"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "WDR83OS - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 2983251	NM_016145.4(WDR83OS):c.255-10C>G	WDR83, WDR83OS	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2031334	NM_016145.4(WDR83OS):c.157-19C>T	WDR83, WDR83OS	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2044099	NM_016145.4(WDR83OS):c.85T>C (p.Leu29=)	WDR83, WDR83OS	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2897198	NM_016145.4(WDR83OS):c.50+9C>G	WDR83, WDR83OS	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 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 specified +1 more	GUncertain significance
Select item 3248506	NC_000019.9:g.(?_12757434)_(13387962_?)dup	BEST2, CACNA1A +29 more	Duplication	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 3248501	NC_000019.9:g.(?_12651855)_(13373667_?)del	BEST2, CACNA1A +32 more	Deletion	Developmental and epileptic encephalopathy, 42 +1 more	GPathogenic
Select item 2423817	NC_000019.9:g.(?_11277234)_(13249220_?)dup	ACP5, ANGPTL8 +68 more	Duplication	not provided	GUncertain significance
Select item 2423225	NC_000019.9:g.(?_12768857)_(12780217_?)del	MAN2B1, WDR83 +1 more	Deletion	Deficiency of alpha-mannosidase	GPathogenic
Select item 2423224	NC_000019.9:g.(?_12757434)_(12780217_?)del	MAN2B1, WDR83 +1 more	Deletion	Deficiency of alpha-mannosidase	GPathogenic
Select item 2422498	NC_000019.9:g.(?_10828919)_(13482613_?)dup	ACP5, ANGPTL8 +81 more	Duplication	Episodic ataxia type 2 +4 more	GUncertain significance
Select item 1457169	NC_000019.9:g.(?_12757434)_(13617038_?)del	BEST2, CACNA1A +29 more	Deletion	Developmental and epileptic encephalopathy, 42 +3 more	GPathogenic