C4015519[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 689796	NM_016373.4(WWOX):c.107+1G>A	WWOX	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 571630	NM_016373.4(WWOX):c.173-6T>G	WWOX	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 1 +4 more	GConflicting classifications of pathogenicity
Select item 540245	NM_016373.4(WWOX):c.228T>C (p.Val76=)	WWOX	Single nucleotide variant (5 prime UTR variant +2 more)	Developmental and epileptic encephalopathy, 1 +2 more	GConflicting classifications of pathogenicity
Select item 1029448	NM_016373.4(WWOX):c.325G>A (p.Gly109Ser)	WWOX (G109S)	Single nucleotide variant (5 prime UTR variant +2 more)	Developmental and epileptic encephalopathy, 28 +2 more	GUncertain significance
Select item 473024	NM_016373.4(WWOX):c.406A>G (p.Ile136Val)	WWOX (I136V +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive spinocerebellar ataxia 12 +3 more	GConflicting classifications of pathogenicity
Select item 450592	NM_016373.4(WWOX):c.605+5G>A	WWOX	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 28 +3 more	GConflicting classifications of pathogenicity
Select item 1033412	NM_016373.4(WWOX):c.730C>T (p.Gln244Ter)	WWOX (Q244* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 953615	NM_016373.4(WWOX):c.989A>G (p.Asn330Ser)	WWOX (N330S +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 12 +2 more	GUncertain significance
Select item 410095	NM_016373.4(WWOX):c.995A>C (p.His332Pro)	WWOX (H332P +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 12 +2 more	GUncertain significance
Select item 1033411	NM_016373.4(WWOX):c.*15G>T	MAF, WWOX	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GUncertain significance
Select item 625820	GRCh37/hg19 16q23.1(chr16:78458774-78463512)	WWOX	Copy number loss	Developmental and epileptic encephalopathy, 28	GPathogenic
Select item 625676	GRCh37/hg19 16q23.1(chr16:78409180-78431277)	WWOX	Copy number loss	Developmental and epileptic encephalopathy, 28	GPathogenic
Select item 625675	GRCh37/hg19 16q23.1(chr16:78143268-78154701)	WWOX	Copy number loss	Developmental and epileptic encephalopathy, 28	GPathogenic