ClinVar for MedGen (Select 1646646) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3005248	NM_006494.4(ERF):c.810G>A (p.Met270Ile)	ERF (M270I +1 more)	Single nucleotide variant (missense variant)	TWIST1-related craniosynostosis	GUncertain significance
Select item 2955801	NM_006494.4(ERF):c.234C>T (p.Tyr78=)	ERF	Single nucleotide variant (synonymous variant)	TWIST1-related craniosynostosis	GLikely benign
Select item 2952886	NM_000474.4(TWIST1):c.359G>A (p.Arg120His)	TWIST1 (R120H)	Single nucleotide variant (missense variant +1 more)	Saethre-Chotzen syndrome +1 more	GUncertain significance
Select item 2950975	NM_000474.4(TWIST1):c.27_35dup (p.Pro12_Ala13insValSerPro)	TWIST1	Duplication (inframe_insertion +1 more)	TWIST1-related craniosynostosis +1 more	GUncertain significance
Select item 2947590	NM_000474.4(TWIST1):c.79dup (p.Gln27fs)	TWIST1 (Q27fs)	Duplication (frameshift variant +1 more)	TWIST1-related craniosynostosis +1 more	GPathogenic
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 2941873	NM_000474.4(TWIST1):c.328C>G (p.Arg110Gly)	TWIST1 (R110G)	Single nucleotide variant (missense variant +1 more)	TWIST1-related craniosynostosis +1 more	GUncertain significance
Select item 2941524	NM_000474.4(TWIST1):c.290_294del (p.Gly97fs)	TWIST1 (G97fs)	Deletion (frameshift variant +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 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 2937073	NM_000474.4(TWIST1):c.185GCG[3] (p.Gly63_Asp64insGly)	TWIST1	Microsatellite (inframe_insertion +1 more)	Saethre-Chotzen syndrome +1 more	GUncertain significance
Select item 2935429	NM_000474.4(TWIST1):c.309C>T (p.Tyr103=)	TWIST1	Single nucleotide variant (synonymous variant +1 more)	Saethre-Chotzen syndrome +1 more	GLikely benign
Select item 2925395	NM_000474.4(TWIST1):c.176del (p.Gly59fs)	TWIST1 (G59fs)	Deletion (frameshift variant +1 more)	TWIST1-related craniosynostosis +1 more	GPathogenic
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 2924844	NM_000474.4(TWIST1):c.277AGC[5] (p.Ser95_Gly96insSerSer)	TWIST1	Microsatellite (inframe_insertion +1 more)	TWIST1-related craniosynostosis +1 more	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 2922792	NM_000474.4(TWIST1):c.276_293dup (p.Ser99_Pro100insSerSerGlyGlyGlySer)	TWIST1	Duplication (inframe_insertion +1 more)	TWIST1-related craniosynostosis +1 more	GUncertain significance
Select item 2922136	NM_000474.4(TWIST1):c.375C>G (p.Asn125Lys)	TWIST1 (N125K)	Single nucleotide variant (missense variant +1 more)	TWIST1-related craniosynostosis +1 more	GUncertain significance
Select item 2921667	NM_000474.4(TWIST1):c.211del (p.Gln71fs)	TWIST1 (Q71fs)	Deletion (frameshift variant +1 more)	TWIST1-related craniosynostosis +1 more	GPathogenic
Select item 2920608	NM_000474.4(TWIST1):c.325C>T (p.Gln109Ter)	TWIST1 (Q109*)	Single nucleotide variant (nonsense +1 more)	TWIST1-related craniosynostosis +2 more	GPathogenic
Select item 2889188	NM_006494.4(ERF):c.1372C>T (p.Arg458Cys)	ERF (R458C +1 more)	Single nucleotide variant (missense variant)	TWIST1-related craniosynostosis	GUncertain significance
Select item 2886458	NM_006494.4(ERF):c.1386A>G (p.Ala462=)	ERF	Single nucleotide variant (synonymous variant)	TWIST1-related craniosynostosis	GLikely benign
Select item 2880979	NM_006494.4(ERF):c.477C>A (p.Pro159=)	ERF	Single nucleotide variant (synonymous variant)	TWIST1-related craniosynostosis	GLikely benign
Select item 2848977	NM_006494.4(ERF):c.374-16G>A	ERF	Single nucleotide variant (intron variant)	TWIST1-related craniosynostosis	GLikely benign
Select item 2831085	NM_006494.4(ERF):c.40T>G (p.Trp14Gly)	ERF (W14G)	Single nucleotide variant (5 prime UTR variant +1 more)	TWIST1-related craniosynostosis	GUncertain significance
