ClinVar for MedGen (Select 934738) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236242	NM_006734.4(HIVEP2):c.3412C>T (p.Gln1138Ter)	HIVEP2 (Q1138*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 43	GPathogenic
Select item 3065577	NM_006734.4(HIVEP2):c.5371G>A (p.Val1791Ile)	HIVEP2 (V1791I)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 43	GUncertain significance
Select item 3062061	NM_006734.4(HIVEP2):c.5764del (p.Asp1922fs)	HIVEP2 (D1922fs)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 43	GPathogenic
Select item 3024316	NM_006734.4(HIVEP2):c.5653A>T (p.Lys1885Ter)	HIVEP2 (K1885*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 43	GPathogenic
Select item 2692475	NM_006734.4(HIVEP2):c.4655del (p.Pro1552fs)	HIVEP2 (P1552fs)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 43	GLikely pathogenic
Select item 2689211	NM_006734.4(HIVEP2):c.1291C>T (p.Arg431Trp)	HIVEP2 (R431W)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 43	GUncertain significance
Select item 2689210	NM_006734.4(HIVEP2):c.272C>T (p.Pro91Leu)	HIVEP2 (P91L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 43 +1 more	GUncertain significance
Select item 2689209	NM_006734.4(HIVEP2):c.3290T>C (p.Val1097Ala)	HIVEP2 (V1097A)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 43	GUncertain significance
Select item 2689208	NM_006734.4(HIVEP2):c.2358G>A (p.Met786Ile)	HIVEP2 (M786I)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 43	GUncertain significance
Select item 2664217	NM_006734.4(HIVEP2):c.1023C>G (p.Ser341Arg)	HIVEP2 (S341R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2626990	NM_006734.4(HIVEP2):c.868G>T (p.Glu290Ter)	HIVEP2 (E290*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 43	GPathogenic
Select item 2584456	NM_006734.4(HIVEP2):c.2925del (p.His975fs)	HIVEP2 (H975fs)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 43	GLikely pathogenic
Select item 2584386	NM_006734.4(HIVEP2):c.3678dup (p.Gln1227fs)	HIVEP2 (Q1227fs)	Duplication (frameshift variant)	Intellectual disability, autosomal dominant 43	GLikely pathogenic
Select item 2572614	NM_006734.4(HIVEP2):c.3490C>T (p.Gln1164Ter)	HIVEP2 (Q1164*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 43	GLikely pathogenic
Select item 2572221	NM_006734.4(HIVEP2):c.5188-1del	HIVEP2	Deletion (splice acceptor variant)	Intellectual disability, autosomal dominant 43	GLikely pathogenic
Select item 2499583	NM_006734.4(HIVEP2):c.117del (p.Phe39fs)	HIVEP2 (F39fs)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 43	GLikely pathogenic
Select item 2432473	NM_006734.4(HIVEP2):c.1315A>C (p.Ser439Arg)	HIVEP2 (S439R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 43	GUncertain significance
Select item 2432472	NM_006734.4(HIVEP2):c.1214A>G (p.Glu405Gly)	HIVEP2 (E405G)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 43	GUncertain significance
Select item 2432471	NM_006734.4(HIVEP2):c.6266C>T (p.Ser2089Leu)	HIVEP2 (S2089L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 43	GUncertain significance
Select item 2432470	NM_006734.4(HIVEP2):c.1131A>C (p.Lys377Asn)	HIVEP2 (K377N)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 43	GUncertain significance
Select item 2432469	NM_006734.4(HIVEP2):c.6257G>A (p.Arg2086Lys)	HIVEP2 (R2086K)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 43	GUncertain significance
Select item 2432468	NM_006734.4(HIVEP2):c.6197C>T (p.Pro2066Leu)	HIVEP2 (P2066L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 43	GUncertain significance
Select item 2432467	NM_006734.4(HIVEP2):c.6486G>C (p.Leu2162Phe)	HIVEP2 (L2162F)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 43	GUncertain significance
Select item 2432466	NM_006734.4(HIVEP2):c.1977G>T (p.Arg659Ser)	HIVEP2 (R659S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 43	GUncertain significance
