C4722305[trait identifier] AND "Labcorp Genetics (formerly Invitae), L - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 466

<< First< Prev

Page of 5

	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 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 1056064	NM_203447.4(DOCK8):c.2T>C (p.Met1Thr)	DOCK8-AS1, DOCK8 (M1T)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified +2 more	GUncertain significance
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 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 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 753875	NM_203447.4(DOCK8):c.53+10C>T	DOCK8, DOCK8-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Combined immunodeficiency due to DOCK8 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 366229	NM_203447.4(DOCK8):c.53+11C>T	DOCK8, DOCK8-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 666222	NC_000009.11:g.(?_271607)_(340341_?)dup	LOC126860552, LOC130001439 +2 more	Duplication	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 265359	NM_203447.4(DOCK8):c.54-1G>T	DOCK8	Single nucleotide variant (splice acceptor variant)	Combined immunodeficiency due to DOCK8 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 584159	NC_000009.11:g.(?_271627)_(382685_?)dup	DOCK8, LOC126860552 +2 more	Duplication	Combined immunodeficiency due to DOCK8 deficiency	GLikely pathogenic
Select item 584127	NC_000009.11:g.(?_271627)_(399259_?)dup	DOCK8, LOC126860552 +2 more	Duplication	Combined immunodeficiency due to DOCK8 deficiency	GLikely pathogenic
Select item 137155	NM_203447.4(DOCK8):c.65C>T (p.Ala22Val)	DOCK8 (A22V)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 1045219	NM_203447.4(DOCK8):c.84T>G (p.Phe28Leu)	DOCK8 (F28L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1024319	NM_203447.4(DOCK8):c.156A>G (p.Leu52=)	DOCK8	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 914146	NM_203447.4(DOCK8):c.156+7A>G	DOCK8	Single nucleotide variant (intron variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 536619	NC_000009.12:g.(?_286441)_(464239_?)del	DOCK8, LOC126860552	Deletion	Combined immunodeficiency due to DOCK8 deficiency	GPathogenic
Select item 468733	NC_000009.12:g.(?_286441)_(289601_?)del	DOCK8, LOC126860552	Deletion	Combined immunodeficiency due to DOCK8 deficiency	GLikely pathogenic
Select item 137156	NM_203447.4(DOCK8):c.187G>A (p.Asp63Asn)	DOCK8, LOC126860552 (D63N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +3 more	GBenign
Select item 2129812	NM_203447.4(DOCK8):c.196G>A (p.Gly66Arg)	DOCK8, LOC126860552 (G66R)	Single nucleotide variant (5 prime UTR variant +1 more)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 366536	NM_203447.4(DOCK8):c.218A>G (p.Asn73Ser)	DOCK8, LOC126860552 (N73S +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency +1 more	GUncertain significance
Select item 844078	NM_203447.4(DOCK8):c.223C>G (p.Leu75Val)	DOCK8, LOC126860552 (L75V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1011554	NM_203447.4(DOCK8):c.236T>C (p.Leu79Pro)	DOCK8, LOC126860552 (L11P +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 745490	NM_203447.4(DOCK8):c.240C>G (p.Ala80=)	DOCK8, LOC126860552	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to DOCK8 deficiency	GLikely benign
Select item 366537	NM_203447.4(DOCK8):c.277G>T (p.Val93Leu)	DOCK8, LOC126860552 (V93L +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency +1 more	GUncertain significance
Select item 178766	NM_203447.4(DOCK8):c.289C>A (p.Pro97Thr)	DOCK8, LOC126860552 (P97T +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 2162684	NM_203447.4(DOCK8):c.300T>C (p.Cys100=)	DOCK8, LOC126860552	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 196605	NM_203447.4(DOCK8):c.314C>G (p.Pro105Arg)	DOCK8, LOC126860552 (P105R +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency +1 more	GUncertain significance
Select item 1899093	NM_203447.4(DOCK8):c.323C>T (p.Pro108Leu)	DOCK8, LOC126860552 (P108L +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 663752	NM_203447.4(DOCK8):c.349C>T (p.His117Tyr)	DOCK8 (H117Y +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 645502	NM_203447.4(DOCK8):c.367C>G (p.Gln123Glu)	DOCK8 (Q55E +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 758663	NM_203447.4(DOCK8):c.372C>T (p.Thr124=)	DOCK8	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to DOCK8 deficiency	GLikely benign
