"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "SPATA7" - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 645863	NC_000014.8:g.(?_88852143)_(89343774_?)dup	EML5, LOC129390658 +13 more	Duplication	Bardet-Biedl syndrome	GUncertain significance
Select item 844972	NM_018418.5(SPATA7):c.3G>A (p.Met1Ile)	LOC130056226, SPATA7 (M1I)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 3 +2 more	GConflicting classifications of pathogenicity
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 95907	NM_018418.5(SPATA7):c.4G>A (p.Asp2Asn)	SPATA7, LOC130056226 (D2N)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 3 +4 more	GBenign
Select item 1058010	NM_018418.5(SPATA7):c.10A>C (p.Ser4Arg)	LOC130056226, SPATA7 (S4R)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 3	GUncertain significance
Select item 1609566	NM_018418.5(SPATA7):c.12C>T (p.Ser4=)	LOC130056226, SPATA7	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 3	GLikely benign
Select item 1384034	NM_018418.5(SPATA7):c.13C>T (p.Arg5Trp)	LOC130056226, SPATA7 (R5W)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 3	GUncertain significance
Select item 1494343	NM_018418.5(SPATA7):c.19G>C (p.Val7Leu)	LOC130056226, SPATA7 (V7L)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 3	GUncertain significance
Select item 560510	NM_018418.5(SPATA7):c.19G>T (p.Val7Phe)	LOC130056226, SPATA7 (V7F)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 3	GUncertain significance
Select item 1686226	NM_018418.5(SPATA7):c.19+2T>A	LOC130056226, SPATA7	Single nucleotide variant (splice donor variant)	Leber congenital amaurosis 3	GPathogenic
Select item 766822	NM_018418.5(SPATA7):c.19+7G>A	LOC130056226, SPATA7	Single nucleotide variant (intron variant)	Retinitis pigmentosa +1 more	GConflicting classifications of pathogenicity
Select item 1158827	NM_018418.5(SPATA7):c.19+11G>A	LOC130056226, SPATA7	Single nucleotide variant (intron variant)	Leber congenital amaurosis 3	GLikely benign
Select item 2085471	NM_018418.5(SPATA7):c.20-12del	SPATA7	Deletion (intron variant)	Leber congenital amaurosis 3	GBenign
Select item 1170459	NM_018418.5(SPATA7):c.20-19T>G	SPATA7	Single nucleotide variant (intron variant)	Leber congenital amaurosis 3 +1 more	GBenign
Select item 1664816	NM_018418.5(SPATA7):c.20-18_20-17insC	SPATA7	Insertion (intron variant)	Leber congenital amaurosis 3	GLikely benign
Select item 1664817	NM_018418.5(SPATA7):c.20-12T>C	SPATA7	Single nucleotide variant (intron variant)	Leber congenital amaurosis 3	GLikely benign
Select item 1635308	NM_018418.5(SPATA7):c.20-9T>C	SPATA7	Single nucleotide variant (intron variant)	Leber congenital amaurosis 3	GLikely benign
Select item 1585085	NM_018418.5(SPATA7):c.20-8G>T	SPATA7	Single nucleotide variant (intron variant)	Leber congenital amaurosis 3	GLikely benign
Select item 143153	NM_018418.5(SPATA7):c.20_23delTCAG	SPATA7	Deletion (splice acceptor variant)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 941590	NM_018418.5(SPATA7):c.20-1G>A	SPATA7	Single nucleotide variant (splice acceptor variant)	Leber congenital amaurosis 3	GLikely pathogenic
Select item 1425565	NM_018418.5(SPATA7):c.34G>A (p.Val12Ile)	SPATA7 (V12I)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 3	GUncertain significance
Select item 1134370	NM_018418.5(SPATA7):c.36C>G (p.Val12=)	SPATA7	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 3	GLikely benign
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 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 1343691	NM_018418.5(SPATA7):c.55C>G (p.Pro19Ala)	SPATA7 (P19A)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 3 +1 more	GUncertain significance
Select item 719794	NM_018418.5(SPATA7):c.57G>A (p.Pro19=)	SPATA7	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 314775	NM_018418.5(SPATA7):c.57G>T (p.Pro19=)	SPATA7	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +1 more	GConflicting classifications of pathogenicity
Select item 1630492	NM_018418.5(SPATA7):c.61C>T (p.Leu21=)	SPATA7	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 3	GLikely benign
