"GeneDx"[submitter] AND "TWIST1"[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58518	GRCh38/hg38 7p21.3-21.1(chr7:9975653-19356878)x1	AGMO, AGR2 +130 more	Copy number loss	See cases	GPathogenic
Select item 59679	GRCh38/hg38 7p21.2-15.2(chr7:16234212-26167278)x3	ABCB5, AGR2 +287 more	Copy number gain	See cases	GPathogenic
Select item 58540	GRCh38/hg38 7p21.1(chr7:18931530-19221396)x1	FERD3L, HDAC9 +3 more	Copy number loss	See cases	GPathogenic
Select item 59571	GRCh38/hg38 7p21.1(chr7:19054701-19321593)x3	FERD3L, LOC126859955 +2 more	Copy number gain	See cases	GUncertain significance
Select item 1272414	NM_000474.4(TWIST1):c.*42+145G>T	TWIST1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202165	NM_000474.4(TWIST1):c.607T>C (p.Ter203Gln)	LOC129998021, TWIST1	Single nucleotide variant (stop lost +1 more)	not provided	GUncertain significance
Select item 2571935	NM_000474.4(TWIST1):c.599C>A (p.Ala200Glu)	LOC129998021, TWIST1 (A200E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3373378	NM_000474.4(TWIST1):c.586T>A (p.Trp196Arg)	LOC129998021, TWIST1 (W196R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2575637	NM_000474.4(TWIST1):c.530A>G (p.Tyr177Cys)	LOC129998021, TWIST1 (Y177C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1327668	NM_000474.4(TWIST1):c.530A>C (p.Tyr177Ser)	LOC129998021, TWIST1 (Y177S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2430914	NM_000474.4(TWIST1):c.528C>G (p.Ser176Arg)	LOC129998021, TWIST1 (S176R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 3253440	NM_000474.4(TWIST1):c.523T>C (p.Cys175Arg)	LOC129998021, TWIST1 (C175R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1303945	NM_000474.4(TWIST1):c.503T>G (p.Leu168Arg)	LOC129998021, TWIST1 (L168R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1304352	NM_000474.4(TWIST1):c.451C>G (p.Leu151Val)	LOC129998021, TWIST1 (L151V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1693014	NM_000474.4(TWIST1):c.445C>T (p.Leu149Phe)	LOC129998021, TWIST1 (L149F)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 3340704	NM_000474.4(TWIST1):c.431G>A (p.Ser144Asn)	LOC129998021, TWIST1 (S144N)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2504943	NM_000474.4(TWIST1):c.399_423dup (p.Lys142fs)	LOC129998021, TWIST1 (K142fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 1420250	NM_000474.4(TWIST1):c.419C>T (p.Ser140Leu)	TWIST1 (S140L)	Single nucleotide variant (missense variant +1 more)	Saethre-Chotzen syndrome +2 more	GLikely pathogenic
Select item 489149	NM_000474.4(TWIST1):c.419C>A (p.Ser140Ter)	TWIST1 (S140*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 458686	NM_000474.4(TWIST1):c.397_417dup (p.Lys133_Pro139dup)	TWIST1	Duplication (inframe_insertion +1 more)	not provided +2 more	GPathogenic
Select item 1314150	NM_000474.4(TWIST1):c.410C>G (p.Thr137Arg)	TWIST1 (T137R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2429580	NM_000474.4(TWIST1):c.407C>T (p.Pro136Leu)	TWIST1 (P136L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 931885	NM_000474.4(TWIST1):c.385_405dup (p.Ala129_Ile135dup)	TWIST1	Duplication (inframe_insertion +1 more)	Saethre-Chotzen syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1000485	NM_000474.4(TWIST1):c.405C>G (p.Ile135Met)	TWIST1 (I135M)	Single nucleotide variant (missense variant +1 more)	Saethre-Chotzen syndrome +2 more	GConflicting classifications of pathogenicity