Select item 502648	NM_203447.4(DOCK8):c.378C>G (p.Ile126Met)	DOCK8 (I126M +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive hyper-IgE syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2183978	NM_203447.4(DOCK8):c.379C>T (p.Arg127Cys)	DOCK8 (R127C +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 366538	NM_203447.4(DOCK8):c.380G>A (p.Arg127His)	DOCK8 (R127H +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 2123192	NM_203447.4(DOCK8):c.398A>G (p.Asn133Ser)	DOCK8 (N133S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 939439	NM_203447.4(DOCK8):c.400C>T (p.Arg134Trp)	DOCK8 (R134W +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 642058	NC_000009.11:g.(?_304561)_(464239_?)dup	DOCK8	Duplication	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 468735	NC_000009.12:g.(?_304561)_(464239_?)del	DOCK8	Deletion	Combined immunodeficiency due to DOCK8 deficiency	GPathogenic
Select item 1447644	NM_203447.4(DOCK8):c.405-16A>G	DOCK8	Single nucleotide variant (intron variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 1005299	NM_203447.4(DOCK8):c.415A>G (p.Ser139Gly)	DOCK8 (S139G +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 373689	NM_203447.4(DOCK8):c.431_432delinsTT (p.Gly144Val)	DOCK8 (G144V +1 more)	Indel (missense variant)	not specified +1 more	GUncertain significance
Select item 366540	NM_203447.4(DOCK8):c.452G>A (p.Arg151Gln)	DOCK8 (R151Q +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 913367	NM_203447.4(DOCK8):c.470C>T (p.Thr157Met)	DOCK8 (T157M +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive hyper-IgE syndrome +2 more	GBenign/Likely benign
Select item 665563	NM_203447.4(DOCK8):c.476C>T (p.Pro159Leu)	DOCK8 (P91L +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 366541	NM_203447.4(DOCK8):c.494C>T (p.Ser165Leu)	DOCK8 (S165L +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 366542	NM_203447.4(DOCK8):c.528+13A>G	DOCK8	Single nucleotide variant (intron variant)	Combined immunodeficiency due to DOCK8 deficiency +3 more	GBenign
Select item 366543	NM_203447.4(DOCK8):c.536C>T (p.Pro179Leu)	DOCK8 (P179L +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency +1 more	GUncertain significance
Select item 857419	NM_203447.4(DOCK8):c.538C>T (p.Arg180Cys)	DOCK8 (R112C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 571149	NM_203447.4(DOCK8):c.539G>A (p.Arg180His)	DOCK8 (R180H +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 709398	NM_203447.4(DOCK8):c.541C>G (p.His181Asp)	DOCK8 (H113D +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 366544	NM_203447.4(DOCK8):c.550G>A (p.Val184Met)	DOCK8 (V184M +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 646461	NM_203447.4(DOCK8):c.559G>A (p.Asp187Asn)	DOCK8 (D187N +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 581803	NM_203447.4(DOCK8):c.562G>A (p.Val188Met)	DOCK8 (V188M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1022529	NM_203447.4(DOCK8):c.566C>T (p.Ser189Phe)	DOCK8 (S121F +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 1462969	NM_203447.4(DOCK8):c.568G>A (p.Gly190Arg)	DOCK8 (G122R +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 914488	NM_203447.4(DOCK8):c.578C>G (p.Pro193Arg)	DOCK8 (P125R +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 1433843	NM_203447.4(DOCK8):c.590G>A (p.Cys197Tyr)	DOCK8 (C129Y +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 536598	NM_203447.4(DOCK8):c.623A>G (p.Lys208Arg)	DOCK8 (K208R +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency +1 more	GUncertain significance
Select item 366545	NM_203447.4(DOCK8):c.626G>A (p.Arg209Gln)	DOCK8 (R209Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 468741	NM_203447.4(DOCK8):c.656C>T (p.Ala219Val)	DOCK8 (A219V +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency +1 more	GUncertain significance
Select item 1402768	NM_203447.4(DOCK8):c.658G>A (p.Glu220Lys)	DOCK8 (E152K +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 366546	NM_203447.4(DOCK8):c.663C>A (p.Asp221Glu)	DOCK8 (D221E +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1517507	NM_203447.4(DOCK8):c.664T>A (p.Phe222Ile)	DOCK8 (F222I +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency +1 more	GUncertain significance
