ClinVar for MedGen (Select 369356) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1381826	NM_000193.4(SHH):c.1210_1233del (p.Gly404_Gly411del)	SHH	Deletion (inframe_deletion +1 more)	Holoprosencephaly 3	GUncertain significance
Select item 1362086	NM_000193.4(SHH):c.1178C>G (p.Ala393Gly)	SHH (A393G)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 3 +4 more	GUncertain significance
Select item 666320	NM_000193.4(SHH):c.1102G>T (p.Glu368Ter)	SHH (E368*)	Single nucleotide variant (nonsense +1 more)	Microphthalmia, isolated, with coloboma 5	GLikely pathogenic
Select item 378580	NM_000193.4(SHH):c.300+17G>A	SHH	Single nucleotide variant (intron variant)	not specified +5 more	GBenign/Likely benign
Select item 255495	NM_000193.4(SHH):c.301-49G>A	SHH	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 8887	NM_000193.4(SHH):c.869G>A (p.Gly290Asp)	SHH (G290D)	Single nucleotide variant (missense variant +1 more)	Schizencephaly +6 more	GBenign/Likely benign
Select item 8886	NM_000193.4(SHH):c.1147G>A (p.Ala383Thr)	SHH (A383T)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance

ClinVar