ClinVar (all) for Orgtrack (Select 509488) - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 1948619	NM_000020.3(ACVRL1):c.113G>A (p.Ser38Asn)	ACVRL1 (S38N)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GUncertain significance FDA Recognized database
Select item 1744752	NM_000020.3(ACVRL1):c.500C>G (p.Ser167Cys)	ACVRL1 (S167C)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GUncertain significance FDA Recognized database
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 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 994236	NM_000020.3(ACVRL1):c.1377+4A>T	ACVRL1	Single nucleotide variant (intron variant)	Telangiectasia, hereditary hemorrhagic, type 2	GUncertain significance FDA Recognized database
Select item 848699	NM_000020.3(ACVRL1):c.982C>T (p.His328Tyr)	ACVRL1 (H328Y)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely pathogenic FDA Recognized database
Select item 811065	NM_000020.3(ACVRL1):c.917C>T (p.Ala306Val)	ACVRL1 (A306V)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GUncertain significance FDA Recognized database
Select item 802861	NM_000020.3(ACVRL1):c.652C>T (p.Arg218Trp)	ACVRL1 (R218W)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely benign FDA Recognized database
Select item 657805	NM_000020.3(ACVRL1):c.706G>A (p.Glu236Lys)	ACVRL1 (E236K)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic FDA Recognized database
Select item 618625	NM_001114753.3(ENG):c.1701del (p.Val568fs)	ENG, LOC102723566 (V386fs +1 more)	Deletion (non-coding transcript variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic FDA Recognized database
Select item 565574	NM_001114753.3(ENG):c.1160T>C (p.Leu387Pro)	ENG, LOC102723566 (L387P +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1	GUncertain significance FDA Recognized database
Select item 458346	NM_001114753.3(ENG):c.2T>G (p.Met1Arg)	ENG (M1R)	Single nucleotide variant (missense variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic FDA Recognized database
Select item 435060	NM_001114753.3(ENG):c.662T>C (p.Leu221Pro)	ENG (L221P +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1	GLikely pathogenic FDA Recognized database
Select item 426118	NM_001114753.3(ENG):c.1961C>G (p.Thr654Ser)	ENG (T654S +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1	GUncertain significance FDA Recognized database
Select item 426040	NM_000020.3(ACVRL1):c.1468C>T (p.Gln490Ter)	ACVRL1 (Q490*)	Single nucleotide variant (nonsense)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic FDA Recognized database
Select item 414302	NM_001114753.3(ENG):c.-9G>A	ENG	Single nucleotide variant (5 prime UTR variant)	Telangiectasia, hereditary hemorrhagic, type 1	GUncertain significance FDA Recognized database
Select item 411300	NM_000020.3(ACVRL1):c.1217G>A (p.Trp406Ter)	ACVRL1 (W406*)	Single nucleotide variant (nonsense)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic FDA Recognized database
Select item 407115	NM_001114753.3(ENG):c.991G>A (p.Gly331Ser)	ENG (G331S +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic FDA Recognized database
Select item 373609	NM_000020.3(ACVRL1):c.1348A>G (p.Thr450Ala)	ACVRL1 (T450A)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely benign FDA Recognized database
Select item 365088	NM_001114753.3(ENG):c.1316A>C (p.Lys439Thr)	ENG, LOC102723566 (K439T +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1	GLikely benign FDA Recognized database
Select item 282707	NM_001114753.3(ENG):c.1711C>T (p.Arg571Cys)	ENG, LOC102723566 (R571C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 1	GUncertain significance FDA Recognized database
Select item 237027	NM_001114753.3(ENG):c.447G>C (p.Trp149Cys)	ENG (W149C)	Single nucleotide variant (missense variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic FDA Recognized database
Select item 237024	NM_001114753.3(ENG):c.1762G>A (p.Val588Ile)	ENG (V588I +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1	GLikely benign FDA Recognized database
Select item 237022	NM_001114753.3(ENG):c.1633G>A (p.Gly545Ser)	ENG, LOC102723566 (G545S +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1	GLikely benign FDA Recognized database
Select item 213212	NM_001114753.3(ENG):c.1586G>A (p.Arg529His)	ENG, LOC102723566 (R529H +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic FDA Recognized database
Select item 213200	NM_001114753.3(ENG):c.572G>A (p.Gly191Asp)	ENG (G191D +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1	GBenign FDA Recognized database
Select item 212802	NM_000020.3(ACVRL1):c.998G>T (p.Ser333Ile)	ACVRL1 (S333I)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic FDA Recognized database
Select item 161232	NM_001114753.3(ENG):c.392C>T (p.Pro131Leu)	ENG (P131L)	Single nucleotide variant (missense variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 1	GBenign FDA Recognized database
Select item 161231	NM_001114753.3(ENG):c.1510G>A (p.Val504Met)	ENG, LOC102723566 (V504M +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1	GLikely benign FDA Recognized database
Select item 161229	NM_001114753.3(ENG):c.1844C>T (p.Ser615Leu)	ENG (S615L +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1	GLikely benign FDA Recognized database
Select item 161202	NM_000020.3(ACVRL1):c.88C>T (p.Pro30Ser)	ACVRL1 (P30S)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely benign FDA Recognized database
Select item 161201	NM_000020.3(ACVRL1):c.1445C>T (p.Ala482Val)	ACVRL1 (A482V)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely benign FDA Recognized database
Select item 8243	NM_000020.3(ACVRL1):c.1232G>A (p.Arg411Gln)	ACVRL1 (R411Q)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GPathogenic FDA Recognized database

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Items: 36