ClinVar for MedGen (Select 326686) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 545581	NM_000193.4(SHH):c.629G>A (p.Gly210Asp)	SHH (G210D)	Single nucleotide variant (missense variant +1 more)	Solitary median maxillary central incisor syndrome	GUncertain significance
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 30381	NM_005413.4(SIX3):c.109G>T (p.Gly37Cys)	SIX3 (G37C)	Single nucleotide variant (missense variant)	SIX3-related condition +3 more	GBenign/Likely benign
Select item 8895	NM_000193.4(SHH):c.383G>A (p.Trp128Ter)	SHH (W128* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 8894	NM_000193.4(SHH):c.995T>C (p.Val332Ala)	SHH (V332A)	Single nucleotide variant (missense variant +1 more)	Solitary median maxillary central incisor syndrome	GPathogenic
Select item 8890	NM_000193.4(SHH):c.331A>T (p.Ile111Phe)	SHH (I111F +1 more)	Single nucleotide variant (missense variant +1 more)	Solitary median maxillary central incisor syndrome	GPathogenic
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