C0235833[trait identifier] AND "Daryl Scott Lab, Baylor College of Med - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 992572	NM_001004356.3(FGFRL1):c.886A>G (p.Ile296Val)	FGFRL1 (I296V)	Single nucleotide variant (missense variant)	Congenital diaphragmatic hernia +1 more	GUncertain significance
Select item 992573	NM_001004356.3(FGFRL1):c.1328G>C (p.Gly443Ala)	FGFRL1 (G443A)	Single nucleotide variant (missense variant)	Congenital diaphragmatic hernia +1 more	GUncertain significance
Select item 369975	NM_025074.7(FRAS1):c.2389G>A (p.Glu797Lys)	FRAS1 (E797K)	Single nucleotide variant (missense variant)	FRAS1-related disorder	GUncertain significance
Select item 369978	NM_025074.7(FRAS1):c.6323A>T (p.Asp2108Val)	FRAS1 (D2108V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 198348	NM_025074.7(FRAS1):c.9806G>A (p.Arg3269Gln)	FRAS1 (R3269Q)	Single nucleotide variant (missense variant)	Fraser syndrome 1 +2 more	GBenign/Likely benign
Select item 369976	NM_000168.6(GLI3):c.2726C>G (p.Ala909Gly)	GLI3 (A909G)	Single nucleotide variant (missense variant)	Congenital diaphragmatic hernia	Grisk factor
Select item 619229	NM_001127392.3(MYRF):c.2084G>A (p.Arg695His)	MYRF (R695H +1 more)	Single nucleotide variant (missense variant)	Cardiac-urogenital syndrome	GUncertain significance
Select item 369979	NM_019055.6(ROBO4):c.569G>C (p.Gly190Ala)	ROBO4 (G190A +1 more)	Single nucleotide variant (missense variant)	Congenital diaphragmatic hernia	Grisk factor
Select item 311971	NM_207361.6(FREM2):c.4031G>A (p.Arg1344His)	FREM2 (R1344H)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 369977	NM_207361.6(FREM2):c.4994C>T (p.Ser1665Phe)	FREM2 (S1665F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 369974	NM_207361.6(FREM2):c.5940_5942del (p.Leu1981del)	FREM2 (L1981del)	Deletion (inframe_deletion)	Congenital diaphragmatic hernia	GLikely pathogenic
Select item 427835	NM_207361.5(FREM2):c.[4031G>A];[4558C>T]			Congenital diaphragmatic hernia	GLikely pathogenic