Related gene-specific medical variations for Gene (Select 51398) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2983251	NM_016145.4(WDR83OS):c.255-10C>G	WDR83, WDR83OS	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2897198	NM_016145.4(WDR83OS):c.50+9C>G	WDR83, WDR83OS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2891607	NM_016145.4(WDR83OS):c.309G>A (p.Thr103=)	WDR83, WDR83OS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2889475	NM_016145.4(WDR83OS):c.271G>A (p.Val91Met)	WDR83, WDR83OS (V91M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2884521	NM_016145.4(WDR83OS):c.115C>T (p.Leu39=)	WDR83, WDR83OS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2860632	NM_016145.4(WDR83OS):c.314dup (p.Trp106fs)	WDR83, WDR83OS (W106fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2577971	NM_016145.4(WDR83OS):c.255-4_260del	WDR83, WDR83OS	Deletion (intron variant +1 more)	not provided	GLikely pathogenic
Select item 2253620	NM_016145.4(WDR83OS):c.22G>C (p.Asp8His)	WDR83, WDR83OS (D8H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2168737	NM_016145.4(WDR83OS):c.8C>G (p.Thr3Ser)	WDR83, WDR83OS (T3S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2078051	NM_016145.4(WDR83OS):c.5C>G (p.Ser2Cys)	WDR83, WDR83OS (S2C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2044099	NM_016145.4(WDR83OS):c.85T>C (p.Leu29=)	WDR83, WDR83OS	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2039517	NM_016145.4(WDR83OS):c.14A>G (p.Asn5Ser)	WDR83, WDR83OS (N5S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2039025	NM_016145.4(WDR83OS):c.39C>T (p.Asn13=)	WDR83, WDR83OS	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2031334	NM_016145.4(WDR83OS):c.157-19C>T	WDR83, WDR83OS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1329852	NM_016145.4(WDR83OS):c.156+1G>T	WDR83OS, WDR83	Single nucleotide variant (intron variant +1 more)	Neurodevelopmental disorder with seizures and speech and walking impairment	GUncertain significance