ClinVar for MedGen (Select 867363) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 812546	NM_003384.3(VRK1):c.637T>C (p.Tyr213His)	VRK1 (Y213H)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 1A +2 more	GConflicting classifications of pathogenicity
Select item 633780	NM_012465.4(TLL2):c.1609C>T (p.His537Tyr)	TLL2 (H537Y)	Single nucleotide variant (missense variant)	Proximal muscle weakness +6 more	GUncertain significance
Select item 633779	NM_012465.4(TLL2):c.112G>C (p.Glu38Gln)	TLL2 (E38Q)	Single nucleotide variant (missense variant)	Proximal muscle weakness +6 more	GUncertain significance
Select item 523443	NM_001605.3(AARS1):c.2054T>C (p.Val685Ala)	AARS1 (V685A)	Single nucleotide variant (missense variant)	Clubfoot +7 more	GUncertain significance
Select item 374017	NM_000530.8(MPZ):c.699T>G (p.Ser233Arg)	MPZ (S233R)	Single nucleotide variant (missense variant)	Roussy-Lévy syndrome +4 more	GLikely pathogenic
Select item 92408	NM_000070.3(CAPN3):c.1746-20C>G	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 17621	NM_000070.3(CAPN3):c.550del (p.Thr184fs)	CAPN3 (T184fs)	Deletion (frameshift variant)	CAPN3-related disorder +24 more	GPathogenic
Select item 17542	NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln)	CLCN1 (R317Q)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form +8 more	GPathogenic/Likely pathogenic

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