"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "SEC63"[ - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 354889	NM_007214.5(SEC63):c.2205G>C (p.Gly735=)	SEC63	Single nucleotide variant (synonymous variant)	Polycystic liver disease 2 +1 more	GBenign/Likely benign
Select item 2083965	NM_007214.5(SEC63):c.2197A>G (p.Ile733Val)	SEC63 (I733V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1534872	NM_007214.5(SEC63):c.2140-20C>A	SEC63	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 354890	NM_007214.5(SEC63):c.2134T>C (p.Leu712=)	SEC63	Single nucleotide variant (synonymous variant)	Polycystic liver disease 2 +1 more	GBenign
Select item 3001825	NM_007214.5(SEC63):c.2074_2075insTATACTGTGTTTCTGAG (p.Tyr692fs)	SEC63 (Y692fs)	Insertion (frameshift variant)	not provided	GUncertain significance
Select item 2967400	NM_007214.5(SEC63):c.2072A>T (p.Asn691Ile)	SEC63 (N691I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2710443	NM_007214.5(SEC63):c.2056C>G (p.Pro686Ala)	SEC63 (P686A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2100959	NM_007214.5(SEC63):c.2035-14A>C	SEC63	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 354891	NM_007214.5(SEC63):c.2034+10A>G	SEC63	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2026322	NM_007214.5(SEC63):c.2031G>A (p.Glu677=)	SEC63	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1654635	NM_007214.5(SEC63):c.2028A>G (p.Thr676=)	SEC63	Single nucleotide variant (synonymous variant)	Polycystic liver disease 2 +1 more	GLikely benign
Select item 260153	NM_007214.5(SEC63):c.2027C>T (p.Thr676Ile)	SEC63 (T676I)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 906564	NM_007214.5(SEC63):c.2025T>A (p.Asp675Glu)	SEC63 (D675E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2144036	NM_007214.5(SEC63):c.2016G>A (p.Thr672=)	SEC63	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3022182	NM_007214.5(SEC63):c.2013T>C (p.Cys671=)	SEC63	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2878862	NM_007214.5(SEC63):c.2008G>A (p.Val670Met)	SEC63 (V670M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 906565	NM_007214.5(SEC63):c.1984A>G (p.Thr662Ala)	SEC63 (T662A)	Single nucleotide variant (missense variant)	Polycystic liver disease 2 +1 more	GBenign/Likely benign
Select item 1669598	NM_007214.5(SEC63):c.1941A>G (p.Lys647=)	SEC63	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1984299	NM_007214.5(SEC63):c.1936-5T>G	SEC63	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1285084	NM_007214.5(SEC63):c.1936-27_1936-25dup	SEC63	Duplication (intron variant)	Polycystic liver disease 2 +1 more	GBenign/Likely benign
Select item 988126	NM_007214.5(SEC63):c.1936-8G>T	SEC63	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 354898	NM_007214.5(SEC63):c.1936-27_1936-26dup	SEC63	Duplication (intron variant)	Polycystic liver disease 1 +1 more	GConflicting classifications of pathogenicity
Select item 2013984	NM_007214.5(SEC63):c.1936-17_1936-9del	SEC63	Deletion (intron variant)	not provided	GLikely benign
Select item 768106	NM_007214.5(SEC63):c.1936-11_1936-9del	SEC63	Deletion (intron variant)	Polycystic liver disease 2 +1 more	GBenign/Likely benign
Select item 1905444	NM_007214.5(SEC63):c.1935+13C>T	SEC63	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 755540	NM_007214.5(SEC63):c.1909C>T (p.Pro637Ser)	SEC63 (P637S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 726395	NM_007214.5(SEC63):c.1882T>C (p.Leu628=)	SEC63	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2194728	NM_007214.5(SEC63):c.1881A>G (p.Leu627=)	SEC63	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3012770	NM_007214.5(SEC63):c.1877C>T (p.Ala626Val)	SEC63 (A626V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1899594	NM_007214.5(SEC63):c.1854A>G (p.Gln618=)	SEC63	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1910441	NM_007214.5(SEC63):c.1834-6T>C	SEC63	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1959654	NM_007214.5(SEC63):c.1834-10dup	SEC63	Duplication (intron variant)	not provided	GBenign
Select item 2982969	NM_007214.5(SEC63):c.1819A>G (p.Lys607Glu)	SEC63 (K607E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 794703	NM_007214.5(SEC63):c.1776T>A (p.Gly592=)	SEC63	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 354899	NM_007214.5(SEC63):c.1697AAG[2] (p.Glu568del)	SEC63 (E568del)	Microsatellite (inframe_deletion)	Polycystic liver disease 1 +1 more	GConflicting classifications of pathogenicity
Select item 2069394	NM_007214.5(SEC63):c.1675-3del	SEC63	Deletion (intron variant)	not provided	GBenign
Select item 1540039	NM_007214.5(SEC63):c.1675-9C>G	SEC63	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2881686	NM_007214.5(SEC63):c.1675-20T>C	SEC63	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1905934	NM_007214.5(SEC63):c.1674+17C>T	SEC63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 354901	NM_007214.5(SEC63):c.1674T>C (p.Asn558=)	SEC63	Single nucleotide variant (synonymous variant)	Polycystic liver disease 2 +1 more	GBenign
Select item 2800998	NM_007214.5(SEC63):c.1673A>C (p.Asn558Thr)	SEC63 (N558T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 354902	NM_007214.5(SEC63):c.1666G>A (p.Val556Ile)	SEC63 (V556I)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2823057	NM_007214.5(SEC63):c.1613_1627del (p.Pro538_Pro542del)	SEC63	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 354903	NM_007214.5(SEC63):c.1625_1626insTAC (p.Pro542_Gln543insThr)	SEC63	Insertion (inframe_insertion)	Polycystic liver disease 1 +1 more	GConflicting classifications of pathogenicity
Select item 2310231	NM_007214.5(SEC63):c.1605A>C (p.Lys535Asn)	SEC63 (K535N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1425756	NM_007214.5(SEC63):c.1596A>T (p.Leu532Phe)	SEC63 (L532F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3001418	NM_007214.5(SEC63):c.1591C>T (p.Pro531Ser)	SEC63 (P531S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2797117	NM_007214.5(SEC63):c.1501-11A>G	SEC63	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1468853	NM_007214.5(SEC63):c.1469G>A (p.Cys490Tyr)	SEC63 (C490Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2896800	NM_007214.5(SEC63):c.1458G>A (p.Glu486=)	SEC63	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 786096	NM_007214.5(SEC63):c.1441-4C>G	SEC63	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2997380	NM_007214.5(SEC63):c.1440+16G>A	SEC63	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2109167	NM_007214.5(SEC63):c.1440+16G>C	SEC63	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2701771	NM_007214.5(SEC63):c.1410G>C (p.Val470=)	SEC63	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1956728	NM_007214.5(SEC63):c.1337C>T (p.Thr446Ile)	SEC63 (T446I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1358930	NM_007214.5(SEC63):c.1329A>G (p.Pro443=)	SEC63	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2072849	NM_007214.5(SEC63):c.1323T>C (p.Ser441=)	SEC63	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 354905	NM_007214.5(SEC63):c.1278C>T (p.Phe426=)	SEC63	Single nucleotide variant (synonymous variant)	Polycystic liver disease 2 +1 more	GBenign/Likely benign
Select item 1502326	NM_007214.5(SEC63):c.1261C>G (p.His421Asp)	SEC63 (H421D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1936914	NM_007214.5(SEC63):c.1225A>C (p.Ile409Leu)	SEC63 (I409L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1234404	NM_007214.5(SEC63):c.1210-18dup	SEC63	Duplication (intron variant)	not provided +1 more	GBenign
Select item 770364	NM_007214.5(SEC63):c.1210-6A>T	SEC63	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 713822	NM_007214.5(SEC63):c.1210-7T>A	SEC63	Single nucleotide variant (intron variant)	Polycystic liver disease 2 +1 more	GLikely benign
Select item 354906	NM_007214.5(SEC63):c.1210-7del	SEC63	Deletion (intron variant)	Polycystic liver disease 1 +1 more	GConflicting classifications of pathogenicity