Select item 2432465	NM_006734.4(HIVEP2):c.6062G>A (p.Cys2021Tyr)	HIVEP2 (C2021Y)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2432464	NM_006734.4(HIVEP2):c.6769A>G (p.Met2257Val)	HIVEP2 (M2257V)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 43	GUncertain significance
Select item 2432463	NM_006734.4(HIVEP2):c.7056G>A (p.Ala2352=)	HIVEP2	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 43	GUncertain significance
Select item 2432462	NM_006734.4(HIVEP2):c.6517-5C>A	HIVEP2	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 43	GUncertain significance
Select item 2432460	NM_006734.4(HIVEP2):c.193G>C (p.Gly65Arg)	HIVEP2 (G65R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 43	GUncertain significance
Select item 2432459	NM_006734.4(HIVEP2):c.1781C>T (p.Ala594Val)	HIVEP2 (A594V)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 43	GUncertain significance
Select item 2432458	NM_006734.4(HIVEP2):c.541C>T (p.His181Tyr)	HIVEP2 (H181Y)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 43	GUncertain significance
Select item 2432457	NM_006734.4(HIVEP2):c.7019C>T (p.Thr2340Met)	HIVEP2 (T2340M)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 43	GUncertain significance
Select item 2432456	NM_006734.4(HIVEP2):c.6104C>T (p.Ser2035Phe)	HIVEP2 (S2035F)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2432455	NM_006734.4(HIVEP2):c.987T>G (p.Ile329Met)	HIVEP2 (I329M)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 43	GUncertain significance
Select item 2432453	NM_006734.4(HIVEP2):c.3362A>G (p.His1121Arg)	HIVEP2 (H1121R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 43	GUncertain significance
Select item 2432452	NM_006734.4(HIVEP2):c.2173G>C (p.Ala725Pro)	HIVEP2 (A725P)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 43	GUncertain significance
Select item 2432451	NM_006734.4(HIVEP2):c.330G>A (p.Met110Ile)	HIVEP2 (M110I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2431887	NM_006734.4(HIVEP2):c.185A>T (p.Gln62Leu)	HIVEP2 (Q62L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 43	GUncertain significance
Select item 2431862	NM_006734.4(HIVEP2):c.5689T>A (p.Phe1897Ile)	HIVEP2 (F1897I)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 43	GUncertain significance
Select item 2431579	NM_006734.4(HIVEP2):c.307C>T (p.His103Tyr)	HIVEP2 (H103Y)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 43	GUncertain significance
Select item 2431394	NM_006734.4(HIVEP2):c.6058A>C (p.Ser2020Arg)	HIVEP2 (S2020R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 43	GUncertain significance
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 2074282	NM_006734.4(HIVEP2):c.1067A>T (p.Asn356Ile)	HIVEP2 (N356I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2049549	NM_006734.4(HIVEP2):c.2893C>T (p.Arg965Cys)	HIVEP2 (R965C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2046936	NM_006734.4(HIVEP2):c.2740C>G (p.Pro914Ala)	HIVEP2 (P914A)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 43 +1 more	GConflicting classifications of pathogenicity
Select item 1992350	NM_006734.4(HIVEP2):c.2367del (p.Gly791fs)	HIVEP2 (G791fs)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 43	GLikely pathogenic
Select item 1955557	NM_006734.4(HIVEP2):c.5197G>A (p.Asp1733Asn)	HIVEP2 (D1733N)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 43 +1 more	GConflicting classifications of pathogenicity
Select item 1806226	NM_006734.4(HIVEP2):c.4545CTC[1] (p.Ser1517del)	HIVEP2 (S1517del)	Microsatellite (inframe_deletion)	Intellectual disability, autosomal dominant 43	GUncertain significance
Select item 1805754	NM_006734.4(HIVEP2):c.3956C>T (p.Ala1319Val)	HIVEP2 (A1319V)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 43	GUncertain significance
Select item 1805681	NM_006734.4(HIVEP2):c.2380CCT[1] (p.Pro795del)	HIVEP2 (P795del)	Microsatellite (inframe_deletion)	Intellectual disability, autosomal dominant 43 +1 more	GUncertain significance
