"PreventionGenetics, part of Exact Sciences"[submitter] AND "EML1"[gen - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3045998	NM_004434.3(EML1):c.250+6C>T	EML1	Single nucleotide variant (intron variant)	EML1-related disorder	GLikely benign
Select item 3046559	NM_004434.3(EML1):c.253A>C (p.Arg85=)	EML1	Single nucleotide variant (synonymous variant)	EML1-related disorder	GLikely benign
Select item 1304205	NM_004434.3(EML1):c.356A>G (p.Lys119Arg)	EML1 (K106R +1 more)	Single nucleotide variant (missense variant)	EML1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 777437	NM_004434.3(EML1):c.518+9G>A	EML1	Single nucleotide variant (intron variant)	EML1-related disorder +1 more	GBenign/Likely benign
Select item 3052392	NM_004434.3(EML1):c.519-9T>C	EML1	Single nucleotide variant (intron variant)	EML1-related disorder	GLikely benign
Select item 2635040	NM_004434.3(EML1):c.575G>A (p.Arg192His)	EML1 (R179H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3052796	NM_004434.3(EML1):c.726G>A (p.Pro242=)	EML1	Single nucleotide variant (synonymous variant)	EML1-related disorder	GLikely benign
Select item 762506	NM_004434.3(EML1):c.819C>T (p.Asp273=)	EML1	Single nucleotide variant (synonymous variant)	EML1-related disorder +1 more	GLikely benign
Select item 715034	NM_004434.3(EML1):c.897+9C>T	EML1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2069158	NM_004434.3(EML1):c.1225C>G (p.Gln409Glu)	EML1 (Q428E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 3057263	NM_004434.3(EML1):c.1398T>C (p.Leu466=)	EML1	Single nucleotide variant (synonymous variant)	EML1-related disorder	GLikely benign
Select item 754280	NM_004434.3(EML1):c.1452C>T (p.Leu484=)	EML1	Single nucleotide variant (synonymous variant)	EML1-related disorder +2 more	GLikely benign
Select item 734840	NM_004434.3(EML1):c.1713C>T (p.Asp571=)	EML1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 776861	NM_004434.3(EML1):c.2191+8T>G	EML1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 774911	NM_004434.3(EML1):c.2246A>G (p.His749Arg)	EML1, LOC126862047 (H736R +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign