970357	NM_018418.5(SPATA7):c.1215+3T>A	SPATA7	Single nucleotide variant (intron variant)	Leber congenital amaurosis 3	GUncertain significance
Select item 1969318	NM_018418.5(SPATA7):c.1485T>G (p.Ile495Met)	SPATA7 (I495M +1 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 3	GUncertain significance
Select item 1968955	NM_018418.5(SPATA7):c.788A>G (p.Lys263Arg)	SPATA7 (K231R +1 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 3	GUncertain significance
Select item 1967922	NM_018418.5(SPATA7):c.578_581dup (p.Ser195fs)	SPATA7 (S195fs +1 more)	Duplication (frameshift variant)	Leber congenital amaurosis 3	GPathogenic
Select item 1954332	NM_018418.5(SPATA7):c.227C>G (p.Thr76Ser)	SPATA7 (T44S +1 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 3	GUncertain significance
Select item 1950072	NM_018418.5(SPATA7):c.1648del (p.Val550fs)	SPATA7 (V550fs +1 more)	Deletion (frameshift variant)	Leber congenital amaurosis 3	GUncertain significance
Select item 1935179	NM_018418.5(SPATA7):c.1719A>T (p.Lys573Asn)	SPATA7 (K541N +1 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 3	GUncertain significance
Select item 1934802	NM_018418.5(SPATA7):c.47A>G (p.Tyr16Cys)	SPATA7 (Y16C)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 3	GUncertain significance
Select item 1931992	NM_018418.5(SPATA7):c.908A>C (p.Lys303Thr)	SPATA7 (K271T +1 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 3	GUncertain significance
Select item 1926739	NM_018418.5(SPATA7):c.82A>G (p.Thr28Ala)	SPATA7 (T28A)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 3	GUncertain significance
Select item 1921703	NM_018418.5(SPATA7):c.4G>C (p.Asp2His)	LOC130056226, SPATA7 (D2H)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 3	GUncertain significance
Select item 1916998	NM_018418.5(SPATA7):c.567G>A (p.Gly189=)	SPATA7	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 3	GLikely benign
Select item 1908183	NM_018418.5(SPATA7):c.1666T>G (p.Leu556Val)	SPATA7 (L524V +1 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 3	GUncertain significance
Select item 1899462	NM_018418.5(SPATA7):c.1284A>G (p.Val428=)	SPATA7	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 3	GLikely benign
Select item 1898691	NM_018418.5(SPATA7):c.1215+7C>T	SPATA7	Single nucleotide variant (intron variant)	Leber congenital amaurosis 3	GLikely benign
Select item 1896845	NM_018418.5(SPATA7):c.1622T>A (p.Ile541Asn)	SPATA7 (I509N +1 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 3	GUncertain significance

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