Related gene-specific medical variations for Gene (Select 2022) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245087	NC_000009.11:g.(?_130579560)_(130582216_?)del	ENG	Deletion	Hereditary hemorrhagic telangiectasia	GPathogenic
Select item 3245086	NC_000009.11:g.(?_130587100)_(130591583_?)del	ENG	Deletion	Hereditary hemorrhagic telangiectasia	GPathogenic
Select item 3245085	NC_000009.11:g.(?_130586573)_(130592116_?)dup	ENG	Duplication	Hereditary hemorrhagic telangiectasia	GPathogenic
Select item 3245084	NC_000009.11:g.(?_130605363)_(130605542_?)dup	ENG	Duplication	Hereditary hemorrhagic telangiectasia	GPathogenic
Select item 3245083	NC_000009.11:g.(?_130581890)_(130592750_?)del	ENG	Deletion	Hereditary hemorrhagic telangiectasia	GPathogenic
Select item 3245082	NC_000009.11:g.(?_130586573)_(130605542_?)del	ENG	Deletion	Hereditary hemorrhagic telangiectasia	GPathogenic
Select item 3245080	NC_000009.11:g.(?_130586573)_(130616761_?)del	ENG	Deletion	Hereditary hemorrhagic telangiectasia	GPathogenic
Select item 3245079	NC_000009.11:g.(?_130605363)_(130616761_?)del	ENG	Deletion	Hereditary hemorrhagic telangiectasia	GPathogenic
Select item 3245078	NC_000009.11:g.(?_130587966)_(130588153_?)del	ENG	Deletion	Hereditary hemorrhagic telangiectasia	GPathogenic
Select item 3245077	NC_000009.11:g.(?_130605353)_(130605544_?)del	ENG	Deletion	Hereditary hemorrhagic telangiectasia	GPathogenic
Select item 3232714	NM_001114753.3(ENG):c.1689del (p.Val564fs)	ENG, LOC102723566 (V382fs +1 more)	Deletion (non-coding transcript variant +1 more)	Cardiovascular phenotype	GPathogenic
Select item 3232713	NM_001114753.3(ENG):c.1647C>T (p.Cys549=)	ENG, LOC102723566	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3232712	NM_001114753.3(ENG):c.1539G>A (p.Lys513=)	ENG, LOC102723566	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3232711	NM_001114753.3(ENG):c.1500G>A (p.Glu500=)	ENG, LOC102723566	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3232710	NM_001114753.3(ENG):c.1309C>A (p.Arg437=)	ENG, LOC102723566	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
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 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 3051408	NM_001114753.3(ENG):c.1499_1512del (p.Glu500fs)	ENG, LOC102723566 (E318fs +1 more)	Deletion (frameshift variant)	ENG-related disorder	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 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 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 2996173	NM_001114753.3(ENG):c.1338C>T (p.Asp446=)	ENG, LOC102723566	Single nucleotide variant (synonymous variant)	Hereditary hemorrhagic telangiectasia	GLikely benign
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 2982263	NM_001114753.3(ENG):c.1215G>A (p.Leu405=)	ENG, LOC102723566	Single nucleotide variant (synonymous variant)	Hereditary hemorrhagic telangiectasia	GLikely benign
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 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 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 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 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 2889993	NM_001114753.3(ENG):c.1687-19CT[3]	ENG, LOC102723566	Microsatellite (intron variant +1 more)	Hereditary hemorrhagic telangiectasia	GLikely benign
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 2874603	NM_001114753.3(ENG):c.1311+18G>A	ENG, LOC102723566	Single nucleotide variant (intron variant)	Hereditary hemorrhagic telangiectasia	GLikely benign
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 2852984	NM_001114753.3(ENG):c.1135-15del	ENG, LOC102723566	Deletion (intron 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 2839189	NM_001114753.3(ENG):c.1429-23_1429-1del	ENG, LOC102723566	Deletion (splice acceptor variant)	Hereditary hemorrhagic telangiectasia	GLikely pathogenic
