ClinVar for Gene (Select 55812) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3168648	NM_018418.5(SPATA7):c.902A>G (p.Asn301Ser)	SPATA7 (N269S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168647	NM_018418.5(SPATA7):c.299T>C (p.Phe100Ser)	SPATA7 (F100S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168646	NM_018418.5(SPATA7):c.248A>G (p.Gln83Arg)	SPATA7 (Q83R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168645	NM_018418.5(SPATA7):c.131C>G (p.Thr44Ser)	SPATA7 (T44S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3168643	NM_018418.5(SPATA7):c.1288C>G (p.Gln430Glu)	SPATA7 (Q398E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3149170	NM_007039.4(PTPN21):c.3302A>G (p.Asn1101Ser)	PTPN21, SPATA7 (N1101S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149169	NM_007039.4(PTPN21):c.3004G>A (p.Gly1002Ser)	PTPN21, SPATA7 (G1002S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035962	NM_018418.5(SPATA7):c.1029-10_1029-4del	SPATA7	Deletion (intron variant)	SPATA7-related condition	GLikely benign
Select item 3028293	NM_018418.5(SPATA7):c.1774A>G (p.Ile592Val)	SPATA7 (I560V +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028291	NM_018418.5(SPATA7):c.1032A>G (p.Ala344=)	SPATA7	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3028290	NM_018418.5(SPATA7):c.915A>G (p.Ala305=)	SPATA7	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3028289	NM_018418.5(SPATA7):c.751T>G (p.Ser251Ala)	SPATA7 (S219A +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028288	NM_018418.5(SPATA7):c.730A>G (p.Thr244Ala)	SPATA7 (T212A +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 3028287	NM_018418.5(SPATA7):c.610A>G (p.Arg204Gly)	SPATA7 (R172G +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028286	NM_018418.5(SPATA7):c.441A>G (p.Ala147=)	SPATA7	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3028285	NM_018418.5(SPATA7):c.264A>G (p.Lys88=)	SPATA7	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3028283	NM_018418.5(SPATA7):c.109T>G (p.Ser37Ala)	SPATA7 (S37A)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	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)	SPATA7-related condition +1 more	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 2690936	NM_018418.5(SPATA7):c.239-522_239-436del	GALC, SPATA7	Deletion (intron variant)	Galactosylceramide beta-galactosidase deficiency	GLikely pathogenic
Select item 2684743	GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3	ADSS1, AHNAK2 +182 more	Copy number gain	not provided	GPathogenic
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	ACOT4, ACOT6 +353 more	Copy number gain	not provided	GPathogenic
Select item 2644435	NM_007039.4(PTPN21):c.3051G>A (p.Arg1017=)	PTPN21, SPATA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2600484	NM_018418.5(SPATA7):c.125T>G (p.Leu42Arg)	SPATA7 (L42R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2600482	NM_007039.4(PTPN21):c.3403G>C (p.Asp1135His)	PTPN21, SPATA7 (D1135H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2577497	NM_018418.5(SPATA7):c.283C>T (p.Gln95Ter)	SPATA7 (Q63* +1 more)	Single nucleotide variant (nonsense)	Leber congenital amaurosis	GLikely pathogenic
Select item 2570894	GRCh37/hg19 14q31.3-32.13(chr14:88401076-94725706)x1	ASB2, CPSF2 +48 more	Copy number loss	not provided	GPathogenic
Select item 2546221	NM_018418.5(SPATA7):c.434C>A (p.Ser145Tyr)	SPATA7 (S145Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542104	NM_007039.4(PTPN21):c.3487G>A (p.Val1163Ile)	PTPN21, SPATA7 (V1163I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2501235	NM_018418.5(SPATA7):c.1582del (p.Ser528fs)	SPATA7 (S496fs +1 more)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 2471224	NM_018418.5(SPATA7):c.439G>T (p.Ala147Ser)	SPATA7 (A115S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2445747	NM_018418.5(SPATA7):c.293_294del (p.Lys98fs)	SPATA7 (K66fs +1 more)	Deletion (frameshift variant)	Leber congenital amaurosis	GLikely pathogenic
Select item 2445691	NM_018418.5(SPATA7):c.136C>T (p.Gln46Ter)	SPATA7 (Q46*)	Single nucleotide variant (nonsense +1 more)	Leber congenital amaurosis	GLikely pathogenic
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 2379650	NM_007039.4(PTPN21):c.3299C>T (p.Pro1100Leu)	PTPN21, SPATA7 (P1100L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311165	NM_007039.4(PTPN21):c.3430A>G (p.Arg1144Gly)	PTPN21, SPATA7 (R1144G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293825	NM_018418.5(SPATA7):c.544A>G (p.Ser182Gly)	SPATA7 (S182G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283964	NM_018418.5(SPATA7):c.596A>G (p.Tyr199Cys)	SPATA7 (Y199C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2267601	NM_007039.4(PTPN21):c.3268C>T (p.His1090Tyr)	PTPN21, SPATA7 (H1090Y)	Single nucleotide variant (missense variant)	not specified	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

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