C5393309[trait identifier] AND "Laboratory of Molecular Genetics, CHU - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 235093	NM_001377229.1(DISP1):c.2898G>A (p.Trp966Ter)	DISP1 (W966* +1 more)	Single nucleotide variant (nonsense)	Microform holoprosencephaly	GLikely pathogenic
Select item 235074	NM_001374353.1(GLI2):c.349G>A (p.Ala117Thr)	GLI2 (A117T)	Single nucleotide variant (missense variant +1 more)	Microform holoprosencephaly	GUncertain significance
Select item 235075	NM_001374353.1(GLI2):c.596dup (p.Ala200fs)	GLI2 (A75fs +1 more)	Duplication (frameshift variant)	Microform holoprosencephaly	GLikely pathogenic
Select item 235076	NM_001374353.1(GLI2):c.790C>T (p.Arg264Ter)	GLI2 (R264* +1 more)	Single nucleotide variant (nonsense)	Microform holoprosencephaly	GLikely pathogenic
Select item 235077	NM_001374353.1(GLI2):c.2013del (p.Ser673fs)	GLI2 (S690fs +2 more)	Deletion (frameshift variant)	Microform holoprosencephaly	GLikely pathogenic
Select item 235078	NM_001374353.1(GLI2):c.2186G>A (p.Trp729Ter)	GLI2 (W746* +2 more)	Single nucleotide variant (nonsense)	Microform holoprosencephaly	GLikely pathogenic
Select item 235079	NM_001374353.1(GLI2):c.4710G>C (p.Ter1570Tyr)	GLI2	Single nucleotide variant (stop lost)	Microform holoprosencephaly	GLikely pathogenic
Select item 235086	NM_023110.3(FGFR1):c.1928G>A (p.Gly643Asp)	FGFR1 (G643D +7 more)	Single nucleotide variant (missense variant)	Microform holoprosencephaly	GLikely pathogenic
Select item 135281	NM_016169.4(SUFU):c.1022C>T (p.Pro341Leu)	SUFU (P341L)	Single nucleotide variant (missense variant)	Gorlin syndrome +2 more	GConflicting classifications of pathogenicity