ClinVar for MedGen (Select 1643786) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 403

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3341415	NM_001114753.3(ENG):c.1687-1G>C	ENG, LOC102723566	Single nucleotide variant (non-coding transcript variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 1	GLikely pathogenic
Select item 3242124	NM_001114753.3(ENG):c.683C>T (p.Ser228Leu)	ENG (S228L +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1	GUncertain significance
Select item 3064791	NM_001114753.3(ENG):c.816+3G>T	ENG	Single nucleotide variant (intron variant)	Telangiectasia, hereditary hemorrhagic, type 1	GLikely benign FDA Recognized database
Select item 3064429	NM_001114753.3(ENG):c.1087T>G (p.Cys363Gly)	ENG (C181G +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic
Select item 2921244	NM_001114753.3(ENG):c.1429-13C>G	ENG, LOC102723566	Single nucleotide variant (intron variant)	Telangiectasia, hereditary hemorrhagic, type 1	GUncertain significance
Select item 2921053	NM_001114753.3(ENG):c.1643G>A (p.Ser548Asn)	ENG, LOC102723566 (S366N +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1	GUncertain significance
Select item 2921006	NM_001114753.3(ENG):c.221G>C (p.Gly74Ala)	ENG (G74A)	Single nucleotide variant (missense variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 1	GUncertain significance
Select item 2683961	NM_001114753.3(ENG):c.1076T>C (p.Ile359Thr)	ENG (I177T +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1 +1 more	GUncertain significance
Select item 2683960	NM_001114753.3(ENG):c.1402G>T (p.Glu468Ter)	LOC102723566, ENG (E286* +1 more)	Single nucleotide variant (nonsense)	Telangiectasia, hereditary hemorrhagic, type 1 +1 more	GPathogenic
Select item 2675027	NM_001114753.3(ENG):c.1429-127A>G	ENG, LOC102723566	Single nucleotide variant (intron variant)	Telangiectasia, hereditary hemorrhagic, type 1	GUncertain significance
Select item 2574047	NM_001114753.3(ENG):c.991+2T>A	ENG	Single nucleotide variant (splice donor variant)	Telangiectasia, hereditary hemorrhagic, type 1	GLikely pathogenic
Select item 2441222	NM_001114753.3(ENG):c.1686G>C (p.Gln562His)	ENG, LOC102723566 (Q380H +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia +1 more	GUncertain significance
Select item 2428556	NM_001114753.3(ENG):c.579_580del (p.Leu194fs)	ENG (L12fs +1 more)	Deletion (frameshift variant)	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic
Select item 2136817	NM_001114753.3(ENG):c.1311+2T>C	ENG, LOC102723566	Single nucleotide variant (splice donor variant)	Hereditary hemorrhagic telangiectasia +1 more	GPathogenic/Likely pathogenic
Select item 1805408	NM_000021.4(PSEN1):c.308T>A (p.Val103Asp)	PSEN1 (V103D +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1	GLikely pathogenic
Select item 1803253	NM_001114753.3(ENG):c.111del (p.Glu38fs)	ENG (E38fs)	Deletion (frameshift variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 1	GLikely pathogenic
Select item 1768569	NM_001114753.3(ENG):c.990C>A (p.Cys330Ter)	ENG (C330* +1 more)	Single nucleotide variant (nonsense)	Hereditary hemorrhagic telangiectasia +2 more	GPathogenic
Select item 1733242	NM_001114753.3(ENG):c.361-2A>T	ENG	Single nucleotide variant (splice acceptor variant)	Telangiectasia, hereditary hemorrhagic, type 1 +1 more	GPathogenic
Select item 1703568	GRCh37/hg19 9q34.11(chr9:130581787-130582459)	ENG	Copy number loss	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic
Select item 1701581	NM_001114753.3(ENG):c.1121_1122delinsGC (p.Lys374Ser)	ENG (K192S +1 more)	Indel (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1699196	NM_001114753.3(ENG):c.974T>G (p.Leu325Arg)	ENG (L143R +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1	GLikely pathogenic
Select item 1679952	NM_001114753.3(ENG):c.1039A>T (p.Lys347Ter)	ENG (K165* +1 more)	Single nucleotide variant (nonsense)	Telangiectasia, hereditary hemorrhagic, type 1	GLikely pathogenic
Select item 1679485	NM_001114753.3(ENG):c.1742-28C>T	ENG, LOC102723566	Single nucleotide variant (non-coding transcript variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 1	GLikely benign