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 2817835	NM_001114753.3(ENG):c.1175_1176del (p.Pro392fs)	ENG, LOC102723566 (P210fs +1 more)	Deletion (frameshift 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 2763712	NM_001114753.3(ENG):c.1273G>A (p.Ala425Thr)	ENG, LOC102723566 (A243T +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia	GUncertain significance
Select item 2761232	NM_001114753.3(ENG):c.1603_1608del (p.His535_Phe536del)	ENG, LOC102723566	Deletion (inframe_deletion)	Hereditary hemorrhagic telangiectasia	GUncertain significance
Select item 2756475	NM_001114753.3(ENG):c.1180T>C (p.Cys394Arg)	ENG, LOC102723566 (C212R +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia	GPathogenic
Select item 2754789	NM_001114753.3(ENG):c.1738T>A (p.Ser580Thr)	ENG, LOC102723566 (S398T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemorrhagic telangiectasia	GUncertain significance
Select item 2752047	NM_001114753.3(ENG):c.1660C>T (p.Arg554Cys)	ENG, LOC102723566 (R554C +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 2751045	NM_001114753.3(ENG):c.1272+20del	ENG, LOC102723566	Deletion (intron variant)	Hereditary hemorrhagic telangiectasia	GBenign
Select item 2750770	NM_001114753.3(ENG):c.1720A>G (p.Ile574Val)	ENG, LOC102723566 (I574V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 2749276	NM_001114753.3(ENG):c.1687-15C>T	ENG, LOC102723566	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 2744446	NM_001114753.3(ENG):c.1648A>C (p.Thr550Pro)	ENG, LOC102723566 (T550P +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia	GUncertain significance
Select item 2735344	NM_001114753.3(ENG):c.1309C>G (p.Arg437Gly)	ENG, LOC102723566 (R255G +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia	GLikely pathogenic
Select item 2724742	NM_001114753.3(ENG):c.1612A>G (p.Thr538Ala)	ENG, LOC102723566 (T356A +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 2723947	NM_001114753.3(ENG):c.1272+2dup	ENG, LOC102723566	Duplication (splice donor variant)	Hereditary hemorrhagic telangiectasia	GUncertain significance
Select item 2721249	NM_001114753.3(ENG):c.1135-20G>A	ENG, LOC102723566	Single nucleotide variant (intron variant)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 2716244	NM_001114753.3(ENG):c.1734C>T (p.Asp578=)	ENG, LOC102723566	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 2713556	NM_001114753.3(ENG):c.1429-6A>G	ENG, LOC102723566	Single nucleotide variant (intron variant +1 more)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 2711894	NM_001114753.3(ENG):c.1685A>C (p.Gln562Pro)	ENG, LOC102723566 (Q380P +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia	GUncertain significance
Select item 2710696	NM_001114753.3(ENG):c.1414C>G (p.Gln472Glu)	ENG, LOC102723566 (Q290E +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia	GUncertain significance
Select item 2699667	NM_001114753.3(ENG):c.1361T>C (p.Leu454Pro)	ENG, LOC102723566 (L454P +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia	GUncertain significance
Select item 2699356	NM_001114753.3(ENG):c.1310G>A (p.Arg437Gln)	ENG, LOC102723566 (R255Q +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia	GLikely pathogenic
Select item 2683960	NM_001114753.3(ENG):c.1402G>T (p.Glu468Ter)	ENG, LOC102723566 (E286* +1 more)	Single nucleotide variant (nonsense)	Hereditary hemorrhagic telangiectasia +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 2637159	NM_001114753.3(ENG):c.1664_1676del (p.Pro555fs)	ENG, LOC102723566 (P373fs +1 more)	Deletion (frameshift variant)	ENG-related disorder	GLikely pathogenic
Select item 2637077	NM_001114753.3(ENG):c.1522C>T (p.Gln508Ter)	ENG, LOC102723566 (Q326* +1 more)	Single nucleotide variant (nonsense)	ENG-related disorder	GPathogenic