Select item 2827652	NM_006494.4(ERF):c.1143G>T (p.Pro381=)	ERF	Single nucleotide variant (synonymous variant)	TWIST1-related craniosynostosis	GLikely benign
Select item 2811742	NM_006494.4(ERF):c.1500del (p.Ala501fs)	ERF (A501fs +1 more)	Deletion (frameshift variant)	TWIST1-related craniosynostosis	GUncertain significance
Select item 2810553	NM_006494.4(ERF):c.997_1034del (p.Leu332_His333insTer)	ERF	Deletion (nonsense)	TWIST1-related craniosynostosis	GPathogenic
Select item 2763648	NM_006494.4(ERF):c.23-9C>T	ERF	Single nucleotide variant (intron variant)	TWIST1-related craniosynostosis	GLikely benign
Select item 2746544	NM_006494.4(ERF):c.565T>G (p.Cys189Gly)	ERF (C189G +1 more)	Single nucleotide variant (missense variant)	TWIST1-related craniosynostosis	GLikely benign
Select item 2738089	NM_006494.4(ERF):c.281T>C (p.Leu94Pro)	ERF (L19P +1 more)	Single nucleotide variant (missense variant)	TWIST1-related craniosynostosis	GUncertain significance
Select item 2627611	NM_000474.4(TWIST1):c.325C>G (p.Gln109Glu)	TWIST1 (Q109E)	Single nucleotide variant (missense variant +1 more)	TWIST1-related craniosynostosis	GUncertain significance
Select item 2423350	NC_000019.9:g.(?_39904727)_(42931301_?)dup	ACTMAP, AKT2 +84 more	Duplication	MEGF8-related Carpenter syndrome +3 more	GUncertain significance
Select item 2195827	NM_000474.4(TWIST1):c.203G>T (p.Ser68Ile)	TWIST1 (S68I)	Single nucleotide variant (missense variant +1 more)	TWIST1-related craniosynostosis +1 more	GUncertain significance
Select item 2149172	NM_006494.4(ERF):c.823C>T (p.Leu275=)	ERF	Single nucleotide variant (synonymous variant)	TWIST1-related craniosynostosis	GLikely benign
Select item 2141955	NM_000474.4(TWIST1):c.142G>A (p.Gly48Ser)	TWIST1 (G48S)	Single nucleotide variant (missense variant +1 more)	TWIST1-related craniosynostosis +1 more	GUncertain significance
Select item 2136497	NM_000474.4(TWIST1):c.421G>A (p.Asp141Asn)	LOC129998021, TWIST1 (D141N)	Single nucleotide variant (non-coding transcript variant +1 more)	TWIST1-related craniosynostosis +1 more	GUncertain significance
Select item 2136496	NM_000474.4(TWIST1):c.455C>T (p.Ala152Val)	LOC129998021, TWIST1 (A152V)	Single nucleotide variant (missense variant +1 more)	TWIST1-related craniosynostosis +1 more	GLikely pathogenic
Select item 2133130	NM_006494.4(ERF):c.1021del (p.Gln341fs)	ERF (Q341fs +1 more)	Deletion (frameshift variant)	TWIST1-related craniosynostosis	GPathogenic
Select item 2122554	NM_006494.4(ERF):c.272dup (p.Arg92fs)	ERF (R17fs +1 more)	Duplication (frameshift variant)	TWIST1-related craniosynostosis	GPathogenic
Select item 2095663	NM_000474.4(TWIST1):c.94G>C (p.Gly32Arg)	TWIST1 (G32R)	Single nucleotide variant (missense variant +1 more)	TWIST1-related craniosynostosis +1 more	GUncertain significance
Select item 2093953	NM_000474.4(TWIST1):c.347G>C (p.Arg116Pro)	TWIST1 (R116P)	Single nucleotide variant (missense variant +1 more)	Saethre-Chotzen syndrome +1 more	GPathogenic
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 2062448	NM_006494.4(ERF):c.1191C>T (p.Ala397=)	ERF	Single nucleotide variant (synonymous variant)	TWIST1-related craniosynostosis	GLikely benign
Select item 2051836	NM_000474.4(TWIST1):c.241_264dup (p.Gly88_Gly89insCysGlyGlyGlyGlyGlyAlaGly)	TWIST1	Duplication (inframe_insertion +1 more)	Saethre-Chotzen syndrome +1 more	GUncertain significance
Select item 2036363	NM_000474.4(TWIST1):c.141_145del (p.Gly48fs)	TWIST1 (G48fs)	Deletion (frameshift variant +1 more)	Saethre-Chotzen syndrome +1 more	GPathogenic
Select item 2022405	NM_006494.4(ERF):c.762C>T (p.Ala254=)	ERF	Single nucleotide variant (synonymous variant)	TWIST1-related craniosynostosis	GLikely benign
Select item 2014164	NM_000474.4(TWIST1):c.264C>T (p.Gly88=)	TWIST1	Single nucleotide variant (synonymous variant +1 more)	TWIST1-related craniosynostosis +1 more	GLikely benign
