"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "TRIP12" - ClinVar - NCBI

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

Search results

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 775829	NM_001348323.3(TRIP12):c.5695-4G>T	TRIP12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1070789	NM_001348323.3(TRIP12):c.3968+1G>T	TRIP12	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2171910	NM_001348323.3(TRIP12):c.2707C>T (p.Pro903Ser)	TRIP12 (P834S +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 721247	NM_001348323.3(TRIP12):c.2121T>C (p.Thr707=)	TRIP12	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1069025	NM_001348323.3(TRIP12):c.1857del (p.Glu619fs)	TRIP12 (E274fs +4 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 767864	NM_001348323.3(TRIP12):c.1731+7C>T	TRIP12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2712722	NM_001348323.3(TRIP12):c.1214A>G (p.Gln405Arg)	TRIP12 (Q376R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 957271	NM_001348323.3(TRIP12):c.1181G>A (p.Arg394Gln)	TRIP12 (R352Q +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1305513	NM_001348323.3(TRIP12):c.1135C>T (p.Arg379Trp)	TRIP12 (R337W +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 756081	NM_001348323.3(TRIP12):c.1133+8G>T	TRIP12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1379554	NM_001348323.3(TRIP12):c.785C>T (p.Ala262Val)	TRIP12 (A220V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2719238	NM_001348323.3(TRIP12):c.638G>A (p.Arg213Lys)	TRIP12 (R213K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2884369	NM_001348323.3(TRIP12):c.625G>C (p.Gly209Arg)	TRIP12 (G167R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance