C3887892[trait identifier] AND "Blueprint Genetics"[submitter] - ClinVar - NCBI

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

Search results

Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 180298	NM_000093.5(COL5A1):c.514G>T (p.Val172Phe)	COL5A1 (V172F)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 581973	NM_017617.5(NOTCH1):c.7541_7542del (p.Pro2514fs)	NOTCH1 (P2514fs)	Deletion (frameshift variant)	not provided +3 more	GUncertain significance OOncogenic
Select item 241166	NM_017617.5(NOTCH1):c.7279G>A (p.Gly2427Ser)	NOTCH1 (G2427S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 222759	NM_017617.5(NOTCH1):c.6422C>T (p.Ser2141Leu)	NOTCH1 (S2141L)	Single nucleotide variant (missense variant)	Aortic valve disease 1 +2 more	GConflicting classifications of pathogenicity
Select item 222758	NM_017617.5(NOTCH1):c.6205G>A (p.Ala2069Thr)	NOTCH1 (A2069T)	Single nucleotide variant (missense variant)	Marfan syndrome +5 more	GConflicting classifications of pathogenicity
Select item 636804	NM_017617.5(NOTCH1):c.5819G>A (p.Arg1940His)	NOTCH1 (R1940H)	Single nucleotide variant (missense variant)	Aortic valve disease 1 +2 more	GUncertain significance
Select item 222757	NM_017617.5(NOTCH1):c.5014C>T (p.Arg1672Cys)	NOTCH1 (R1672C)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5 +2 more	GConflicting classifications of pathogenicity
Select item 180459	NM_017617.5(NOTCH1):c.4971C>G (p.Ser1657Arg)	NOTCH1 (S1657R)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5 +2 more	GConflicting classifications of pathogenicity
Select item 263913	NM_017617.5(NOTCH1):c.4078G>A (p.Gly1360Ser)	NOTCH1 (G1360S)	Single nucleotide variant (missense variant)	Aortic valve disease 1 +3 more	GConflicting classifications of pathogenicity
Select item 636452	NM_017617.5(NOTCH1):c.3970G>T (p.Val1324Leu)	NOTCH1 (V1324L)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 155828	NM_017617.5(NOTCH1):c.3901+3G>A	NOTCH1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GConflicting classifications of pathogenicity
Select item 134921	NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp)	NOTCH1 (R912W)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GConflicting classifications of pathogenicity
Select item 180458	NM_017617.5(NOTCH1):c.2521G>A (p.Gly841Ser)	NOTCH1 (G841S)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5 +3 more	GConflicting classifications of pathogenicity
Select item 636578	NM_017617.5(NOTCH1):c.2446A>G (p.Asn816Asp)	NOTCH1 (N816D)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 263986	NM_017617.5(NOTCH1):c.2068G>A (p.Gly690Arg)	NOTCH1 (G690R)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GUncertain significance
Select item 155826	NM_017617.5(NOTCH1):c.2021T>C (p.Met674Thr)	NOTCH1 (M674T)	Single nucleotide variant (missense variant)	Aortic valve disease 1 +1 more	GUncertain significance
Select item 637001	NM_017617.5(NOTCH1):c.1220C>T (p.Pro407Leu)	NOTCH1 (P407L)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity; other
Select item 180368	NM_080473.5(GATA5):c.1159C>T (p.Arg387Cys)	GATA5 (R387C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance