ClinVar for Gene (Select 2077) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3090148	NM_006494.4(ERF):c.818C>G (p.Thr273Ser)	ERF (T273S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3090146	NM_006494.4(ERF):c.635C>T (p.Pro212Leu)	ERF (P212L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3090145	NM_006494.4(ERF):c.596C>A (p.Pro199Gln)	ERF (P124Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3090143	NM_006494.4(ERF):c.1586G>C (p.Arg529Pro)	ERF (R454P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3090142	NM_006494.4(ERF):c.1441A>G (p.Lys481Glu)	ERF (K481E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3090141	NM_006494.4(ERF):c.1338G>C (p.Glu446Asp)	ERF (E371D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3090140	NM_006494.4(ERF):c.1190C>G (p.Ala397Gly)	ERF (A322G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3066347	NM_006494.4(ERF):c.158G>C (p.Gly53Ala)	ERF (G53A)	Single nucleotide variant (5 prime UTR variant +1 more)	Craniosynostosis 4	GLikely pathogenic
Select item 3052000	NM_006494.4(ERF):c.1535A>G (p.Lys512Arg)	ERF (K437R +1 more)	Single nucleotide variant (missense variant)	ERF-related disorder	GUncertain significance
Select item 3047901	NM_006494.4(ERF):c.399G>A (p.Pro133=)	ERF	Single nucleotide variant (synonymous variant)	ERF-related disorder	GLikely benign
Select item 3045186	NM_006494.4(ERF):c.615C>T (p.Arg205=)	ERF	Single nucleotide variant (synonymous variant)	ERF-related disorder	GLikely benign
Select item 3026225	NM_006494.4(ERF):c.536G>A (p.Arg179His)	ERF (R104H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026211	NM_006494.4(ERF):c.535C>T (p.Arg179Cys)	ERF (R104C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025600	NM_006494.4(ERF):c.1266A>G (p.Pro422=)	ERF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 2662658	NM_006494.4(ERF):c.700G>A (p.Val234Ile)	ERF (V159I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662488	NM_006494.4(ERF):c.986G>T (p.Arg329Leu)	ERF (R254L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662185	NM_006494.4(ERF):c.202G>A (p.Gly68Ser)	ERF (G68S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2662121	NM_006494.4(ERF):c.814C>T (p.Pro272Ser)	ERF (P197S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2649941	NM_006494.4(ERF):c.709C>T (p.Arg237Trp)	ERF (R162W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2649940	NM_006494.4(ERF):c.1442A>G (p.Lys481Arg)	ERF (K406R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2649939	NM_006494.4(ERF):c.1444C>T (p.Leu482=)	ERF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2632995	NM_006494.4(ERF):c.70T>G (p.Ser24Ala)	ERF (S24A)	Single nucleotide variant (5 prime UTR variant +1 more)	ERF-related disorder	GUncertain significance
Select item 2623646	NM_006494.4(ERF):c.596C>T (p.Pro199Leu)	ERF (P199L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2581983	NM_006494.4(ERF):c.74G>A (p.Arg25Lys)	ERF (R25K)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2581898	NM_006494.4(ERF):c.835C>T (p.Pro279Ser)	ERF (P204S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579618	NM_006494.4(ERF):c.1613C>T (p.Thr538Met)	ERF (T463M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574205	NM_006494.4(ERF):c.1417G>A (p.Gly473Arg)	ERF (G398R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2572212	NM_006494.4(ERF):c.1318G>A (p.Val440Met)	ERF (V365M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2569754	NM_006494.4(ERF):c.1031G>A (p.Arg344His)	ERF (R269H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2550731	NM_006494.4(ERF):c.479G>A (p.Arg160His)	ERF (R85H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516906	NM_006494.4(ERF):c.934C>T (p.Arg312Trp)	ERF (R237W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514700	NM_006494.4(ERF):c.1565G>C (p.Gly522Ala)	ERF (G522A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2505674	NM_006494.4(ERF):c.1432A>G (p.Met478Val)	ERF (M403V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2494349	NM_006494.4(ERF):c.785C>T (p.Pro262Leu)	ERF (P187L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2474711	NM_006494.4(ERF):c.661C>G (p.Pro221Ala)	ERF (P146A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2445880	NM_006494.4(ERF):c.972C>G (p.Tyr324Ter)	ERF (Y249* +1 more)	Single nucleotide variant (nonsense)	ERF-related disorder	GLikely pathogenic
Select item 2444447	NM_006494.4(ERF):c.90G>A (p.Trp30Ter)	ERF (W30*)	Single nucleotide variant (5 prime UTR variant +1 more)	Neonatal encephalopathy	GLikely pathogenic
Select item 2430469	NM_006494.4(ERF):c.501ATCTTC[1] (p.Ser170_Ser171del)	ERF	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2423350	NC_000019.9:g.(?_39904727)_(42931301_?)dup	ACTMAP, AKT2 +84 more	Duplication	Diamond-Blackfan anemia +3 more	GUncertain significance
Select item 2395214	NM_006494.4(ERF):c.961G>A (p.Val321Ile)	ERF (V246I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2387750	NM_006494.4(ERF):c.1414C>T (p.Pro472Ser)	ERF (P397S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339198	NM_006494.4(ERF):c.1536G>C (p.Lys512Asn)	ERF (K512N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338083	NM_006494.4(ERF):c.289A>G (p.Thr97Ala)	ERF (T22A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332302	NM_006494.4(ERF):c.212A>C (p.Lys71Thr)	ERF (K71T)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2316949	NM_006494.4(ERF):c.1288A>G (p.Ile430Val)	ERF (I355V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298287	NM_006494.4(ERF):c.1088C>T (p.Ser363Leu)	ERF (S288L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292937	NM_006494.4(ERF):c.787C>T (p.Gln263Ter)	ERF (Q263* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 2267916	NM_006494.4(ERF):c.1051C>G (p.Pro351Ala)	ERF (P276A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251480	NM_006494.4(ERF):c.698G>A (p.Arg233Gln)	ERF (R233Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246378	NM_006494.4(ERF):c.17_22+10dup	ERF	Duplication (intron variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2246334	NM_006494.4(ERF):c.1060G>A (p.Ala354Thr)	ERF (A279T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245318	NM_006494.4(ERF):c.221C>G (p.Pro74Arg)	ERF (P74R)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2226112	NM_006494.4(ERF):c.1562C>G (p.Ala521Gly)	ERF (A446G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 2062448	NM_006494.4(ERF):c.1191C>T (p.Ala397=)	ERF	Single nucleotide variant (synonymous variant)	TWIST1-related craniosynostosis	GLikely benign
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 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 1810440	NM_006494.4(ERF):c.1643C>T (p.Ser548Phe)	ERF (S548F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1801892	NM_006494.4(ERF):c.328A>G (p.Lys110Glu)	ERF (K110E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1800531	NM_006494.4(ERF):c.641T>C (p.Leu214Pro)	ERF (L139P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1707521	NM_006494.4(ERF):c.226A>G (p.Met76Val)	ERF (M1V +1 more)	Single nucleotide variant (missense variant +1 more)	Craniosynostosis 4	GUncertain significance
Select item 1700905	NM_006494.4(ERF):c.538C>T (p.Arg180Cys)	ERF (R105C +1 more)	Single nucleotide variant (missense variant)	not provided	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 1696540	NM_006494.4(ERF):c.373+8C>T	ERF	Single nucleotide variant (intron variant)	Craniosynostosis 4 +1 more	GUncertain significance
Select item 1691330	NM_006494.4(ERF):c.205G>A (p.Val69Ile)	ERF (V69I)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	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 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 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 1457848	NC_000019.9:g.(?_42703590)_(42778729_?)del	DEDD2, ERF +2 more	Deletion	TWIST1-related craniosynostosis	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 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 1334510	NM_006494.4(ERF):c.939C>A (p.Tyr313Ter)	ERF (Y238* +1 more)	Single nucleotide variant (nonsense)	Craniosynostosis 4 +1 more	GLikely pathogenic
Select item 1314269	NM_006494.4(ERF):c.626C>G (p.Pro209Arg)	ERF (P134R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1314242	NM_006494.4(ERF):c.94T>C (p.Phe32Leu)	ERF (F32L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1313906	NM_006494.4(ERF):c.433C>T (p.Pro145Ser)	ERF (P145S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1311348	NM_006494.4(ERF):c.739C>A (p.Pro247Thr)	ERF (P172T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1309920	NM_006494.4(ERF):c.64C>T (p.Pro22Ser)	ERF (P22S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance

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