"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "LOC1299 - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 458685	NC_000007.14:g.(?_19116693)_(19117341_?)del	LOC129998021, TWIST1	Deletion	TWIST1-related craniosynostosis +1 more	GPathogenic
Select item 2923233	NM_000474.4(TWIST1):c.600G>C (p.Ala200=)	LOC129998021, TWIST1	Single nucleotide variant (synonymous variant +1 more)	Saethre-Chotzen syndrome +1 more	GLikely benign
Select item 1075291	NM_000474.4(TWIST1):c.587G>A (p.Trp196Ter)	LOC129998021, TWIST1 (W196*)	Single nucleotide variant (nonsense +1 more)	Saethre-Chotzen syndrome +1 more	GPathogenic
Select item 2940697	NM_000474.4(TWIST1):c.565G>A (p.Val189Ile)	LOC129998021, TWIST1 (V189I)	Single nucleotide variant (missense variant +1 more)	Saethre-Chotzen syndrome +1 more	GUncertain significance
Select item 543074	NM_000474.4(TWIST1):c.560T>C (p.Phe187Ser)	LOC129998021, TWIST1 (F187S)	Single nucleotide variant (missense variant +1 more)	TWIST1-related craniosynostosis +1 more	GUncertain significance
Select item 1127259	NM_000474.4(TWIST1):c.546G>T (p.Arg182=)	LOC129998021, TWIST1	Single nucleotide variant (synonymous variant +1 more)	TWIST1-related craniosynostosis +1 more	GLikely benign
Select item 1495173	NM_000474.4(TWIST1):c.530_537dup (p.His180fs)	LOC129998021, TWIST1 (H180fs)	Duplication (frameshift variant +1 more)	TWIST1-related craniosynostosis +1 more	GUncertain significance
Select item 1514348	NM_000474.4(TWIST1):c.510dup (p.Lys171fs)	LOC129998021, TWIST1 (K171fs)	Duplication (frameshift variant +1 more)	TWIST1-related craniosynostosis +1 more	GUncertain significance
Select item 2940339	NM_000474.4(TWIST1):c.508T>A (p.Ser170Thr)	LOC129998021, TWIST1 (S170T)	Single nucleotide variant (missense variant +1 more)	Saethre-Chotzen syndrome +1 more	GUncertain significance
Select item 2942795	NM_000474.4(TWIST1):c.488T>C (p.Leu163Pro)	LOC129998021, TWIST1 (L163P)	Single nucleotide variant (missense variant +1 more)	Saethre-Chotzen syndrome +1 more	GUncertain significance
Select item 568616	NM_000474.4(TWIST1):c.487C>T (p.Leu163Phe)	LOC129998021, TWIST1 (L163F)	Single nucleotide variant (missense variant +1 more)	Saethre-Chotzen syndrome +1 more	GUncertain significance
Select item 1040207	NM_000474.4(TWIST1):c.484del (p.Val162fs)	LOC129998021, TWIST1 (V162fs)	Deletion (frameshift variant +1 more)	TWIST1-related craniosynostosis +1 more	GUncertain significance
Select item 647985	NM_000474.4(TWIST1):c.476T>C (p.Leu159Pro)	LOC129998021, TWIST1 (L159P)	Single nucleotide variant (missense variant +1 more)	TWIST1-related craniosynostosis +1 more	GUncertain significance
Select item 572211	NM_000474.4(TWIST1):c.475C>T (p.Leu159Phe)	LOC129998021, TWIST1 (L159F)	Single nucleotide variant (missense variant +1 more)	TWIST1-related craniosynostosis +1 more	GPathogenic
Select item 1474659	NM_000474.4(TWIST1):c.474C>G (p.Phe158Leu)	LOC129998021, TWIST1 (F158L)	Single nucleotide variant (missense variant +1 more)	Saethre-Chotzen syndrome +1 more	GLikely pathogenic
Select item 1480108	NM_000474.4(TWIST1):c.472T>C (p.Phe158Leu)	LOC129998021, TWIST1 (F158L)	Single nucleotide variant (missense variant +1 more)	TWIST1-related craniosynostosis +1 more	GLikely pathogenic
Select item 1455499	NM_000474.4(TWIST1):c.467T>G (p.Ile156Ser)	LOC129998021, TWIST1 (I156S)	Single nucleotide variant (missense variant +1 more)	TWIST1-related craniosynostosis +1 more	GPathogenic
Select item 7982	NM_000474.4(TWIST1):c.466A>G (p.Ile156Val)	LOC129998021, TWIST1 (I156V)	Single nucleotide variant (missense variant +1 more)	Saethre-Chotzen syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2070030	NM_000474.4(TWIST1):c.465C>G (p.Tyr155Ter)	LOC129998021, TWIST1 (Y155*)	Single nucleotide variant (nonsense +1 more)	TWIST1-related craniosynostosis +1 more	GPathogenic
Select item 2136496	NM_000474.4(TWIST1):c.455C>T (p.Ala152Val)	LOC129998021, TWIST1 (A152V)	Single nucleotide variant (missense variant +1 more)	Saethre-Chotzen syndrome +1 more	GLikely pathogenic
Select item 476635	NM_000474.4(TWIST1):c.455C>A (p.Ala152Glu)	LOC129998021, TWIST1 (A152E)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 835124	NM_000474.4(TWIST1):c.446T>G (p.Leu149Arg)	LOC129998021, TWIST1 (L149R)	Single nucleotide variant (missense variant +1 more)	Saethre-Chotzen syndrome +1 more	GPathogenic
Select item 734439	NM_000474.4(TWIST1):c.444C>T (p.Thr148=)	LOC129998021, TWIST1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 942829	NM_000474.4(TWIST1):c.443C>T (p.Thr148Ile)	LOC129998021, TWIST1 (T148I)	Single nucleotide variant (missense variant +1 more)	TWIST1-related craniosynostosis +1 more	GLikely pathogenic
Select item 1010080	NM_000474.4(TWIST1):c.437T>C (p.Ile146Thr)	LOC129998021, TWIST1 (I146T)	Single nucleotide variant (missense variant +1 more)	TWIST1-related craniosynostosis +1 more	GUncertain significance
Select item 948152	NM_000474.4(TWIST1):c.437T>G (p.Ile146Ser)	LOC129998021, TWIST1 (I146S)	Single nucleotide variant (missense variant +1 more)	Saethre-Chotzen syndrome +1 more	GUncertain significance
Select item 970861	NM_000474.4(TWIST1):c.433A>G (p.Lys145Glu)	LOC129998021, TWIST1 (K145E)	Single nucleotide variant (missense variant +1 more)	TWIST1-related craniosynostosis +1 more	GPathogenic
Select item 2136497	NM_000474.4(TWIST1):c.421G>A (p.Asp141Asn)	LOC129998021, TWIST1 (D141N)	Single nucleotide variant (missense variant +1 more)	Saethre-Chotzen syndrome +1 more	GUncertain significance
Select item 694504	NM_000474.4(TWIST1):c.400_420dup (p.Ser140_Asp141insIleIleProThrLeuProSer)	LOC129998021, TWIST1	Duplication (inframe_insertion +1 more)	Saethre-Chotzen syndrome +1 more	GPathogenic/Likely pathogenic
Select item 704871	NM_000474.4(TWIST1):c.420G>C (p.Ser140=)	LOC129998021, TWIST1	Single nucleotide variant (synonymous variant +1 more)	Saethre-Chotzen syndrome +1 more	GLikely benign

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Items: 30