C3553494[trait identifier] AND "Labcorp Genetics (formerly Invitae), L - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 214064	NM_018238.4(AGK):c.17A>G (p.Lys6Arg)	AGK (K6R)	Single nucleotide variant (missense variant)	Sengers syndrome +2 more	GBenign/Likely benign
Select item 2931348	NM_018238.4(AGK):c.25C>T (p.Arg9Ter)	AGK (R9*)	Single nucleotide variant (nonsense)	Sengers syndrome +1 more	GPathogenic
Select item 1914862	NM_018238.4(AGK):c.26G>C (p.Arg9Pro)	AGK (R9P)	Single nucleotide variant (missense variant)	Sengers syndrome +1 more	GUncertain significance
Select item 703559	NM_018238.4(AGK):c.26G>A (p.Arg9Gln)	AGK (R9Q)	Single nucleotide variant (missense variant)	Cataract 38 +1 more	GConflicting classifications of pathogenicity
Select item 214077	NM_018238.4(AGK):c.29A>G (p.Asn10Ser)	AGK (N10S)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2929027	NM_018238.4(AGK):c.42A>G (p.Lys14=)	AGK	Single nucleotide variant (synonymous variant)	Sengers syndrome +1 more	GUncertain significance
Select item 909780	NM_018238.4(AGK):c.55C>T (p.Leu19Phe)	AGK (L19F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1571111	NM_018238.4(AGK):c.63G>C (p.Leu21=)	AGK	Single nucleotide variant (synonymous variant)	Sengers syndrome +1 more	GLikely benign
Select item 2160398	NM_018238.4(AGK):c.80A>G (p.His27Arg)	AGK (H27R)	Single nucleotide variant (missense variant)	Sengers syndrome +1 more	GUncertain significance
Select item 2142050	NM_018238.4(AGK):c.80A>C (p.His27Pro)	AGK (H27P)	Single nucleotide variant (missense variant)	Cataract 38 +1 more	GUncertain significance
Select item 2414173	NM_018238.4(AGK):c.101+4_101+7dup	AGK	Duplication (splice donor variant)	Sengers syndrome +1 more	GLikely benign
Select item 136318	NM_018238.4(AGK):c.101+5C>T	AGK	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1175770	NM_018238.4(AGK):c.101+7A>C	AGK	Single nucleotide variant (intron variant)	Sengers syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2936706	NM_018238.4(AGK):c.101+13C>G	AGK	Single nucleotide variant (intron variant)	Sengers syndrome +1 more	GLikely benign
Select item 2003013	NM_018238.4(AGK):c.141+16del	AGK	Deletion (intron variant)	Cataract 38 +1 more	GLikely benign
Select item 2197899	NM_018238.4(AGK):c.142-18T>G	AGK	Single nucleotide variant (intron variant)	Sengers syndrome +1 more	GLikely benign
Select item 2197747	NM_018238.4(AGK):c.142-14C>G	AGK	Single nucleotide variant (intron variant)	Sengers syndrome +1 more	GLikely benign
Select item 2947033	NM_018238.4(AGK):c.142-10del	AGK	Deletion (intron variant)	Sengers syndrome +1 more	GBenign
Select item 1650411	NM_018238.4(AGK):c.142-11T>C	AGK	Single nucleotide variant (intron variant)	Sengers syndrome +1 more	GLikely benign
Select item 2925153	NM_018238.4(AGK):c.142-8T>A	AGK	Single nucleotide variant (intron variant)	Sengers syndrome +1 more	GLikely benign
Select item 2159007	NM_018238.4(AGK):c.142-4T>C	AGK	Single nucleotide variant (intron variant)	Cataract 38 +1 more	GLikely benign
Select item 1973711	NM_018238.4(AGK):c.145T>G (p.Phe49Val)	AGK (F49V)	Single nucleotide variant (missense variant)	Sengers syndrome +1 more	GUncertain significance
Select item 1717273	NM_018238.4(AGK):c.173C>T (p.Ala58Val)	AGK (A58V)	Single nucleotide variant (missense variant)	Sengers syndrome +1 more	GUncertain significance
Select item 2154530	NM_018238.4(AGK):c.174A>G (p.Ala58=)	AGK	Single nucleotide variant (synonymous variant)	Cataract 38 +1 more	GLikely benign
Select item 1903054	NM_018238.4(AGK):c.190A>G (p.Thr64Ala)	AGK (T64A)	Single nucleotide variant (missense variant)	Sengers syndrome +1 more	GUncertain significance
