ClinVar for MedGen (Select 324960) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382906	NM_000020.3(ACVRL1):c.525+3A>T	ACVRL1	Single nucleotide variant (intron variant)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely pathogenic
Select item 3381198	ACVRL1, ARG67TRP	ACVRL1	Single nucleotide variant	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 3377243	NM_000020.3(ACVRL1):c.822G>C (p.Trp274Cys)	ACVRL1 (W170C +2 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GUncertain significance
Select item 3340443	NM_000020.3(ACVRL1):c.154_169del (p.Thr52fs)	ACVRL1 (T52fs)	Deletion (frameshift variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 3338273	NM_000020.3(ACVRL1):c.626-1G>T	ACVRL1	Single nucleotide variant (splice acceptor variant)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely pathogenic
Select item 3244311	NC_000012.11:g.(?_52308317)_(52322674_?)del	ACVRL1	Deletion	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 3244310	NC_000012.11:g.(?_52307805)_(52315735_?)del	ACVRL1	Deletion	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 3244309	NC_000012.11:g.(?_52301495)_(52307461_?)del	ACVRL1	Deletion	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 3244308	NC_000012.11:g.(?_52297387)_(52306941_?)del	ACVRL1	Deletion	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 3244307	NC_000012.11:g.(?_52306259)_(52309304_?)del	ACVRL1	Deletion	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 3064793	NM_000020.3(ACVRL1):c.620del (p.Cys207fs)	ACVRL1 (C207fs)	Deletion (frameshift variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic FDA Recognized database
Select item 3064792	NM_000020.3(ACVRL1):c.442_444del (p.Glu148del)	ACVRL1 (E148del)	Deletion (inframe_deletion +1 more)	Telangiectasia, hereditary hemorrhagic, type 2	GUncertain significance FDA Recognized database
Select item 3022083	NM_000020.3(ACVRL1):c.1049-9C>T	ACVRL1	Single nucleotide variant (intron variant)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely benign
Select item 3021298	NM_000020.3(ACVRL1):c.721C>T (p.Arg241Trp)	ACVRL1 (R241W +2 more)	Single nucleotide variant (missense variant)	Heritable pulmonary arterial hypertension +1 more	GUncertain significance
Select item 3015054	NM_000020.3(ACVRL1):c.1467A>G (p.Leu489=)	ACVRL1	Single nucleotide variant (synonymous variant)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely benign
Select item 2994660	NM_000020.3(ACVRL1):c.1247-13T>G	ACVRL1	Single nucleotide variant (intron variant)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely benign
Select item 2982311	NM_000020.3(ACVRL1):c.100T>A (p.Cys34Ser)	ACVRL1 (C34S)	Single nucleotide variant (missense variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 2972698	NM_000020.3(ACVRL1):c.806C>A (p.Ser269Ter)	ACVRL1 (S269* +2 more)	Single nucleotide variant (nonsense)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 2965106	NM_000020.3(ACVRL1):c.314-13C>T	ACVRL1	Single nucleotide variant (intron variant)	Telangiectasia, hereditary hemorrhagic, type 2	GBenign
Select item 2964263	NM_000020.3(ACVRL1):c.843G>A (p.Glu281=)	ACVRL1	Single nucleotide variant (synonymous variant)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely benign
Select item 2921190	NM_000020.3(ACVRL1):c.1211T>A (p.Val404Glu)	ACVRL1 (V404E +2 more)	Single nucleotide variant (intron variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 2	GUncertain significance
Select item 2921145	NM_000020.3(ACVRL1):c.1378-49C>T	ACVRL1	Single nucleotide variant (intron variant)	Telangiectasia, hereditary hemorrhagic, type 2	GBenign
Select item 2920898	NM_000020.3(ACVRL1):c.1377+55T>C	ACVRL1 (F374L +1 more)	Single nucleotide variant (intron variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely benign
Select item 2920874	NM_000020.3(ACVRL1):c.1378-297T>A	ACVRL1	Single nucleotide variant (intron variant)	Telangiectasia, hereditary hemorrhagic, type 2	GUncertain significance
Select item 2920811	NM_000020.3(ACVRL1):c.1377+745G>A	ACVRL1	Single nucleotide variant (3 prime UTR variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 2	GBenign
