ERF[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic
Select item 545227	Single allele	LOC130064626, LOC130064627 +215 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 60102	GRCh38/hg38 19q13.2-13.31(chr19:41930894-43141456)x1	ATP1A3, CEACAM1 +95 more	Copy number loss	See cases	GPathogenic
Select item 1064657	NC_000019.10:g.41952441_42266625del	ATP1A3, DEDD2 +42 more	Deletion	Syndromic craniosynostosis	GPathogenic
Select item 1064661	GRCh38/hg38 19q13.2(chr19:41987984-42252574)x1	ATP1A3, DEDD2 +34 more	Copy number loss	Syndromic intellectual disability	GPathogenic
Select item 1064660	NC_000019.10:g.42032860_42297536del	CIC, DEDD2 +43 more	Deletion	Syndromic craniosynostosis	GPathogenic
Select item 1064662	GRCh38/hg38 19q13.2(chr19:42198610-42249880)x1	DEDD2, ERF +11 more	Copy number loss	Syndromic intellectual disability	GPathogenic
Select item 1064659	NC_000019.10:g.42227530_42259211del	ERF, GSK3A +8 more	Deletion	Macrocephaly	GPathogenic
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 3276318	NM_006494.4(ERF):c.1637G>A (p.Arg546Gln)	ERF (R546Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 599007	NM_006494.4(ERF):c.1636C>T (p.Arg546Ter)	ERF (R546* +1 more)	Single nucleotide variant (nonsense)	Atrial septal defect +11 more	GUncertain significance
Select item 707601	NM_006494.4(ERF):c.1614G>A (p.Thr538=)	ERF	Single nucleotide variant (synonymous variant)	TWIST1-related craniosynostosis	GBenign
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 1606403	NM_006494.4(ERF):c.1602C>T (p.Leu534=)	ERF	Single nucleotide variant (synonymous variant)	TWIST1-related craniosynostosis	GLikely benign
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 451358	NM_006494.4(ERF):c.1569del (p.Leu525fs)	ERF (L450fs +1 more)	Deletion (frameshift variant)	not provided	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 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 3066025	NM_006494.4(ERF):c.1551del (p.Pro518fs)	ERF (P443fs +1 more)	Deletion (frameshift variant)	Noonan syndrome	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 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 718577	NM_006494.4(ERF):c.1527G>C (p.Glu509Asp)	ERF (E434D +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2684000	NM_006494.4(ERF):c.1509del (p.Phe504fs)	ERF (F429fs +1 more)	Deletion (frameshift variant)	Noonan Syndrome-like developmental disorder	GPathogenic
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 964810	NM_006494.4(ERF):c.1478G>A (p.Arg493His)	ERF (R418H +1 more)	Single nucleotide variant (missense variant)	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 3372399	NM_006494.4(ERF):c.1459C>T (p.Arg487Cys)	ERF (R412C +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 3252643	NM_006494.4(ERF):c.1443G>C (p.Lys481Asn)	ERF (K406N +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 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 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 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 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 727431	NM_006494.4(ERF):c.1404C>T (p.Pro468=)	ERF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3276317	NM_006494.4(ERF):c.1401G>T (p.Glu467Asp)	ERF (E392D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2889188	NM_006494.4(ERF):c.1372C>T (p.Arg458Cys)	ERF (R458C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 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 1307735	NM_006494.4(ERF):c.1326_1327insCA (p.Ile443fs)	ERF (I368fs +1 more)	Insertion (frameshift 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 1519627	NM_006494.4(ERF):c.1306_1309dup (p.Glu437fs)	ERF (E362fs +1 more)	Duplication (frameshift variant)	TWIST1-related craniosynostosis	GLikely pathogenic
Select item 691920	NM_006494.4(ERF):c.1300G>A (p.Glu434Lys)	ERF (E359K +1 more)	Single nucleotide variant (missense variant)	Craniosynostosis syndrome	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 55927	NM_006494.4(ERF):c.1270C>T (p.Gln424Ter)	ERF (Q424* +1 more)	Single nucleotide variant (nonsense)	Craniosynostosis 4	GPathogenic
Select item 3025600	NM_006494.4(ERF):c.1266A>G (p.Pro422=)	ERF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 722235	NM_006494.4(ERF):c.1263G>A (p.Pro421=)	ERF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 476626	NM_006494.4(ERF):c.1263G>C (p.Pro421=)	ERF	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 800173	NM_006494.4(ERF):c.1262C>T (p.Pro421Leu)	ERF (P346L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 543069	NM_006494.4(ERF):c.1243_1245del (p.Ala415del)	ERF (A415del +1 more)	Deletion (inframe_deletion)	TWIST1-related craniosynostosis	GUncertain significance
Select item 476625	NM_006494.4(ERF):c.1244C>T (p.Ala415Val)	ERF (A415V +1 more)	Single nucleotide variant (missense variant)	TWIST1-related craniosynostosis +1 more	GBenign/Likely benign