Select item 959162	NM_018418.5(SPATA7):c.75C>G (p.His25Gln)	SPATA7 (H25Q)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 3 +1 more	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 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 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 1038871	NM_018418.5(SPATA7):c.93T>A (p.Asn31Lys)	SPATA7 (N31K)	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 2008232	NM_018418.5(SPATA7):c.94+5G>T	SPATA7	Single nucleotide variant (intron variant)	Leber congenital amaurosis 3	GUncertain significance
Select item 1654450	NM_018418.5(SPATA7):c.94+6dup	SPATA7	Duplication (intron variant)	Leber congenital amaurosis 3	GLikely benign
Select item 1393660	NM_018418.5(SPATA7):c.94+5G>A	SPATA7	Single nucleotide variant (intron variant)	not specified +1 more	GUncertain significance
Select item 1895980	NM_018418.5(SPATA7):c.94+6T>G	SPATA7	Single nucleotide variant (intron variant)	Leber congenital amaurosis 3	GUncertain significance
Select item 1111300	NM_018418.5(SPATA7):c.94+8A>G	SPATA7	Single nucleotide variant (intron 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 1168491	NM_018418.5(SPATA7):c.94+20C>T	SPATA7	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1544328	NM_018418.5(SPATA7):c.95-19A>G	SPATA7	Single nucleotide variant (intron 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 969174	NM_018418.5(SPATA7):c.103A>G (p.Thr35Ala)	SPATA7 (T35A)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 3	GUncertain significance
Select item 497357	NM_018418.5(SPATA7):c.115_119del (p.Ser39fs)	SPATA7 (S39fs)	Deletion (frameshift variant +1 more)	Leber congenital amaurosis 3 +1 more	GPathogenic
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 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 1375814	NM_018418.5(SPATA7):c.157G>A (p.Ala53Thr)	SPATA7 (A53T)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 3	GUncertain significance
Select item 958818	NM_018418.5(SPATA7):c.163C>T (p.His55Tyr)	SPATA7 (H55Y)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 3 +1 more	GUncertain significance
Select item 1112997	NM_018418.5(SPATA7):c.177C>T (p.Ile59=)	SPATA7	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 3	GLikely benign
Select item 1479510	NM_018418.5(SPATA7):c.190+3A>G	SPATA7	Single nucleotide variant (intron 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 2940245	NM_018418.5(SPATA7):c.190+12C>A	SPATA7	Single nucleotide variant (intron variant)	Leber congenital amaurosis 3	GLikely benign
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 1169436	NM_018418.5(SPATA7):c.190+16T>C	SPATA7	Single nucleotide variant (intron variant)	Leber congenital amaurosis 3	GBenign
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 314776	NM_018418.5(SPATA7):c.191-14C>A	SPATA7	Single nucleotide variant (intron variant)	Retinitis pigmentosa +2 more	GBenign
Select item 1417420	NM_018418.5(SPATA7):c.194C>T (p.Ala65Val)	SPATA7 (A33V +1 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 3	GUncertain significance
Select item 1418779	NM_018418.5(SPATA7):c.196G>A (p.Val66Ile)	SPATA7 (V34I +1 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 3 +1 more	GUncertain significance
Select item 1392079	NM_018418.5(SPATA7):c.206C>T (p.Ser69Leu)	SPATA7 (S37L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 314777	NM_018418.5(SPATA7):c.207G>A (p.Ser69=)	SPATA7	Single nucleotide variant (synonymous variant)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 1489834	NM_018418.5(SPATA7):c.212C>T (p.Pro71Leu)	SPATA7 (P71L +1 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 3	GUncertain significance
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 286866	NM_018418.5(SPATA7):c.220G>A (p.Val74Met)	SPATA7 (V74M +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign
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 1043714	NM_018418.5(SPATA7):c.238+2dup	SPATA7	Duplication (splice donor variant)	Leber congenital amaurosis 3	GUncertain significance
Select item 1156410	NM_018418.5(SPATA7):c.238+7A>G	SPATA7	Single nucleotide variant (intron 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 2072903	NM_018418.5(SPATA7):c.239-10dup	SPATA7	Duplication (intron variant)	Leber congenital amaurosis 3	GBenign
Select item 1606857	NM_018418.5(SPATA7):c.239-14G>T	SPATA7	Single nucleotide variant (intron variant)	Leber congenital amaurosis 3	GLikely benign
