Related gene-specific medical variations for Gene (Select 9325) - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243891	NC_000015.9:g.(?_64701792)_(64706430_?)dup	TRIP4	Duplication	not provided	GLikely pathogenic
Select item 2988919	NM_016213.5(TRIP4):c.1631C>T (p.Pro544Leu)	LOC126862156, TRIP4 (P314L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2885186	NM_016213.5(TRIP4):c.1576-10T>C	LOC126862156, TRIP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2690276	NM_016213.5(TRIP4):c.1182C>G (p.His394Gln)	TRIP4 (H164Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2690275	NM_016213.5(TRIP4):c.644T>C (p.Ile215Thr)	TRIP4 (I215T)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2683317	NM_016213.5(TRIP4):c.1636G>A (p.Glu546Lys)	LOC126862156, TRIP4 (E316K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2553161	NM_016213.5(TRIP4):c.1664G>A (p.Gly555Glu)	LOC126862156, TRIP4 (G325E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2437333	NM_016213.5(TRIP4):c.712G>A (p.Gly238Arg)	TRIP4 (G238R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2437332	NM_016213.5(TRIP4):c.137G>A (p.Arg46Gln)	TRIP4 (R46Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2395890	NM_016213.5(TRIP4):c.1645G>C (p.Val549Leu)	LOC126862156, TRIP4 (V319L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1929268	NM_016213.5(TRIP4):c.1678+19dup	LOC126862156, TRIP4	Duplication (intron variant)	not provided	GBenign
Select item 1919970	NM_016213.5(TRIP4):c.1576-17A>C	LOC126862156, TRIP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1912510	NM_016213.5(TRIP4):c.1678+19del	LOC126862156, TRIP4	Deletion (intron variant)	not provided	GBenign
Select item 1327919	NM_016213.5(TRIP4):c.1678+1_1678+2insC	LOC126862156, TRIP4	Insertion (splice donor variant)	Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome	GUncertain significance
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 1281423	NM_016213.5(TRIP4):c.1678+26G>A	LOC126862156, TRIP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243474	NM_016213.5(TRIP4):c.1576-102G>C	LOC126862156, TRIP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233727	NM_016213.5(TRIP4):c.1576-240dup	LOC126862156, TRIP4	Duplication (intron variant)	not provided	GBenign
Select item 1229556	NM_016213.5(TRIP4):c.1678+325C>T	LOC126862156, TRIP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224023	NM_016213.5(TRIP4):c.1576-241_1576-240dup	LOC126862156, TRIP4	Duplication (intron variant)	not provided	GBenign
Select item 1218740	NM_016213.5(TRIP4):c.1678+304G>A	LOC126862156, TRIP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214230	NM_016213.5(TRIP4):c.1576-242_1576-240dup	LOC126862156, TRIP4	Duplication (intron variant)	not provided	GLikely benign
Select item 1204161	NM_016213.5(TRIP4):c.1576-180G>C	LOC126862156, TRIP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 559572	NM_016213.5(TRIP4):c.350C>T (p.Ala117Val)	TRIP4 (A117V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance

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Links from Gene

Items: 25