Select item 1971612	NM_000474.4(TWIST1):c.259_276dup (p.Gly92_Ser93insAlaGlyGlyGlyGlyGly)	TWIST1	Duplication (inframe_insertion +1 more)	Saethre-Chotzen syndrome +1 more	GUncertain significance
Select item 1966259	NM_000474.4(TWIST1):c.51G>C (p.Leu17=)	TWIST1	Single nucleotide variant (non-coding transcript variant +1 more)	TWIST1-related craniosynostosis +1 more	GLikely benign
Select item 1957786	NM_006494.4(ERF):c.355A>C (p.Ile119Leu)	ERF (I119L +1 more)	Single nucleotide variant (missense variant)	TWIST1-related craniosynostosis	GUncertain significance
Select item 1937352	NM_006494.4(ERF):c.408G>A (p.Pro136=)	ERF	Single nucleotide variant (synonymous variant)	TWIST1-related craniosynostosis +1 more	GBenign
Select item 1720308	NM_000474.4(TWIST1):c.388G>C (p.Ala130Pro)	TWIST1 (A130P)	Single nucleotide variant (non-coding transcript variant +1 more)	TWIST1-related craniosynostosis +1 more	GUncertain significance
Select item 1714534	NM_000474.4(TWIST1):c.110G>A (p.Arg37His)	TWIST1 (R37H)	Single nucleotide variant (non-coding transcript variant +1 more)	TWIST1-related craniosynostosis +1 more	GUncertain significance
Select item 1696620	NM_006494.4(ERF):c.398C>T (p.Pro133Leu)	ERF (P133L +1 more)	Single nucleotide variant (missense variant)	TWIST1-related craniosynostosis +2 more	GUncertain significance
Select item 1691347	NM_000474.4(TWIST1):c.152G>T (p.Gly51Val)	TWIST1 (G51V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	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 1606520	NM_006494.4(ERF):c.1461C>T (p.Arg487=)	ERF	Single nucleotide variant (synonymous variant)	TWIST1-related craniosynostosis	GLikely benign
Select item 1606403	NM_006494.4(ERF):c.1602C>T (p.Leu534=)	ERF	Single nucleotide variant (synonymous variant)	TWIST1-related craniosynostosis	GLikely benign
Select item 1601642	NM_006494.4(ERF):c.132C>T (p.Gly44=)	ERF	Single nucleotide variant (5 prime UTR variant +1 more)	TWIST1-related craniosynostosis	GBenign
Select item 1592634	NM_006494.4(ERF):c.1152C>T (p.Leu384=)	ERF	Single nucleotide variant (synonymous variant)	TWIST1-related craniosynostosis	GLikely benign
Select item 1519627	NM_006494.4(ERF):c.1306_1309dup (p.Glu437fs)	ERF (E362fs +1 more)	Duplication (frameshift variant)	TWIST1-related craniosynostosis	GLikely pathogenic
Select item 1519033	NM_000474.4(TWIST1):c.253_276dup (p.Gly85_Gly92dup)	TWIST1	Duplication (inframe_insertion +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 1502851	NM_006494.4(ERF):c.911_913del (p.Ser304del)	ERF (S229del +1 more)	Deletion (inframe_deletion)	TWIST1-related craniosynostosis	GUncertain significance
Select item 1500895	NM_006494.4(ERF):c.199T>G (p.Trp67Gly)	ERF (W67G)	Single nucleotide variant (missense variant +1 more)	TWIST1-related craniosynostosis	GUncertain significance
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 1488653	NM_000474.4(TWIST1):c.415C>T (p.Pro139Ser)	TWIST1 (P139S)	Single nucleotide variant (missense variant +1 more)	TWIST1-related craniosynostosis +1 more	GLikely pathogenic
Select item 1487312	NM_006494.4(ERF):c.36G>A (p.Pro12=)	ERF	Single nucleotide variant (5 prime UTR variant +1 more)	TWIST1-related craniosynostosis	GLikely benign
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 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 1474221	NM_000474.4(TWIST1):c.358C>G (p.Arg120Gly)	TWIST1 (R120G)	Single nucleotide variant (missense variant +1 more)	Saethre-Chotzen syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1471286	NM_000474.4(TWIST1):c.262GGC[6] (p.Gly92dup)	TWIST1	Microsatellite (inframe_insertion +1 more)	TWIST1-related craniosynostosis +1 more	GUncertain significance