Select item 1513513	NM_018238.4(AGK):c.203A>G (p.Asn68Ser)	AGK (N68S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1963122	NM_018238.4(AGK):c.212C>T (p.Ala71Val)	AGK (A71V)	Single nucleotide variant (missense variant)	Cataract 38 +1 more	GUncertain significance
Select item 1461965	NM_018238.4(AGK):c.221+9G>A	AGK	Single nucleotide variant (intron variant)	Cataract 38 +1 more	GLikely benign
Select item 2926189	NM_018238.4(AGK):c.221+13G>A	AGK	Single nucleotide variant (intron variant)	Sengers syndrome +1 more	GLikely benign
Select item 2424641	NM_018238.4(AGK):c.222-20A>G	AGK	Single nucleotide variant (intron variant)	Sengers syndrome +1 more	GLikely benign
Select item 1593735	NM_018238.4(AGK):c.222-13C>T	AGK	Single nucleotide variant (intron variant)	Cataract 38 +1 more	GLikely benign
Select item 2101669	NM_018238.4(AGK):c.222-3C>G	AGK	Single nucleotide variant (intron variant)	Cataract 38 +1 more	GUncertain significance
Select item 2934602	NM_018238.4(AGK):c.237A>G (p.Leu79=)	AGK	Single nucleotide variant (synonymous variant)	Sengers syndrome +1 more	GLikely benign
Select item 2141788	NM_018238.4(AGK):c.241G>A (p.Glu81Lys)	AGK (E81K)	Single nucleotide variant (missense variant)	Cataract 38 +1 more	GUncertain significance
Select item 706412	NM_018238.4(AGK):c.243A>G (p.Glu81=)	AGK	Single nucleotide variant (synonymous variant)	Cataract 38 +1 more	GLikely benign
Select item 2929186	NM_018238.4(AGK):c.257C>T (p.Pro86Leu)	AGK (P86L)	Single nucleotide variant (missense variant)	Sengers syndrome +1 more	GUncertain significance
Select item 535810	NM_018238.4(AGK):c.257C>G (p.Pro86Arg)	AGK (P86R)	Single nucleotide variant (missense variant)	Sengers syndrome +1 more	GUncertain significance
Select item 2178888	NM_018238.4(AGK):c.267T>C (p.His89=)	AGK	Single nucleotide variant (synonymous variant)	Sengers syndrome +1 more	GLikely benign
Select item 2010322	NM_018238.4(AGK):c.287C>T (p.Thr96Ile)	AGK (T96I)	Single nucleotide variant (missense variant)	Cataract 38 +1 more	GUncertain significance
Select item 2044310	NM_018238.4(AGK):c.289A>G (p.Ile97Val)	AGK (I97V)	Single nucleotide variant (missense variant)	Sengers syndrome +1 more	GUncertain significance
Select item 429694	NM_018238.4(AGK):c.297+2T>C	AGK	Single nucleotide variant (splice donor variant)	Cataract 38 +2 more	GPathogenic
Select item 910681	NM_018238.4(AGK):c.297+3A>G	AGK	Single nucleotide variant (intron variant)	Sengers syndrome +1 more	GUncertain significance
Select item 377452	NM_018238.4(AGK):c.297+18A>G	AGK	Single nucleotide variant (intron variant)	Sengers syndrome +2 more	GBenign/Likely benign
Select item 2936319	NM_018238.4(AGK):c.298-18G>A	AGK	Single nucleotide variant (intron variant)	Sengers syndrome +1 more	GLikely benign
Select item 2037289	NM_018238.4(AGK):c.298-18G>C	AGK	Single nucleotide variant (intron variant)	Sengers syndrome +1 more	GLikely benign
Select item 1920846	NM_018238.4(AGK):c.298-18G>T	AGK	Single nucleotide variant (intron variant)	Sengers syndrome +1 more	GLikely benign
Select item 512456	NM_018238.4(AGK):c.327C>T (p.Leu109=)	AGK	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 2172934	NM_018238.4(AGK):c.331G>A (p.Glu111Lys)	AGK (E111K)	Single nucleotide variant (missense variant)	Sengers syndrome +1 more	GUncertain significance
Select item 389396	NM_018238.4(AGK):c.331G>C (p.Glu111Gln)	AGK (E111Q)	Single nucleotide variant (missense variant)	Cataract 38 +3 more	GUncertain significance