Select item 2920546	NM_000020.3(ACVRL1):c.1049-16G>A	ACVRL1	Single nucleotide variant (intron variant)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely benign
Select item 2917884	NM_000020.3(ACVRL1):c.1443C>G (p.Thr481=)	ACVRL1	Single nucleotide variant (synonymous variant)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely benign
Select item 2912481	NM_000020.3(ACVRL1):c.1464A>C (p.Thr488=)	ACVRL1	Single nucleotide variant (synonymous variant)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely benign
Select item 2912220	NM_000020.3(ACVRL1):c.1377+20T>G	ACVRL1 (L466R +1 more)	Single nucleotide variant (missense variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely benign
Select item 2910313	NM_000020.3(ACVRL1):c.1199C>T (p.Ala400Val)	ACVRL1 (A212V +2 more)	Single nucleotide variant (missense variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 2905206	NM_000020.3(ACVRL1):c.919del (p.Ala307fs)	ACVRL1 (A307fs +2 more)	Deletion (frameshift variant)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 2897507	NM_000020.3(ACVRL1):c.909T>C (p.Ala303=)	ACVRL1	Single nucleotide variant (synonymous variant)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely benign
Select item 2893627	NM_000020.3(ACVRL1):c.314-19C>T	ACVRL1	Single nucleotide variant (intron variant)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely benign
Select item 2893231	NM_000020.3(ACVRL1):c.625+20G>A	ACVRL1	Single nucleotide variant (intron variant)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely benign
Select item 2890103	NM_000020.3(ACVRL1):c.1191C>T (p.Asp397=)	ACVRL1	Single nucleotide variant (synonymous variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely benign
Select item 2884718	NM_000020.3(ACVRL1):c.763A>G (p.Asn255Asp)	ACVRL1 (N151D +2 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GUncertain significance
Select item 2868535	NM_000020.3(ACVRL1):c.1048+2T>C	ACVRL1	Single nucleotide variant (splice donor variant)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 2861320	NM_000020.3(ACVRL1):c.1444G>C (p.Ala482Pro)	ACVRL1 (A294P +4 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GUncertain significance
Select item 2856667	NM_000020.3(ACVRL1):c.913_916del (p.Ser305fs)	ACVRL1 (S201fs +2 more)	Deletion (frameshift variant)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 2856658	NM_000020.3(ACVRL1):c.320_323dup (p.Pro109fs)	ACVRL1 (P109fs)	Duplication (frameshift variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 2856477	NM_000020.3(ACVRL1):c.772+14_772+16delinsTAG	ACVRL1	Indel (intron variant)	Telangiectasia, hereditary hemorrhagic, type 2	GUncertain significance
Select item 2849898	NM_000020.3(ACVRL1):c.61+14G>A	ACVRL1	Single nucleotide variant (intron variant)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely benign
Select item 2844474	NM_000020.3(ACVRL1):c.1246+16A>C	ACVRL1	Single nucleotide variant (intron variant)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely benign
Select item 2841771	NM_000020.3(ACVRL1):c.851_905del (p.Gly283_Ser284insTer)	ACVRL1	Deletion (nonsense)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 2841312	NM_000020.3(ACVRL1):c.789del (p.Asp263fs)	ACVRL1 (D159fs +2 more)	Deletion (frameshift variant)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 2837341	NM_000020.3(ACVRL1):c.1403T>G (p.Met468Arg)	ACVRL1 (M468R +4 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GUncertain significance
Select item 2831793	NM_000020.3(ACVRL1):c.191dup (p.Glu65fs)	ACVRL1 (E65fs)	Duplication (frameshift variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 2820868	NM_000020.3(ACVRL1):c.761ACA[1] (p.Asn255del)	ACVRL1 (N151del +2 more)	Microsatellite (inframe_deletion)	Telangiectasia, hereditary hemorrhagic, type 2	GUncertain significance
Select item 2819838	NM_000020.3(ACVRL1):c.199del (p.Arg67fs)	ACVRL1 (R67fs)	Deletion (frameshift variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 2817915	NM_000020.3(ACVRL1):c.1042G>C (p.Asp348His)	ACVRL1 (D348H +2 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 2815830	NM_000020.3(ACVRL1):c.670G>T (p.Glu224Ter)	ACVRL1 (E120* +2 more)	Single nucleotide variant (nonsense)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 2811227	NM_000020.3(ACVRL1):c.1411T>C (p.Cys471Arg)	ACVRL1 (C367R +4 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 2810923	NM_000020.3(ACVRL1):c.1327T>G (p.Cys443Gly)	ACVRL1 (C273G +4 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GUncertain significance
