"GeneDx"[submitter] AND "EIF2S3"[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 451349	NM_001415.4(EIF2S3):c.5C>G (p.Ala2Gly)	EIF2S3, LOC130068055 (A2G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 128994	NM_001415.4(EIF2S3):c.99C>T (p.His33=)	EIF2S3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 449956	NM_001415.4(EIF2S3):c.134-6C>G	EIF2S3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 512433	NM_001415.4(EIF2S3):c.134-4A>G	EIF2S3	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1706209	NM_001415.4(EIF2S3):c.139A>G (p.Ile47Val)	EIF2S3 (I47V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1313321	NM_001415.4(EIF2S3):c.379G>A (p.Val127Ile)	EIF2S3 (V127I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504521	NM_001415.4(EIF2S3):c.622C>T (p.Leu208Phe)	EIF2S3 (L208F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1254423	NM_001415.4(EIF2S3):c.670A>G (p.Ile224Val)	EIF2S3 (I224V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1878681	NM_001415.4(EIF2S3):c.733G>C (p.Val245Leu)	EIF2S3 (V245L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1326510	NM_001415.4(EIF2S3):c.929T>A (p.Met310Lys)	EIF2S3 (M310K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1253858	NM_001415.4(EIF2S3):c.1003G>A (p.Gly335Ser)	EIF2S3 (G335S)	Single nucleotide variant (missense variant)	MEHMO syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1878657	NM_001415.4(EIF2S3):c.1046G>A (p.Arg349Gln)	EIF2S3 (R349Q)	Single nucleotide variant (missense variant)	MEHMO syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2574768	NM_001415.4(EIF2S3):c.1309G>A (p.Val437Ile)	EIF2S3 (V437I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 265789	NM_001415.4(EIF2S3):c.1394_1397del (p.Ile465fs)	EIF2S3 (I465fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 253949	GRCh37/hg19 Xp22.11-21.3(chrX:24006637-25035452)x2	PCYT1B, POLA1 +7 more	Copy number gain	See cases	GUncertain significance
Select item 253928	GRCh37/hg19 Xp22.11(chrX:23693142-24483640)x2	SUPT20HL2, APOO +9 more	Copy number gain	See cases	GUncertain significance
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +822 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	GAGE12F, GAGE12G +822 more	Copy number gain	See cases	GPathogenic
Select item 253615	GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3	ACE2, ACOT9 +316 more	Copy number gain	See cases	GPathogenic
Select item 253613	GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	FOXP3, FOXR2 +786 more	Copy number gain	See cases	GPathogenic
Select item 253602	GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	MCTS1, MECP2 +821 more	Copy number gain	See cases	GPathogenic
Select item 253583	GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	ABCB7, ABCD1 +821 more	Copy number gain	See cases	GPathogenic
Select item 253571	GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1	ACE2, ACOT9 +316 more	Copy number loss	See cases	GPathogenic
Select item 253523	GRCh37/hg19 Xp22.33-21.3(chrX:1378591-25940311)x2	CTPS2, FAM9C +106 more	Copy number gain	See cases	GPathogenic
Select item 253495	GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	ABCB7, ABCD1 +821 more	Copy number loss	See cases	GPathogenic
Select item 253492	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	EOLA2, ERAS +822 more	Copy number loss	See cases	GPathogenic
Select item 253489	GRCh37/hg19 Xp22.33-21.1(chrX:71267-35809046)x1	DCAF8L2, TBL1X +126 more	Copy number loss	See cases	GPathogenic
Select item 253487	GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	ABCB7, ABCD1 +822 more	Copy number gain	See cases	GPathogenic
Select item 253458	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	RENBP, REPS2 +821 more	Copy number gain	See cases	GPathogenic
Select item 253438	GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	SPANXD, TCEAL4 +822 more	Copy number gain	See cases	GPathogenic
Select item 253432	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3	ARMCX2, CFAP47 +821 more	Copy number gain	See cases	GPathogenic
Select item 253389	GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2	ABCB7, ABCD1 +821 more	Copy number gain	See cases	GPathogenic
Select item 253376	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3	MAGEE2, MTRNR2L10 +822 more	Copy number gain	See cases	GPathogenic

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Items: 33