"Invitae"[submitter] AND "EXPH5"[gene] - ClinVar

Search results

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 719499	NM_015065.3(EXPH5):c.5953A>G (p.Lys1985Glu)	EXPH5 (K1985E +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1285243	NM_015065.3(EXPH5):c.5922A>G (p.Thr1974=)	EXPH5	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2163089	NM_015065.3(EXPH5):c.5914A>G (p.Thr1972Ala)	EXPH5 (T1896A +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1665138	NM_015065.3(EXPH5):c.5899= (p.Asp1967=)	EXPH5	Variation (no sequence alteration)	not provided	GBenign
Select item 1451061	NM_015065.3(EXPH5):c.5864C>T (p.Pro1955Leu)	EXPH5 (P1948L +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 785381	NM_015065.3(EXPH5):c.5625G>A (p.Arg1875=)	EXPH5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 714777	NM_015065.3(EXPH5):c.5614A>G (p.Thr1872Ala)	EXPH5 (T1684A +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2712778	NM_015065.3(EXPH5):c.5564T>G (p.Leu1855Arg)	EXPH5 (L1779R +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 777652	NM_015065.3(EXPH5):c.5494C>G (p.Arg1832Gly)	EXPH5 (R1676G +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 730959	NM_015065.3(EXPH5):c.5453G>A (p.Arg1818His)	EXPH5 (R1630H +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1428801	NM_015065.3(EXPH5):c.5423G>A (p.Arg1808Gln)	EXPH5 (R1620Q +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1805039	NM_015065.3(EXPH5):c.5422C>T (p.Arg1808Ter)	EXPH5 (R1620* +4 more)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1360112	NM_015065.3(EXPH5):c.5366C>G (p.Pro1789Arg)	EXPH5 (P1601R +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1426801	NM_015065.3(EXPH5):c.5305C>G (p.Pro1769Ala)	EXPH5 (P1581A +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1535935	NM_015065.3(EXPH5):c.5213C>T (p.Thr1738Ile)	EXPH5 (T1550I +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 714054	NM_015065.3(EXPH5):c.5203A>T (p.Ile1735Phe)	EXPH5 (I1547F +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 710014	NM_015065.3(EXPH5):c.5116G>A (p.Val1706Ile)	EXPH5 (V1518I +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 787388	NM_015065.3(EXPH5):c.5059G>A (p.Val1687Ile)	EXPH5 (V1531I +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 790101	NM_015065.3(EXPH5):c.5056C>A (p.His1686Asn)	EXPH5 (H1498N +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2716569	NM_015065.3(EXPH5):c.5029G>C (p.Val1677Leu)	EXPH5 (V1489L +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1589109	NM_015065.3(EXPH5):c.5013C>T (p.Asn1671=)	EXPH5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1227267	NM_015065.3(EXPH5):c.4987G>A (p.Gly1663Arg)	EXPH5 (G1475R +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 790102	NM_015065.3(EXPH5):c.4984A>G (p.Asn1662Asp)	EXPH5 (N1506D +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1646727	NM_015065.3(EXPH5):c.4966G>A (p.Glu1656Lys)	EXPH5 (E1468K +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 790103	NM_015065.3(EXPH5):c.4906A>T (p.Thr1636Ser)	EXPH5 (T1480S +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 726980	NM_015065.3(EXPH5):c.4893T>C (p.His1631=)	EXPH5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2051058	NM_015065.3(EXPH5):c.4892A>G (p.His1631Arg)	EXPH5 (H1443R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 790104	NM_015065.3(EXPH5):c.4878A>G (p.Arg1626=)	EXPH5	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1506870	NM_015065.3(EXPH5):c.4861C>T (p.Pro1621Ser)	EXPH5 (P1614S +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 790105	NM_015065.3(EXPH5):c.4718A>T (p.Asn1573Ile)	EXPH5 (N1417I +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 726203	NM_015065.3(EXPH5):c.4644T>C (p.Asn1548=)	EXPH5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2727609	NM_015065.3(EXPH5):c.4642A>G (p.Asn1548Asp)	EXPH5 (N1360D +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1248929	NM_015065.3(EXPH5):c.4590A>G (p.Leu1530=)	EXPH5	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1484461	NM_015065.3(EXPH5):c.4556T>G (p.Leu1519Arg)	EXPH5 (L1512R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1374220	NM_015065.3(EXPH5):c.4391A>G (p.Gln1464Arg)	EXPH5 (Q1464R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 790106	NM_015065.3(EXPH5):c.4389C>T (p.Pro1463=)	EXPH5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1398808	NM_015065.3(EXPH5):c.4336G>A (p.Glu1446Lys)	EXPH5 (E1258K +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1384653	NM_015065.3(EXPH5):c.4215A>G (p.Val1405=)	EXPH5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2168780	NM_015065.3(EXPH5):c.4060G>C (p.Val1354Leu)	EXPH5 (V1198L +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 781234	NM_015065.3(EXPH5):c.4027A>G (p.Thr1343Ala)	EXPH5 (T1155A +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2139051	NM_015065.3(EXPH5):c.4015C>A (p.Pro1339Thr)	EXPH5 (P1151T +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1446573	NM_015065.3(EXPH5):c.4013G>T (p.Gly1338Val)	EXPH5 (G1182V +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 735022	NM_015065.3(EXPH5):c.3947T>C (p.Met1316Thr)	EXPH5 (M1128T +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1593279	NM_015065.3(EXPH5):c.3931T>C (p.Cys1311Arg)	EXPH5 (C1123R +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2063741	NM_015065.3(EXPH5):c.3859G>A (p.Glu1287Lys)	EXPH5 (E1099K +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 790654	NM_015065.3(EXPH5):c.3706T>G (p.Ser1236Ala)	EXPH5 (S1048A +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1943385	NM_015065.3(EXPH5):c.3519T>C (p.Cys1173=)	EXPH5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 770405	NM_015065.3(EXPH5):c.3441G>T (p.Met1147Ile)	EXPH5 (M1147I +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 790107	NM_015065.3(EXPH5):c.3440T>C (p.Met1147Thr)	EXPH5 (M1071T +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2715257	NM_015065.3(EXPH5):c.3400A>G (p.Thr1134Ala)	EXPH5 (T978A +4 more)	Single nucleotide variant (missense variant)	EXPH5-related condition +1 more	GLikely benign
Select item 2196782	NM_015065.3(EXPH5):c.3268C>G (p.Leu1090Val)	EXPH5 (L934V +4 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1388610	NM_015065.3(EXPH5):c.3198G>A (p.Met1066Ile)	EXPH5 (M878I +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1522772	NM_015065.3(EXPH5):c.2984C>T (p.Pro995Leu)	EXPH5 (P919L +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1599133	NM_015065.3(EXPH5):c.2967A>G (p.Thr989=)	EXPH5	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2741026	NM_015065.3(EXPH5):c.2826C>G (p.Asn942Lys)	EXPH5 (N754K +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1532812	NM_015065.3(EXPH5):c.2696T>C (p.Val899Ala)	EXPH5 (V711A +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1264655	NM_015065.3(EXPH5):c.2674A>T (p.Asn892Tyr)	EXPH5 (N704Y +4 more)	Single nucleotide variant (missense variant)	EXPH5-related condition +1 more	GBenign
Select item 1414859	NM_015065.3(EXPH5):c.2653C>T (p.Pro885Ser)	EXPH5 (P878S +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 740842	NM_015065.3(EXPH5):c.2619G>A (p.Ser873=)	EXPH5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1279241	NM_015065.3(EXPH5):c.2558T>C (p.Leu853Pro)	EXPH5 (L665P +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2040234	NM_015065.3(EXPH5):c.2433T>A (p.Pro811=)	EXPH5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1600526	NM_015065.3(EXPH5):c.2329G>A (p.Asp777Asn)	EXPH5 (D589N +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1570375	NM_015065.3(EXPH5):c.2213C>G (p.Ser738Cys)	EXPH5 (S550C +4 more)	Single nucleotide variant (missense variant)	EXPH5-related condition +1 more	GBenign
Select item 1253296	NM_015065.3(EXPH5):c.2027G>A (p.Ser676Asn)	EXPH5 (S488N +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2067013	NM_015065.3(EXPH5):c.1829T>C (p.Ile610Thr)	EXPH5 (I603T +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2181691	NM_015065.3(EXPH5):c.1809T>C (p.Ser603=)	EXPH5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2749735	NM_015065.3(EXPH5):c.1788G>A (p.Glu596=)	EXPH5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1499923	NM_015065.3(EXPH5):c.1642C>T (p.Pro548Ser)	EXPH5 (P392S +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2080824	NM_015065.3(EXPH5):c.1612G>A (p.Gly538Arg)	EXPH5 (G538R +4 more)	Single nucleotide variant (missense variant)	EXPH5-related condition +1 more	GLikely benign