Select item 2810344	NM_000020.3(ACVRL1):c.525+14_525+21del	ACVRL1	Deletion (intron variant)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely benign
Select item 2805884	NM_000020.3(ACVRL1):c.1188T>C (p.Thr396=)	ACVRL1	Single nucleotide variant (synonymous variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely benign
Select item 2801598	NM_000020.3(ACVRL1):c.1378-4C>G	ACVRL1	Single nucleotide variant (intron variant)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely benign
Select item 2769764	NM_000020.3(ACVRL1):c.983A>G (p.His328Arg)	ACVRL1 (H224R +2 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely pathogenic
Select item 2765317	NM_000020.3(ACVRL1):c.281T>C (p.Leu94Pro)	ACVRL1 (L94P)	Single nucleotide variant (missense variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 2	GUncertain significance
Select item 2764965	NM_000020.3(ACVRL1):c.376del (p.Val126fs)	ACVRL1 (V126fs)	Deletion (frameshift variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 2762912	NM_000020.3(ACVRL1):c.286A>C (p.Asn96His)	ACVRL1 (N96H)	Single nucleotide variant (missense variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 2754837	NM_000020.3(ACVRL1):c.935A>C (p.His312Pro)	ACVRL1 (H124P +2 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely pathogenic
Select item 2750999	NM_000020.3(ACVRL1):c.1055C>T (p.Ala352Val)	ACVRL1 (A248V +2 more)	Single nucleotide variant (missense variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely pathogenic
Select item 2748456	NM_000020.3(ACVRL1):c.1136A>G (p.Glu379Gly)	ACVRL1 (E275G +2 more)	Single nucleotide variant (missense variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely pathogenic
Select item 2748217	NM_000020.3(ACVRL1):c.303_313+2del	ACVRL1	Deletion (splice donor variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 2745281	NM_000020.3(ACVRL1):c.589A>G (p.Thr197Ala)	ACVRL1 (T197A)	Single nucleotide variant (missense variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 2	GUncertain significance
Select item 2742514	NM_000020.3(ACVRL1):c.1048+7C>T	ACVRL1	Single nucleotide variant (intron variant)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely benign
Select item 2735880	NM_000020.3(ACVRL1):c.1445C>A (p.Ala482Glu)	ACVRL1 (A482E +4 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 2735879	NM_000020.3(ACVRL1):c.1396C>T (p.Gln466Ter)	ACVRL1 (Q296* +4 more)	Single nucleotide variant (nonsense)	Telangiectasia, hereditary hemorrhagic, type 2 +1 more	GPathogenic
Select item 2735875	NM_000020.3(ACVRL1):c.1133C>T (p.Pro378Leu)	ACVRL1 (P274L +2 more)	Single nucleotide variant (missense variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 2 +1 more	GPathogenic/Likely pathogenic
Select item 2735873	NM_000020.3(ACVRL1):c.1133C>A (p.Pro378His)	ACVRL1 (P190H +2 more)	Single nucleotide variant (missense variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 2735872	NM_000020.3(ACVRL1):c.1039G>C (p.Ala347Pro)	ACVRL1 (A347P +2 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2 +1 more	GLikely pathogenic
Select item 2735871	NM_000020.3(ACVRL1):c.686A>G (p.Lys229Arg)	ACVRL1 (K41R +2 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely pathogenic
Select item 2735870	NM_000020.3(ACVRL1):c.670G>A (p.Glu224Lys)	ACVRL1 (E36K +2 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 2735869	NM_000020.3(ACVRL1):c.631G>A (p.Gly211Ser)	ACVRL1 (G107S +2 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 2735868	NM_000020.3(ACVRL1):c.583C>T (p.Gln195Ter)	ACVRL1 (Q195*)	Single nucleotide variant (nonsense +1 more)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 2735867	NM_000020.3(ACVRL1):c.526G>T (p.Asp176Tyr)	ACVRL1 (D176Y)	Single nucleotide variant (missense variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely pathogenic
