"PreventionGenetics, part of Exact Sciences"[submitter] AND "EFR3A"[ge - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3046203	NM_015137.6(EFR3A):c.305A>G (p.His102Arg)	EFR3A (H102R +1 more)	Single nucleotide variant (missense variant +1 more)	EFR3A-related disorder	GBenign
Select item 3059061	NM_015137.6(EFR3A):c.489-6_489-5del	EFR3A	Deletion (intron variant)	EFR3A-related disorder	GBenign
Select item 2634906	NM_015137.6(EFR3A):c.489G>T (p.Glu163Asp)	EFR3A (E127D +1 more)	Single nucleotide variant (missense variant +1 more)	EFR3A-related disorder	GUncertain significance
Select item 3058019	NM_015137.6(EFR3A):c.543C>T (p.Asn181=)	EFR3A	Single nucleotide variant (synonymous variant +1 more)	EFR3A-related disorder	GBenign
Select item 3034454	NM_015137.6(EFR3A):c.591T>G (p.Ile197Met)	EFR3A (I161M +1 more)	Single nucleotide variant (missense variant +1 more)	EFR3A-related disorder	GBenign
Select item 3060704	NM_015137.6(EFR3A):c.639-3T>C	EFR3A	Single nucleotide variant (intron variant)	EFR3A-related disorder	GBenign
Select item 3045553	NM_015137.6(EFR3A):c.641G>A (p.Arg214His)	EFR3A (R178H +1 more)	Single nucleotide variant (missense variant +1 more)	EFR3A-related disorder	GLikely benign
Select item 2636914	NM_015137.6(EFR3A):c.643A>C (p.Ile215Leu)	EFR3A (I179L +1 more)	Single nucleotide variant (missense variant +1 more)	EFR3A-related disorder	GUncertain significance
Select item 3042269	NM_015137.6(EFR3A):c.654T>G (p.Pro218=)	EFR3A	Single nucleotide variant (synonymous variant +1 more)	EFR3A-related disorder	GLikely benign
Select item 3060862	NM_015137.6(EFR3A):c.795A>T (p.Lys265Asn)	EFR3A (K229N +1 more)	Single nucleotide variant (missense variant +1 more)	EFR3A-related disorder	GBenign
Select item 3057993	NM_015137.6(EFR3A):c.856-9C>T	EFR3A	Single nucleotide variant (intron variant)	EFR3A-related disorder	GLikely benign
Select item 3044754	NM_015137.6(EFR3A):c.996G>A (p.Pro332=)	EFR3A	Single nucleotide variant (synonymous variant +1 more)	EFR3A-related disorder	GLikely benign
Select item 3061528	NM_015137.6(EFR3A):c.1323T>C (p.Leu441=)	EFR3A	Single nucleotide variant (synonymous variant +1 more)	EFR3A-related disorder	GLikely benign
Select item 3042158	NM_015137.6(EFR3A):c.1390T>C (p.Leu464=)	EFR3A	Single nucleotide variant (synonymous variant +1 more)	EFR3A-related disorder	GLikely benign
Select item 3055688	NM_015137.6(EFR3A):c.1873A>G (p.Ile625Val)	EFR3A (I589V +1 more)	Single nucleotide variant (missense variant +1 more)	EFR3A-related disorder	GBenign
Select item 3050086	NM_015137.6(EFR3A):c.2023A>G (p.Ser675Gly)	EFR3A (S639G +1 more)	Single nucleotide variant (missense variant +1 more)	EFR3A-related disorder	GLikely benign
Select item 3059722	NM_015137.6(EFR3A):c.2065+1011C>T	EFR3A (P697S)	Single nucleotide variant (missense variant +1 more)	EFR3A-related disorder	GLikely benign
Select item 3049525	NM_015137.6(EFR3A):c.2082T>G (p.Ser694=)	EFR3A	Single nucleotide variant (synonymous variant +1 more)	EFR3A-related disorder	GLikely benign
Select item 2635198	NM_015137.6(EFR3A):c.2174A>G (p.Glu725Gly)	EFR3A (E689G +2 more)	Single nucleotide variant (missense variant +1 more)	EFR3A-related disorder	GUncertain significance
Select item 3038625	NM_015137.6(EFR3A):c.2311-5del	EFR3A	Deletion (intron variant)	EFR3A-related disorder	GBenign
Select item 3039642	NM_015137.6(EFR3A):c.2311-9T>A	EFR3A	Single nucleotide variant (intron variant)	EFR3A-related disorder	GBenign
Select item 3045399	NM_015137.6(EFR3A):c.2370C>A (p.Pro790=)	EFR3A	Single nucleotide variant (synonymous variant +1 more)	EFR3A-related disorder	GLikely benign

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Items: 22