Select item 2072573	NM_018238.4(AGK):c.343A>C (p.Asn115His)	AGK (N115H)	Single nucleotide variant (missense variant)	Cataract 38 +1 more	GUncertain significance
Select item 2154522	NM_018238.4(AGK):c.352G>A (p.Val118Met)	AGK (V118M)	Single nucleotide variant (missense variant)	Cataract 38 +1 more	GUncertain significance
Select item 2921399	NM_018238.4(AGK):c.356dup (p.Ile120fs)	AGK (I120fs)	Duplication (frameshift variant)	Cataract 38 +1 more	GPathogenic
Select item 2947480	NM_018238.4(AGK):c.388G>T (p.Glu130Ter)	AGK (E130*)	Single nucleotide variant (nonsense)	Sengers syndrome +1 more	GPathogenic
Select item 1592711	NM_018238.4(AGK):c.391-13A>G	AGK	Single nucleotide variant (intron variant)	Cataract 38 +1 more	GLikely benign
Select item 2088824	NM_018238.4(AGK):c.391-9C>G	AGK	Single nucleotide variant (intron variant)	Sengers syndrome +1 more	GUncertain significance
Select item 2110273	NM_018238.4(AGK):c.391-6T>C	AGK	Single nucleotide variant (intron variant)	Sengers syndrome +1 more	GLikely benign
Select item 2935956	NM_018238.4(AGK):c.396T>C (p.Val132=)	AGK	Single nucleotide variant (synonymous variant)	Sengers syndrome +1 more	GLikely benign
Select item 1401384	NM_018238.4(AGK):c.401G>A (p.Gly134Asp)	AGK (G134D)	Single nucleotide variant (missense variant)	Cataract 38 +1 more	GUncertain significance
Select item 2952828	NM_018238.4(AGK):c.409del (p.Arg137fs)	AGK (R137fs)	Deletion (frameshift variant)	Cataract 38 +1 more	GPathogenic
Select item 209130	NM_018238.4(AGK):c.409C>T (p.Arg137Ter)	AGK (R137*)	Single nucleotide variant (nonsense)	Sengers syndrome +3 more	GPathogenic
Select item 949435	NM_018238.4(AGK):c.410G>A (p.Arg137Gln)	AGK (R137Q)	Single nucleotide variant (missense variant)	Sengers syndrome +1 more	GUncertain significance
Select item 2937490	NM_018238.4(AGK):c.411A>T (p.Arg137=)	AGK	Single nucleotide variant (synonymous variant)	Sengers syndrome +1 more	GLikely benign
Select item 1351396	NM_018238.4(AGK):c.412C>T (p.Arg138Ter)	AGK (R138*)	Single nucleotide variant (nonsense)	Cataract 38 +2 more	GPathogenic
Select item 467794	NM_018238.4(AGK):c.416C>G (p.Thr139Arg)	AGK (T139R)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 2016685	NM_018238.4(AGK):c.420T>G (p.Asp140Glu)	AGK (D140E)	Single nucleotide variant (missense variant)	Sengers syndrome +1 more	GUncertain significance
Select item 2128329	NM_018238.4(AGK):c.423+19T>C	AGK	Single nucleotide variant (intron variant)	Sengers syndrome +1 more	GLikely benign
Select item 2925210	NM_018238.4(AGK):c.424-14C>T	AGK	Single nucleotide variant (intron variant)	Sengers syndrome +1 more	GLikely benign
Select item 420477	NM_018238.4(AGK):c.424-3dup	AGK	Duplication (intron variant)	Sengers syndrome +2 more	GBenign
Select item 359056	NM_018238.4(AGK):c.424-11T>C	AGK	Single nucleotide variant (intron variant)	Cataract 38 +2 more	GConflicting classifications of pathogenicity
Select item 2049626	NM_018238.4(AGK):c.424-3del	AGK	Deletion (intron variant)	Cataract 38 +1 more	GBenign
Select item 1966531	NM_018238.4(AGK):c.424-8C>G	AGK	Single nucleotide variant (intron variant)	Sengers syndrome +1 more	GLikely benign
Select item 2932145	NM_018238.4(AGK):c.424-6C>T	AGK	Single nucleotide variant (intron variant)	Sengers syndrome +1 more	GLikely benign
Select item 2062657	NM_018238.4(AGK):c.424-6C>G	AGK	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1194271	NM_018238.4(AGK):c.424-5C>G	AGK	Single nucleotide variant (intron variant)	Sengers syndrome +2 more	GLikely benign
Select item 771287	NM_018238.4(AGK):c.424-5C>A	AGK	Single nucleotide variant (intron variant)	Sengers syndrome +1 more	GLikely benign