Select item 1641717	NM_018418.5(SPATA7):c.243A>G (p.Ala81=)	SPATA7	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 3	GLikely benign
Select item 886634	NM_018418.5(SPATA7):c.245A>G (p.Asp82Gly)	SPATA7 (D50G +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +2 more	GUncertain significance
Select item 721747	NM_018418.5(SPATA7):c.249A>G (p.Gln83=)	SPATA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1131961	NM_018418.5(SPATA7):c.252A>G (p.Gln84=)	SPATA7	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 3	GLikely benign
Select item 1014980	NM_018418.5(SPATA7):c.253C>G (p.Arg85Gly)	SPATA7 (R53G +1 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 3	GUncertain significance
Select item 30806	NM_018418.5(SPATA7):c.253C>T (p.Arg85Ter)	SPATA7 (R85* +1 more)	Single nucleotide variant (nonsense)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 849891	NM_018418.5(SPATA7):c.254G>A (p.Arg85Gln)	SPATA7 (R53Q +1 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 3 +1 more	GUncertain significance
Select item 1058097	NM_018418.5(SPATA7):c.256A>G (p.Arg86Gly)	SPATA7 (R54G +1 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 3	GUncertain significance
Select item 1076482	NM_018418.5(SPATA7):c.265_268del (p.Leu89fs)	SPATA7 (L57fs +1 more)	Deletion (frameshift variant)	Leber congenital amaurosis +1 more	GPathogenic
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 853414	NM_018418.5(SPATA7):c.283_284delinsAG (p.Gln95Arg)	SPATA7 (Q63R +1 more)	Indel (missense variant)	Leber congenital amaurosis 3	GLikely benign
Select item 314778	NM_018418.5(SPATA7):c.284A>G (p.Gln95Arg)	SPATA7 (Q95R +1 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 3 +3 more	GBenign/Likely benign
Select item 191050	NM_018418.5(SPATA7):c.288T>A (p.Cys96Ter)	SPATA7 (C96* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1045517	NM_018418.5(SPATA7):c.296A>T (p.Glu99Val)	SPATA7 (E67V +1 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 3	GUncertain significance
Select item 1390757	NM_018418.5(SPATA7):c.310A>G (p.Lys104Glu)	SPATA7 (K72E +1 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 3	GUncertain significance
Select item 1364872	NM_018418.5(SPATA7):c.311A>G (p.Lys104Arg)	SPATA7 (K104R +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 1007832	NM_018418.5(SPATA7):c.314C>A (p.Thr105Asn)	SPATA7 (T105N +1 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 3	GUncertain significance
Select item 1018667	NM_018418.5(SPATA7):c.316G>A (p.Ala106Thr)	SPATA7 (A106T +1 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 3	GUncertain significance
Select item 1437474	NM_018418.5(SPATA7):c.319A>G (p.Met107Val)	SPATA7 (M107V +1 more)	Single nucleotide variant (missense 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 1395	NM_018418.5(SPATA7):c.322C>T (p.Arg108Ter)	SPATA7 (R108* +1 more)	Single nucleotide variant (nonsense)	SPATA7-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 1057909	NM_018418.5(SPATA7):c.323G>A (p.Arg108Gln)	SPATA7 (R108Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1519113	NM_018418.5(SPATA7):c.325G>A (p.Ala109Thr)	SPATA7 (A77T +1 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 3	GUncertain significance
Select item 855468	NM_018418.5(SPATA7):c.343T>A (p.Ser115Thr)	SPATA7 (S83T +1 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 3 +1 more	GUncertain significance
Select item 1609348	NM_018418.5(SPATA7):c.345C>G (p.Ser115=)	SPATA7	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 3	GLikely benign
Select item 1168470	NM_018418.5(SPATA7):c.345C>T (p.Ser115=)	SPATA7	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 3	GBenign
Select item 314779	NM_018418.5(SPATA7):c.357T>G (p.Phe119Leu)	SPATA7 (F119L +1 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 3 +3 more	GBenign/Likely benign
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 197835	NM_018418.5(SPATA7):c.364T>A (p.Leu122Ile)	SPATA7 (L122I +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 197836	NM_018418.5(SPATA7):c.366A>T (p.Leu122Phe)	SPATA7 (L122F +1 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 3 +2 more	GBenign/Likely benign

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