"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "HIVEP2"[ge - ClinVar

Search results

Items: 94

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2081132	NM_006734.4(HIVEP2):c.7216C>T (p.His2406Tyr)	HIVEP2 (H2406Y)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2656948	NM_006734.4(HIVEP2):c.7204A>C (p.Thr2402Pro)	HIVEP2 (T2402P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 871325	NM_006734.4(HIVEP2):c.7158C>A (p.His2386Gln)	HIVEP2 (H2386Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 445845	NM_006734.4(HIVEP2):c.7036C>T (p.Leu2346Phe)	HIVEP2 (L2346F)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 784637	NM_006734.4(HIVEP2):c.6953C>A (p.Thr2318Lys)	HIVEP2 (T2318K)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 2157454	NM_006734.4(HIVEP2):c.6901T>C (p.Ser2301Pro)	HIVEP2 (S2301P)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 975715	NM_006734.4(HIVEP2):c.6892A>T (p.Thr2298Ser)	HIVEP2 (T2298S)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 785806	NM_006734.4(HIVEP2):c.6884C>T (p.Pro2295Leu)	HIVEP2 (P2295L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 43 +2 more	GLikely benign
Select item 758085	NM_006734.4(HIVEP2):c.6858T>A (p.Gly2286=)	HIVEP2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3234350	NM_006734.4(HIVEP2):c.6797C>T (p.Ala2266Val)	HIVEP2 (A2266V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1972676	NM_006734.4(HIVEP2):c.6795C>T (p.Gly2265=)	HIVEP2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1335644	NM_006734.4(HIVEP2):c.6690C>G (p.Pro2230=)	HIVEP2	Single nucleotide variant (synonymous variant)	HIVEP2-related disorder +1 more	GBenign/Likely benign
Select item 2874248	NM_006734.4(HIVEP2):c.6651C>T (p.His2217=)	HIVEP2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3234746	NM_006734.4(HIVEP2):c.6530G>A (p.Gly2177Glu)	HIVEP2 (G2177E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2656949	NM_006734.4(HIVEP2):c.6525A>G (p.Arg2175=)	HIVEP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656950	NM_006734.4(HIVEP2):c.6522A>T (p.Leu2174Phe)	HIVEP2 (L2174F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 444701	NM_006734.4(HIVEP2):c.6367A>G (p.Ile2123Val)	HIVEP2 (I2123V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 709972	NM_006734.4(HIVEP2):c.5968T>C (p.Cys1990Arg)	HIVEP2 (C1990R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2656951	NM_006734.4(HIVEP2):c.5920A>G (p.Thr1974Ala)	HIVEP2 (T1974A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2066885	NM_006734.4(HIVEP2):c.5892A>G (p.Gly1964=)	HIVEP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 738576	NM_006734.4(HIVEP2):c.5865C>T (p.His1955=)	HIVEP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1337352	NM_006734.4(HIVEP2):c.5853C>T (p.Gly1951=)	HIVEP2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 3234788	NM_006734.4(HIVEP2):c.5798C>G (p.Ser1933Ter)	HIVEP2 (S1933*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 747830	NM_006734.4(HIVEP2):c.5694C>T (p.Ser1898=)	HIVEP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2066142	NM_006734.4(HIVEP2):c.5592G>A (p.Ser1864=)	HIVEP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1335645	NM_006734.4(HIVEP2):c.5279A>C (p.His1760Pro)	HIVEP2 (H1760P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 872144	NM_006734.4(HIVEP2):c.5267A>G (p.Lys1756Arg)	HIVEP2 (K1756R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1642570	NM_006734.4(HIVEP2):c.5202G>A (p.Ala1734=)	HIVEP2	Single nucleotide variant (synonymous variant)	HIVEP2-related disorder +1 more	GLikely benign
Select item 3026643	NM_006734.4(HIVEP2):c.5167G>A (p.Ala1723Thr)	HIVEP2 (A1723T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2656952	NM_006734.4(HIVEP2):c.5137C>T (p.Pro1713Ser)	HIVEP2 (P1713S)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1711640	NM_006734.4(HIVEP2):c.4932A>T (p.Thr1644=)	HIVEP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 710327	NM_006734.4(HIVEP2):c.4813G>C (p.Val1605Leu)	HIVEP2 (V1605L)	Single nucleotide variant (missense variant)	HIVEP2-related disorder +1 more	GBenign
