"ELP2-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2391742	NM_018255.4(ELP2):c.56G>A (p.Arg19Gln)	ELP2 (R19Q)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3035545	NM_018255.4(ELP2):c.174C>T (p.Thr58=)	ELP2	Single nucleotide variant (synonymous variant +2 more)	ELP2-related disorder	GLikely benign
Select item 710518	NM_018255.4(ELP2):c.224C>G (p.Ser75Cys)	ELP2 (S75C)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 745201	NM_018255.4(ELP2):c.375A>C (p.Ala125=)	ELP2	Single nucleotide variant (synonymous variant +2 more)	ELP2-related disorder +1 more	GLikely benign
Select item 2635866	NM_018255.4(ELP2):c.523+574G>A	ELP2 (R158Q +1 more)	Single nucleotide variant (missense variant +1 more)	ELP2-related disorder	GUncertain significance
Select item 784750	NM_018255.4(ELP2):c.523+720C>T	ELP2 (L207F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 3051931	NM_018255.4(ELP2):c.692G>A (p.Cys231Tyr)	ELP2 (C161Y +5 more)	Single nucleotide variant (missense variant +1 more)	ELP2-related disorder	GLikely benign
Select item 791507	NM_018255.4(ELP2):c.788A>G (p.Glu263Gly)	ELP2 (E114G +5 more)	Single nucleotide variant (missense variant +1 more)	ELP2-related disorder +1 more	GLikely benign
Select item 3049226	NM_018255.4(ELP2):c.1035T>C (p.Tyr345=)	ELP2	Single nucleotide variant (synonymous variant +2 more)	ELP2-related disorder	GLikely benign
Select item 2634944	NM_018255.4(ELP2):c.1068C>G (p.Ile356Met)	ELP2 (I207M +5 more)	Single nucleotide variant (missense variant +2 more)	ELP2-related disorder	GUncertain significance
Select item 1012183	NM_018255.4(ELP2):c.1331T>C (p.Leu444Ser)	ELP2 (L295S +8 more)	Single nucleotide variant (missense variant +1 more)	ELP2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 773599	NM_018255.4(ELP2):c.1337T>C (p.Met446Thr)	ELP2 (M376T +8 more)	Single nucleotide variant (missense variant +1 more)	ELP2-related disorder +1 more	GBenign/Likely benign
Select item 791459	NM_018255.4(ELP2):c.1472G>C (p.Ser491Thr)	ELP2 (S421T +8 more)	Single nucleotide variant (missense variant +1 more)	ELP2-related disorder +1 more	GBenign/Likely benign
Select item 727809	NM_018255.4(ELP2):c.1789A>G (p.Ile597Val)	ELP2 (I448V +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 2637310	NM_018255.4(ELP2):c.1972T>C (p.Phe658Leu)	ELP2 (F509L +8 more)	Single nucleotide variant (missense variant +1 more)	ELP2-related disorder	GUncertain significance
Select item 2633391	NM_018255.4(ELP2):c.2222C>T (p.Ala741Val)	ELP2 (A592V +8 more)	Single nucleotide variant (missense variant +1 more)	ELP2-related disorder	GUncertain significance