struthanthus trujillo - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 16331	NM_000142.5(FGFR3):c.1948A>G (p.Lys650Glu)	FGFR3 (K650E +3 more)	Single nucleotide variant (missense variant +1 more)	Thanatophoric dysplasia type 1 +3 more	GPathogenic
Select item 7046	NM_004562.3(PRKN):c.635G>A (p.Cys212Tyr)	PRKN (C212Y +2 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 500634	NM_000492.4(CFTR):c.3275A>G (p.Tyr1092Cys)	CFTR, LOC111674472 (Y1092C)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 2567	NM_006493.4(CLN5):c.188G>A (p.Arg63His)	CLN5 (R63H)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 43013	NM_000257.4(MYH7):c.438G>T (p.Lys146Asn)	MYH7 (K146N)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GPathogenic/Likely pathogenic
Select item 16449	NM_000138.5(FBN1):c.6354C>T (p.Ile2118=)	FBN1	Single nucleotide variant (synonymous variant)	not provided +3 more	GPathogenic
Select item 555891	NM_001352514.2(HLCS):c.2268_2270del (p.Thr757del)	HLCS (T610del +1 more)	Deletion (inframe_deletion +1 more)	not specified +1 more	GUncertain significance
Select item 208000	NM_001127898.4(CLCN5):c.2362C>T (p.Arg788Ter)	CLCN5 (R718* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 372321	NM_000390.4(CHM):c.1019C>A (p.Ser340Ter)	CHM (S340* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic

ClinVar