Select item 3025156	NM_006734.4(HIVEP2):c.4659G>A (p.Gly1553=)	HIVEP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1695168	NM_006734.4(HIVEP2):c.4636G>A (p.Gly1546Ser)	HIVEP2 (G1546S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2656953	NM_006734.4(HIVEP2):c.4551G>A (p.Ser1517=)	HIVEP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2418975	NM_006734.4(HIVEP2):c.4485G>A (p.Leu1495=)	HIVEP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1012789	NM_006734.4(HIVEP2):c.4442C>T (p.Ser1481Leu)	HIVEP2 (S1481L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3234422	NM_006734.4(HIVEP2):c.4246G>A (p.Gly1416Ser)	HIVEP2 (G1416S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2656954	NM_006734.4(HIVEP2):c.4146A>C (p.Ala1382=)	HIVEP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2158273	NM_006734.4(HIVEP2):c.4143C>T (p.Asn1381=)	HIVEP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 785869	NM_006734.4(HIVEP2):c.4140C>T (p.Thr1380=)	HIVEP2	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 43 +1 more	GBenign/Likely benign
Select item 2315460	NM_006734.4(HIVEP2):c.3877C>T (p.Leu1293Phe)	HIVEP2 (L1293F)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 746835	NM_006734.4(HIVEP2):c.3877C>A (p.Leu1293Ile)	HIVEP2 (L1293I)	Single nucleotide variant (missense variant)	HIVEP2-related disorder +1 more	GLikely benign
Select item 2071062	NM_006734.4(HIVEP2):c.3722G>C (p.Ser1241Thr)	HIVEP2 (S1241T)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 444702	NM_006734.4(HIVEP2):c.3434C>T (p.Pro1145Leu)	HIVEP2 (P1145L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2181395	NM_006734.4(HIVEP2):c.3383C>T (p.Pro1128Leu)	HIVEP2 (P1128L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 739834	NM_006734.4(HIVEP2):c.3381G>A (p.Leu1127=)	HIVEP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 624270	NM_006734.4(HIVEP2):c.3307G>A (p.Val1103Met)	HIVEP2 (V1103M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 737386	NM_006734.4(HIVEP2):c.3213G>A (p.Pro1071=)	HIVEP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1975654	NM_006734.4(HIVEP2):c.3203C>T (p.Thr1068Met)	HIVEP2 (T1068M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2673080	NM_006734.4(HIVEP2):c.3186G>A (p.Ser1062=)	HIVEP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 224791	NM_006734.4(HIVEP2):c.2827C>T (p.Arg943Ter)	HIVEP2 (R943*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 43 +1 more	GPathogenic
Select item 2656955	NM_006734.4(HIVEP2):c.2823T>C (p.Arg941=)	HIVEP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656956	NM_006734.4(HIVEP2):c.2795C>A (p.Ala932Glu)	HIVEP2 (A932E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 750537	NM_006734.4(HIVEP2):c.2793C>T (p.Pro931=)	HIVEP2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3067716	NM_006734.4(HIVEP2):c.2787G>C (p.Gln929His)	HIVEP2 (Q929H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2170551	NM_006734.4(HIVEP2):c.2784C>G (p.Ser928=)	HIVEP2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 932595	NM_006734.4(HIVEP2):c.2683G>A (p.Glu895Lys)	HIVEP2 (E895K)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2571262	NM_006734.4(HIVEP2):c.2667T>G (p.Pro889=)	HIVEP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656957	NM_006734.4(HIVEP2):c.2634C>G (p.Pro878=)	HIVEP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1299051	NM_006734.4(HIVEP2):c.2554C>T (p.Pro852Ser)	HIVEP2 (P852S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1335646	NM_006734.4(HIVEP2):c.2460C>T (p.Ala820=)	HIVEP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656958	NM_006734.4(HIVEP2):c.2388A>G (p.Gly796=)	HIVEP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 710328	NM_006734.4(HIVEP2):c.2349A>G (p.Ser783=)	HIVEP2	Single nucleotide variant (synonymous variant)	HIVEP2-related disorder +1 more	GBenign/Likely benign
