"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "EIF2AK3"[g - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2651109	NM_004836.7(EIF2AK3):c.2847T>C (p.Asp949=)	EIF2AK3, LOC101928371	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1426106	NM_004836.7(EIF2AK3):c.2092C>T (p.Arg698Cys)	EIF2AK3, LOC101928371 (R547C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 2578862	NM_004836.7(EIF2AK3):c.1762C>T (p.Arg588Ter)	EIF2AK3 (R437* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 337412	NM_004836.7(EIF2AK3):c.1697A>T (p.Asp566Val)	EIF2AK3 (D566V +1 more)	Single nucleotide variant (missense variant)	Connective tissue disorder +5 more	GConflicting classifications of pathogenicity
Select item 337415	NM_004836.7(EIF2AK3):c.1307-4T>G	EIF2AK3	Single nucleotide variant (intron variant)	Wolcott-Rallison dysplasia +1 more	GBenign/Likely benign
Select item 3026628	NM_004836.7(EIF2AK3):c.1197A>G (p.Ser399=)	EIF2AK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 287371	NM_004836.7(EIF2AK3):c.744C>T (p.Val248=)	EIF2AK3	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1012953	NM_004836.7(EIF2AK3):c.681C>T (p.Asp227=)	EIF2AK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1046778	NM_004836.7(EIF2AK3):c.633+3A>G	EIF2AK3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 193296	NM_004836.7(EIF2AK3):c.154G>A (p.Ala52Thr)	EIF2AK3 (A52T)	Single nucleotide variant (missense variant)	Connective tissue disorder +5 more	GBenign/Likely benign
Select item 786862	NM_004836.7(EIF2AK3):c.69C>T (p.Leu23=)	EIF2AK3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1377842	NM_004836.7(EIF2AK3):c.63G>A (p.Leu21=)	EIF2AK3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 337426	NM_004836.6(EIF2AK3):c.-201A>G	EIF2AK3	Single nucleotide variant (genic upstream transcript variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1176758	GRCh37/hg19 2p11.2(chr2:88007281-90260248)x1	SMYD1, SPMIP9 +8 more	Copy number loss	not provided	GPathogenic