ClinVar for MedGen (Select 325051) - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3049420	NM_002775.5(HTRA1):c.1156C>T (p.Arg386Ter)	HTRA1 (R386*)	Single nucleotide variant (nonsense)	CARASIL syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1501480	NM_002775.5(HTRA1):c.820C>T (p.Arg274Trp)	HTRA1 (R274W)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1332825	NM_002775.5(HTRA1):c.905G>A (p.Arg302Gln)	HTRA1 (R302Q)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 +2 more	GPathogenic/Likely pathogenic
Select item 1331097	NM_002775.5(HTRA1):c.1274C>T (p.Ala425Val)	HTRA1 (A425V)	Single nucleotide variant (missense variant)	CARASIL syndrome	GPathogenic
Select item 1259856	NM_002775.5(HTRA1):c.1275-36C>T	HTRA1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 978704	NM_002775.5(HTRA1):c.235C>T (p.Gln79Ter)	HTRA1 (Q79*)	Single nucleotide variant (nonsense)	CARASIL syndrome	GLikely pathogenic
Select item 877269	NM_002775.5(HTRA1):c.1333G>A (p.Ala445Thr)	HTRA1 (A445T)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 870484	NM_002775.5(HTRA1):c.660C>G (p.His220Gln)	HTRA1 (H220Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 560164	NM_002775.5(HTRA1):c.614C>G (p.Ser205Cys)	HTRA1 (S205C)	Single nucleotide variant (missense variant)	CARASIL syndrome	GPathogenic
Select item 444239	NM_002775.5(HTRA1):c.589C>T (p.Arg197Ter)	HTRA1 (R197*)	Single nucleotide variant (nonsense)	CARASIL syndrome +1 more	GConflicting classifications of pathogenicity
Select item 424706	NM_002775.4(HTRA1):c.[126delG];[961G>A]			CARASIL syndrome	GPathogenic
Select item 299055	NM_002775.5(HTRA1):c.1274+14G>A	HTRA1	Single nucleotide variant (intron variant)	CARASIL syndrome +3 more	GBenign
Select item 299054	NM_002775.5(HTRA1):c.1274+8G>A	HTRA1	Single nucleotide variant (intron variant)	CARASIL syndrome +3 more	GBenign
Select item 299044	NM_002775.5(HTRA1):c.59C>T (p.Ala20Val)	ARMS2, HTRA1 (A20V)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 180747	NM_002775.5(HTRA1):c.126del (p.Glu42fs)	HTRA1 (E42fs)	Deletion (frameshift variant)	CARASIL syndrome	GPathogenic
Select item 180746	NM_002775.5(HTRA1):c.961G>A (p.Ala321Thr)	HTRA1 (A321T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 156101	NM_002775.5(HTRA1):c.1091T>C (p.Leu364Pro)	HTRA1 (L364P)	Single nucleotide variant (missense variant)	CARASIL syndrome	Gnot provided
Select item 156100	NM_002775.5(HTRA1):c.854C>T (p.Pro285Leu)	HTRA1 (P285L)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 156099	NM_002775.5(HTRA1):c.821G>A (p.Arg274Gln)	HTRA1 (R274Q)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 30244	NM_002775.5(HTRA1):c.883G>A (p.Gly295Arg)	HTRA1 (G295R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 21326	NM_002775.5(HTRA1):c.108G>T (p.Gly36=)	HTRA1, ARMS2	Single nucleotide variant (synonymous variant)	Macular degeneration +2 more	GBenign/Likely benign
Select item 21325	NM_002775.5(HTRA1):c.108G>C (p.Gly36=)	ARMS2, HTRA1	Single nucleotide variant (synonymous variant)	Macular degeneration +2 more	GBenign/Likely benign
Select item 21324	NM_002775.5(HTRA1):c.102C>T (p.Ala34=)	ARMS2, HTRA1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 7490	NM_002775.5(HTRA1):c.754G>A (p.Ala252Thr)	HTRA1 (A252T)	Single nucleotide variant (missense variant)	CARASIL syndrome	GPathogenic
Select item 7489	NM_002775.5(HTRA1):c.889G>A (p.Val297Met)	HTRA1 (V297M)	Single nucleotide variant (missense variant)	CARASIL syndrome	GPathogenic
Select item 7488	NM_002775.5(HTRA1):c.904C>T (p.Arg302Ter)	HTRA1 (R302*)	Single nucleotide variant (nonsense)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 +1 more	GPathogenic/Likely pathogenic
Select item 7487	NM_002775.5(HTRA1):c.1108C>T (p.Arg370Ter)	HTRA1 (R370*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic

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Items: 27