"Ambry Genetics"[submitter] AND "EXPH5"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 2242419	NM_015065.3(EXPH5):c.3640del (p.Cys1214fs)	EXPH5 (C1026fs +4 more)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2555515	NM_015065.3(EXPH5):c.3455T>C (p.Leu1152Pro)	EXPH5 (L1076P +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323145	NM_015065.3(EXPH5):c.3443A>G (p.Asp1148Gly)	EXPH5 (D1148G +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250291	NM_015065.3(EXPH5):c.3439A>G (p.Met1147Val)	EXPH5 (M959V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2715257	NM_015065.3(EXPH5):c.3400A>G (p.Thr1134Ala)	EXPH5 (T978A +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2372010	NM_015065.3(EXPH5):c.3385G>C (p.Glu1129Gln)	EXPH5 (E1129Q +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091250	NM_015065.3(EXPH5):c.3364G>T (p.Ala1122Ser)	EXPH5 (A1046S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091249	NM_015065.3(EXPH5):c.3329T>C (p.Val1110Ala)	EXPH5 (V1110A +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091248	NM_015065.3(EXPH5):c.3316G>A (p.Gly1106Arg)	EXPH5 (G1106R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252739	NM_015065.3(EXPH5):c.3280G>A (p.Glu1094Lys)	EXPH5 (E1018K +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091247	NM_015065.3(EXPH5):c.3203A>G (p.Asn1068Ser)	EXPH5 (N992S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394292	NM_015065.3(EXPH5):c.3134T>G (p.Leu1045Trp)	EXPH5 (L889W +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091246	NM_015065.3(EXPH5):c.3105G>T (p.Gln1035His)	EXPH5 (Q1035H +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091245	NM_015065.3(EXPH5):c.3104A>C (p.Gln1035Pro)	EXPH5 (Q879P +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462369	NM_015065.3(EXPH5):c.3061A>G (p.Thr1021Ala)	EXPH5 (T1014A +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3276860	NM_015065.3(EXPH5):c.3031A>G (p.Lys1011Glu)	EXPH5 (K1004E +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265650	NM_015065.3(EXPH5):c.3019C>G (p.Gln1007Glu)	EXPH5 (Q931E +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091244	NM_015065.3(EXPH5):c.3008T>C (p.Ile1003Thr)	EXPH5 (I815T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3091243	NM_015065.3(EXPH5):c.2704T>C (p.Ser902Pro)	EXPH5 (S746P +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3276853	NM_015065.3(EXPH5):c.2673G>T (p.Lys891Asn)	EXPH5 (K815N +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3276850	NM_015065.3(EXPH5):c.2654C>T (p.Pro885Leu)	EXPH5 (P697L +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238879	NM_015065.3(EXPH5):c.2618C>T (p.Ser873Leu)	EXPH5 (S873L +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2612626	NM_015065.3(EXPH5):c.2588A>T (p.Lys863Ile)	EXPH5 (K707I +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091242	NM_015065.3(EXPH5):c.2512G>A (p.Glu838Lys)	EXPH5 (E762K +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091241	NM_015065.3(EXPH5):c.2479C>G (p.Gln827Glu)	EXPH5 (Q639E +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091240	NM_015065.3(EXPH5):c.2453C>T (p.Thr818Ile)	EXPH5 (T662I +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091239	NM_015065.3(EXPH5):c.2343G>A (p.Met781Ile)	EXPH5 (M705I +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2462046	NM_015065.3(EXPH5):c.2263G>A (p.Gly755Arg)	EXPH5 (G755R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2384308	NM_015065.3(EXPH5):c.2221G>C (p.Asp741His)	EXPH5 (D553H +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2324733	NM_015065.3(EXPH5):c.2200G>C (p.Gly734Arg)	EXPH5 (G546R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260090	NM_015065.3(EXPH5):c.2120T>C (p.Ile707Thr)	EXPH5 (I707T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316813	NM_015065.3(EXPH5):c.2021T>C (p.Val674Ala)	EXPH5 (V486A +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312805	NM_015065.3(EXPH5):c.1984G>A (p.Ala662Thr)	EXPH5 (A474T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240024	NM_015065.3(EXPH5):c.1975A>T (p.Asn659Tyr)	EXPH5 (N659Y +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3276858	NM_015065.3(EXPH5):c.1958T>G (p.Leu653Trp)	EXPH5 (L497W +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3276859	NM_015065.3(EXPH5):c.1873T>C (p.Ser625Pro)	EXPH5 (S618P +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3091237	NM_015065.3(EXPH5):c.1846T>G (p.Ser616Ala)	EXPH5 (S616A +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091236	NM_015065.3(EXPH5):c.1814C>A (p.Pro605His)	EXPH5 (P598H +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258135	NM_015065.3(EXPH5):c.1801C>G (p.Gln601Glu)	EXPH5 (Q413E +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091235	NM_015065.3(EXPH5):c.1774G>A (p.Val592Ile)	EXPH5 (V436I +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3091234	NM_015065.3(EXPH5):c.1658T>C (p.Phe553Ser)	EXPH5 (F546S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598886	NM_015065.3(EXPH5):c.1651T>A (p.Trp551Arg)	EXPH5 (W395R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1499923	NM_015065.3(EXPH5):c.1642C>T (p.Pro548Ser)	EXPH5 (P392S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2331091	NM_015065.3(EXPH5):c.1615A>C (p.Thr539Pro)	EXPH5 (T463P +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209965	NM_015065.3(EXPH5):c.1594T>C (p.Ser532Pro)	EXPH5 (S532P +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388794	NM_015065.3(EXPH5):c.1526T>C (p.Met509Thr)	EXPH5 (M321T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091233	NM_015065.3(EXPH5):c.1408G>A (p.Gly470Arg)	EXPH5 (G470R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2309644	NM_015065.3(EXPH5):c.1406G>A (p.Ser469Asn)	EXPH5 (S462N +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399846	NM_015065.3(EXPH5):c.1318G>A (p.Asp440Asn)	EXPH5 (D440N +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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