ClinVar for MedGen (Select 96585) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062248	NM_000451.4(SHOX):c.419del (p.His140fs)	LOC107652445, SHOX (H140fs)	Deletion (frameshift variant)	Leri-Weill dyschondrosteosis +1 more	GLikely pathogenic
Select item 2498325	NM_000451.4(SHOX):c.547G>C (p.Val183Leu)	SHOX (V183L)	Single nucleotide variant (missense variant)	Langer mesomelic dysplasia syndrome	GUncertain significance
Select item 1034223	NM_000451.4(SHOX):c.38A>G (p.Asp13Gly)	SHOX (D13G)	Single nucleotide variant (missense variant)	Langer mesomelic dysplasia syndrome	GUncertain significance
Select item 1034222	NM_000451.4(SHOX):c.389A>C (p.Asn130Thr)	LOC107652445, SHOX (N130T)	Single nucleotide variant (missense variant)	Langer mesomelic dysplasia syndrome	GUncertain significance
Select item 448375	NM_000451.4(SHOX):c.634-14G>T	SHOX	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 36776	NM_000451.4(SHOX):c.63C>T (p.Gly21=)	SHOX	Single nucleotide variant (synonymous variant)	SHOX-related short stature +5 more	GBenign/Likely benign
Select item 29994	NM_000451.4(SHOX):c.508G>C (p.Ala170Pro)	SHOX (A170P)	Single nucleotide variant (missense variant)	Langer mesomelic dysplasia syndrome +1 more	GPathogenic
Select item 9884	NC_000023.11:g.(651585_658784)_(659412_1759412)del	SHOX	Deletion	Leri-Weill dyschondrosteosis +1 more	GPathogenic
Select item 9881	NM_000451.4(SHOX):c.352_353dup (p.Arg119fs)	LOC107652445, SHOX (R119fs)	Microsatellite (frameshift variant)	Langer mesomelic dysplasia syndrome	GPathogenic
Select item 9880	NM_000451.4(SHOX):c.728dup (p.Pro244fs)	SHOX (P244fs)	Duplication (frameshift variant +1 more)	Leri-Weill dyschondrosteosis	GPathogenic
Select item 9879	NM_000451.4(SHOX):c.502C>T (p.Arg168Trp)	SHOX (R168W)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 9874	NG_009385.2:g.(?_5001)_(40068_?)del	SHOX	Deletion	Langer mesomelic dysplasia syndrome +1 more	GPathogenic