ClinVar for MedGen (Select 896011) - 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 1801722	NM_016213.5(TRIP4):c.265A>T (p.Lys89Ter)	TRIP4 (K89*)	Single nucleotide variant (5 prime UTR variant +2 more)	Spinal muscular atrophy with congenital bone fractures 1	GPathogenic
Select item 1694758	NM_016213.5(TRIP4):c.890G>A (p.Trp297Ter)	TRIP4 (W297* +1 more)	Single nucleotide variant (nonsense +1 more)	Spinal muscular atrophy with congenital bone fractures 1 +1 more	GPathogenic
Select item 1327918	NM_016213.5(TRIP4):c.512G>A (p.Cys171Tyr)	TRIP4 (C171Y)	Single nucleotide variant (5 prime UTR variant +2 more)	Spinal muscular atrophy with congenital bone fractures 1	GUncertain significance
Select item 1323715	NM_016213.5(TRIP4):c.336_339del (p.Gln113fs)	TRIP4 (Q113fs)	Microsatellite (5 prime UTR variant +2 more)	Spinal muscular atrophy with congenital bone fractures 1 +1 more	GPathogenic/Likely pathogenic
Select item 1300157	NM_016213.5(TRIP4):c.1255C>T (p.Gln419Ter)	TRIP4 (Q189* +1 more)	Single nucleotide variant (nonsense +1 more)	Spinal muscular atrophy with congenital bone fractures 1	GLikely pathogenic
Select item 1300156	NM_016213.4:c.1359_1575del	TRIP4	Deletion	Spinal muscular atrophy with congenital bone fractures 1	GLikely pathogenic
Select item 1287307	NM_016213.5(TRIP4):c.1596G>A (p.Glu532=)	LOC126862156, TRIP4	Single nucleotide variant (synonymous variant +1 more)	Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome +2 more	GBenign
Select item 1282717	NM_016213.5(TRIP4):c.1044-25G>A	TRIP4	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 710055	NM_016213.5(TRIP4):c.981C>T (p.Thr327=)	TRIP4	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 432682	NM_016213.5(TRIP4):c.925C>T (p.Arg309Ter)	TRIP4 (R309* +1 more)	Single nucleotide variant (nonsense +1 more)	Spinal muscular atrophy with congenital bone fractures 1 +1 more	GPathogenic/Likely pathogenic
Select item 224632	NM_016213.5(TRIP4):c.832C>T (p.Arg278Ter)	TRIP4 (R278* +1 more)	Single nucleotide variant (nonsense +1 more)	not specified	GPathogenic
Select item 224631	NM_016213.5(TRIP4):c.760C>T (p.Arg254Ter)	TRIP4 (R254* +1 more)	Single nucleotide variant (nonsense +1 more)	Spinal muscular atrophy with congenital bone fractures 1	GPathogenic