Select item 1678625	NM_001114753.3(ENG):c.1614_1615del (p.Val539fs)	ENG, LOC102723566 (V357fs +1 more)	Deletion (frameshift variant)	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic
Select item 1678571	NM_001114753.3(ENG):c.934del (p.Ala312fs)	ENG (A130fs +1 more)	Deletion (frameshift variant)	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic
Select item 1514999	NM_001114753.3(ENG):c.1263C>G (p.Ile421Met)	ENG, LOC102723566 (I239M +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1 +2 more	GUncertain significance
Select item 1447793	NM_001114753.3(ENG):c.130T>C (p.Tyr44His)	ENG (Y44H)	Single nucleotide variant (missense variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 1 +1 more	GUncertain significance
Select item 1436577	NM_001114753.3(ENG):c.503T>A (p.Ile168Asn)	ENG (I168N)	Single nucleotide variant (missense variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 1 +1 more	GUncertain significance
Select item 1428437	NM_001114753.3(ENG):c.505C>T (p.Leu169Phe)	ENG (L169F)	Single nucleotide variant (missense variant +1 more)	Hereditary hemorrhagic telangiectasia +1 more	GUncertain significance
Select item 1352569	NM_001114753.3(ENG):c.1312-3C>G	ENG, LOC102723566	Single nucleotide variant (intron variant)	Telangiectasia, hereditary hemorrhagic, type 1	GUncertain significance FDA Recognized database
Select item 1343355	NM_001114753.3(ENG):c.1686+1G>T	ENG, LOC102723566	Single nucleotide variant (splice donor variant)	Telangiectasia, hereditary hemorrhagic, type 1 +1 more	GPathogenic
Select item 1342717	NM_001114753.3(ENG):c.-126G>A	ENG	Single nucleotide variant (5 prime UTR variant)	Hereditary hemorrhagic telangiectasia +2 more	GUncertain significance
Select item 1342710	NM_001114753.3(ENG):c.790G>A (p.Asp264Asn)	ENG (D264N +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1331646	NM_001114753.3(ENG):c.1687-1G>A	ENG, LOC102723566	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1330982	NM_001114753.3(ENG):c.465dup (p.Ile156fs)	ENG (I156fs)	Duplication (frameshift variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic
Select item 1330882	NM_001114753.3(ENG):c.501C>A (p.Ser167Arg)	ENG (S167R)	Single nucleotide variant (missense variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 1	GUncertain significance
Select item 1330665	NM_001114753.3(ENG):c.689+17G>A	ENG	Single nucleotide variant (intron variant)	Telangiectasia, hereditary hemorrhagic, type 1 +1 more	GBenign/Likely benign
Select item 1330635	NM_001114753.3(ENG):c.1087T>C (p.Cys363Arg)	ENG (C181R +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1 +1 more	GPathogenic/Likely pathogenic
Select item 1330554	NM_001114753.3(ENG):c.67+6_67+14del	ENG	Deletion (intron variant)	Telangiectasia, hereditary hemorrhagic, type 1	GUncertain significance
Select item 1330519	NM_001114753.3(ENG):c.788T>G (p.Ile263Ser)	ENG (I263S +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1	GLikely pathogenic
Select item 1330476	NM_001114753.3(ENG):c.219+2T>C	ENG	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
Select item 1330389	NM_001114753.3(ENG):c.558del (p.Ser187fs)	ENG (S187fs +1 more)	Deletion (frameshift variant)	Cardiovascular phenotype +2 more	GPathogenic
Select item 1330266	NM_001114753.3(ENG):c.524-1G>A	ENG	Single nucleotide variant (splice acceptor variant)	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic
Select item 1321216	NM_001114753.3(ENG):c.673C>T (p.Pro225Ser)	ENG (P225S +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1	GUncertain significance
Select item 1320178	NM_001114753.3(ENG):c.1153del (p.Thr385fs)	ENG, LOC102723566 (T203fs +1 more)	Deletion (frameshift variant)	Telangiectasia, hereditary hemorrhagic, type 1	GLikely pathogenic
Select item 1299636	NM_001114753.3(ENG):c.296T>A (p.Leu99His)	ENG (L99H)	Single nucleotide variant (missense variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 1	GLikely pathogenic
Select item 1284778	NM_001114753.3(ENG):c.583G>A (p.Glu195Lys)	ENG (E13K +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1	GUncertain significance
Select item 1163030	NM_001114753.3(ENG):c.1429-1G>A	ENG, LOC102723566	Single nucleotide variant (non-coding transcript variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 1 +1 more	GPathogenic/Likely pathogenic