Select item 2673081	NM_006734.4(HIVEP2):c.2292A>C (p.Gln764His)	HIVEP2 (Q764H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 746784	NM_006734.4(HIVEP2):c.2178C>T (p.Ser726=)	HIVEP2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 2656959	NM_006734.4(HIVEP2):c.2052A>C (p.Val684=)	HIVEP2	Single nucleotide variant (synonymous variant)	HIVEP2-related disorder +1 more	GLikely benign
Select item 2749754	NM_006734.4(HIVEP2):c.2016A>G (p.Glu672=)	HIVEP2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2673082	NM_006734.4(HIVEP2):c.1985C>G (p.Ser662Cys)	HIVEP2 (S662C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2656960	NM_006734.4(HIVEP2):c.1898G>T (p.Arg633Met)	HIVEP2 (R633M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2656961	NM_006734.4(HIVEP2):c.1830C>T (p.His610=)	HIVEP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 932596	NM_006734.4(HIVEP2):c.1776A>T (p.Arg592Ser)	HIVEP2 (R592S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2716894	NM_006734.4(HIVEP2):c.1744G>A (p.Val582Met)	HIVEP2 (V582M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2098368	NM_006734.4(HIVEP2):c.1436T>C (p.Ile479Thr)	HIVEP2 (I479T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1695169	NM_006734.4(HIVEP2):c.1275C>A (p.Ile425=)	HIVEP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656962	NM_006734.4(HIVEP2):c.1036G>C (p.Gly346Arg)	HIVEP2 (G346R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 445442	NM_006734.4(HIVEP2):c.1033A>G (p.Ile345Val)	HIVEP2 (I345V)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 721356	NM_006734.4(HIVEP2):c.927C>T (p.Gly309=)	HIVEP2	Single nucleotide variant (synonymous variant)	HIVEP2-related disorder +1 more	GLikely benign
Select item 3025967	NM_006734.4(HIVEP2):c.916G>A (p.Ala306Thr)	HIVEP2 (A306T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1676041	NM_006734.4(HIVEP2):c.913A>T (p.Ile305Phe)	HIVEP2 (I305F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1335647	NM_006734.4(HIVEP2):c.908T>C (p.Leu303Pro)	HIVEP2 (L303P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2673083	NM_006734.4(HIVEP2):c.870G>A (p.Glu290=)	HIVEP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1711641	NM_006734.4(HIVEP2):c.846T>A (p.Asp282Glu)	HIVEP2 (D282E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3234724	NM_006734.4(HIVEP2):c.785C>T (p.Ala262Val)	HIVEP2 (A262V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 782255	NM_006734.4(HIVEP2):c.776A>G (p.Asp259Gly)	HIVEP2 (D259G)	Single nucleotide variant (missense variant)	HIVEP2-related disorder +1 more	GBenign/Likely benign
Select item 750131	NM_006734.4(HIVEP2):c.404C>G (p.Ser135Cys)	HIVEP2 (S135C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 3027002	NM_006734.4(HIVEP2):c.324G>T (p.Gly108=)	HIVEP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3027003	NM_006734.4(HIVEP2):c.323G>C (p.Gly108Ala)	HIVEP2 (G108A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2170552	NM_006734.4(HIVEP2):c.312A>G (p.Ser104=)	HIVEP2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2182244	NM_006734.4(HIVEP2):c.244A>C (p.Lys82Gln)	HIVEP2 (K82Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2080707	NM_006734.4(HIVEP2):c.240A>T (p.Ala80=)	HIVEP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1299052	NM_006734.4(HIVEP2):c.215C>T (p.Pro72Leu)	HIVEP2 (P72L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 711471	NM_006734.4(HIVEP2):c.194G>T (p.Gly65Val)	HIVEP2 (G65V)	Single nucleotide variant (missense variant)	HIVEP2-related disorder +2 more	GBenign/Likely benign
Select item 2008638	NM_006734.4(HIVEP2):c.59A>G (p.Asp20Gly)	HIVEP2 (D20G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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Items: 94