C0432217[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1028303	NM_004836.7(EIF2AK3):c.3095C>G (p.Thr1032Ser)	EIF2AK3, LOC101928371 (T1032S +1 more)	Single nucleotide variant (missense variant)	Wolcott-Rallison dysplasia	GUncertain significance
Select item 2675020	NM_004836.7(EIF2AK3):c.3088-1G>C	EIF2AK3, LOC101928371	Single nucleotide variant (splice acceptor variant)	Wolcott-Rallison dysplasia	GLikely pathogenic
Select item 3241387	NM_004836.7(EIF2AK3):c.3081_3082del (p.Arg1027fs)	EIF2AK3, LOC101928371 (R1027fs +1 more)	Microsatellite (frameshift variant)	Wolcott-Rallison dysplasia	GLikely pathogenic
Select item 2675015	NM_004836.7(EIF2AK3):c.2969A>G (p.Tyr990Cys)	EIF2AK3, LOC101928371 (Y839C +1 more)	Single nucleotide variant (missense variant)	Wolcott-Rallison dysplasia	GLikely pathogenic
Select item 2675017	NM_004836.7(EIF2AK3):c.2890C>T (p.Gln964Ter)	EIF2AK3, LOC101928371 (Q813* +1 more)	Single nucleotide variant (nonsense)	Wolcott-Rallison dysplasia	GLikely pathogenic
Select item 3241388	NM_004836.7(EIF2AK3):c.2778dup (p.Phe927fs)	EIF2AK3, LOC101928371 (F776fs +1 more)	Duplication (non-coding transcript variant +1 more)	Wolcott-Rallison dysplasia	GLikely pathogenic
Select item 2675018	NM_004836.7(EIF2AK3):c.2729_2732del (p.Glu910fs)	EIF2AK3, LOC101928371 (E759fs +1 more)	Microsatellite (non-coding transcript variant +1 more)	Wolcott-Rallison dysplasia	GPathogenic
Select item 807600	NM_004836.7(EIF2AK3):c.2707C>T (p.Arg903Ter)	EIF2AK3, LOC101928371 (R752* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Wolcott-Rallison dysplasia +1 more	GPathogenic
Select item 2675011	NM_004836.7(EIF2AK3):c.2588del (p.Thr862_Leu863insTer)	EIF2AK3, LOC101928371	Deletion (non-coding transcript variant +1 more)	Wolcott-Rallison dysplasia	GLikely pathogenic
Select item 3241391	NM_004836.7(EIF2AK3):c.2256_2286del (p.Ser752fs)	EIF2AK3, LOC101928371 (S601fs +1 more)	Deletion (non-coding transcript variant +1 more)	Wolcott-Rallison dysplasia	GLikely pathogenic
Select item 2675016	NM_004836.7(EIF2AK3):c.2128G>T (p.Glu710Ter)	EIF2AK3, LOC101928371 (E559* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2675014	NM_004836.7(EIF2AK3):c.2125del (p.Ile709fs)	EIF2AK3, LOC101928371 (I558fs +1 more)	Deletion (non-coding transcript variant +1 more)	Wolcott-Rallison dysplasia	GLikely pathogenic
Select item 2675010	NM_004836.7(EIF2AK3):c.1912C>T (p.Arg638Ter)	EIF2AK3 (R487* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 2675019	NM_004836.7(EIF2AK3):c.1886+2T>C	EIF2AK3	Single nucleotide variant (splice donor variant)	Wolcott-Rallison dysplasia	GLikely pathogenic
Select item 1028302	NM_004836.7(EIF2AK3):c.1764-2A>G	EIF2AK3	Single nucleotide variant (splice acceptor variant)	Wolcott-Rallison dysplasia	GLikely pathogenic
Select item 2578862	NM_004836.7(EIF2AK3):c.1762C>T (p.Arg588Ter)	EIF2AK3 (R437* +1 more)	Single nucleotide variant (nonsense)	Wolcott-Rallison dysplasia +1 more	GPathogenic
Select item 2675013	NM_004836.7(EIF2AK3):c.1578dup (p.Ala527fs)	EIF2AK3 (A376fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2675024	NM_004836.7(EIF2AK3):c.1563G>A (p.Trp521Ter)	EIF2AK3 (W370* +1 more)	Single nucleotide variant (nonsense)	Wolcott-Rallison dysplasia	GPathogenic
Select item 2675022	NM_004836.7(EIF2AK3):c.1306+1G>C	EIF2AK3	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 2675021	NM_004836.7(EIF2AK3):c.1306+1G>A	EIF2AK3	Single nucleotide variant (splice donor variant)	Wolcott-Rallison dysplasia	GLikely pathogenic
Select item 3241392	NM_004836.7(EIF2AK3):c.1292G>A (p.Trp431Ter)	EIF2AK3 (W280* +1 more)	Single nucleotide variant (nonsense)	Wolcott-Rallison dysplasia	GLikely pathogenic
Select item 1028301	NM_004836.7(EIF2AK3):c.1085C>T (p.Thr362Ile)	EIF2AK3 (T362I +1 more)	Single nucleotide variant (missense variant)	Wolcott-Rallison dysplasia	GUncertain significance
Select item 2675009	NM_004836.7(EIF2AK3):c.1002+2T>C	EIF2AK3	Single nucleotide variant (splice donor variant)	Wolcott-Rallison dysplasia	GLikely pathogenic
Select item 2675008	NM_004836.7(EIF2AK3):c.1002+1G>C	EIF2AK3	Single nucleotide variant (splice donor variant)	Wolcott-Rallison dysplasia	GLikely pathogenic
Select item 3241389	NM_004836.7(EIF2AK3):c.768del	EIF2AK3	Deletion (splice acceptor variant)	Wolcott-Rallison dysplasia	GLikely pathogenic
Select item 2675012	NM_004836.7(EIF2AK3):c.672G>A (p.Trp224Ter)	EIF2AK3 (W224* +1 more)	Single nucleotide variant (nonsense)	Wolcott-Rallison dysplasia	GLikely pathogenic
Select item 1175192	NM_004836.7(EIF2AK3):c.641A>G (p.Tyr214Cys)	EIF2AK3 (Y214C +1 more)	Single nucleotide variant (missense variant)	Wolcott-Rallison dysplasia	GLikely pathogenic
Select item 2675025	NM_004836.7(EIF2AK3):c.598_599del (p.Leu200fs)	EIF2AK3 (L200fs +1 more)	Microsatellite (frameshift variant)	Wolcott-Rallison dysplasia	GLikely pathogenic
Select item 2675023	NM_004836.7(EIF2AK3):c.439del	EIF2AK3	Deletion	Wolcott-Rallison dysplasia	GLikely pathogenic
Select item 3241386	NM_004836.7(EIF2AK3):c.295C>T (p.Arg99Ter)	EIF2AK3 (R99*)	Single nucleotide variant (nonsense)	Wolcott-Rallison dysplasia	GLikely pathogenic

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Items: 30