ClinVar for MedGen (Select 1638842) - ClinVar

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

Format

Sort by

Choose Destination

Links from MedGen

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 495116	NM_001001557.4(GDF6):c.1330T>A (p.Tyr444Asn)	GDF6 (Y444N)	Single nucleotide variant (missense variant)	Multiple synostoses syndrome 4	GPathogenic
Select item 495115	NM_001001557.4(GDF6):c.1287C>A (p.Ser429Arg)	GDF6 (S429R)	Single nucleotide variant (missense variant)	Multiple synostoses syndrome 4	GUncertain significance
Select item 256847	NM_001001557.4(GDF6):c.255G>T (p.Pro85=)	GDF6	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 4 +5 more	GBenign/Likely benign

Format

Sort by

Choose Destination