"Fulgent Genetics, Fulgent Genetics"[submitter] AND "ACVRL1"[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 309437	NM_000020.3(ACVRL1):c.-129G>A	ACVRL1	Single nucleotide variant (5 prime UTR variant)	Telangiectasia, hereditary hemorrhagic, type 2	GUncertain significance
Select item 533353	NM_000020.3(ACVRL1):c.206G>T (p.Cys69Phe)	ACVRL1 (C69F)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2 +1 more	GPathogenic/Likely pathogenic
Select item 654296	NM_000020.3(ACVRL1):c.270C>A (p.Cys90Ter)	ACVRL1 (C90*)	Single nucleotide variant (nonsense)	Telangiectasia, hereditary hemorrhagic, type 2 +1 more	GPathogenic/Likely pathogenic
Select item 1002891	NM_000020.3(ACVRL1):c.369G>A (p.Leu123=)	ACVRL1	Single nucleotide variant (synonymous variant)	Telangiectasia, hereditary hemorrhagic, type 2	GUncertain significance
Select item 385185	NM_000020.3(ACVRL1):c.376G>A (p.Val126Met)	ACVRL1 (V126M)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2 +1 more	GUncertain significance
Select item 212804	NM_000020.3(ACVRL1):c.430C>T (p.Arg144Ter)	ACVRL1 (R144*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 881841	NM_000020.3(ACVRL1):c.431G>A (p.Arg144Gln)	ACVRL1 (R144Q)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GUncertain significance
Select item 523779	NM_000020.3(ACVRL1):c.601C>T (p.Gln201Ter)	ACVRL1 (Q201*)	Single nucleotide variant (nonsense)	Telangiectasia, hereditary hemorrhagic, type 2 +2 more	GPathogenic
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 1429657	NM_000020.3(ACVRL1):c.667G>A (p.Gly223Ser)	ACVRL1 (G223S)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GUncertain significance
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 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 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 618512	NM_000020.3(ACVRL1):c.1103C>T (p.Pro368Leu)	ACVRL1 (P368L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 618511	NM_000020.3(ACVRL1):c.1118A>G (p.Lys373Arg)	ACVRL1 (K373R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 8249	NM_000020.3(ACVRL1):c.1120C>T (p.Arg374Trp)	ACVRL1 (R374W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GPathogenic/Likely pathogenic
Select item 572217	NM_000020.3(ACVRL1):c.1177_1179delinsCAA (p.Tyr393Gln)	ACVRL1 (Y393Q)	Indel (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GUncertain significance
Select item 426026	NM_000020.3(ACVRL1):c.1195T>C (p.Trp399Arg)	ACVRL1 (W399R)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GLikely pathogenic
Select item 236551	NM_000020.3(ACVRL1):c.1228C>T (p.Arg410Cys)	ACVRL1 (R410C)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GUncertain significance
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
Select item 950535	NM_000020.3(ACVRL1):c.1258G>A (p.Asp420Asn)	ACVRL1 (D420N)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 2	GUncertain significance
Select item 1035031	NM_000020.3(ACVRL1):c.1377G>A (p.Pro459=)	ACVRL1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 372722	NM_000020.3(ACVRL1):c.1435C>T (p.Arg479Ter)	ACVRL1 (R479*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +3 more	GPathogenic
Select item 309447	NM_000020.3(ACVRL1):c.*131C>T	ACVRL1	Single nucleotide variant (3 prime UTR variant)	Telangiectasia, hereditary hemorrhagic, type 2	GUncertain significance
Select item 881459	NM_000020.3(ACVRL1):c.*132G>A	ACVRL1	Single nucleotide variant (3 prime UTR variant)	Telangiectasia, hereditary hemorrhagic, type 2	GUncertain significance
Select item 309449	NM_000020.3(ACVRL1):c.*205G>A	ACVRL1	Single nucleotide variant (3 prime UTR variant)	Telangiectasia, hereditary hemorrhagic, type 2	GUncertain significance
Select item 309464	NM_000020.3(ACVRL1):c.*1041G>T	ACVRL1	Single nucleotide variant (3 prime UTR variant)	Telangiectasia, hereditary hemorrhagic, type 2	GBenign
Select item 883847	NM_000020.3(ACVRL1):c.*1107G>T	ACVRL1	Single nucleotide variant (3 prime UTR variant)	Telangiectasia, hereditary hemorrhagic, type 2	GUncertain significance
Select item 883144	NM_000020.3(ACVRL1):c.*2268G>C	ACVRL1	Single nucleotide variant (3 prime UTR variant)	Telangiectasia, hereditary hemorrhagic, type 2	GUncertain significance

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Items: 29