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

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 439758	NM_001374353.1(GLI2):c.457+70G>A	GLI2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 259735	NM_001374353.1(GLI2):c.720C>T (p.Asp240=)	GLI2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 9 +3 more	GBenign/Likely benign
Select item 259738	NM_001374353.1(GLI2):c.963C>G (p.Pro321=)	GLI2	Single nucleotide variant (synonymous variant)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +3 more	GBenign/Likely benign
Select item 198529	NM_001374353.1(GLI2):c.1121G>A (p.Arg374His)	GLI2 (R374H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 993942	NM_001374353.1(GLI2):c.1157C>T (p.Pro386Leu)	GLI2 (P261L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 259718	NM_001374353.1(GLI2):c.1633-17C>T	GLI2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 811168	NM_001374353.1(GLI2):c.1639T>G (p.Tyr547Asp)	GLI2 (Y422D +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 259719	NM_001374353.1(GLI2):c.1710G>A (p.Thr570=)	GLI2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 259720	NM_001374353.1(GLI2):c.1818C>A (p.Gly606=)	GLI2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 259721	NM_001374353.1(GLI2):c.1893C>T (p.Thr631=)	GLI2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 9 +3 more	GBenign
Select item 194065	NM_001374353.1(GLI2):c.1935G>A (p.Ser645=)	GLI2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 9 +3 more	GBenign/Likely benign
Select item 439759	NM_001374353.1(GLI2):c.2284C>T (p.Pro762Ser)	GLI2 (P779S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 993758	NM_001374353.1(GLI2):c.2353del (p.Leu785fs)	GLI2 (L660fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 194223	NM_001374353.1(GLI2):c.3539G>A (p.Gly1180Asp)	GLI2 (G1197D +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 439760	NM_001374353.1(GLI2):c.3672G>A (p.Met1224Ile)	GLI2 (M1241I +2 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9 +2 more	GConflicting classifications of pathogenicity
Select item 95272	NM_001374353.1(GLI2):c.3865G>A (p.Asp1289Asn)	GLI2 (D1306N +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 95273	NM_001374353.1(GLI2):c.3888A>G (p.Pro1296=)	GLI2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 95274	NM_001374353.1(GLI2):c.3892C>T (p.Pro1298Ser)	GLI2 (P1315S +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 706119	NM_001374353.1(GLI2):c.4030G>T (p.Val1344Leu)	GLI2 (V1361L +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GLikely benign
Select item 475120	NM_001374353.1(GLI2):c.4281_4282delinsAT (p.Met1427_Leu1428delinsIlePhe)	GLI2	Indel (missense variant)	Holoprosencephaly 9 +2 more	GBenign
Select item 194230	NM_001374353.1(GLI2):c.4281G>A (p.Met1427Ile)	GLI2 (M1444I +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 194229	NM_001374353.1(GLI2):c.4282C>T (p.Leu1428Phe)	GLI2 (L1445F +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 439761	NM_001374353.1(GLI2):c.4402C>G (p.Pro1468Ala)	GLI2 (P1485A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 23