ClinVar for MedGen (Select 1635567) - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065855	NM_020754.4(ARHGAP31):c.349-1G>A	ARHGAP31	Single nucleotide variant (splice acceptor variant)	Adams-Oliver syndrome 1	GUncertain significance
Select item 2688592	NM_020754.4(ARHGAP31):c.1220C>A (p.Ala407Asp)	ARHGAP31 (A407D)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 1	GUncertain significance
Select item 2672262	NM_020754.4(ARHGAP31):c.3635T>C (p.Ile1212Thr)	ARHGAP31 (I1212T)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 1	GUncertain significance
Select item 2672252	NM_020754.4(ARHGAP31):c.1462G>C (p.Glu488Gln)	ARHGAP31 (E488Q)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 1	GUncertain significance
Select item 2585092	NM_020754.4(ARHGAP31):c.1807G>A (p.Glu603Lys)	ARHGAP31 (E603K)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 1	GUncertain significance
Select item 2575228	NM_020754.4(ARHGAP31):c.1150G>A (p.Gly384Ser)	ARHGAP31 (G384S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2439155	NM_020754.4(ARHGAP31):c.3545G>A (p.Ser1182Asn)	ARHGAP31 (S1182N)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 1	GUncertain significance
Select item 2439154	NM_020754.4(ARHGAP31):c.3223G>A (p.Val1075Met)	ARHGAP31 (V1075M)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 1	GUncertain significance
Select item 2439153	NM_020754.4(ARHGAP31):c.1063G>T (p.Val355Leu)	ARHGAP31 (V355L)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 1	GUncertain significance
Select item 2439152	NM_020754.4(ARHGAP31):c.1276C>G (p.Arg426Gly)	ARHGAP31 (R426G)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 1	GUncertain significance
Select item 2439151	NM_020754.4(ARHGAP31):c.482G>C (p.Ser161Thr)	ARHGAP31 (S161T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2439150	NM_020754.4(ARHGAP31):c.4289G>A (p.Arg1430Gln)	ARHGAP31 (R1430Q)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 1	GUncertain significance
Select item 2186141	NM_020754.4(ARHGAP31):c.1345A>G (p.Lys449Glu)	ARHGAP31 (K449E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2083861	NM_020754.4(ARHGAP31):c.3698A>T (p.Gln1233Leu)	ARHGAP31 (Q1233L)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1806229	NM_020754.4(ARHGAP31):c.3199A>G (p.Ser1067Gly)	ARHGAP31 (S1067G)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 1	GUncertain significance
Select item 1806036	NM_020754.4(ARHGAP31):c.1487T>C (p.Leu496Pro)	ARHGAP31 (L496P)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 1	GUncertain significance
Select item 1683707	NM_020754.4(ARHGAP31):c.2471C>T (p.Ser824Phe)	ARHGAP31 (S824F)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 1	GUncertain significance
Select item 1408682	NM_020754.4(ARHGAP31):c.3596C>T (p.Ala1199Val)	ARHGAP31 (A1199V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1402061	NM_020754.4(ARHGAP31):c.688C>T (p.Arg230Trp)	ARHGAP31 (R230W)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 1 +1 more	GUncertain significance
Select item 1339129	NM_020754.4(ARHGAP31):c.3247G>A (p.Glu1083Lys)	ARHGAP31 (E1083K)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 1	GUncertain significance
Select item 1284071	NM_020754.4(ARHGAP31):c.1926+89T>A	ARHGAP31	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1277783	NM_020754.4(ARHGAP31):c.100+77A>T	ARHGAP31	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 1 +1 more	GBenign
Select item 1234526	NM_020754.4(ARHGAP31):c.432-100T>A	ARHGAP31	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 1 +1 more	GBenign
Select item 1192409	NM_020754.4(ARHGAP31):c.1070-92G>C	ARHGAP31	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 1 +1 more	GBenign
Select item 1167309	NM_020754.4(ARHGAP31):c.682+19A>C	ARHGAP31	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1028182	NM_020754.4(ARHGAP31):c.745A>G (p.Ser249Gly)	ARHGAP31 (S249G)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 1	GUncertain significance
Select item 1028181	NM_020754.4(ARHGAP31):c.3007G>A (p.Ala1003Thr)	ARHGAP31 (A1003T)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 1	GUncertain significance
Select item 1028180	NM_020754.4(ARHGAP31):c.142C>T (p.His48Tyr)	ARHGAP31 (H48Y)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 1 +1 more	GUncertain significance
