ClinVar for MedGen (Select 52657) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 1174

<< First< Prev

Page of 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3076067	NM_000020.3(ACVRL1):c.852_853del (p.Tyr286fs)	ACVRL1 (Y182fs +2 more)	Deletion (frameshift variant)	Hereditary hemorrhagic telangiectasia	GLikely pathogenic
Select item 3076019	NM_000020.3(ACVRL1):c.404del (p.Leu135fs)	ACVRL1 (L135fs)	Deletion (frameshift variant +1 more)	Hereditary hemorrhagic telangiectasia	GLikely pathogenic
Select item 3068695	NM_001114753.3(ENG):c.903_904dup (p.Glu302fs)	ENG (E120fs +1 more)	Duplication (frameshift variant)	Hereditary hemorrhagic telangiectasia	GPathogenic
Select item 3068686	NM_000020.3(ACVRL1):c.1247-7T>G	ACVRL1	Single nucleotide variant (intron variant)	Hereditary hemorrhagic telangiectasia	GUncertain significance
Select item 3068667	NM_001114753.3(ENG):c.774del (p.Pro257_Tyr258insTer)	ENG	Deletion (nonsense)	Hereditary hemorrhagic telangiectasia	GPathogenic
Select item 3068661	NM_000020.3(ACVRL1):c.1362del (p.Leu455fs)	ACVRL1 (L267fs +4 more)	Deletion (frameshift variant)	Hereditary hemorrhagic telangiectasia	GLikely pathogenic
Select item 3068655	NM_001114753.3(ENG):c.361-4_361-3delinsAG	ENG	Indel (intron variant)	Hereditary hemorrhagic telangiectasia	GUncertain significance
Select item 3068644	NM_000020.3(ACVRL1):c.988G>C (p.Asp330His)	ACVRL1 (D142H +2 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia	GLikely pathogenic
Select item 3068570	NM_000020.3(ACVRL1):c.1359_1360delinsT (p.Arg454fs)	ACVRL1 (R266fs +4 more)	Indel (frameshift variant)	Hereditary hemorrhagic telangiectasia	GLikely pathogenic
Select item 3068568	NM_001114753.3(ENG):c.1280T>G (p.Val427Gly)	ENG, LOC102723566 (V245G +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia	GLikely pathogenic
Select item 3020149	NM_001114753.3(ENG):c.1709T>C (p.Met570Thr)	ENG, LOC102723566 (M570T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemorrhagic telangiectasia	GUncertain significance
Select item 3018891	NM_001114753.3(ENG):c.1748C>T (p.Thr583Ile)	ENG (T401I +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia	GUncertain significance
Select item 3018469	NM_001114753.3(ENG):c.998G>A (p.Arg333Lys)	ENG (R151K +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 3018451	NM_001114753.3(ENG):c.1583C>G (p.Pro528Arg)	ENG, LOC102723566 (P528R +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia	GBenign
Select item 3017339	NM_001114753.3(ENG):c.220-11G>C	ENG	Single nucleotide variant (intron variant)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 3015554	NM_001114753.3(ENG):c.1273-18C>T	ENG, LOC102723566	Single nucleotide variant (intron variant)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 3011098	NM_001114753.3(ENG):c.1711C>G (p.Arg571Gly)	ENG, LOC102723566 (R389G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemorrhagic telangiectasia	GUncertain significance
Select item 2999407	NM_001114753.3(ENG):c.1852C>G (p.Arg618Gly)	ENG (R436G +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia	GUncertain significance
Select item 2996173	NM_001114753.3(ENG):c.1338C>T (p.Asp446=)	ENG, LOC102723566	Single nucleotide variant (synonymous variant)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 2990568	NM_001114753.3(ENG):c.712G>T (p.Val238Leu)	ENG (V238L +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia	GUncertain significance
Select item 2987809	NM_001114753.3(ENG):c.1161G>C (p.Leu387=)	ENG, LOC102723566	Single nucleotide variant (synonymous variant)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 2987400	NM_001114753.3(ENG):c.1230C>T (p.Ser410=)	ENG, LOC102723566	Single nucleotide variant (synonymous variant)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 2985385	NM_001114753.3(ENG):c.1135-4C>T	ENG, LOC102723566	Single nucleotide variant (intron variant)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 2983241	NM_001114753.3(ENG):c.268_274del (p.Thr90fs)	ENG (T90fs)	Deletion (frameshift variant +1 more)	Hereditary hemorrhagic telangiectasia	GPathogenic
Select item 2982263	NM_001114753.3(ENG):c.1215G>A (p.Leu405=)	ENG, LOC102723566	Single nucleotide variant (synonymous variant)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 2980545	NM_001114753.3(ENG):c.536T>C (p.Leu179Pro)	ENG (L179P)	Single nucleotide variant (missense variant +1 more)	Hereditary hemorrhagic telangiectasia	GUncertain significance
Select item 2974763	NM_001114753.3(ENG):c.1311+13G>A	ENG, LOC102723566	Single nucleotide variant (intron variant)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 2974140	NM_001114753.3(ENG):c.32C>T (p.Ala11Val)	ENG (A11V)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia	GUncertain significance
Select item 2971152	NM_001114753.3(ENG):c.585G>C (p.Glu195Asp)	ENG (E195D +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia	GBenign
Select item 2970964	NM_001114753.3(ENG):c.523+18C>T	ENG	Single nucleotide variant (intron variant)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 2965041	NM_001114753.3(ENG):c.1773C>T (p.Ala591=)	ENG	Single nucleotide variant (synonymous variant)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 2958698	NM_001114753.3(ENG):c.689+11C>T	ENG	Single nucleotide variant (intron variant)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 2957089	NM_001114753.3(ENG):c.1223C>T (p.Ala408Val)	ENG, LOC102723566 (A226V +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia	GUncertain significance
Select item 2956237	NM_001114753.3(ENG):c.1022T>C (p.Ile341Thr)	ENG (I341T +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 2920123	NM_001114753.3(ENG):c.689+15C>A	ENG	Single nucleotide variant (intron variant)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 2920097	NM_001114753.3(ENG):c.1600C>T (p.Leu534Phe)	ENG, LOC102723566 (L534F +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia	GUncertain significance
Select item 2919503	NM_001114753.3(ENG):c.1686+15G>A	ENG, LOC102723566	Single nucleotide variant (intron variant)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 2917781	NM_001114753.3(ENG):c.1312-16T>G	ENG, LOC102723566	Single nucleotide variant (intron variant)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 2916454	NM_001114753.3(ENG):c.-123G>A	ENG	Single nucleotide variant (5 prime UTR variant)	Hereditary hemorrhagic telangiectasia	GUncertain significance
Select item 2916334	NM_001114753.3(ENG):c.817-3T>C	ENG	Single nucleotide variant (intron variant)	Hereditary hemorrhagic telangiectasia	GUncertain significance
Select item 2913043	NM_001114753.3(ENG):c.1271A>T (p.Glu424Val)	ENG, LOC102723566 (E424V +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia	GUncertain significance
Select item 2912275	NM_001114753.3(ENG):c.1695T>G (p.His565Gln)	ENG, LOC102723566 (H565Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 2906019	NM_001114753.3(ENG):c.1401C>T (p.Ile467=)	ENG, LOC102723566	Single nucleotide variant (synonymous variant)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 2903586	NM_001114753.3(ENG):c.1272+10G>A	ENG, LOC102723566	Single nucleotide variant (intron variant)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 2903407	NM_001114753.3(ENG):c.1509C>T (p.Thr503=)	ENG, LOC102723566	Single nucleotide variant (synonymous variant)	Hereditary hemorrhagic telangiectasia	GBenign
Select item 2902569	NM_001114753.3(ENG):c.720G>A (p.Leu240=)	ENG	Single nucleotide variant (synonymous variant)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 2901582	NM_001114753.3(ENG):c.1852+21C>T	ENG (Q625*)	Single nucleotide variant (intron variant +1 more)	Hereditary hemorrhagic telangiectasia	GUncertain significance
Select item 2899112	NM_001114753.3(ENG):c.689+21_689+22del	ENG	Deletion (intron variant)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 2898684	NM_001114753.3(ENG):c.457A>G (p.Arg153Gly)	ENG (R153G)	Single nucleotide variant (missense variant +1 more)	Hereditary hemorrhagic telangiectasia	GUncertain significance