Select item 476634	NM_000474.4(TWIST1):c.395G>C (p.Arg132Pro)	TWIST1 (R132P)	Single nucleotide variant (missense variant +1 more)	TWIST1-related craniosynostosis +2 more	GConflicting classifications of pathogenicity
Select item 2135988	NM_000474.4(TWIST1):c.379_380delinsAA (p.Ala127Lys)	TWIST1 (A127K)	Indel (missense variant +1 more)	not provided	GLikely pathogenic
Select item 7977	NM_000474.4(TWIST1):c.376G>T (p.Glu126Ter)	TWIST1 (E126*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic
Select item 652940	NM_000474.4(TWIST1):c.358C>T (p.Arg120Cys)	TWIST1 (R120C)	Single nucleotide variant (missense variant +1 more)	Saethre-Chotzen syndrome +2 more	GConflicting classifications of pathogenicity
Select item 3252981	NM_000474.4(TWIST1):c.343G>A (p.Val115Met)	TWIST1 (V115M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3368071	NM_000474.4(TWIST1):c.342C>G (p.Asn114Lys)	TWIST1 (N114K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3364495	NM_000474.4(TWIST1):c.332T>C (p.Val111Ala)	TWIST1 (V111A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3343959	NM_000474.4(TWIST1):c.329G>A (p.Arg110Gln)	TWIST1 (R110Q)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 426307	NM_000474.4(TWIST1):c.329G>C (p.Arg110Pro)	TWIST1 (R110P)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 802300	NM_000474.4(TWIST1):c.309C>G (p.Tyr103Ter)	TWIST1 (Y103*)	Single nucleotide variant (nonsense +1 more)	Neurodevelopmental delay +3 more	GPathogenic/Likely pathogenic
Select item 3372056	NM_000474.4(TWIST1):c.305C>T (p.Ser102Phe)	TWIST1 (S102F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 575739	NM_000474.4(TWIST1):c.301C>T (p.Gln101Ter)	TWIST1 (Q101*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2576918	NM_000474.4(TWIST1):c.280_297del (p.Ser94_Ser99del)	TWIST1	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 432962	NM_000474.4(TWIST1):c.276_293del (p.Ser94_Ser99del)	TWIST1	Deletion (inframe_deletion +1 more)	not provided +2 more	GUncertain significance
Select item 256223	NM_000474.4(TWIST1):c.259_276del (p.Ala87_Gly92del)	TWIST1	Deletion (inframe_deletion +1 more)	TWIST1-related craniosynostosis +3 more	GBenign/Likely benign
Select item 702088	NM_000474.4(TWIST1):c.247G>A (p.Gly83Ser)	TWIST1 (G83S)	Single nucleotide variant (missense variant +1 more)	TWIST1-related craniosynostosis +2 more	GLikely benign
Select item 476630	NM_000474.4(TWIST1):c.180C>T (p.Val60=)	TWIST1	Single nucleotide variant (synonymous variant +1 more)	TWIST1-related craniosynostosis +2 more	GLikely benign
Select item 543077	NM_000474.4(TWIST1):c.132_142del (p.Ser45fs)	TWIST1 (S45fs)	Deletion (frameshift variant +1 more)	TWIST1-related craniosynostosis +2 more	GPathogenic/Likely pathogenic
Select item 1803300	NM_000474.4(TWIST1):c.109C>T (p.Arg37Cys)	TWIST1 (R37C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 817160	NM_000474.4(TWIST1):c.96del (p.Lys33fs)	TWIST1 (K33fs)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 235255	NM_000474.4(TWIST1):c.94G>A (p.Gly32Ser)	TWIST1 (G32S)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1197166	NM_000474.4(TWIST1):c.-125T>G	TWIST1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1193193	NM_000474.4(TWIST1):c.-137C>G	TWIST1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1208947	NM_000474.4(TWIST1):c.-141C>T	TWIST1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1201951	NM_000474.4(TWIST1):c.-195T>C	TWIST1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign

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Items: 50