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 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 420168	NM_006494.4(ERF):c.1201_1202del (p.Lys401fs)	ERF (K326fs +1 more)	Deletion (frameshift variant)	Chitayat syndrome +6 more	GPathogenic/Likely pathogenic
Select item 941315	NM_006494.4(ERF):c.1201A>G (p.Lys401Glu)	ERF (K401E +1 more)	Single nucleotide variant (missense variant)	TWIST1-related craniosynostosis	GUncertain significance
Select item 702043	NM_006494.4(ERF):c.1192G>A (p.Gly398Ser)	ERF (G323S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
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 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 817254	NM_006494.4(ERF):c.1177del (p.Glu393fs)	ERF (E318fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3348451	NM_006494.4(ERF):c.1165C>T (p.Arg389Trp)	ERF (R314W +1 more)	Single nucleotide variant (missense variant)	ERF-related disorder	GUncertain significance
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 2827652	NM_006494.4(ERF):c.1143G>T (p.Pro381=)	ERF	Single nucleotide variant (synonymous variant)	TWIST1-related craniosynostosis	GLikely benign
Select item 476624	NM_006494.4(ERF):c.1104TTC[3] (p.Ser373del)	ERF (S373del +1 more)	Microsatellite (inframe_deletion)	not provided +1 more	GLikely benign
Select item 476623	NM_006494.4(ERF):c.1104T>C (p.Ser368=)	ERF	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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 722636	NM_006494.4(ERF):c.1080C>T (p.Val360=)	ERF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 423954	NM_006494.4(ERF):c.1072_1073del (p.Pro358fs)	ERF (P358fs +1 more)	Deletion (frameshift variant)	TWIST1-related craniosynostosis +1 more	GPathogenic/Likely pathogenic
Select item 3276319	NM_006494.4(ERF):c.1063C>T (p.Pro355Ser)	ERF (P355S +1 more)	Single nucleotide variant (missense variant)	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 978496	NM_006494.4(ERF):c.1057A>G (p.Met353Val)	ERF (M353V +1 more)	Single nucleotide variant (missense 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
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 977100	NM_006494.4(ERF):c.1049del (p.Leu350fs)	ERF (L275fs +1 more)	Deletion (frameshift variant)	Craniosynostosis 4	GLikely pathogenic
Select item 701836	NM_006494.4(ERF):c.1046C>T (p.Pro349Leu)	ERF (P349L +1 more)	Single nucleotide variant (missense variant)	TWIST1-related craniosynostosis +1 more	GBenign/Likely benign
Select item 2810553	NM_006494.4(ERF):c.997_1034del (p.Leu332_His333insTer)	ERF	Deletion (nonsense)	TWIST1-related craniosynostosis	GPathogenic
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 1031050	NM_006494.4(ERF):c.1030C>G (p.Arg344Gly)	ERF (R269G +1 more)	Single nucleotide variant (missense variant)	Craniosynostosis 4	GUncertain significance
Select item 3372013	NM_006494.4(ERF):c.1029G>C (p.Gln343His)	ERF (Q268H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2133130	NM_006494.4(ERF):c.1021del (p.Gln341fs)	ERF (Q341fs +1 more)	Deletion (frameshift variant)	TWIST1-related craniosynostosis	GPathogenic
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 3373213	NM_006494.4(ERF):c.985C>T (p.Arg329Cys)	ERF (R254C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1169686	NM_006494.4(ERF):c.981C>T (p.Ser327=)	ERF	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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 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 774374	NM_006494.4(ERF):c.942G>A (p.Leu314=)	ERF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3276321	NM_006494.4(ERF):c.935G>A (p.Arg312Gln)	ERF (R237Q +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 1502851	NM_006494.4(ERF):c.911_913del (p.Ser304del)	ERF (S229del +1 more)	Deletion (inframe_deletion)	TWIST1-related craniosynostosis	GUncertain significance
Select item 55924	NM_006494.4(ERF):c.891_892del (p.Gly299fs)	ERF (G299fs +1 more)	Deletion (frameshift variant)	See cases +5 more	GPathogenic/Likely pathogenic
Select item 435084	NM_006494.4(ERF):c.885C>T (p.Ser295=)	ERF	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 445429	NM_006494.4(ERF):c.879del (p.Ser295fs)	ERF (S220fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3365696	NM_006494.4(ERF):c.862C>T (p.Pro288Ser)	ERF (P213S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 476629	NM_006494.4(ERF):c.840G>A (p.Ser280=)	ERF	Single nucleotide variant (synonymous variant)	TWIST1-related craniosynostosis	GBenign
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 1061160	NM_006494.4(ERF):c.830A>G (p.Tyr277Cys)	ERF (Y202C +1 more)	Single nucleotide variant (missense variant)	TWIST1-related craniosynostosis	GUncertain significance
Select item 1043453	NM_006494.4(ERF):c.824T>C (p.Leu275Pro)	ERF (L200P +1 more)	Single nucleotide variant (missense variant)	TWIST1-related craniosynostosis +1 more	GConflicting classifications of pathogenicity
Select item 2149172	NM_006494.4(ERF):c.823C>T (p.Leu275=)	ERF	Single nucleotide variant (synonymous variant)	TWIST1-related craniosynostosis	GLikely benign

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