Select item 359057	NM_018238.4(AGK):c.424-5C>T	AGK	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 2936346	NM_018238.4(AGK):c.424-4C>T	AGK	Single nucleotide variant (intron variant)	Sengers syndrome +1 more	GLikely benign
Select item 703335	NM_018238.4(AGK):c.424-4C>A	AGK	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 359058	NM_018238.4(AGK):c.424-4C>G	AGK	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 2163703	NM_018238.4(AGK):c.424-3C>T	AGK	Single nucleotide variant (intron variant)	Sengers syndrome +1 more	GUncertain significance
Select item 2042518	NM_018238.4(AGK):c.424-3C>A	AGK	Single nucleotide variant (intron variant)	Sengers syndrome +1 more	GUncertain significance
Select item 1198422	NM_018238.4(AGK):c.445A>G (p.Ile149Val)	AGK (I149V)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2200142	NM_018238.4(AGK):c.446T>C (p.Ile149Thr)	AGK (I149T)	Single nucleotide variant (missense variant)	Sengers syndrome +1 more	GUncertain significance
Select item 2938300	NM_018238.4(AGK):c.462G>A (p.Leu154=)	AGK	Single nucleotide variant (synonymous variant)	Sengers syndrome +1 more	GLikely benign
Select item 1378989	NM_018238.4(AGK):c.472A>G (p.Ser158Gly)	AGK (S158G)	Single nucleotide variant (missense variant)	Sengers syndrome +1 more	GUncertain significance
Select item 1582454	NM_018238.4(AGK):c.492C>G (p.Leu164=)	AGK	Single nucleotide variant (synonymous variant)	Sengers syndrome +1 more	GLikely benign
Select item 2941370	NM_018238.4(AGK):c.495T>C (p.Phe165=)	AGK	Single nucleotide variant (synonymous variant)	Sengers syndrome +1 more	GLikely benign
Select item 381290	NM_018238.4(AGK):c.498C>T (p.Ala166=)	AGK	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 2938193	NM_018238.4(AGK):c.499G>A (p.Glu167Lys)	AGK (E167K)	Single nucleotide variant (missense variant)	Sengers syndrome +1 more	GUncertain significance
Select item 911913	NM_018238.4(AGK):c.511A>G (p.Lys171Glu)	AGK (K171E)	Single nucleotide variant (missense variant)	Sengers syndrome +1 more	GUncertain significance
Select item 214066	NM_018238.4(AGK):c.518+18G>A	AGK	Single nucleotide variant (intron variant)	Cataract 38 +2 more	GBenign
Select item 2947275	NM_018238.4(AGK):c.519-19A>G	AGK	Single nucleotide variant (intron variant)	Sengers syndrome +1 more	GLikely benign
Select item 798166	NM_018238.4(AGK):c.519-4_519-3del	AGK	Deletion (intron variant)	Sengers syndrome +2 more	GLikely benign
Select item 391661	NM_018238.4(AGK):c.519-5T>C	AGK	Single nucleotide variant (intron variant)	Cataract 38 +2 more	GLikely benign
Select item 2021993	NM_018238.4(AGK):c.519-2A>G	AGK	Single nucleotide variant (splice acceptor variant)	Sengers syndrome +1 more	GLikely pathogenic
Select item 2135115	NM_018238.4(AGK):c.519-1G>A	AGK	Single nucleotide variant (splice acceptor variant)	Cataract 38 +1 more	GLikely pathogenic
Select item 2931426	NM_018238.4(AGK):c.542C>A (p.Ala181Asp)	AGK (A181D)	Single nucleotide variant (missense variant)	Sengers syndrome +1 more	GUncertain significance
Select item 1395353	NM_018238.4(AGK):c.544A>C (p.Ile182Leu)	AGK (I182L)	Single nucleotide variant (missense variant)	Sengers syndrome +1 more	GUncertain significance
Select item 1419779	NM_018238.4(AGK):c.562G>A (p.Val188Ile)	AGK (V188I)	Single nucleotide variant (missense variant)	Sengers syndrome +1 more	GUncertain significance
Select item 2185960	NM_018238.4(AGK):c.573T>C (p.Asp191=)	AGK	Single nucleotide variant (synonymous variant)	Sengers syndrome +1 more	GLikely benign

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