Select item 2896478	NM_001114753.3(ENG):c.816+20C>T	ENG	Single nucleotide variant (intron variant)	Hereditary hemorrhagic telangiectasia	GBenign
Select item 2892120	NM_001114753.3(ENG):c.789C>T (p.Ile263=)	ENG	Single nucleotide variant (synonymous variant)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 2890817	NM_001114753.3(ENG):c.96T>C (p.Leu32=)	ENG	Single nucleotide variant (synonymous variant +1 more)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 2889993	NM_001114753.3(ENG):c.1687-19CT[3]	ENG, LOC102723566	Microsatellite (intron variant +1 more)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 2889892	NM_001114753.3(ENG):c.524-14G>C	ENG	Single nucleotide variant (intron variant)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 2886995	NM_001114753.3(ENG):c.690-5C>A	ENG	Single nucleotide variant (intron variant)	Hereditary hemorrhagic telangiectasia	GUncertain significance
Select item 2883800	NM_001114753.3(ENG):c.428A>C (p.Lys143Thr)	ENG (K143T)	Single nucleotide variant (missense variant +1 more)	Hereditary hemorrhagic telangiectasia	GUncertain significance
Select item 2881629	NM_001114753.3(ENG):c.1278G>C (p.Val426=)	ENG, LOC102723566	Single nucleotide variant (synonymous variant)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 2878401	NM_001114753.3(ENG):c.1256G>C (p.Ser419Thr)	ENG, LOC102723566 (S419T +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia	GUncertain significance
Select item 2876242	NM_001114753.3(ENG):c.1428+11T>C	ENG, LOC102723566	Single nucleotide variant (intron variant +1 more)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 2875303	NM_001114753.3(ENG):c.16C>T (p.Leu6Phe)	ENG (L6F)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia	GUncertain significance
Select item 2874603	NM_001114753.3(ENG):c.1311+18G>A	ENG, LOC102723566	Single nucleotide variant (intron variant)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 2866213	NM_001114753.3(ENG):c.67+20G>T	ENG	Single nucleotide variant (intron variant)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 2865901	NM_001114753.3(ENG):c.266G>C (p.Gly89Ala)	ENG (G89A)	Single nucleotide variant (missense variant +1 more)	Hereditary hemorrhagic telangiectasia	GUncertain significance
Select item 2865611	NM_001114753.3(ENG):c.690-18G>A	ENG	Single nucleotide variant (intron variant)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 2861637	NM_001114753.3(ENG):c.825A>G (p.Gly275=)	ENG	Single nucleotide variant (synonymous variant)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 2859548	NM_001114753.3(ENG):c.1051_1052del (p.Ser351fs)	ENG (S351fs +1 more)	Deletion (frameshift variant)	Hereditary hemorrhagic telangiectasia	GPathogenic
Select item 2857564	NM_001114753.3(ENG):c.1429-3C>T	ENG, LOC102723566	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemorrhagic telangiectasia	GUncertain significance
Select item 2856634	NM_001114753.3(ENG):c.955_956insGAAGACAA (p.Leu319fs)	ENG (L319fs +1 more)	Insertion (frameshift variant)	Hereditary hemorrhagic telangiectasia	GPathogenic
Select item 2855284	NM_001114753.3(ENG):c.636G>A (p.Val212=)	ENG	Single nucleotide variant (synonymous variant)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 2854194	NM_001114753.3(ENG):c.1114C>T (p.Leu372=)	ENG	Single nucleotide variant (synonymous variant)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 2852984	NM_001114753.3(ENG):c.1135-15del	ENG, LOC102723566	Deletion (intron variant)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 2850534	NM_001114753.3(ENG):c.512G>T (p.Arg171Leu)	ENG (R171L)	Single nucleotide variant (missense variant +1 more)	Hereditary hemorrhagic telangiectasia	GUncertain significance
Select item 2849383	NM_001114753.3(ENG):c.67A>C (p.Ser23Arg)	ENG (S23R)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia	GUncertain significance
