Allelic Variants - 611888 - OMIM

ETS2 REPRESSOR FACTOR; ERF

Allelic Variants (8 Selected Examples) :

All ClinVar Variants

Number	Phenotype	Mutation	SNP	gnomAD	ClinVar
.0001	CRANIOSYNOSTOSIS 4	ERF, ARG183TER	rs587777006 Ensembl NCBI UCSC	rs587777006	RCV000049336...
.0002	CRANIOSYNOSTOSIS 4	ERF, 2-BP DEL, 891AG	rs587777007 Ensembl NCBI UCSC	-	RCV000049337...
.0003	CRANIOSYNOSTOSIS 4	ERF, ARG86CYS	rs587777008 Ensembl NCBI UCSC	-	RCV000049338...
.0004	CRANIOSYNOSTOSIS 4	ERF, ARG65GLN	rs587777009 Ensembl NCBI UCSC	rs587777009	RCV000049339...
.0005	CRANIOSYNOSTOSIS 4	ERF, GLN424TER	rs587777010 Ensembl NCBI UCSC	-	RCV000049340
.0006	CRANIOSYNOSTOSIS 4	ERF, 1A-G	rs864321681 Ensembl NCBI UCSC	-	RCV000203306...
.0007	CRANIOSYNOSTOSIS 4	ERF, IVS1AS, A-G, -2	rs864321680 Ensembl NCBI UCSC	rs864321680	RCV000203301
.0008	CHITAYAT SYNDROME	ERF, TYR89CYS	rs886041001 Ensembl NCBI UCSC	-	RCV000258152...

611888

ETS2 REPRESSOR FACTOR; ERF

Allelic Variants (8 Selected Examples :

Number	Phenotype	Mutation	SNP	gnomAD	ClinVar
.0001	CRANIOSYNOSTOSIS 4	ERF, ARG183TER	rs587777006	rs587777006	RCV000049336, RCV000534904, RCV000763434, RCV005603595, RCV005861037
.0002	CRANIOSYNOSTOSIS 4	ERF, 2-BP DEL, 891AG	rs587777007	-	RCV000049337, RCV000794846, RCV001267114, RCV001420279, RCV002281897, RCV004562233, RCV004795990, RCV005603596, RCV006696310
.0003	CRANIOSYNOSTOSIS 4	ERF, ARG86CYS	rs587777008	-	RCV000049338, RCV000305113, RCV001060076, RCV004549479, RCV005821656
.0004	CRANIOSYNOSTOSIS 4	ERF, ARG65GLN	rs587777009	rs587777009	RCV000049339, RCV003326341, RCV003509484
.0005	CRANIOSYNOSTOSIS 4	ERF, GLN424TER	rs587777010	-	RCV000049340
.0006	CRANIOSYNOSTOSIS 4	ERF, 1A-G	rs864321681	-	RCV000203306, RCV004719750
.0007	CRANIOSYNOSTOSIS 4	ERF, IVS1AS, A-G, -2	rs864321680	rs864321680	RCV000203301
.0008	CHITAYAT SYNDROME	ERF, TYR89CYS	rs886041001	-	RCV000258152, RCV000481720, RCV002518789

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