ClinVar for MedGen (Select 924885) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1805489	NM_004434.3(EML1):c.2272G>A (p.Asp758Asn)	EML1, LOC126862047 (D714N +3 more)	Single nucleotide variant (missense variant)	Band heterotopia of brain	GUncertain significance
Select item 1805488	NM_004434.3(EML1):c.941A>G (p.Asn314Ser)	EML1 (N301S +2 more)	Single nucleotide variant (missense variant)	Band heterotopia of brain	GUncertain significance
Select item 1710368	NM_004434.3(EML1):c.136C>T (p.Gln46Ter)	EML1 (Q33* +1 more)	Single nucleotide variant (nonsense)	Band heterotopia of brain	GLikely pathogenic
Select item 1255383	NM_004434.3(EML1):c.1666T>C (p.Ser556Pro)	EML1 (S543P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 1255382	NM_004434.3(EML1):c.276T>C (p.Pro92=)	EML1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1252021	NM_004434.3(EML1):c.2233G>A (p.Val745Ile)	EML1, LOC126862047 (V701I +3 more)	Single nucleotide variant (missense variant)	Band heterotopia of brain	GUncertain significance
Select item 1031421	NM_004434.3(EML1):c.1820+1G>C	EML1	Single nucleotide variant (splice donor variant)	Band heterotopia of brain	GPathogenic
Select item 1028240	NM_004434.3(EML1):c.1897C>T (p.Arg633Ter)	EML1 (R633* +3 more)	Single nucleotide variant (nonsense)	Band heterotopia of brain	GLikely pathogenic
Select item 548146	NM_004434.3(EML1):c.1567C>T (p.Arg523Ter)	EML1 (R523* +1 more)	Single nucleotide variant (nonsense)	Band heterotopia of brain	GPathogenic
Select item 254260	NM_004434.3(EML1):c.673T>C (p.Trp225Arg)	EML1 (W225R +1 more)	Single nucleotide variant (missense variant)	Band heterotopia of brain	GPathogenic
Select item 254259	NM_004434.3(EML1):c.727A>G (p.Thr243Ala)	EML1 (T243A +1 more)	Single nucleotide variant (missense variant)	Band heterotopia of brain	GPathogenic
Select item 254258	NM_004434.3(EML1):c.412C>T (p.Arg138Ter)	EML1 (R138* +1 more)	Single nucleotide variant (nonsense)	Band heterotopia of brain	GPathogenic