ClinVar for Gene (Select 23086) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 255

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3091270	NM_015065.3(EXPH5):c.700C>T (p.Leu234Phe)	EXPH5 (L234F +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 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 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 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 3091263	NM_015065.3(EXPH5):c.490G>T (p.Val164Leu)	EXPH5 (V164L +3 more)	Single nucleotide variant (missense variant +1 more)	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 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 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 3091257	NM_015065.3(EXPH5):c.401C>T (p.Ser134Phe)	EXPH5 (S134F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 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 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 3091251	NM_015065.3(EXPH5):c.368C>T (p.Ser123Leu)	EXPH5 (S123L +2 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 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 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 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 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 3091238	NM_015065.3(EXPH5):c.211G>C (p.Glu71Gln)	EXPH5 (E71Q +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
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 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 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 3091232	NM_015065.3(EXPH5):c.1266T>A (p.Asn422Lys)	EXPH5 (N266K +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3064914	NM_015065.3(EXPH5):c.2525G>A (p.Arg842Lys)	EXPH5 (R654K +4 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive	GUncertain significance
Select item 3048210	NM_015065.3(EXPH5):c.716G>C (p.Arg239Thr)	EXPH5 (R163T +4 more)	Single nucleotide variant (missense variant)	EXPH5-related disorder	GLikely benign
Select item 3048155	NM_015065.3(EXPH5):c.392T>A (p.Phe131Tyr)	EXPH5 (F124Y +2 more)	Single nucleotide variant (missense variant)	EXPH5-related disorder	GLikely benign
Select item 3047905	NM_015065.3(EXPH5):c.1803G>A (p.Gln601=)	EXPH5	Single nucleotide variant (synonymous variant)	EXPH5-related disorder	GLikely benign
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 3041416	NM_015065.3(EXPH5):c.2351C>T (p.Pro784Leu)	EXPH5 (P596L +4 more)	Single nucleotide variant (missense variant)	EXPH5-related disorder	GLikely benign
Select item 3040496	NM_015065.3(EXPH5):c.1794A>G (p.Val598=)	EXPH5	Single nucleotide variant (synonymous variant)	EXPH5-related disorder	GLikely benign
Select item 3040394	NM_015065.3(EXPH5):c.-179C>G	EXPH5, LOC130006708	Single nucleotide variant (5 prime UTR variant +1 more)	EXPH5-related disorder	GLikely benign
Select item 3034220	NM_015065.3(EXPH5):c.3453G>A (p.Glu1151=)	EXPH5	Single nucleotide variant (synonymous variant)	EXPH5-related disorder	GBenign
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 2749735	NM_015065.3(EXPH5):c.1788G>A (p.Glu596=)	EXPH5	Single nucleotide variant (synonymous variant)	not provided	GLikely 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 2727609	NM_015065.3(EXPH5):c.4642A>G (p.Asn1548Asp)	EXPH5 (N1360D +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 2715257	NM_015065.3(EXPH5):c.3400A>G (p.Thr1134Ala)	EXPH5 (T978A +4 more)	Single nucleotide variant (missense variant)	EXPH5-related disorder +1 more	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 2702317	NM_015065.3(EXPH5):c.987G>A (p.Ser329=)	EXPH5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2642362	NM_015065.3(EXPH5):c.336G>A (p.Pro112=)	EXPH5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 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 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 2596436	NM_015065.3(EXPH5):c.1117T>A (p.Trp373Arg)	EXPH5 (W373R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595616	NM_015065.3(EXPH5):c.1180C>T (p.Pro394Ser)	EXPH5 (P394S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2570811	NM_015065.3(EXPH5):c.297T>A (p.Pro99=)	EXPH5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2570810	NM_015065.3(EXPH5):c.299del (p.Thr100fs)	EXPH5 (T100fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2570809	NM_015065.3(EXPH5):c.1494A>G (p.Lys498=)	EXPH5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 2523345	NM_015065.3(EXPH5):c.1277G>A (p.Arg426His)	EXPH5 (R270H +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 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 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 2499330	NM_015065.3(EXPH5):c.*140dup	EXPH5	Duplication (3 prime UTR variant)	not provided	GLikely benign
Select item 2491029	NM_015065.3(EXPH5):c.648T>G (p.Asp216Glu)	EXPH5 (D28E +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 2483639	NM_015065.3(EXPH5):c.642C>G (p.Asp214Glu)	EXPH5 (D214E +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 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 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 2399846	NM_015065.3(EXPH5):c.1318G>A (p.Asp440Asn)	EXPH5 (D440N +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396007	NM_015065.3(EXPH5):c.1236T>G (p.Asn412Lys)	EXPH5 (N336K +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 2391392	NM_015065.3(EXPH5):c.210T>A (p.Asn70Lys)	EXPH5 (N63K +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	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 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 2385574	NM_015065.3(EXPH5):c.45C>G (p.Asp15Glu)	EXPH5 (D15E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 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 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 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 2361305	NM_015065.3(EXPH5):c.970G>A (p.Asp324Asn)	EXPH5 (D168N +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 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 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 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 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 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

<< First< Prev

Page of 3