"Baylor Genetics"[submitter] AND "EPS8L2"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1028775	NM_022772.4(EPS8L2):c.206C>T (p.Thr69Met)	EPS8L2 (T69M)	Single nucleotide variant (missense variant)	Hearing loss, autosomal recessive 106	GUncertain significance
Select item 1028776	NM_022772.4(EPS8L2):c.779A>G (p.Asn260Ser)	EPS8L2 (N260S)	Single nucleotide variant (missense variant)	Hearing loss, autosomal recessive 106	GUncertain significance
Select item 625559	GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)	ADM, AKIP1 +243 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic

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