Select item 1448518	NM_007214.5(SEC63):c.1188_1191dup (p.Val398fs)	SEC63 (V398fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2187796	NM_007214.5(SEC63):c.1191G>A (p.Arg397=)	SEC63	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2075704	NM_007214.5(SEC63):c.1184T>C (p.Leu395Pro)	SEC63 (L395P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1929745	NM_007214.5(SEC63):c.1178A>T (p.Asp393Val)	SEC63 (D393V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 354907	NM_007214.5(SEC63):c.1176G>A (p.Glu392=)	SEC63	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2175694	NM_007214.5(SEC63):c.1170T>C (p.Ile390=)	SEC63	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1922427	NM_007214.5(SEC63):c.1166A>T (p.His389Leu)	SEC63 (H389L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 729413	NM_007214.5(SEC63):c.1120G>A (p.Val374Ile)	SEC63 (V374I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2050280	NM_007214.5(SEC63):c.1111C>T (p.Gln371Ter)	SEC63 (Q371*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1896436	NM_007214.5(SEC63):c.1054+12A>G	SEC63	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1945120	NM_007214.5(SEC63):c.1052_1053insGGTGGAAATAT (p.Glu352fs)	SEC63 (E352fs)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 2076003	NM_007214.5(SEC63):c.1043G>A (p.Arg348Gln)	SEC63 (R348Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1617567	NM_007214.5(SEC63):c.1027C>T (p.Leu343=)	SEC63	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1921711	NM_007214.5(SEC63):c.1013A>G (p.Asn338Ser)	SEC63 (N338S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1909722	NM_007214.5(SEC63):c.983A>T (p.Lys328Met)	SEC63 (K328M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1429687	NM_007214.5(SEC63):c.976C>G (p.Leu326Val)	SEC63 (L326V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1573643	NM_007214.5(SEC63):c.961+14C>T	SEC63	Single nucleotide variant (intron variant)	Polycystic liver disease 2 +1 more	GBenign/Likely benign
Select item 2999906	NM_007214.5(SEC63):c.950C>G (p.Thr317Ser)	SEC63 (T317S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1928843	NM_007214.5(SEC63):c.904A>G (p.Arg302Gly)	SEC63 (R302G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2170437	NM_007214.5(SEC63):c.890A>G (p.Tyr297Cys)	SEC63 (Y297C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2806826	NM_007214.5(SEC63):c.870G>A (p.Glu290=)	SEC63	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980543	NM_007214.5(SEC63):c.829-14T>G	SEC63	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1990450	NM_007214.5(SEC63):c.829-18T>C	SEC63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 354910	NM_007214.5(SEC63):c.807G>A (p.Thr269=)	SEC63	Single nucleotide variant (synonymous variant)	Polycystic liver disease 2 +1 more	GBenign/Likely benign
Select item 2978704	NM_007214.5(SEC63):c.777G>T (p.Gln259His)	SEC63 (Q259H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2079995	NM_007214.5(SEC63):c.735T>C (p.Arg245=)	SEC63	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1618471	NM_007214.5(SEC63):c.734-5G>A	SEC63	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2828543	NM_007214.5(SEC63):c.734-6del	SEC63	Deletion (intron variant)	not provided	GBenign
Select item 1945279	NM_007214.5(SEC63):c.734-15C>G	SEC63	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2120263	NM_007214.5(SEC63):c.733+8A>T	SEC63	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2012311	NM_007214.5(SEC63):c.704T>C (p.Val235Ala)	SEC63 (V235A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2977452	NM_007214.5(SEC63):c.681A>G (p.Thr227=)	SEC63	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2734923	NM_007214.5(SEC63):c.649C>T (p.Arg217Cys)	SEC63 (R217C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2010941	NM_007214.5(SEC63):c.625-2A>G	SEC63	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 3002534	NM_007214.5(SEC63):c.574-6T>C	SEC63	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1634265	NM_007214.5(SEC63):c.574-20C>G	SEC63	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign

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