ClinVar for MedGen (Select 1674850) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 638069	NM_013432.5(TONSL):c.1673G>A (p.Arg558Gln)	TONSL, TONSL-AS1 (R558Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 549709	NM_212482.4(FN1):c.506G>A (p.Cys169Tyr)	FN1 (C169Y)	Single nucleotide variant (missense variant)	Spondylometaphyseal dysplasia	GLikely pathogenic
Select item 549708	NM_212482.4(FN1):c.368G>A (p.Cys123Tyr)	FN1 (C123Y)	Single nucleotide variant (missense variant)	Spondylometaphyseal dysplasia	GLikely pathogenic
Select item 549707	NM_212482.4(FN1):c.638G>A (p.Cys213Tyr)	FN1 (C213Y)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 547841	NM_001844.5(COL2A1):c.2618G>T (p.Gly873Val)	COL2A1 (G873V +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis type II +15 more	GUncertain significance
Select item 450072	NM_212482.4(FN1):c.773G>A (p.Cys258Tyr)	FN1 (C258Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 424648	NM_212482.4(FN1):c.2422ACA[1] (p.Thr809del)	FN1 (T809del)	Microsatellite (inframe_deletion)	Spondylometaphyseal dysplasia - Sutcliffe type	GUncertain significance
Select item 424647	NM_212482.4(FN1):c.778T>G (p.Cys260Gly)	FN1 (C260G)	Single nucleotide variant (missense variant)	Spondylometaphyseal dysplasia - Sutcliffe type	GLikely pathogenic
Select item 424646	NM_212482.4(FN1):c.718T>G (p.Tyr240Asp)	FN1 (Y240D)	Single nucleotide variant (missense variant)	Spondylometaphyseal dysplasia - Sutcliffe type	GLikely pathogenic
Select item 424645	NM_212482.4(FN1):c.675C>G (p.Cys225Trp)	FN1 (C225W)	Single nucleotide variant (missense variant)	Spondylometaphyseal dysplasia - Sutcliffe type +1 more	GPathogenic/Likely pathogenic
Select item 424644	NM_212482.4(FN1):c.367T>C (p.Cys123Arg)	FN1 (C123R)	Single nucleotide variant (missense variant)	Spondylometaphyseal dysplasia - Sutcliffe type +1 more	GPathogenic/Likely pathogenic
Select item 424643	NM_212482.4(FN1):c.260G>T (p.Cys87Phe)	FN1 (C87F)	Single nucleotide variant (missense variant)	Spondylometaphyseal dysplasia - Sutcliffe type	GLikely pathogenic
Select item 421465	NM_212482.4(FN1):c.693C>G (p.Cys231Trp)	FN1 (C231W)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 368980	NC_000012.12:g.109833413C>T	MIR4497, TRPV4	Single nucleotide variant (non-coding transcript variant)	not provided +6 more	GLikely benign
Select item 308931	NM_001844.5(COL2A1):c.803C>T (p.Pro268Leu)	COL2A1 (P268L +1 more)	Single nucleotide variant (missense variant)	Stickler syndrome type 1 +15 more	GConflicting classifications of pathogenicity
Select item 307122	NM_021625.5(TRPV4):c.2484C>T (p.Arg828=)	TRPV4	Single nucleotide variant (synonymous variant)	Spondylometaphyseal dysplasia +8 more	GLikely benign
Select item 195148	NM_001844.5(COL2A1):c.258C>A (p.Cys86Ter)	COL2A1 (C86*)	Single nucleotide variant (nonsense +1 more)	not provided +14 more	GPathogenic
Select item 17395	NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter)	COL2A1 (R584* +1 more)	Single nucleotide variant (nonsense)	not provided +15 more	GPathogenic
Select item 17366	NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys)	COL2A1 (R920C +1 more)	Single nucleotide variant (missense variant)	Spondyloperipheral dysplasia +14 more	GPathogenic/Likely pathogenic