Select item 516569	NM_203447.4(DOCK8):c.679G>A (p.Glu227Lys)	DOCK8 (E227K +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive hyper-IgE syndrome +2 more	GBenign
Select item 198296	NM_203447.4(DOCK8):c.685G>C (p.Ala229Pro)	DOCK8 (A229P +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency +1 more	GUncertain significance
Select item 366547	NM_203447.4(DOCK8):c.686C>A (p.Ala229Asp)	DOCK8 (A229D +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency +1 more	GUncertain significance
Select item 1398914	NM_203447.4(DOCK8):c.688C>T (p.Arg230Trp)	DOCK8 (R162W +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency +1 more	GUncertain significance
Select item 137157	NM_203447.4(DOCK8):c.699T>C (p.Asn233=)	DOCK8	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 915000	NM_203447.4(DOCK8):c.701G>A (p.Arg234Lys)	DOCK8 (R234K +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 163173	NM_203447.4(DOCK8):c.709G>A (p.Glu237Lys)	DOCK8 (E237K +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive hyper-IgE syndrome +3 more	GBenign
Select item 570541	NM_203447.4(DOCK8):c.742-15T>G	DOCK8	Single nucleotide variant (intron variant)	Autosomal recessive hyper-IgE syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1019452	NM_203447.4(DOCK8):c.745G>A (p.Asp249Asn)	DOCK8 (D181N +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1337133	NM_203447.4(DOCK8):c.763C>A (p.Pro255Thr)	DOCK8 (P187T +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 578756	NM_203447.4(DOCK8):c.803T>G (p.Ile268Arg)	DOCK8 (I268R +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 647945	NC_000009.11:g.(?_325651)_(464239_?)dup	DOCK8	Duplication	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 2144581	NM_203447.4(DOCK8):c.828G>A (p.Lys276=)	DOCK8	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 817037	NM_203447.4(DOCK8):c.850_851del (p.Leu284fs)	DOCK8 (L216fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1001378	NM_203447.4(DOCK8):c.860G>T (p.Ser287Ile)	DOCK8 (S219I +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 859649	NM_203447.4(DOCK8):c.874G>T (p.Asp292Tyr)	DOCK8 (D224Y +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 798161	NM_203447.4(DOCK8):c.874G>A (p.Asp292Asn)	DOCK8 (D224N +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GLikely benign
Select item 1359766	NM_203447.4(DOCK8):c.893A>G (p.Lys298Arg)	DOCK8 (K230R +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency +1 more	GUncertain significance
Select item 263271	NM_203447.4(DOCK8):c.895-16T>C	DOCK8	Single nucleotide variant (intron variant)	Combined immunodeficiency due to DOCK8 deficiency +3 more	GBenign
Select item 279929	NM_203447.4(DOCK8):c.949C>T (p.Arg317Ter)	DOCK8 (R249* +1 more)	Single nucleotide variant (nonsense)	Combined immunodeficiency due to DOCK8 deficiency +2 more	GPathogenic
Select item 235223	NM_203447.4(DOCK8):c.952G>A (p.Ala318Thr)	DOCK8 (A318T +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency +3 more	GBenign
Select item 912377	NM_203447.4(DOCK8):c.955C>T (p.His319Tyr)	DOCK8 (H251Y +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency +1 more	GUncertain significance
Select item 655375	NM_203447.4(DOCK8):c.971C>A (p.Ala324Asp)	DOCK8 (A324D +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 1355030	NM_203447.4(DOCK8):c.973G>A (p.Ala325Thr)	DOCK8 (A257T +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 520802	NM_203447.4(DOCK8):c.986C>T (p.Ala329Val)	DOCK8 (A329V +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive hyper-IgE syndrome +4 more	GConflicting classifications of pathogenicity
Select item 731975	NM_203447.4(DOCK8):c.987G>A (p.Ala329=)	DOCK8	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to DOCK8 deficiency	GLikely benign
Select item 952983	NM_203447.4(DOCK8):c.992C>A (p.Ser331Tyr)	DOCK8 (S331Y +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 1390341	NM_203447.4(DOCK8):c.998T>C (p.Val333Ala)	DOCK8 (V333A +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance

<< First< Prev

Page of 5