Select item 2848297	NM_001114753.3(ENG):c.561C>A (p.Ser187Arg)	ENG (S187R +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 2848235	NM_001114753.3(ENG):c.331G>A (p.Ala111Thr)	ENG (A111T)	Single nucleotide variant (missense variant +1 more)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 2847718	NM_001114753.3(ENG):c.1092C>G (p.Ala364=)	ENG	Single nucleotide variant (synonymous variant)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 2847382	NM_001114753.3(ENG):c.1135-10del	ENG, LOC102723566	Deletion (intron variant)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 2845766	NM_001114753.3(ENG):c.1242G>C (p.Met414Ile)	ENG, LOC102723566 (M414I +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia	GUncertain significance
Select item 2844383	NM_001114753.3(ENG):c.219+20G>T	ENG	Single nucleotide variant (intron variant)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 2839189	NM_001114753.3(ENG):c.1429-23_1429-1del	ENG, LOC102723566	Deletion (splice acceptor variant)	Hereditary hemorrhagic telangiectasia	GLikely pathogenic
Select item 2836033	NM_001114753.3(ENG):c.65_67+19del	ENG	Deletion (splice donor variant)	Hereditary hemorrhagic telangiectasia	GLikely pathogenic
Select item 2836007	NM_001114753.3(ENG):c.754_756del (p.Ile252del)	ENG (I252del +1 more)	Deletion (inframe_deletion)	Hereditary hemorrhagic telangiectasia	GPathogenic
Select item 2833519	NM_001114753.3(ENG):c.1350C>T (p.Phe450=)	ENG, LOC102723566	Single nucleotide variant (synonymous variant)	Hereditary hemorrhagic telangiectasia	GUncertain significance
Select item 2832743	NM_001114753.3(ENG):c.895C>G (p.Leu299Val)	ENG (L299V +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia	GLikely pathogenic
Select item 2826616	NM_001114753.3(ENG):c.965_966del (p.Ile322fs)	ENG (I140fs +1 more)	Deletion (frameshift variant)	Hereditary hemorrhagic telangiectasia	GPathogenic
Select item 2823490	NM_001114753.3(ENG):c.716A>T (p.Glu239Val)	ENG (E239V +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia	GUncertain significance
Select item 2822240	NM_001114753.3(ENG):c.943G>T (p.Val315Leu)	ENG (V133L +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia	GUncertain significance
Select item 2820353	NM_001114753.3(ENG):c.41del (p.Leu14fs)	ENG (L14fs)	Deletion (frameshift variant)	Hereditary hemorrhagic telangiectasia	GPathogenic
Select item 2817835	NM_001114753.3(ENG):c.1175_1176del (p.Pro392fs)	ENG, LOC102723566 (P210fs +1 more)	Deletion (frameshift variant)	Hereditary hemorrhagic telangiectasia	GPathogenic
Select item 2814988	NM_001114753.3(ENG):c.441T>A (p.Leu147=)	ENG	Single nucleotide variant (synonymous variant +1 more)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 2813249	NM_001114753.3(ENG):c.389C>T (p.Pro130Leu)	ENG (P130L)	Single nucleotide variant (missense variant +1 more)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 2807126	NM_001114753.3(ENG):c.1134+12C>T	ENG	Single nucleotide variant (intron variant +1 more)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 2790195	NM_001114753.3(ENG):c.1852+23G>A	ENG	Single nucleotide variant (synonymous variant +1 more)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 2789096	NM_001114753.3(ENG):c.15G>A (p.Thr5=)	ENG	Single nucleotide variant (synonymous variant)	Hereditary hemorrhagic telangiectasia	GBenign
Select item 2787287	NM_001114753.3(ENG):c.1050T>C (p.Cys350=)	ENG	Single nucleotide variant (synonymous variant)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 2780947	NM_001114753.3(ENG):c.991+1del	ENG	Deletion (splice donor variant)	Hereditary hemorrhagic telangiectasia	GPathogenic
Select item 2778755	NM_001114753.3(ENG):c.1273-19C>T	ENG, LOC102723566	Single nucleotide variant (intron variant)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 2777154	NM_001114753.3(ENG):c.674C>A (p.Pro225Gln)	ENG (P225Q +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 2770418	NM_001114753.3(ENG):c.982T>A (p.Ser328Thr)	ENG (S146T +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia	GUncertain significance
Select item 2767511	NM_001114753.3(ENG):c.1852+20A>G	ENG	Single nucleotide variant (synonymous variant +1 more)	Hereditary hemorrhagic telangiectasia	GBenign

<< First< Prev

Page of 12