7291[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 253

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	LOC129998085, LOC129998086 +904 more	Copy number gain	See cases	GPathogenic
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	RAC1, RADIL +823 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	HYCC1, ICA1 +879 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic
Select item 154993	GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	ABCB5, ACTB +769 more	Copy number gain	See cases	GPathogenic
Select item 147466	GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3	ABCB5, AGMO +560 more	Copy number gain	See cases	GPathogenic
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 154641	GRCh38/hg38 7p21.3-15.2(chr7:10610069-25760560)x1	LOC129998072, LOC129998073 +331 more	Copy number loss	See cases	GPathogenic
Select item 58520	GRCh38/hg38 7p21.2-21.1(chr7:15133711-19642829)x1	AGMO, AGR2 +67 more	Copy number loss	See cases	GPathogenic
Select item 148859	GRCh38/hg38 7p21.2-15.3(chr7:15533812-24851432)x1	ABCB5, AGMO +248 more	Copy number loss	See cases	GPathogenic
Select item 148160	GRCh38/hg38 7p21.2-21.1(chr7:16121516-20607899)x1	AGR2, AGR3 +84 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 58535	GRCh38/hg38 7p21.1-15.3(chr7:18505390-21417733)x1	ABCB5, FERD3L +63 more	Copy number loss	See cases	GPathogenic
Select item 149762	GRCh38/hg38 7p21.1(chr7:18660228-20666885)x3	LOC129998025, LOC129998026 +38 more	Copy number gain	See cases	GUncertain significance
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 458685	NC_000007.14:g.(?_19116693)_(19117341_?)del	LOC129998021, TWIST1	Deletion	TWIST1-related craniosynostosis +1 more	GPathogenic
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 2923233	NM_000474.4(TWIST1):c.600G>C (p.Ala200=)	LOC129998021, TWIST1	Single nucleotide variant (synonymous variant +1 more)	TWIST1-related craniosynostosis +1 more	GLikely benign
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 1075291	NM_000474.4(TWIST1):c.587G>A (p.Trp196Ter)	LOC129998021, TWIST1 (W196*)	Single nucleotide variant (nonsense +1 more)	TWIST1-related craniosynostosis +1 more	GPathogenic
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 2940697	NM_000474.4(TWIST1):c.565G>A (p.Val189Ile)	LOC129998021, TWIST1 (V189I)	Single nucleotide variant (missense variant +1 more)	TWIST1-related craniosynostosis +1 more	GUncertain significance
Select item 7986	NM_000474.4(TWIST1):c.563C>T (p.Ser188Leu)	LOC129998021, TWIST1 (S188L)	Single nucleotide variant (missense variant +1 more)	TWIST1-related craniosynostosis	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 7985	NM_000474.4(TWIST1):c.556G>A (p.Ala186Thr)	LOC129998021, TWIST1 (A186T)	Single nucleotide variant (missense variant +1 more)	TWIST1-related craniosynostosis	GPathogenic
Select item 1127259	NM_000474.4(TWIST1):c.546G>T (p.Arg182=)	LOC129998021, TWIST1	Single nucleotide variant (synonymous variant +1 more)	Saethre-Chotzen syndrome +1 more	GLikely benign
Select item 2579018	NM_000474.4(TWIST1):c.545G>T (p.Arg182Leu)	LOC129998021, TWIST1 (R182L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 7980	NM_000474.4(TWIST1):c.541G>T (p.Glu181Ter)	LOC129998021, TWIST1 (E181*)	Single nucleotide variant (nonsense +1 more)	Saethre-Chotzen syndrome	GPathogenic
Select item 1495173	NM_000474.4(TWIST1):c.530_537dup (p.His180fs)	LOC129998021, TWIST1 (H180fs)	Duplication (frameshift variant +1 more)	Saethre-Chotzen syndrome +1 more	GUncertain significance
Select item 2438446	NM_000474.4(TWIST1):c.531T>A (p.Tyr177Ter)	LOC129998021, TWIST1 (Y177*)	Single nucleotide variant (nonsense +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 1679672	NM_000474.4(TWIST1):c.518del (p.Ala173fs)	LOC129998021, TWIST1 (A173fs)	Deletion (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)	Saethre-Chotzen syndrome +1 more	GUncertain significance
Select item 1031586	NM_000474.4(TWIST1):c.508dup (p.Ser170fs)	LOC129998021, TWIST1 (S170fs)	Duplication (frameshift variant +1 more)	Robinow-Sorauf syndrome	GPathogenic
Select item 2940339	NM_000474.4(TWIST1):c.508T>A (p.Ser170Thr)	LOC129998021, TWIST1 (S170T)	Single nucleotide variant (missense variant +1 more)	TWIST1-related craniosynostosis +1 more	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 2942795	NM_000474.4(TWIST1):c.488T>C (p.Leu163Pro)	LOC129998021, TWIST1 (L163P)	Single nucleotide variant (missense variant +1 more)	TWIST1-related craniosynostosis +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)	TWIST1-related craniosynostosis +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 3235827	NM_000474.4(TWIST1):c.481C>T (p.Gln161Ter)	LOC129998021, TWIST1 (Q161*)	Single nucleotide variant (nonsense +1 more)	Sweeney-Cox syndrome	GPathogenic
Select item 1048585	NM_000474.4(TWIST1):c.476T>A (p.Leu159His)	LOC129998021, TWIST1 (L159H)	Single nucleotide variant (missense variant +1 more)	Saethre-Chotzen syndrome	GLikely pathogenic
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 981189	NM_000474.4(TWIST1):c.475C>G (p.Leu159Val)	LOC129998021, TWIST1 (L159V)	Single nucleotide variant (missense variant +1 more)	Saethre-Chotzen syndrome	GLikely pathogenic
