"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 255438	NM_000168.6(GLI3):c.3774C>G (p.Leu1258=)	GLI3	Single nucleotide variant (synonymous variant)	Pallister-Hall syndrome +4 more	GBenign
Select item 360230	NM_000168.6(GLI3):c.3208A>T (p.Thr1070Ser)	GLI3 (T1070S)	Single nucleotide variant (missense variant)	Greig cephalopolysyndactyly syndrome +5 more	GBenign/Likely benign
Select item 137486	NM_000168.6(GLI3):c.3084C>T (p.Ser1028=)	GLI3	Single nucleotide variant (synonymous variant)	Greig cephalopolysyndactyly syndrome +4 more	GBenign
Select item 137485	NM_000168.6(GLI3):c.3083G>T (p.Ser1028Ile)	GLI3 (S1028I)	Single nucleotide variant (missense variant)	Greig cephalopolysyndactyly syndrome +4 more	GBenign
Select item 255433	NM_000168.6(GLI3):c.2993C>T (p.Pro998Leu)	GLI3 (P998L)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +6 more	GBenign
Select item 194463	NM_000168.6(GLI3):c.2835G>C (p.Leu945=)	GLI3	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 255420	NM_000168.6(GLI3):c.1356+11G>C	GLI3	Single nucleotide variant (intron variant)	Pallister-Hall syndrome +6 more	GBenign
Select item 255419	NM_000168.6(GLI3):c.1243-40A>C	GLI3	Single nucleotide variant (intron variant)	not specified	GBenign/Likely benign
Select item 255446	NM_000168.6(GLI3):c.547A>G (p.Thr183Ala)	GLI3 (T183A)	Single nucleotide variant (missense variant)	Greig cephalopolysyndactyly syndrome +4 more	GBenign