Select item 930605	NM_020754.4(ARHGAP31):c.2411C>A (p.Pro804Gln)	ARHGAP31 (P804Q)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 1	GUncertain significance
Select item 789991	NM_020754.4(ARHGAP31):c.1597G>A (p.Gly533Arg)	ARHGAP31 (G533R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 638381	NM_020754.4(ARHGAP31):c.4139C>T (p.Thr1380Ile)	ARHGAP31 (T1380I)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 1	GLikely benign
Select item 523589	NM_020754.4(ARHGAP31):c.2182C>T (p.Gln728Ter)	ARHGAP31 (Q728*)	Single nucleotide variant (nonsense)	Adams-Oliver syndrome 1	GPathogenic
Select item 499360	NM_020812.4(DOCK6):c.3562C>T (p.Gln1188Ter)	DOCK6, DOCK6-AS1 (Q1188* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 342669	NM_020754.4(ARHGAP31):c.3615C>T (p.Pro1205=)	ARHGAP31	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 342667	NM_020754.4(ARHGAP31):c.3256G>A (p.Ala1086Thr)	ARHGAP31 (A1086T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 342662	NM_020754.4(ARHGAP31):c.2778G>A (p.Ala926=)	ARHGAP31	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 1 +1 more	GBenign
Select item 342658	NM_020754.4(ARHGAP31):c.2407G>A (p.Gly803Ser)	ARHGAP31 (G803S)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 342656	NM_020754.4(ARHGAP31):c.2359C>G (p.Pro787Ala)	ARHGAP31 (P787A)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 342652	NM_020754.4(ARHGAP31):c.1926+11T>C	ARHGAP31	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 1 +1 more	GBenign
Select item 342651	NM_020754.4(ARHGAP31):c.1926+5A>G	ARHGAP31	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 1 +2 more	GBenign
Select item 342649	NM_020754.4(ARHGAP31):c.1701G>A (p.Pro567=)	ARHGAP31	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 342648	NM_020754.4(ARHGAP31):c.1700C>T (p.Pro567Leu)	ARHGAP31 (P567L)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 1 +1 more	GBenign
Select item 342647	NM_020754.4(ARHGAP31):c.1614A>G (p.Glu538=)	ARHGAP31	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 1 +1 more	GBenign
Select item 342645	NM_020754.4(ARHGAP31):c.1533A>G (p.Thr511=)	ARHGAP31	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 342644	NM_020754.4(ARHGAP31):c.1491C>A (p.Arg497=)	ARHGAP31	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 342637	NM_020754.4(ARHGAP31):c.881+7G>A	ARHGAP31	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 1 +1 more	GBenign
Select item 342633	NM_020754.4(ARHGAP31):c.540-6C>T	ARHGAP31	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 342630	NM_020754.4(ARHGAP31):c.432-7A>G	ARHGAP31	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 342629	NM_020754.4(ARHGAP31):c.384G>C (p.Leu128=)	ARHGAP31	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 1 +1 more	GBenign/Likely benign
Select item 342625	NM_020754.4(ARHGAP31):c.-38C>A	ARHGAP31	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 288159	NM_020754.4(ARHGAP31):c.2323G>A (p.Gly775Ser)	ARHGAP31 (G775S)	Single nucleotide variant (missense variant)	ARHGAP31-related condition +2 more	GConflicting classifications of pathogenicity
Select item 287160	NM_020754.4(ARHGAP31):c.654C>T (p.Asn218=)	ARHGAP31	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 1 +2 more	GBenign
Select item 285914	NM_020754.4(ARHGAP31):c.1618A>G (p.Lys540Glu)	ARHGAP31 (K540E)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 285086	NM_020754.4(ARHGAP31):c.4096G>A (p.Val1366Met)	ARHGAP31 (V1366M)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 284963	NM_020754.4(ARHGAP31):c.2364A>T (p.Pro788=)	ARHGAP31	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 283840	NM_020754.4(ARHGAP31):c.936T>C (p.Arg312=)	ARHGAP31	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 281905	NM_020754.4(ARHGAP31):c.349-7T>G	ARHGAP31	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 198582	NM_020754.4(ARHGAP31):c.820C>T (p.Pro274Ser)	ARHGAP31 (P274S)	Single nucleotide variant (missense variant)	ARHGAP31-related condition +3 more	GBenign/Likely benign
Select item 30858	NM_020754.4(ARHGAP31):c.3260del (p.Lys1087fs)	ARHGAP31 (K1087fs)	Deletion (frameshift variant)	Adams-Oliver syndrome 1	GPathogenic
Select item 30857	NM_020754.4(ARHGAP31):c.2047C>T (p.Gln683Ter)	ARHGAP31 (Q683*)	Single nucleotide variant (nonsense)	Adams-Oliver syndrome 1	GPathogenic

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Items: 60