Select item 572211	NM_000474.4(TWIST1):c.475C>T (p.Leu159Phe)	LOC129998021, TWIST1 (L159F)	Single nucleotide variant (missense variant +1 more)	Saethre-Chotzen syndrome +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)	TWIST1-related craniosynostosis +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)	Saethre-Chotzen syndrome +1 more	GLikely pathogenic
Select item 1455499	NM_000474.4(TWIST1):c.467T>G (p.Ile156Ser)	LOC129998021, TWIST1 (I156S)	Single nucleotide variant (non-coding transcript 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)	TWIST1-related craniosynostosis +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 7981	NM_000474.4(TWIST1):c.460dup (p.Arg154fs)	LOC129998021, TWIST1 (R154fs)	Duplication (frameshift variant +1 more)	Robinow-Sorauf syndrome	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 2630238	NM_000474.4(TWIST1):c.454G>C (p.Ala152Pro)	LOC129998021, TWIST1 (A152P)	Single nucleotide variant (missense variant +1 more)	TWIST1-related disorder	GLikely pathogenic
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 1164065	NM_000474.4(TWIST1):c.437_448del (p.Ile146_Leu149del)	LOC129998021, TWIST1	Deletion (inframe_deletion +1 more)	Saethre-Chotzen syndrome	GPathogenic
Select item 835124	NM_000474.4(TWIST1):c.446T>G (p.Leu149Arg)	LOC129998021, TWIST1 (L149R)	Single nucleotide variant (missense variant +1 more)	TWIST1-related craniosynostosis +1 more	GPathogenic
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 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 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 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)	TWIST1-related craniosynostosis +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
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 567420	NM_000474.4(TWIST1):c.398_418dup (p.Ser140Ter)	TWIST1 (S140*)	Duplication (nonsense +1 more)	Saethre-Chotzen syndrome +1 more	GPathogenic
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 543075	NM_000474.4(TWIST1):c.396_416dup (p.Lys133_Pro139dup)	TWIST1	Duplication (inframe_insertion +1 more)	not provided +2 more	GPathogenic
Select item 1457074	NM_000474.4(TWIST1):c.395_415dup (p.Arg132_Leu138dup)	TWIST1	Duplication (inframe_insertion +1 more)	TWIST1-related craniosynostosis +1 more	GPathogenic
Select item 935674	NM_000474.4(TWIST1):c.416C>T (p.Pro139Leu)	TWIST1 (P139L)	Single nucleotide variant (missense variant +1 more)	Saethre-Chotzen syndrome +1 more	GLikely pathogenic
Select item 1488653	NM_000474.4(TWIST1):c.415C>T (p.Pro139Ser)	TWIST1 (P139S)	Single nucleotide variant (missense variant +1 more)	Saethre-Chotzen syndrome +1 more	GLikely pathogenic
Select item 476633	NM_000474.4(TWIST1):c.395_415del (p.Arg132_Leu138del)	TWIST1	Deletion (inframe_deletion +1 more)	TWIST1-related craniosynostosis +1 more	GUncertain significance
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 543076	NM_000474.4(TWIST1):c.408dup (p.Thr137fs)	TWIST1 (T137fs)	Duplication (frameshift variant +1 more)	TWIST1-related craniosynostosis +1 more	GPathogenic
Select item 2572990	NM_000474.4(TWIST1):c.408del (p.Thr137fs)	TWIST1 (T137fs)	Deletion (frameshift variant +1 more)	Saethre-Chotzen syndrome	GPathogenic
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 2925392	NM_000474.4(TWIST1):c.406C>G (p.Pro136Ala)	TWIST1 (P136A)	Single nucleotide variant (missense variant +1 more)	TWIST1-related craniosynostosis +1 more	GUncertain significance
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 655051	NM_000474.4(TWIST1):c.406C>A (p.Pro136Thr)	TWIST1 (P136T)	Single nucleotide variant (missense variant +1 more)	TWIST1-related craniosynostosis +1 more	GUncertain significance
Select item 1351855	NM_000474.4(TWIST1):c.400ATC[1] (p.Ile135del)	TWIST1 (I135del)	Microsatellite (inframe_deletion +1 more)	TWIST1-related craniosynostosis +1 more	GPathogenic
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 521675	NM_000474.4(TWIST1):c.398_400del (p.Lys133del)	TWIST1 (K133del)	Deletion (inframe_deletion +1 more)	Inborn genetic diseases	GUncertain significance
Select item 637010	NM_000474.4(TWIST1):c.398_399delinsTT (p.Lys133Ile)	TWIST1 (K133I)	Indel (missense variant +1 more)	Coronal craniosynostosis	GUncertain significance
Select item 827827	NM_000474.4(TWIST1):c.397A>T (p.Lys133Ter)	TWIST1 (K133*)	Single nucleotide variant (nonsense +1 more)	Saethre-Chotzen syndrome	GPathogenic
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 7978	NM_000474.4(TWIST1):c.392T>C (p.Leu131Pro)	TWIST1 (L131P)	Single nucleotide variant (missense variant +1 more)	Saethre-Chotzen syndrome	GPathogenic
Select item 1720308	NM_000474.4(TWIST1):c.388G>C (p.Ala130Pro)	TWIST1 (A130P)	Single nucleotide variant (missense variant +1 more)	TWIST1-related craniosynostosis +1 more	GUncertain significance
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 637009	NM_000474.4(TWIST1):c.379G>A (p.Ala127Thr)	TWIST1 (A127T)	Single nucleotide variant (missense variant +1 more)	Coronal craniosynostosis	GUncertain significance

<< First< Prev

Page of 3