Select item 1458491	NM_000474.4(TWIST1):c.310G>T (p.Glu104Ter)	TWIST1 (E104*)	Single nucleotide variant (nonsense +1 more)	TWIST1-related craniosynostosis +1 more	GPathogenic
Select item 1457848	NC_000019.9:g.(?_42703590)_(42778729_?)del	DEDD2, ERF +2 more	Deletion	TWIST1-related craniosynostosis	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 1455895	NM_006494.4(ERF):c.71C>G (p.Ser24Ter)	ERF (S24*)	Single nucleotide variant (5 prime UTR variant +1 more)	TWIST1-related craniosynostosis	GPathogenic
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 1451820	NM_000474.4(TWIST1):c.338_339dup (p.Asn114fs)	TWIST1 (N114fs)	Duplication (frameshift variant +1 more)	TWIST1-related craniosynostosis +1 more	GPathogenic
Select item 1434196	NM_000474.4(TWIST1):c.258_261dup (p.Gly88fs)	TWIST1 (G88fs)	Microsatellite (frameshift variant +1 more)	TWIST1-related craniosynostosis +1 more	GPathogenic
Select item 1431451	NM_000474.4(TWIST1):c.161G>T (p.Gly54Val)	TWIST1 (G54V)	Single nucleotide variant (missense variant +1 more)	Saethre-Chotzen syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1424097	NM_000474.4(TWIST1):c.134G>A (p.Ser45Asn)	TWIST1 (S45N)	Single nucleotide variant (missense variant +1 more)	Saethre-Chotzen syndrome +1 more	GUncertain significance
Select item 1420250	NM_000474.4(TWIST1):c.419C>T (p.Ser140Leu)	TWIST1 (S140L)	Single nucleotide variant (non-coding transcript variant +1 more)	Saethre-Chotzen syndrome +1 more	GLikely pathogenic
Select item 1418275	NM_000474.4(TWIST1):c.349G>T (p.Glu117Ter)	TWIST1 (E117*)	Single nucleotide variant (non-coding transcript variant +1 more)	Saethre-Chotzen syndrome +1 more	GPathogenic
Select item 1403054	NM_006494.4(ERF):c.1372C>G (p.Arg458Gly)	ERF (R458G +1 more)	Single nucleotide variant (missense variant)	TWIST1-related craniosynostosis +1 more	GUncertain significance
Select item 1402375	NM_006494.4(ERF):c.1222G>A (p.Gly408Arg)	ERF (G333R +1 more)	Single nucleotide variant (missense variant)	TWIST1-related craniosynostosis	GUncertain significance
Select item 1392697	NM_000474.4(TWIST1):c.245GCG[7] (p.Gly85_Gly86dup)	TWIST1	Microsatellite (inframe_insertion +1 more)	Saethre-Chotzen syndrome +1 more	GUncertain significance
Select item 1357752	NC_000007.13:g.(?_19156336)_(19157207_?)del	TWIST1	Deletion	Saethre-Chotzen syndrome +1 more	GPathogenic
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 1310308	NM_006494.4(ERF):c.652C>T (p.Arg218Ter)	ERF (R143* +1 more)	Single nucleotide variant (nonsense)	TWIST1-related craniosynostosis +1 more	GPathogenic/Likely 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 1205866	NM_000474.4(TWIST1):c.277A>G (p.Ser93Gly)	TWIST1 (S93G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1170174	NM_000474.4(TWIST1):c.330G>A (p.Arg110=)	TWIST1	Single nucleotide variant (synonymous variant +1 more)	Saethre-Chotzen syndrome +2 more	GBenign/Likely benign
Select item 1169687	NM_006494.4(ERF):c.615C>G (p.Arg205=)	ERF	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1169686	NM_006494.4(ERF):c.981C>T (p.Ser327=)	ERF	Single nucleotide variant (synonymous variant)	TWIST1-related craniosynostosis +1 more	GBenign
Select item 1169685	NM_006494.4(ERF):c.1230T>C (p.Ala410=)	ERF	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1167329	NM_006494.4(ERF):c.514C>T (p.Leu172Phe)	ERF (L172F +1 more)	Single nucleotide variant (missense variant)	TWIST1-related craniosynostosis	GBenign
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 1113783	NM_006494.4(ERF):c.597G>A (p.Pro199=)	ERF	Single nucleotide variant (synonymous variant)	TWIST1-related craniosynostosis	GLikely benign
Select item 1109276	NM_006494.4(ERF):c.1052C>T (p.Pro351Leu)	ERF (P276L +1 more)	Single nucleotide variant (missense variant)	TWIST1-related craniosynostosis	GLikely benign

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