Select item 1120158	Single allele	ENG	Deletion	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic
Select item 1120157	Single allele	ENG	Deletion	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic
Select item 1120156	Single allele	ENG	Deletion	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic
Select item 1120155	Single allele	ENG	Duplication	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic
Select item 1061804	NM_001114753.3(ENG):c.889C>G (p.Gln297Glu)	ENG (Q115E +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia +2 more	GUncertain significance
Select item 1056407	NM_001114753.3(ENG):c.1730C>G (p.Pro577Arg)	ENG, LOC102723566 (P395R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemorrhagic telangiectasia +1 more	GUncertain significance
Select item 1011645	NM_001114753.3(ENG):c.149C>T (p.Ser50Leu)	ENG (S50L)	Single nucleotide variant (missense variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 995686	NM_001114753.3(ENG):c.1645T>G (p.Cys549Gly)	ENG, LOC102723566 (C367G +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1	GLikely pathogenic FDA Recognized database
Select item 995683	NM_001114753.3(ENG):c.524-13C>T	ENG	Single nucleotide variant (intron variant)	Telangiectasia, hereditary hemorrhagic, type 1 +1 more	GLikely benign
Select item 995600	NM_001114753.3(ENG):c.1807G>A (p.Gly603Arg)	ENG (G421R +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia +2 more	GConflicting classifications of pathogenicity
Select item 994342	NM_001114753.3(ENG):c.1290G>T (p.Leu430=)	ENG, LOC102723566	Single nucleotide variant (synonymous variant)	Hereditary hemorrhagic telangiectasia +2 more	GLikely benign
Select item 994240	NM_001114753.3(ENG):c.620G>T (p.Cys207Phe)	ENG (C207F +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1	GLikely pathogenic
Select item 994239	NM_001114753.3(ENG):c.618C>A (p.Gly206=)	ENG	Single nucleotide variant (synonymous variant)	Telangiectasia, hereditary hemorrhagic, type 1	GLikely benign
Select item 994140	NM_001114753.3(ENG):c.1429-8C>G	ENG, LOC102723566	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemorrhagic telangiectasia +1 more	GConflicting classifications of pathogenicity
Select item 993901	NM_001114753.3(ENG):c.1216C>G (p.Arg406Gly)	ENG, LOC102723566 (R224G +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 993863	NM_001114753.3(ENG):c.1272+2T>C	ENG, LOC102723566	Single nucleotide variant (splice donor variant)	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic
Select item 993608	NM_001114753.3(ENG):c.1977G>A (p.Ter659=)	ENG	Single nucleotide variant (synonymous variant)	Telangiectasia, hereditary hemorrhagic, type 1	GLikely benign
Select item 983210	NM_001114753.3(ENG):c.503TCC[4] (p.Leu170_Arg171insLeu)	ENG	Microsatellite (inframe_insertion +2 more)	Telangiectasia, hereditary hemorrhagic, type 1	GLikely pathogenic
Select item 983209	NM_001114753.3(ENG):c.496del (p.Gln166fs)	ENG (Q166fs)	Deletion (frameshift variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic
Select item 983208	NM_001114753.3(ENG):c.39del (p.Leu14fs)	ENG (L14fs)	Deletion (frameshift variant)	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic
Select item 983207	NM_001114753.3(ENG):c.967_968del (p.Val323fs)	ENG (V141fs +1 more)	Deletion (frameshift variant)	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic
Select item 983206	NM_001114753.3(ENG):c.923C>A (p.Ala308Asp)	ENG (A126D +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
Select item 983205	NM_001114753.3(ENG):c.620G>A (p.Cys207Tyr)	ENG (C207Y +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1	GLikely pathogenic
Select item 983204	NM_001114753.3(ENG):c.496dup (p.Gln166fs)	ENG (Q166fs)	Duplication (frameshift variant +1 more)	not provided +3 more	GPathogenic
Select item 983203	NM_001114753.3(ENG):c.370del (p.Leu124fs)	ENG (L124fs)	Deletion (frameshift variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic
Select item 983202	NM_001114753.3(ENG):c.328C>T (p.Gln110Ter)	ENG (Q110*)	Single nucleotide variant (nonsense +1 more)	Telangiectasia, hereditary hemorrhagic, type 1 +1 more	GPathogenic
Select item 983201	NM_001114753.3(ENG):c.1484T>C (p.Leu495Pro)	ENG, LOC102723566 (L313P +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 1	GLikely pathogenic
Select item 983200	NM_001114753.3(ENG):c.146del (p.Val49fs)	ENG (V49fs)	Deletion (frameshift variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic
Select item 983199	NM_001114753.3(ENG):c.1437_1456dup (p.Phe486fs)	ENG, LOC102723566 (F304fs +1 more)	Duplication (frameshift variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic
Select item 983198	NM_001114753.3(ENG):c.1411C>T (p.Gln471Ter)	ENG, LOC102723566 (Q289* +1 more)	Single nucleotide variant (nonsense)	Telangiectasia, hereditary hemorrhagic, type 1 +2 more	GPathogenic
Select item 983197	NM_001114753.3(ENG):c.1384C>T (p.Gln462Ter)	LOC102723566, ENG (Q280* +1 more)	Single nucleotide variant (nonsense)	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic
Select item 983196	NM_001114753.3(ENG):c.1365C>A (p.Tyr455Ter)	ENG, LOC102723566 (Y273* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 983195	NM_001114753.3(ENG):c.1311+5G>C	ENG, LOC102723566	Single nucleotide variant (intron variant)	Telangiectasia, hereditary hemorrhagic, type 1	GLikely pathogenic
Select item 983194	NM_001114753.3(ENG):c.1337A>G (p.Asp446Gly)	ENG, LOC102723566 (D264G +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1	GLikely benign
Select item 982496	NM_001114753.3(ENG):c.1273-2A>T	ENG, LOC102723566	Single nucleotide variant (splice acceptor variant)	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic
Select item 982495	NM_001114753.3(ENG):c.1268A>G (p.Asn423Ser)	ENG, LOC102723566 (N241S +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 982494	NM_001114753.3(ENG):c.1238G>A (p.Gly413Asp)	ENG, LOC102723566 (G231D +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1	GLikely benign
Select item 982493	NM_001114753.3(ENG):c.1183G>T (p.Glu395Ter)	ENG, LOC102723566 (E213* +1 more)	Single nucleotide variant (nonsense)	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic
Select item 982484	NM_001114753.3(ENG):c.899_901delinsC (p.Leu300fs)	ENG (L118fs +1 more)	Indel (frameshift variant)	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic
Select item 982483	NM_001114753.3(ENG):c.896T>G (p.Leu299Arg)	ENG (L117R +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1 +1 more	GLikely pathogenic
Select item 982482	NM_001114753.3(ENG):c.817-1G>A	ENG	Single nucleotide variant (splice acceptor variant)	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic
Select item 982481	NM_001114753.3(ENG):c.776T>G (p.Val259Gly)	ENG (V259G +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1	GUncertain significance
Select item 982480	NM_001114753.3(ENG):c.772del (p.Tyr258fs)	ENG (Y258fs +1 more)	Deletion (frameshift variant)	Telangiectasia, hereditary hemorrhagic, type 1 +3 more	GPathogenic
Select item 982479	NM_001114753.3(ENG):c.761_767dup (p.Pro257fs)	ENG (P257fs +1 more)	Duplication (frameshift variant)	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic
Select item 982478	NM_001114753.3(ENG):c.763G>T (p.Gly255Cys)	ENG (G255C +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1	GLikely pathogenic
Select item 982477	NM_001114753.3(ENG):c.690-2A>G	ENG	Single nucleotide variant (splice acceptor variant)	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic
Select item 982476	NM_001114753.3(ENG):c.667dup (p.Val223fs)	ENG (V223fs +1 more)	Duplication (frameshift variant)	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic
Select item 982475	NM_001114753.3(ENG):c.646A>G (p.Lys216Glu)	ENG (K216E +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 982474	NM_001114753.3(ENG):c.63dup (p.Thr22fs)	ENG (T22fs)	Duplication (frameshift variant)	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic
Select item 982473	NM_001114753.3(ENG):c.298_299del (p.Ser100fs)	ENG (S100fs)	Deletion (frameshift variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic
Select item 982472	NM_001114753.3(ENG):c.239T>C (p.Leu80Pro)	ENG (L80P)	Single nucleotide variant (missense variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 1	GUncertain significance
Select item 982471	NM_001114753.3(ENG):c.208G>T (p.Glu70Ter)	ENG (E70*)	Single nucleotide variant (nonsense +1 more)	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic

<< First< Prev

Page of 5