EXPH5[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148976	GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1	LOC130006596, LOC130006597 +387 more	Copy number loss	See cases	GPathogenic
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 1242733	NM_015065.3(EXPH5):c.*283T>C	EXPH5	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2499330	NM_015065.3(EXPH5):c.*140dup	EXPH5	Duplication (3 prime UTR variant)	not provided	GLikely benign
Select item 719499	NM_015065.3(EXPH5):c.5953A>G (p.Lys1985Glu)	EXPH5 (K1985E +4 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1285243	NM_015065.3(EXPH5):c.5922A>G (p.Thr1974=)	EXPH5	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive +1 more	GBenign
Select item 2163089	NM_015065.3(EXPH5):c.5914A>G (p.Thr1972Ala)	EXPH5 (T1896A +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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 2310923	NM_015065.3(EXPH5):c.5795C>T (p.Pro1932Leu)	EXPH5 (P1925L +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 265125	NM_015065.3(EXPH5):c.5786del (p.Pro1929fs)	EXPH5 (P1922fs +4 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3091269	NM_015065.3(EXPH5):c.5755C>G (p.Pro1919Ala)	EXPH5 (P1731A +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091268	NM_015065.3(EXPH5):c.5737C>A (p.Pro1913Thr)	EXPH5 (P1725T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3276849	NM_015065.3(EXPH5):c.5714T>C (p.Leu1905Pro)	EXPH5 (L1829P +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243328	NM_015065.3(EXPH5):c.5710T>C (p.Ser1904Pro)	EXPH5 (S1897P +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2554755	NM_015065.3(EXPH5):c.5681A>G (p.Gln1894Arg)	EXPH5 (Q1738R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212971	NM_015065.3(EXPH5):c.5653G>A (p.Asp1885Asn)	EXPH5 (D1809N +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545170	NM_015065.3(EXPH5):c.5629G>T (p.Ala1877Ser)	EXPH5 (A1721S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3091267	NM_015065.3(EXPH5):c.5605G>A (p.Gly1869Arg)	EXPH5 (G1869R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely 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 2364755	NM_015065.3(EXPH5):c.5519C>A (p.Ser1840Tyr)	EXPH5 (S1652Y +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3091266	NM_015065.3(EXPH5):c.5479G>T (p.Asp1827Tyr)	EXPH5 (D1671Y +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3276857	NM_015065.3(EXPH5):c.5471C>T (p.Thr1824Ile)	EXPH5 (T1636I +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 730959	NM_015065.3(EXPH5):c.5453G>A (p.Arg1818His)	EXPH5 (R1630H +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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)	Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 2255133	NM_015065.3(EXPH5):c.5407C>T (p.His1803Tyr)	EXPH5 (H1615Y +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2624402	NM_015065.3(EXPH5):c.5387G>A (p.Ser1796Asn)	EXPH5 (S1789N +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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)	EXPH5-related disorder +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)	EXPH5-related disorder +1 more	GBenign
Select item 2267177	NM_015065.3(EXPH5):c.5107T>C (p.Phe1703Leu)	EXPH5 (F1547L +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359569	NM_015065.3(EXPH5):c.5085T>G (p.Ile1695Met)	EXPH5 (I1507M +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091264	NM_015065.3(EXPH5):c.5069A>C (p.Gln1690Pro)	EXPH5 (Q1502P +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 787388	NM_015065.3(EXPH5):c.5059G>A (p.Val1687Ile)	EXPH5 (V1531I +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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)	Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive +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 2388784	NM_015065.3(EXPH5):c.4930C>A (p.Pro1644Thr)	EXPH5 (P1456T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615561	NM_015065.3(EXPH5):c.4919A>T (p.Asn1640Ile)	EXPH5 (N1640I +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1698844	NM_015065.3(EXPH5):c.4917C>A (p.Cys1639Ter)	EXPH5 (C1451* +4 more)	Single nucleotide variant (nonsense)	Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive	GPathogenic
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)	EXPH5-related disorder +1 more	GBenign/Likely benign
Select item 2474011	NM_015065.3(EXPH5):c.4873A>G (p.Ser1625Gly)	EXPH5 (S1437G +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523038	NM_015065.3(EXPH5):c.4861C>A (p.Pro1621Thr)	EXPH5 (P1545T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2257839	NM_015065.3(EXPH5):c.4763G>C (p.Arg1588Thr)	EXPH5 (R1400T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3091262	NM_015065.3(EXPH5):c.4714G>A (p.Gly1572Arg)	EXPH5 (G1384R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3047850	NM_015065.3(EXPH5):c.4680G>A (p.Gln1560=)	EXPH5	Single nucleotide variant (synonymous variant)	EXPH5-related disorder	GLikely benign
Select item 2378958	NM_015065.3(EXPH5):c.4669G>A (p.Asp1557Asn)	EXPH5 (D1369N +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3091261	NM_015065.3(EXPH5):c.4619T>C (p.Leu1540Ser)	EXPH5 (L1384S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1248929	NM_015065.3(EXPH5):c.4590A>G (p.Leu1530=)	EXPH5	Single nucleotide variant (synonymous variant)	EXPH5-related disorder +1 more	GBenign
Select item 3091260	NM_015065.3(EXPH5):c.4564G>A (p.Glu1522Lys)	EXPH5 (E1334K +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1484461	NM_015065.3(EXPH5):c.4556T>G (p.Leu1519Arg)	EXPH5 (L1512R +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2518812	NM_015065.3(EXPH5):c.4492A>G (p.Lys1498Glu)	EXPH5 (K1491E +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2309883	NM_015065.3(EXPH5):c.4441C>G (p.Pro1481Ala)	EXPH5 (P1325A +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489529	NM_015065.3(EXPH5):c.4417G>T (p.Gly1473Cys)	EXPH5 (G1285C +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2281026	NM_015065.3(EXPH5):c.4355G>C (p.Arg1452Thr)	EXPH5 (R1296T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3276855	NM_015065.3(EXPH5):c.4219G>A (p.Glu1407Lys)	EXPH5 (E1400K +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3091258	NM_015065.3(EXPH5):c.4197G>A (p.Met1399Ile)	EXPH5 (M1211I +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2168780	NM_015065.3(EXPH5):c.4060G>C (p.Val1354Leu)	EXPH5 (V1198L +4 more)	Single nucleotide variant (missense variant)	not provided +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 3091256	NM_015065.3(EXPH5):c.3998G>A (p.Arg1333Gln)	EXPH5 (R1177Q +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2594693	NM_015065.3(EXPH5):c.3967A>T (p.Thr1323Ser)	EXPH5 (T1316S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288809	NM_015065.3(EXPH5):c.3959C>G (p.Ser1320Cys)	EXPH5 (S1132C +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 +1 more	GConflicting classifications of pathogenicity
Select item 3091255	NM_015065.3(EXPH5):c.3946A>G (p.Met1316Val)	EXPH5 (M1240V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2285517	NM_015065.3(EXPH5):c.3925C>A (p.Pro1309Thr)	EXPH5 (P1121T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1304973	NM_015065.3(EXPH5):c.3917C>G (p.Ser1306Ter)	EXPH5 (S1306* +4 more)	Single nucleotide variant (nonsense)	Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive	GPathogenic
Select item 3091253	NM_015065.3(EXPH5):c.3916T>C (p.Ser1306Pro)	EXPH5 (S1118P +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231542	NM_015065.3(EXPH5):c.3874G>A (p.Ala1292Thr)	EXPH5 (A1136T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091252	NM_015065.3(EXPH5):c.3860A>G (p.Glu1287Gly)	EXPH5 (E1131G +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2513127	NM_015065.3(EXPH5):c.3831A>T (p.Leu1277Phe)	EXPH5 (L1270F +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2617362	NM_015065.3(EXPH5):c.3758A>T (p.Tyr1253Phe)	EXPH5 (Y1065F +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 790654	NM_015065.3(EXPH5):c.3706T>G (p.Ser1236Ala)	EXPH5 (S1048A +4 more)	Single nucleotide variant (missense variant)	EXPH5-related disorder +1 more	GBenign
Select item 2370550	NM_015065.3(EXPH5):c.3679C>T (p.His1227Tyr)	EXPH5 (H1151Y +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1304971	NM_015065.3(EXPH5):c.3650T>A (p.Leu1217Ter)	EXPH5 (L1217* +4 more)	Single nucleotide variant (nonsense)	Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive	GPathogenic
Select item 2242419	NM_015065.3(EXPH5):c.3640del (p.Cys1214fs)	EXPH5 (C1026fs +4 more)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 1943385	NM_015065.3(EXPH5):c.3519T>C (p.Cys1173=)	EXPH5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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