Related gene-specific medical variations for Gene (Select 3097) - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362406	NM_006734.4(HIVEP2):c.4907T>G (p.Leu1636Arg)	HIVEP2 (L1636R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 43	GUncertain significance
Select item 3361556	NM_006734.4(HIVEP2):c.461A>G (p.Lys154Arg)	HIVEP2 (K154R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361303	NM_006734.4(HIVEP2):c.470G>A (p.Ser157Asn)	HIVEP2 (S157N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251944	NM_006734.4(HIVEP2):c.5018G>C (p.Trp1673Ser)	HIVEP2 (W1673S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 43	GUncertain significance
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 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 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 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 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 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 2429906	NM_006734.4(HIVEP2):c.5693C>G (p.Ser1898Cys)	HIVEP2 (S1898C)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
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 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 1700094	NM_006734.4(HIVEP2):c.476_477del (p.Asn159fs)	HIVEP2 (N159fs)	Deletion (frameshift variant)	Neurodevelopmental delay	GPathogenic
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 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 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 1184547	NM_006734.4(HIVEP2):c.2853_2854del (p.Glu953fs)	HIVEP2 (E953fs)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 43	GPathogenic
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 987463	NM_006734.4(HIVEP2):c.6609_6616del (p.Pro2203_Glu2204insTer)	HIVEP2	Deletion (frameshift variant)	not provided	GPathogenic
Select item 975714	NM_006734.4(HIVEP2):c.3958T>C (p.Ser1320Pro)	HIVEP2 (S1320P)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
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 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 444701	NM_006734.4(HIVEP2):c.6367A>G (p.Ile2123Val)	HIVEP2 (I2123V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 46