Select item 2566914	NM_001114753.3(ENG):c.1530G>T (p.Arg510=)	ENG, LOC102723566	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
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 2245790	NM_001114753.3(ENG):c.1301C>T (p.Ser434Leu)	ENG, LOC102723566 (S252L +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2236167	NM_001114753.3(ENG):c.1672G>C (p.Gly558Arg)	ENG, LOC102723566 (G376R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2201349	NM_001114753.3(ENG):c.1365C>T (p.Tyr455=)	ENG, LOC102723566	Single nucleotide variant (synonymous variant)	Hereditary hemorrhagic telangiectasia	GBenign
Select item 2184053	NM_001114753.3(ENG):c.1290G>A (p.Leu430=)	ENG, LOC102723566	Single nucleotide variant (synonymous variant)	Hereditary hemorrhagic telangiectasia +1 more	GLikely benign
Select item 2172411	NM_001114753.3(ENG):c.1209T>C (p.Phe403=)	ENG, LOC102723566	Single nucleotide variant (synonymous variant)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 2170905	NM_001114753.3(ENG):c.1664C>A (p.Pro555His)	ENG, LOC102723566 (P373H +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia	GUncertain significance
Select item 2170579	NM_001114753.3(ENG):c.1428+20C>A	ENG, LOC102723566	Single nucleotide variant (intron variant +1 more)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 2164877	NM_001114753.3(ENG):c.1273-14C>T	ENG, LOC102723566	Single nucleotide variant (intron variant)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 2162710	NM_001114753.3(ENG):c.1742-16C>T	ENG, LOC102723566	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemorrhagic telangiectasia	GBenign
Select item 2161109	NM_001114753.3(ENG):c.1429-8C>T	ENG, LOC102723566	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GLikely benign
Select item 2159111	NM_001114753.3(ENG):c.1673G>A (p.Gly558Glu)	LOC102723566, ENG (G376E +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia	GUncertain significance
Select item 2153734	NM_001114753.3(ENG):c.1711C>A (p.Arg571Ser)	ENG, LOC102723566 (R571S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemorrhagic telangiectasia	GUncertain significance
Select item 2152857	NM_001114753.3(ENG):c.1573G>A (p.Glu525Lys)	ENG, LOC102723566 (E343K +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 2152061	NM_001114753.3(ENG):c.1311+1G>A	ENG, LOC102723566	Single nucleotide variant (splice donor variant)	Hereditary hemorrhagic telangiectasia	GPathogenic
Select item 2149342	NM_001114753.3(ENG):c.1453G>A (p.Glu485Lys)	ENG, LOC102723566 (E303K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemorrhagic telangiectasia	GUncertain significance
Select item 2146097	NM_001114753.3(ENG):c.1311+15C>T	ENG, LOC102723566	Single nucleotide variant (intron variant)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 2145901	NM_001114753.3(ENG):c.1312-19C>T	ENG, LOC102723566	Single nucleotide variant (intron variant)	Hereditary hemorrhagic telangiectasia	GLikely benign
Select item 2136817	NM_001114753.3(ENG):c.1311+2T>C	ENG, LOC102723566	Single nucleotide variant (splice donor variant)	Hereditary hemorrhagic telangiectasia	GPathogenic/Likely pathogenic
Select item 2136816	NM_001114753.3(ENG):c.1414C>T (p.Gln472Ter)	ENG, LOC102723566 (Q290* +1 more)	Single nucleotide variant (nonsense)	Hereditary hemorrhagic telangiectasia	GPathogenic
Select item 2136815	NM_001114753.3(ENG):c.1583dup (p.Arg529fs)	ENG, LOC102723566 (R529fs +1 more)	Duplication (frameshift variant)	Hereditary hemorrhagic telangiectasia	GPathogenic
Select item 2120044	NM_001114753.3(ENG):c.1214T>C (p.Leu405Ser)	ENG, LOC102723566 (L405S +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia	GLikely pathogenic
Select item 2092377	NM_001114753.3(ENG):c.1741+8C>A	ENG, LOC102723566	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemorrhagic telangiectasia	GLikely benign

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