"Baylor Genetics"[submitter] AND "TRIP12"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2582514	NM_001348323.3(TRIP12):c.6126_6128delinsTT (p.Tyr2043fs)	TRIP12 (Y1698fs +11 more)	Indel (frameshift variant)	Clark-Baraitser syndrome	GUncertain significance
Select item 1028708	NM_001348323.3(TRIP12):c.5459dup (p.Ala1821fs)	TRIP12 (A1476fs +11 more)	Duplication (frameshift variant)	Clark-Baraitser syndrome	GPathogenic
Select item 1031395	NM_001348323.3(TRIP12):c.5429C>T (p.Ser1810Leu)	TRIP12 (S1763L +11 more)	Single nucleotide variant (missense variant)	Clark-Baraitser syndrome	GUncertain significance
Select item 1028707	NM_001348323.3(TRIP12):c.5308A>G (p.Met1770Val)	TRIP12 (M1728V +11 more)	Single nucleotide variant (missense variant)	Clark-Baraitser syndrome	GUncertain significance
Select item 1031394	NM_001348323.3(TRIP12):c.4253G>A (p.Arg1418Lys)	TRIP12 (R1073K +11 more)	Single nucleotide variant (missense variant)	Clark-Baraitser syndrome	GUncertain significance
Select item 1031393	NM_001348323.3(TRIP12):c.3835A>G (p.Ile1279Val)	TRIP12 (I1204V +8 more)	Single nucleotide variant (missense variant)	Clark-Baraitser syndrome	GUncertain significance
Select item 2442117	NM_001348323.3(TRIP12):c.2625_2629del (p.Asn876fs)	TRIP12 (N531fs +8 more)	Deletion (frameshift variant)	Clark-Baraitser syndrome	GLikely pathogenic
Select item 1028710	NM_001348323.3(TRIP12):c.989C>T (p.Ser330Leu)	TRIP12 (S288L +2 more)	Single nucleotide variant (missense variant +1 more)	Clark-Baraitser syndrome	GUncertain significance
Select item 1028709	NM_001348323.3(TRIP12):c.703A>G (p.Ile235Val)	TRIP12 (I193V +1 more)	Single nucleotide variant (missense variant +1 more)	Clark-Baraitser syndrome	GUncertain significance