ClinVar for MedGen (Select 8360) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1338810	NM_000193.4(SHH):c.86G>C (p.Gly29Ala)	SHH (G29A)	Single nucleotide variant (missense variant)	Anemia +9 more	GUncertain significance
Select item 978047	NM_018671.5(UNC45A):c.1339_1340delinsCT (p.Ala447Leu)	UNC45A (A302L +2 more)	Indel (missense variant)	Increased susceptibility to fractures +3 more	GUncertain significance
Select item 978046	NM_018671.5(UNC45A):c.710T>C (p.Leu237Pro)	UNC45A (L222P +2 more)	Single nucleotide variant (missense variant)	UNC45A-associated Cholestasis +3 more	GUncertain significance
Select item 804474	NM_178859.4(SLC51B):c.84del (p.Arg29fs)	RASL12, SLC51B (R29fs)	Deletion (frameshift variant)	Cholestasis +1 more	GLikely pathogenic
Select item 545432	NM_024494.3(WNT2B):c.205C>T (p.Arg69Ter)	WNT2B (R50* +1 more)	Single nucleotide variant (nonsense +1 more)	Diarrhea 9 +5 more	GPathogenic
Select item 438483	NM_022787.3(NMNAT1):c.[53A>G];[769G>A]			Cone-rod dystrophy	GPathogenic
Select item 287037	NM_000199.5(SGSH):c.1272_1282del (p.Tyr424_Arg428delinsTer)	SGSH	Deletion (nonsense +2 more)	not provided +1 more	GPathogenic
Select item 194918	NM_000275.3(OCA2):c.2020C>G (p.Leu674Val)	OCA2 (L674V +1 more)	Single nucleotide variant (missense variant)	Oculocutaneous albinism +9 more	GConflicting classifications of pathogenicity
Select item 37134	NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys)	NMNAT1 (E257K)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 30459	NM_000199.5(SGSH):c.892T>C (p.Ser298Pro)	SGSH (S298P)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic