"Clinical Genetics, Academic Medical Center"[submitter] AND "ELP1"[gen - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 380135	NM_003640.5(ELP1):c.3347-15A>G	ELP1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 364562	NM_003640.5(ELP1):c.3222+14C>T	ELP1	Single nucleotide variant (intron variant)	ELP1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 259111	NM_003640.5(ELP1):c.3069G>C (p.Leu1023=)	ELP1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 259109	NM_003640.5(ELP1):c.2855A>T (p.Lys952Ile)	ELP1 (K952I +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 242293	NM_003640.5(ELP1):c.2825G>A (p.Arg942Gln)	ELP1 (R942Q +2 more)	Single nucleotide variant (missense variant)	Medulloblastoma +3 more	GConflicting classifications of pathogenicity
Select item 364564	NM_003640.5(ELP1):c.2803A>T (p.Thr935Ser)	ELP1 (T935S +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 137580	NM_003640.5(ELP1):c.2587+14C>T	ELP1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 245634	NM_003640.5(ELP1):c.2543C>A (p.Thr848Asn)	ELP1 (T848N +2 more)	Single nucleotide variant (missense variant)	Familial dysautonomia +3 more	GBenign/Likely benign
Select item 6085	NM_003640.5(ELP1):c.2204+6T>C	ELP1	Single nucleotide variant (intron variant)	Medulloblastoma +3 more	GPathogenic
Select item 6086	NM_003640.5(ELP1):c.2087G>C (p.Arg696Pro)	ELP1 (R696P +2 more)	Single nucleotide variant (missense variant)	Familial dysautonomia +2 more	GPathogenic/Likely pathogenic
Select item 364569	NM_003640.5(ELP1):c.1911T>C (p.Val637=)	ELP1	Single nucleotide variant (synonymous variant)	Familial dysautonomia +2 more	GConflicting classifications of pathogenicity
Select item 137572	NM_003640.5(ELP1):c.959-15C>T	ELP1	Single nucleotide variant (intron variant)	Medulloblastoma +3 more	GBenign/Likely benign
Select item 137571	NM_003640.5(ELP1):c.934G>A (p.Glu312Lys)	ELP1 (E312K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 137569	NM_003640.5(ELP1):c.751A>G (p.Ser251Gly)	ELP1 (S251G +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +2 more	GBenign/Likely benign