ClinVar for MedGen (Select 1725962) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1184999	NM_000095.3(COMP):c.1A>G (p.Met1Val)	COMP (M1V)	Single nucleotide variant (missense variant +1 more)	Carpal tunnel syndrome 2	GUncertain significance
Select item 995411	NM_000095.3(COMP):c.197T>A (p.Val66Glu)	COMP (V66E)	Single nucleotide variant (missense variant)	Carpal tunnel syndrome 2	GPathogenic
Select item 988351	NM_000095.3(COMP):c.1153G>A (p.Asp385Asn)	COMP (D385N)	Single nucleotide variant (missense variant)	Carpal tunnel syndrome 2 +3 more	GPathogenic/Likely pathogenic
Select item 255119	NM_000095.3(COMP):c.1755G>A (p.Thr585=)	COMP	Single nucleotide variant (synonymous variant)	Multiple epiphyseal dysplasia type 1 +4 more	GBenign
Select item 197627	NM_000095.3(COMP):c.511G>A (p.Ala171Thr)	COMP (A171T)	Single nucleotide variant (missense variant)	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome +5 more	GBenign
Select item 40994	NM_000095.3(COMP):c.1754C>G (p.Thr585Arg)	COMP (T585R)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 1 +2 more	GPathogenic
Select item 9198	NM_000095.3(COMP):c.2152C>T (p.Arg718Trp)	COMP (R718W)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 1 +1 more	GPathogenic/Likely pathogenic

ClinVar