Select item 2735866	NM_000020.3(ACVRL1):c.525+3A>G	ACVRL1	Single nucleotide variant (intron variant)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 2735865	NM_000020.3(ACVRL1):c.525+1G>C	ACVRL1	Single nucleotide variant (splice donor variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 2733553	NM_000020.3(ACVRL1):c.495A>G (p.Lys165=)	ACVRL1	Single nucleotide variant (synonymous variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely benign
Select item 2733110	NM_000020.3(ACVRL1):c.314-16T>C	ACVRL1	Single nucleotide variant (intron variant)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely benign
Select item 2731545	NM_000020.3(ACVRL1):c.830C>T (p.Thr277Met)	ACVRL1 (T89M +2 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely pathogenic
Select item 2730926	NM_000020.3(ACVRL1):c.586A>G (p.Arg196Gly)	ACVRL1 (R196G)	Single nucleotide variant (missense variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 2	GUncertain significance
Select item 2729817	NM_000020.3(ACVRL1):c.1378-131C>T	ACVRL1	Single nucleotide variant (intron variant)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely benign
Select item 2728369	NM_000020.3(ACVRL1):c.576C>G (p.Phe192Leu)	ACVRL1 (F192L)	Single nucleotide variant (missense variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 2	GUncertain significance
Select item 2726055	NM_000020.3(ACVRL1):c.1378-11C>T	ACVRL1	Single nucleotide variant (intron variant)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely benign
Select item 2725001	NM_000020.3(ACVRL1):c.633C>T (p.Gly211=)	ACVRL1	Single nucleotide variant (synonymous variant)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely benign
Select item 2720403	NM_000020.3(ACVRL1):c.772+27G>A	ACVRL1	Single nucleotide variant (intron variant)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely benign
Select item 2719281	NM_000020.3(ACVRL1):c.625+3G>C	ACVRL1	Single nucleotide variant (intron variant)	Telangiectasia, hereditary hemorrhagic, type 2	GUncertain significance
Select item 2718224	NM_000020.3(ACVRL1):c.205T>G (p.Cys69Gly)	ACVRL1 (C69G)	Single nucleotide variant (missense variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely pathogenic
Select item 2718199	NM_000020.3(ACVRL1):c.626-16C>T	ACVRL1	Single nucleotide variant (intron variant)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely benign
Select item 2716984	NM_000020.3(ACVRL1):c.180G>A (p.Gly60=)	ACVRL1	Single nucleotide variant (synonymous variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely benign
Select item 2715104	NM_000020.3(ACVRL1):c.1246+11A>G	ACVRL1	Single nucleotide variant (intron variant)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely benign
Select item 2713671	NM_000020.3(ACVRL1):c.1229G>A (p.Arg410His)	ACVRL1 (R306H +2 more)	Single nucleotide variant (missense variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 2	GUncertain significance
Select item 2712059	NM_000020.3(ACVRL1):c.1378-69C>T	ACVRL1	Single nucleotide variant (intron variant)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely benign
Select item 2710128	NM_000020.3(ACVRL1):c.1008_1009del (p.Leu337fs)	ACVRL1 (L233fs +2 more)	Deletion (frameshift variant)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 2710032	NM_000020.3(ACVRL1):c.1444G>A (p.Ala482Thr)	ACVRL1 (A312T +4 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GUncertain significance
Select item 2708757	NM_000020.3(ACVRL1):c.1261T>A (p.Tyr421Asn)	ACVRL1 (Y233N +4 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely pathogenic
Select item 2706028	NM_000020.3(ACVRL1):c.1426_1428del (p.Pro476del)	ACVRL1 (P288del +4 more)	Deletion (inframe_deletion)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic
Select item 2704790	NM_000020.3(ACVRL1):c.1040_1042dup (p.Ala347_Asp348insAla)	ACVRL1	Duplication (inframe_insertion)	Telangiectasia, hereditary hemorrhagic, type 2	GUncertain significance
Select item 2700577	NM_000020.3(ACVRL1):c.1038C>G (p.Ile346Met)	ACVRL1 (I158M +2 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GUncertain significance

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