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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 994034	NM_000193.4(SHH):c.1085C>T (p.Ser362Leu)	SHH (S362L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 196228	NM_000193.4(SHH):c.897G>C (p.Leu299=)	SHH	Single nucleotide variant (synonymous variant +1 more)	Holoprosencephaly 3 +3 more	GBenign
Select item 65911	NM_000193.4(SHH):c.876G>A (p.Gly292=)	SHH	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 787852	NM_000193.4(SHH):c.756C>T (p.Phe252=)	SHH	Single nucleotide variant (synonymous variant +1 more)	SHH-related condition +2 more	GLikely benign
Select item 65884	NM_000193.4(SHH):c.630C>T (p.Gly210=)	SHH	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 993990	NM_000193.4(SHH):c.301-131C>T	SHH	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 378580	NM_000193.4(SHH):c.300+17G>A	SHH	Single nucleotide variant (intron variant)	not provided +5 more	GBenign/Likely benign
Select item 403436	NM_000193.4(SHH):c.-125G>A	SHH	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GBenign

ClinVar