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

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

Search results

Items: 1 to 100 of 2743

<< First< Prev

Page of 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 583872	NC_000008.11:g.(?_89921080)_(89984561_?)del	LOC126860438, LOC130000714 +2 more	Deletion	Microcephaly, normal intelligence and immunodeficiency	GPathogenic
Select item 417614	NC_000008.10:g.(?_90945564)_(90971082_?)dup	LOC126860438, NBN	Duplication	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 363905	NM_002485.5(NBN):c.*541G>C	NBN	Single nucleotide variant (3 prime UTR variant)	Microcephaly, normal intelligence and immunodeficiency +1 more	GBenign
Select item 656842	NC_000008.10:g.(?_90947800)_(90971092_?)dup	LOC126860438, NBN	Duplication	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 584293	NC_000008.11:g.(?_89935572)_(89984571_?)del	LOC126860438, LOC130000714 +1 more	Deletion	Microcephaly, normal intelligence and immunodeficiency	GPathogenic
Select item 583845	NC_000008.10:g.(?_90947800)_(90996799_?)dup	LOC126860438, LOC130000714 +1 more	Duplication	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 530786	NC_000008.10:g.(?_90947804)_(90955600_?)dup	NBN	Duplication	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 530784	NC_000008.11:g.(?_89935576)_(89981529_?)del	LOC126860438, NBN	Deletion	Microcephaly, normal intelligence and immunodeficiency	GPathogenic
Select item 461487	NC_000008.10:g.(?_90947804)_(90996795_?)dup	LOC126860438, LOC130000714 +1 more	Duplication	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 461485	NC_000008.11:g.(?_89935576)_(89937081_?)del	NBN	Deletion	Microcephaly, normal intelligence and immunodeficiency	GLikely pathogenic
Select item 216001	NC_000008.11:g.(?_89935581)_(89937075_?)del	NBN	Deletion	Microcephaly, normal intelligence and immunodeficiency	GLikely pathogenic
Select item 2771503	NM_002485.5(NBN):c.2263T>C (p.Ter755Gln)	NBN	Single nucleotide variant (stop lost)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 1957837	NM_002485.5(NBN):c.2260A>G (p.Arg754Gly)	NBN (R754G +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 1314071	NM_002485.5(NBN):c.2260A>C (p.Arg754=)	NBN	Single nucleotide variant (synonymous variant)	Microcephaly, normal intelligence and immunodeficiency +1 more	GConflicting classifications of pathogenicity
Select item 1150284	NM_002485.5(NBN):c.2259A>G (p.Arg753=)	NBN	Single nucleotide variant (synonymous variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 1014298	NM_002485.5(NBN):c.2256_2258del (p.Arg754del)	NBN (R672del +1 more)	Deletion (inframe_deletion)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 565886	NM_002485.5(NBN):c.2258G>A (p.Arg753Lys)	NBN (R753K +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 2850550	NM_002485.5(NBN):c.2256G>A (p.Arg752=)	NBN	Single nucleotide variant (synonymous variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 853227	NM_002485.5(NBN):c.2256del (p.Arg753fs)	NBN (R753fs +1 more)	Deletion (frameshift variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 1788512	NM_002485.5(NBN):c.2255G>C (p.Arg752Thr)	NBN (R670T +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency +1 more	GUncertain significance
Select item 461550	NM_002485.5(NBN):c.2250A>T (p.Leu750Phe)	NBN (L750F +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency +1 more	GUncertain significance
Select item 183886	NM_002485.5(NBN):c.2247T>C (p.Tyr749=)	NBN	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 220260	NM_002485.5(NBN):c.2246A>T (p.Tyr749Phe)	NBN (Y749F +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency +1 more	GUncertain significance
Select item 530781	NM_002485.5(NBN):c.2244T>A (p.Pro748=)	NBN	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1034984	NM_002485.5(NBN):c.2242C>T (p.Pro748Ser)	NBN (P666S +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 962992	NM_002485.5(NBN):c.2240A>T (p.Asn747Ile)	NBN (N665I +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency +1 more	GUncertain significance
Select item 461549	NM_002485.5(NBN):c.2240A>G (p.Asn747Ser)	NBN (N747S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2113242	NM_002485.5(NBN):c.2239A>G (p.Asn747Asp)	NBN (N665D +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 1788222	NM_002485.5(NBN):c.2238del (p.Arg745_Tyr746insTer)	NBN	Deletion (nonsense)	Aplastic anemia +2 more	GConflicting classifications of pathogenicity
