"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "LOC1300 - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 665045	NC_000009.11:g.(?_214957)_(407089_?)dup	DOCK8, DOCK8-AS1 +5 more	Duplication	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 664460	NC_000009.11:g.(?_214957)_(452137_?)dup	DOCK8, DOCK8-AS1 +5 more	Duplication	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 662869	NC_000009.12:g.(?_214957)_(464239_?)del	DOCK8, DOCK8-AS1 +5 more	Deletion	Combined immunodeficiency due to DOCK8 deficiency	GPathogenic
Select item 651254	NC_000009.11:g.(?_214957)_(422155_?)dup	DOCK8, DOCK8-AS1 +5 more	Duplication	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 649076	NC_000009.12:g.(?_214957)_(328191_?)del	LOC130001439, LOC130001440 +5 more	Deletion	Autosomal recessive hyper-IgE syndrome	GPathogenic
Select item 647966	NC_000009.12:g.(?_214957)_(422155_?)del	LOC130001438, LOC130001439 +5 more	Deletion	Autosomal recessive hyper-IgE syndrome	GPathogenic
Select item 584113	NC_000009.11:g.(?_214957)_(340341_?)dup	DOCK8, DOCK8-AS1 +5 more	Duplication	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 584102	NC_000009.11:g.(?_214957)_(215049_?)dup	DOCK8, DOCK8-AS1 +1 more	Duplication	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 583452	NC_000009.11:g.(?_214957)_(464239_?)dup	DOCK8, DOCK8-AS1 +5 more	Duplication	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 536620	NC_000009.11:g.(?_214957)_(271749_?)dup	DOCK8, DOCK8-AS1 +2 more	Duplication	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 536618	NC_000009.11:g.(?_214957)_(289601_?)dup	DOCK8, DOCK8-AS1 +5 more	Duplication	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 468732	NC_000009.12:g.(?_214957)_(215049_?)del	LOC130001437, DOCK8 +1 more	Deletion	Combined immunodeficiency due to DOCK8 deficiency	GPathogenic
Select item 1038580	NM_203447.4(DOCK8):c.4G>A (p.Ala2Thr)	DOCK8, DOCK8-AS1 +1 more (A2T)	Single nucleotide variant (non-coding transcript variant +1 more)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 1586990	NM_203447.4(DOCK8):c.6C>T (p.Ala2=)	DOCK8, DOCK8-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive hyper-IgE syndrome	GLikely benign
Select item 1166762	NM_203447.4(DOCK8):c.8C>G (p.Thr3Ser)	DOCK8, DOCK8-AS1 +1 more (T3S)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive hyper-IgE syndrome	GBenign
Select item 1646669	NM_203447.4(DOCK8):c.10C>T (p.Leu4=)	DOCK8, DOCK8-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive hyper-IgE syndrome	GLikely benign
Select item 384896	NM_203447.4(DOCK8):c.12G>T (p.Leu4=)	DOCK8, DOCK8-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GLikely benign
Select item 2192847	NM_203447.4(DOCK8):c.14C>G (p.Pro5Arg)	DOCK8, DOCK8-AS1 +1 more (P5R)	Single nucleotide variant (non-coding transcript variant +1 more)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 712348	NM_203447.4(DOCK8):c.15G>A (p.Pro5=)	DOCK8, DOCK8-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1036001	NM_203447.4(DOCK8):c.17G>T (p.Ser6Ile)	DOCK8, DOCK8-AS1 +1 more (S6I)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive hyper-IgE syndrome	GUncertain significance
Select item 2919938	NM_203447.4(DOCK8):c.18C>T (p.Ser6=)	DOCK8, DOCK8-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive hyper-IgE syndrome	GLikely benign
Select item 1014680	NM_203447.4(DOCK8):c.22G>A (p.Glu8Lys)	DOCK8-AS1, LOC130001437 +1 more (E8K)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive hyper-IgE syndrome	GUncertain significance
Select item 862528	NM_203447.4(DOCK8):c.24G>C (p.Glu8Asp)	DOCK8, DOCK8-AS1 +1 more (E8D)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1457132	NM_203447.4(DOCK8):c.27_28del (p.Ala11fs)	DOCK8, DOCK8-AS1 +1 more (A11fs)	Deletion (non-coding transcript variant +1 more)	Autosomal recessive hyper-IgE syndrome	GPathogenic
Select item 1160485	NM_203447.4(DOCK8):c.27C>G (p.Arg9=)	DOCK8, DOCK8-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive hyper-IgE syndrome	GLikely benign
Select item 2007016	NM_203447.4(DOCK8):c.33G>A (p.Ala11=)	LOC130001437, DOCK8 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive hyper-IgE syndrome	GLikely benign
Select item 1091055	NM_203447.4(DOCK8):c.36C>G (p.Phe12Leu)	DOCK8, DOCK8-AS1 +1 more (F12L)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive hyper-IgE syndrome	GLikely benign
Select item 366228	NM_203447.4(DOCK8):c.36C>A (p.Phe12Leu)	DOCK8, DOCK8-AS1 +1 more (F12L)	Single nucleotide variant (non-coding transcript variant +1 more)	Combined immunodeficiency due to DOCK8 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1061220	NM_203447.4(DOCK8):c.37G>C (p.Ala13Pro)	DOCK8, DOCK8-AS1 +1 more (A13P)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive hyper-IgE syndrome +1 more	GUncertain significance
Select item 2815683	NM_203447.4(DOCK8):c.39G>A (p.Ala13=)	DOCK8, DOCK8-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive hyper-IgE syndrome	GLikely benign
Select item 854436	NM_203447.4(DOCK8):c.40C>T (p.Leu14Phe)	DOCK8, DOCK8-AS1 +1 more (L14F)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive hyper-IgE syndrome	GUncertain significance
Select item 2185070	NM_203447.4(DOCK8):c.43A>C (p.Lys15Gln)	DOCK8, DOCK8-AS1 +1 more (K15Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive hyper-IgE syndrome	GUncertain significance
Select item 2839604	NM_203447.4(DOCK8):c.48C>T (p.Ile16=)	DOCK8, DOCK8-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive hyper-IgE syndrome	GLikely benign
Select item 2892155	NM_203447.4(DOCK8):c.49A>G (p.Asn17Asp)	LOC130001437, DOCK8 +1 more (N17D)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive hyper-IgE syndrome	GUncertain significance
Select item 854557	NM_203447.4(DOCK8):c.49A>T (p.Asn17Tyr)	DOCK8, DOCK8-AS1 +1 more (N17Y)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive hyper-IgE syndrome	GUncertain significance
Select item 1962106	NM_203447.4(DOCK8):c.50A>G (p.Asn17Ser)	DOCK8, DOCK8-AS1 +1 more (N17S)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive hyper-IgE syndrome	GUncertain significance
Select item 429234	NM_203447.4(DOCK8):c.52A>G (p.Arg18Gly)	DOCK8, DOCK8-AS1 +1 more (R18G)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1370037	NM_203447.4(DOCK8):c.53G>A (p.Arg18Lys)	DOCK8, DOCK8-AS1 +1 more (R18K)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive hyper-IgE syndrome	GUncertain significance

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Items: 38