C3280616[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 261855	NM_025132.4(WDR19):c.-9A>G	WDR19	Single nucleotide variant (5 prime UTR variant)	Asphyxiating thoracic dystrophy 5 +5 more	GBenign
Select item 1249114	NM_025132.4(WDR19):c.603+23C>T	WDR19	Single nucleotide variant (intron variant)	Senior-Loken syndrome 8 +4 more	GBenign
Select item 261866	NM_025132.4(WDR19):c.852A>G (p.Ser284=)	WDR19	Single nucleotide variant (synonymous variant)	Asphyxiating thoracic dystrophy 5 +5 more	GBenign
Select item 261867	NM_025132.4(WDR19):c.891C>T (p.Cys297=)	WDR19	Single nucleotide variant (synonymous variant)	Asphyxiating thoracic dystrophy 5 +5 more	GBenign
Select item 261868	NM_025132.4(WDR19):c.910G>A (p.Val304Ile)	WDR19 (V304I +1 more)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 5 +6 more	GBenign
Select item 261857	NM_025132.4(WDR19):c.1357-10T>C	WDR19	Single nucleotide variant (intron variant)	Asphyxiating thoracic dystrophy 5 +6 more	GBenign
Select item 261858	NM_025132.4(WDR19):c.1581C>A (p.Thr527=)	WDR19	Single nucleotide variant (synonymous variant)	Asphyxiating thoracic dystrophy 5 +7 more	GBenign/Likely benign
Select item 348737	NM_025132.4(WDR19):c.1595T>C (p.Ile532Thr)	WDR19 (I532T +1 more)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 8 +3 more	GBenign/Likely benign
Select item 261859	NM_025132.4(WDR19):c.1607G>C (p.Ser536Thr)	WDR19 (S536T +1 more)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 5 +6 more	GBenign
Select item 261861	NM_025132.4(WDR19):c.1915A>G (p.Ser639Gly)	WDR19 (S639G +1 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 4 +4 more	GBenign/Likely benign
Select item 476155	NM_025132.4(WDR19):c.2096G>A (p.Arg699Gln)	WDR19 (R699Q +1 more)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 5 +4 more	GBenign
Select item 348740	NM_025132.4(WDR19):c.2142+12G>A	WDR19	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 4 +5 more	GBenign/Likely benign
Select item 784911	NM_025132.4(WDR19):c.3027C>T (p.Asp1009=)	WDR19	Single nucleotide variant (synonymous variant)	Asphyxiating thoracic dystrophy 5 +3 more	GBenign/Likely benign
Select item 348746	NM_025132.4(WDR19):c.3183+9G>A	WDR19	Single nucleotide variant (intron variant)	Asphyxiating thoracic dystrophy 5 +5 more	GBenign/Likely benign
Select item 261862	NM_025132.4(WDR19):c.3183+16A>G	WDR19	Single nucleotide variant (intron variant)	Asphyxiating thoracic dystrophy 5 +5 more	GBenign
Select item 261863	NM_025132.4(WDR19):c.3250G>A (p.Gly1084Ser)	WDR19 (G1084S +1 more)	Single nucleotide variant (missense variant)	not specified +6 more	GBenign
Select item 261864	NM_025132.4(WDR19):c.3261+12G>A	WDR19	Single nucleotide variant (intron variant)	Asphyxiating thoracic dystrophy 5 +4 more	GBenign/Likely benign
Select item 348751	NM_025132.4(WDR19):c.3416A>G (p.Gln1139Arg)	WDR19 (Q1139R +1 more)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 5 +5 more	GBenign
Select item 1684225	NM_025132.4(WDR19):c.3716+46dup	WDR19	Duplication (intron variant)	Senior-Loken syndrome 8 +3 more	GBenign
Select item 348755	NM_025132.4(WDR19):c.3722C>T (p.Pro1241Leu)	WDR19 (P1241L +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 1265246	NM_025132.4(WDR19):c.3841-27T>C	WDR19	Single nucleotide variant (intron variant)	not provided +4 more	GBenign

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Items: 21