Select item 1599077	NM_015065.3(EXPH5):c.1573G>T (p.Val525Phe)	EXPH5 (V337F +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1536902	NM_015065.3(EXPH5):c.1568A>G (p.His523Arg)	EXPH5 (H335R +4 more)	Single nucleotide variant (missense variant)	EXPH5-related condition +1 more	GBenign/Likely benign
Select item 776656	NM_015065.3(EXPH5):c.1534A>T (p.Met512Leu)	EXPH5 (M356L +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1900045	NM_015065.3(EXPH5):c.1484G>A (p.Arg495Gln)	EXPH5 (R488Q +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 785382	NM_015065.3(EXPH5):c.1377A>G (p.Arg459=)	EXPH5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1909509	NM_015065.3(EXPH5):c.1251G>A (p.Ser417=)	EXPH5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2175729	NM_015065.3(EXPH5):c.1245T>G (p.Tyr415Ter)	EXPH5 (Y259* +4 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 790108	NM_015065.3(EXPH5):c.1197C>T (p.Pro399=)	EXPH5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1539901	NM_015065.3(EXPH5):c.1179A>T (p.Ser393=)	EXPH5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1377581	NM_015065.3(EXPH5):c.1042A>G (p.Thr348Ala)	EXPH5 (T192A +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2702317	NM_015065.3(EXPH5):c.987G>A (p.Ser329=)	EXPH5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1533390	NM_015065.3(EXPH5):c.983G>A (p.Arg328Gln)	EXPH5 (R140Q +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2182217	NM_015065.3(EXPH5):c.891G>A (p.Met297Ile)	EXPH5 (M141I +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2039125	NM_015065.3(EXPH5):c.726C>G (p.Phe242Leu)	EXPH5 (F235L +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2082403	NM_015065.3(EXPH5):c.654dup (p.Leu219fs)	EXPH5 (L31fs +4 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 790109	NM_015065.3(EXPH5):c.456T>C (p.His152=)	EXPH5	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 1227491	NM_015065.3(EXPH5):c.410A>T (p.Glu137Val)	EXPH5 (E130V +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2068896	NM_015065.3(EXPH5):c.400T>A (p.Ser134Thr)	EXPH5 (S127T +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2343348	NM_015065.3(EXPH5):c.340C>G (p.Pro114Ala)	EXPH5 (P107A +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 774478	NM_015065.3(EXPH5):c.324T>C (p.Asn108=)	EXPH5	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2066231	NM_015065.3(EXPH5):c.281-5dup	EXPH5	Duplication (intron variant)	not provided	GBenign
Select item 1321802	NM_015065.3(EXPH5):c.280+10A>C	EXPH5	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 2852547	NM_015065.3(EXPH5):c.190C>T (p.Gln64Ter)	EXPH5 (Q57* +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1906426	NM_015065.3(EXPH5):c.160G>C (p.Gly54Arg)	EXPH5 (G47R +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2064399	NM_015065.3(EXPH5):c.126T>A (p.Leu42=)	EXPH5	Single nucleotide variant (5 prime UTR variant +1 more)	EXPH5-related condition +1 more	GBenign
Select item 725754	NM_015065.3(EXPH5):c.72G>A (p.Val24=)	EXPH5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1274464	NM_015065.3(EXPH5):c.55A>G (p.Arg19Gly)	EXPH5 (R12G +1 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive +1 more	GBenign
Select item 2171848	NM_015065.3(EXPH5):c.43G>C (p.Asp15His)	EXPH5 (D15H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1898119	NM_015065.3(EXPH5):c.11T>C (p.Val4Ala)	EXPH5 (V4A)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 1371903	NC_000011.9:g.(?_107992334)_(108464263_?)dup	ACAT1, ATM +4 more	Duplication	Deficiency of acetyl-CoA acetyltransferase +1 more	GUncertain significance
Select item 1075501	NC_000011.9:g.(?_94153285)_(111965700_?)del	PIH1D2, PIWIL4 +95 more	Deletion	Ataxia-telangiectasia syndrome	GPathogenic

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Items: 100