Select item 1701725	NM_006734.4(HIVEP2):c.-640-49334A>G	HIVEP2	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 43	GUncertain significance
Select item 1701705	NM_006734.4(HIVEP2):c.6245T>C (p.Leu2082Pro)	HIVEP2 (L2082P)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 43	GUncertain significance
Select item 1700005	NM_006734.4(HIVEP2):c.5856dup (p.Val1953fs)	HIVEP2 (V1953fs)	Duplication (frameshift variant)	Intellectual disability, autosomal dominant 43	GPathogenic
Select item 1699395	NM_006734.4(HIVEP2):c.4578_4579delinsCA (p.Pro1527Thr)	HIVEP2 (P1527T)	Indel (missense variant)	Intellectual disability, autosomal dominant 43	GUncertain significance
Select item 1698760	NM_006734.4(HIVEP2):c.4726T>C (p.Ser1576Pro)	HIVEP2 (S1576P)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 43	GUncertain significance
Select item 1696652	NM_006734.4(HIVEP2):c.4802A>T (p.His1601Leu)	HIVEP2 (H1601L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 43	GUncertain significance
Select item 1696637	NM_006734.4(HIVEP2):c.5150A>T (p.Lys1717Met)	HIVEP2 (K1717M)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 43	GUncertain significance
Select item 1696479	NM_006734.4(HIVEP2):c.5456G>A (p.Arg1819His)	HIVEP2 (R1819H)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 43	GUncertain significance
Select item 1685875	NM_006734.4(HIVEP2):c.5791dup (p.Thr1931fs)	HIVEP2 (T1931fs)	Duplication (frameshift variant)	Intellectual disability, autosomal dominant 43	GPathogenic
Select item 1679799	NM_006734.4(HIVEP2):c.1643C>T (p.Thr548Ile)	HIVEP2 (T548I)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 43 +1 more	GUncertain significance
Select item 1342563	NM_006734.4(HIVEP2):c.230A>C (p.Gln77Pro)	HIVEP2 (Q77P)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 43	GUncertain significance
Select item 1342436	NM_006734.4(HIVEP2):c.956T>G (p.Leu319Trp)	HIVEP2 (L319W)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 43	GUncertain significance
Select item 1335880	NM_006734.4(HIVEP2):c.5150dup (p.Leu1718fs)	HIVEP2 (L1718fs)	Duplication (frameshift variant)	Intellectual disability, autosomal dominant 43	Gnot provided
Select item 1333954	NM_006734.4(HIVEP2):c.6766C>A (p.Pro2256Thr)	HIVEP2 (P2256T)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 43	GUncertain significance
Select item 1333953	NM_006734.4(HIVEP2):c.3813_3814inv (p.Ala1272Thr)	HIVEP2 (A1272T)	Inversion (missense variant)	Intellectual disability, autosomal dominant 43 +1 more	GUncertain significance
Select item 1330247	NM_006734.4(HIVEP2):c.875C>T (p.Ser292Phe)	HIVEP2 (S292F)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 43	GUncertain significance
Select item 1325810	NM_006734.4(HIVEP2):c.7072C>T (p.His2358Tyr)	HIVEP2 (H2358Y)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 43	GUncertain significance
Select item 1310346	NM_006734.4(HIVEP2):c.2963C>T (p.Thr988Ile)	HIVEP2 (T988I)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 43 +1 more	GUncertain significance
Select item 1299676	NM_006734.4(HIVEP2):c.1418A>T (p.Asp473Val)	HIVEP2 (D473V)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 43	GUncertain significance
Select item 1299589	NM_006734.4(HIVEP2):c.3050C>G (p.Ser1017Cys)	HIVEP2 (S1017C)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 43	GUncertain significance
Select item 1298289	NM_006734.4(HIVEP2):c.5890G>T (p.Gly1964Ter)	HIVEP2 (G1964*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 43	GPathogenic
Select item 1285346	NM_006734.4(HIVEP2):c.4613T>C (p.Leu1538Pro)	HIVEP2 (L1538P)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 43 +1 more	GBenign
Select item 1213767	NM_006734.4(HIVEP2):c.446G>A (p.Gly149Asp)	HIVEP2 (G149D)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 43 +1 more	GConflicting classifications of pathogenicity
Select item 1184547	NM_006734.4(HIVEP2):c.2853_2854del (p.Glu953fs)	HIVEP2 (E953fs)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 43	GPathogenic