Select item 1107177	NM_002485.5(NBN):c.2238C>T (p.Tyr746=)	NBN	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 480044	NM_002485.5(NBN):c.2238C>A (p.Tyr746Ter)	NBN (Y746* +1 more)	Single nucleotide variant (nonsense)	Microcephaly, normal intelligence and immunodeficiency +3 more	GConflicting classifications of pathogenicity
Select item 480053	NM_002485.5(NBN):c.2237A>G (p.Tyr746Cys)	NBN (Y746C +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 492113	NM_002485.5(NBN):c.2235A>G (p.Arg745=)	NBN	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1641544	NM_002485.5(NBN):c.2235-8_2235-5del	NBN	Microsatellite (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1085149	NM_002485.5(NBN):c.2235-5T>G	NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 2789946	NM_002485.5(NBN):c.2235-6T>C	NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 416883	NM_002485.5(NBN):c.2235-8C>T	NBN	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 761344	NM_002485.5(NBN):c.2235-9T>C	NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 1978230	NM_002485.5(NBN):c.2235-11T>C	NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 2726947	NM_002485.5(NBN):c.2235-12C>A	NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 2198195	NM_002485.5(NBN):c.2235-12C>G	NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 552567	NM_002485.5(NBN):c.2235-12C>T	NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 2784901	NM_002485.5(NBN):c.2235-13del	NBN	Deletion (intron variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 1573369	NM_002485.5(NBN):c.2235-16A>G	NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 492112	NM_002485.5(NBN):c.2235-16A>C	NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 2695112	NM_002485.5(NBN):c.2235-18C>G	NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 182710	NM_002485.5(NBN):c.2235-18C>T	NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency +2 more	GBenign/Likely benign
Select item 392290	NM_002485.5(NBN):c.2235-19C>T	NBN	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 2052402	NM_002485.5(NBN):c.2235-20C>T	NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 393075	NM_002485.5(NBN):c.2234+17C>T	NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency +1 more	GLikely benign
Select item 927444	NM_002485.5(NBN):c.2234+16C>A	NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 560817	NM_002485.5(NBN):c.2234+16C>T	NBN	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 919108	NM_002485.5(NBN):c.2234+14C>G	NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 380129	NM_002485.5(NBN):c.2234+14C>T	NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency +1 more	GLikely benign
Select item 1581195	NM_002485.5(NBN):c.2234+13T>C	NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 2984504	NM_002485.5(NBN):c.2234+12T>G	NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 390706	NM_002485.5(NBN):c.2234+12T>C	NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency +1 more	GLikely benign
Select item 1658745	NM_002485.5(NBN):c.2234+9T>C	NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 439224	NM_002485.5(NBN):c.2234+9T>G	NBN	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2759778	NM_002485.5(NBN):c.2234+6G>C	NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 652659	NM_002485.5(NBN):c.2234+5A>G	NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 643140	NM_002485.5(NBN):c.2234+5A>C	NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 570009	NM_002485.5(NBN):c.2226_2234+4del	NBN	Deletion (splice donor variant)	Microcephaly, normal intelligence and immunodeficiency +1 more	GLikely pathogenic
Select item 185026	NM_002485.5(NBN):c.2234+2T>G	NBN	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely pathogenic
Select item 856631	NM_002485.5(NBN):c.2234+1G>A	NBN	Single nucleotide variant (splice donor variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely pathogenic
Select item 820948	NM_002485.5(NBN):c.2234+1G>T	NBN	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely pathogenic
Select item 1788147	NM_002485.5(NBN):c.2232T>C (p.Phe744=)	NBN	Single nucleotide variant (synonymous variant)	Microcephaly, normal intelligence and immunodeficiency +1 more	GLikely benign
Select item 461548	NM_002485.5(NBN):c.2232del (p.Phe744fs)	NBN (F744fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GUncertain significance
Select item 2818124	NM_002485.5(NBN):c.2231T>G (p.Phe744Cys)	NBN (F662C +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 2009185	NM_002485.5(NBN):c.2228T>G (p.Leu743Arg)	NBN (L661R +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 232093	NM_002485.5(NBN):c.2227_2228del (p.Leu743fs)	NBN (L661fs +1 more)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1414806	NM_002485.5(NBN):c.2227C>T (p.Leu743Phe)	NBN (L661F +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 1370386	NM_002485.5(NBN):c.2227C>A (p.Leu743Ile)	NBN (L661I +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 1485442	NM_002485.5(NBN):c.2221GAT[1] (p.Asp742del)	NBN (D660del +1 more)	Microsatellite (inframe_deletion)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 461547	NM_002485.5(NBN):c.2226T>G (p.Asp742Glu)	NBN (D742E +1 more)	Single nucleotide variant (missense variant)	Aplastic anemia +2 more	GUncertain significance
Select item 230832	NM_002485.5(NBN):c.2226T>A (p.Asp742Glu)	NBN (D742E +1 more)	Single nucleotide variant (missense variant)	Aplastic anemia +4 more	GUncertain significance
Select item 1787976	NM_002485.5(NBN):c.2224G>A (p.Asp742Asn)	NBN (D660N +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency +1 more	GUncertain significance
Select item 579083	NM_002485.5(NBN):c.2224G>T (p.Asp742Tyr)	NBN (D742Y +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency +2 more	GUncertain significance
Select item 2842361	NM_002485.5(NBN):c.2222A>T (p.Asp741Val)	NBN (D659V +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 655073	NM_002485.5(NBN):c.2221G>A (p.Asp741Asn)	NBN (D659N +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 136043	NM_002485.5(NBN):c.2220T>C (p.Ala740=)	NBN	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1479152	NM_002485.5(NBN):c.2219C>A (p.Ala740Asp)	NBN (A658D +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 2820864	NM_002485.5(NBN):c.2215_2217del (p.Leu739del)	NBN (L739del +1 more)	Deletion (inframe_deletion)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 391097	NM_002485.5(NBN):c.2217T>C (p.Leu739=)	NBN	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 1171798	NM_002485.5(NBN):c.2216T>C (p.Leu739Pro)	NBN (L657P +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 1011716	NM_002485.5(NBN):c.2215_2216del (p.Leu739fs)	NBN (L657fs +1 more)	Microsatellite (frameshift variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 182730	NM_002485.5(NBN):c.2215C>G (p.Leu739Val)	NBN (L739V +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 2838527	NM_002485.5(NBN):c.2214T>A (p.Ser738=)	NBN	Single nucleotide variant (synonymous variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 2807947	NM_002485.5(NBN):c.2214T>C (p.Ser738=)	NBN	Single nucleotide variant (synonymous variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 231330	NM_002485.5(NBN):c.2213C>T (p.Ser738Phe)	NBN (S738F +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1602510	NM_002485.5(NBN):c.2211G>A (p.Glu737=)	NBN	Single nucleotide variant (synonymous variant)	Microcephaly, normal intelligence and immunodeficiency +1 more	GLikely benign
Select item 422616	NM_002485.5(NBN):c.2210_2211del (p.Glu737fs)	NBN (E737fs +1 more)	Microsatellite (frameshift variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 231721	NM_002485.5(NBN):c.2211G>T (p.Glu737Asp)	NBN (E737D +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency +1 more	GUncertain significance
Select item 550990	NM_002485.5(NBN):c.2205AGA[1] (p.Glu737del)	NBN (E737del +1 more)	Microsatellite (inframe_deletion)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 461546	NM_002485.5(NBN):c.2210A>T (p.Glu737Val)	NBN (E737V +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency +2 more	GUncertain significance
Select item 1503796	NM_002485.5(NBN):c.2204_2208del (p.Lys735fs)	NBN (K735fs +1 more)	Deletion (frameshift variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 925816	NM_002485.5(NBN):c.2206del (p.Glu736fs)	NBN (E654fs +1 more)	Deletion (frameshift variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 919575	NM_002485.5(NBN):c.2206G>C (p.Glu736Gln)	NBN (E654Q +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency +1 more	GUncertain significance
Select item 550305	NM_002485.5(NBN):c.2206G>T (p.Glu736Ter)	NBN (E736* +1 more)	Single nucleotide variant (nonsense)	Microcephaly, normal intelligence and immunodeficiency +1 more	GUncertain significance
Select item 136042	NM_002485.5(NBN):c.2202A>G (p.Ala734=)	NBN	Single nucleotide variant (synonymous variant)	Microcephaly, normal intelligence and immunodeficiency +3 more	GBenign/Likely benign

<< First< Prev

Page of 28