Select item 1033140	NM_006734.4(HIVEP2):c.967A>G (p.Met323Val)	HIVEP2 (M323V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1033139	NM_006734.4(HIVEP2):c.4828C>T (p.Arg1610Cys)	HIVEP2 (R1610C)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 43	GUncertain significance
Select item 1033138	NM_006734.4(HIVEP2):c.4465C>G (p.Arg1489Gly)	HIVEP2 (R1489G)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 43 +1 more	GConflicting classifications of pathogenicity
Select item 1033137	NM_006734.4(HIVEP2):c.3281A>C (p.Gln1094Pro)	HIVEP2 (Q1094P)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 43	GUncertain significance
Select item 1033136	NM_006734.4(HIVEP2):c.3212C>T (p.Pro1071Leu)	HIVEP2 (P1071L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 43	GUncertain significance
Select item 1031084	NM_006734.4(HIVEP2):c.6277G>A (p.Glu2093Lys)	HIVEP2 (E2093K)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 43	GUncertain significance
Select item 1031083	NM_006734.4(HIVEP2):c.4214C>G (p.Pro1405Arg)	HIVEP2 (P1405R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 43	GUncertain significance
Select item 1031082	NM_006734.4(HIVEP2):c.4022A>C (p.His1341Pro)	HIVEP2 (H1341P)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 43	GUncertain significance
Select item 1031081	NM_006734.4(HIVEP2):c.2156C>T (p.Thr719Ile)	HIVEP2 (T719I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1031080	NM_006734.4(HIVEP2):c.1913A>G (p.Tyr638Cys)	HIVEP2 (Y638C)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 43	GUncertain significance
Select item 996884	NM_006734.4(HIVEP2):c.4024G>A (p.Val1342Ile)	HIVEP2 (V1342I)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 43	GUncertain significance
Select item 984855	NM_006734.4(HIVEP2):c.4144G>A (p.Ala1382Thr)	HIVEP2 (A1382T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 984854	NM_006734.4(HIVEP2):c.6698G>A (p.Gly2233Glu)	HIVEP2 (G2233E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 984807	NM_006734.4(HIVEP2):c.5686C>T (p.Gln1896Ter)	HIVEP2 (Q1896*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 43	GPathogenic
Select item 984760	NM_006734.4(HIVEP2):c.5620+1GT[2]	HIVEP2	Microsatellite (splice donor variant)	Intellectual disability, autosomal dominant 43	GLikely pathogenic
Select item 982904	NM_006734.4(HIVEP2):c.1339C>T (p.Arg447Cys)	HIVEP2 (R447C)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 43 +1 more	GLikely benign
Select item 982883	NM_006734.4(HIVEP2):c.3064C>T (p.His1022Tyr)	HIVEP2 (H1022Y)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 43	GUncertain significance
Select item 978112	NM_006734.4(HIVEP2):c.4276C>T (p.Pro1426Ser)	HIVEP2 (P1426S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 932018	NM_006734.4(HIVEP2):c.4781T>A (p.Leu1594Gln)	HIVEP2 (L1594Q)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 43	GUncertain significance
Select item 931829	NM_006734.4(HIVEP2):c.7310A>C (p.Asp2437Ala)	HIVEP2 (D2437A)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 43 +1 more	GUncertain significance
Select item 931682	NM_006734.4(HIVEP2):c.3730A>G (p.Lys1244Glu)	HIVEP2 (K1244E)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 43 +1 more	GConflicting classifications of pathogenicity
Select item 931017	NM_006734.4(HIVEP2):c.601C>A (p.Pro201Thr)	HIVEP2 (P201T)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 43	GUncertain significance
Select item 930591	NM_006734.4(HIVEP2):c.1505C>G (p.Ser502Cys)	HIVEP2 (S502C)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 43	GUncertain significance
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 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 785190	NM_006734.4(HIVEP2):c.5397C>T (p.Tyr1799=)	HIVEP2	Single nucleotide variant (synonymous variant)	HIVEP2-related disorder +2 more	GBenign/Likely benign

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