ClinVar for MedGen (Select 140771) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366333	NM_002485.5(NBN):c.1533_1534del (p.Asn511fs)	NBN (N429fs +1 more)	Deletion (frameshift variant)	Microcephaly, normal intelligence and immunodeficiency	GPathogenic
Select item 3339744	NC_000008.10:g.(90990552_90992961)_(90996896_?)del	NBN	Deletion	Microcephaly, normal intelligence and immunodeficiency	GPathogenic
Select item 3245502	NC_000008.10:g.(?_90971077)_(90971078_?)insTCTTTC	NBN	Insertion	Microcephaly, normal intelligence and immunodeficiency	GPathogenic
Select item 3245501	NC_000008.10:g.(?_90947810)_(90983528_?)dup	NBN	Duplication	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 3245500	NC_000008.11:g.(?_89980724)_(89984571_?)dup	NBN	Duplication	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 3245499	NC_000008.10:g.(?_90949244)_(90996789_?)dup	NBN	Duplication	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 3245498	NC_000008.10:g.(?_90947810)_(91064125_?)dup	DECR1, NBN	Duplication	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 3245497	NC_000008.10:g.(?_90947810)_(90949323_?)del	NBN	Deletion	Microcephaly, normal intelligence and immunodeficiency	GLikely pathogenic
Select item 3245496	NC_000008.10:g.(?_90947810)_(90955604_?)del	NBN	Deletion	Microcephaly, normal intelligence and immunodeficiency	GLikely pathogenic
Select item 3245495	NC_000008.10:g.(?_90992952)_(90996789_?)del	NBN	Deletion	Microcephaly, normal intelligence and immunodeficiency	GPathogenic
Select item 3245493	NC_000008.10:g.(?_90994930)_(90996789_?)del	NBN	Deletion	Microcephaly, normal intelligence and immunodeficiency	GPathogenic
Select item 3245492	NC_000008.10:g.(?_90970943)_(90971092_?)del	NBN	Deletion	Microcephaly, normal intelligence and immunodeficiency	GPathogenic
Select item 3023532	NM_002485.5(NBN):c.38-10T>G	NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 3018652	NM_002485.5(NBN):c.172-10A>C	NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 3014880	NM_002485.5(NBN):c.472A>G (p.Thr158Ala)	NBN (T158A +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 3014596	NM_002485.5(NBN):c.1992T>A (p.Ile664=)	NBN	Single nucleotide variant (synonymous variant)	Microcephaly, normal intelligence and immunodeficiency +1 more	GLikely benign
Select item 3011122	NM_002485.5(NBN):c.321-12T>C	NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 3009824	NM_002485.5(NBN):c.762A>G (p.Glu254=)	NBN	Single nucleotide variant (synonymous variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 3009714	NM_002485.5(NBN):c.172-15T>G	NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 3009172	NM_002485.5(NBN):c.26G>A (p.Gly9Asp)	NBN (G9D)	Single nucleotide variant (5 prime UTR variant +1 more)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 3003381	NM_002485.5(NBN):c.1643A>G (p.Asn548Ser)	NBN (N466S +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 2999711	NM_002485.5(NBN):c.403C>T (p.Leu135Phe)	NBN (L135F +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency +1 more	GUncertain significance
Select item 2996676	NM_002485.5(NBN):c.1979G>T (p.Arg660Ile)	NBN (R660I +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 2993636	NM_002485.5(NBN):c.1914+13T>A	LOC126860438, NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 2992102	NM_002485.5(NBN):c.174T>C (p.Ser58=)	NBN	Single nucleotide variant (5 prime UTR variant +1 more)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 2988150	NM_002485.5(NBN):c.1398-17T>C	NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 2984515	NM_002485.5(NBN):c.2031T>A (p.Asp677Glu)	NBN (D595E +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
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 2978974	NM_002485.5(NBN):c.1974A>T (p.Glu658Asp)	NBN (E576D +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 2970908	NM_002485.5(NBN):c.1892T>C (p.Leu631Pro)	LOC126860438, NBN (L631P +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 2968752	NM_002485.5(NBN):c.1184T>C (p.Met395Thr)	NBN (M313T +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 2967813	NM_002485.5(NBN):c.1597A>G (p.Lys533Glu)	NBN (K451E +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 2918576	NM_002485.5(NBN):c.702+9_702+13del	NBN	Deletion (intron variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 2910220	NM_002485.5(NBN):c.181G>A (p.Asp61Asn)	NBN (D61N)	Single nucleotide variant (5 prime UTR variant +1 more)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 2910219	NM_002485.5(NBN):c.2018C>A (p.Ser673Tyr)	NBN (S591Y +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 2908262	NM_002485.5(NBN):c.1103A>G (p.Glu368Gly)	NBN (E286G +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 2900758	NM_002485.5(NBN):c.1397+1_1397+3delinsACA	NBN	Indel (splice donor variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely pathogenic
Select item 2896575	NM_002485.5(NBN):c.1435A>C (p.Lys479Gln)	NBN (K397Q +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 2895914	NM_002485.5(NBN):c.896+12T>C	NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 2890940	NM_002485.5(NBN):c.1527T>C (p.Ser509=)	NBN	Single nucleotide variant (synonymous variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 2890529	NM_002485.5(NBN):c.1686A>G (p.Val562=)	NBN	Single nucleotide variant (synonymous variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 2883099	NM_002485.5(NBN):c.1397+19C>T	NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 2880034	NM_002485.5(NBN):c.1914+11T>C	LOC126860438, NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 2878051	NM_002485.5(NBN):c.1845+7A>T	NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 2877180	NM_002485.5(NBN):c.1914+14T>C	LOC126860438, NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 2872834	NM_002485.5(NBN):c.172-11T>C	NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 2870164	NM_002485.5(NBN):c.737G>T (p.Gly246Val)	NBN (G246V +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 2866962	NM_002485.5(NBN):c.636G>A (p.Leu212=)	NBN	Single nucleotide variant (synonymous variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 2866885	NM_002485.5(NBN):c.63C>G (p.Gly21=)	NBN	Single nucleotide variant (5 prime UTR variant +1 more)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 2866032	NM_002485.5(NBN):c.483A>C (p.Thr161=)	NBN	Single nucleotide variant (synonymous variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 2861074	NM_002485.5(NBN):c.584+8A>T	NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 2859890	NM_002485.5(NBN):c.596C>T (p.Pro199Leu)	NBN (P199L +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 2859733	NM_002485.5(NBN):c.2119G>C (p.Asp707His)	NBN (D625H +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 2859532	NM_002485.5(NBN):c.697A>G (p.Lys233Glu)	NBN (K151E +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 2859401	NM_002485.5(NBN):c.1300A>C (p.Thr434Pro)	NBN (T352P +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 2858141	NM_002485.5(NBN):c.102_103delinsAT (p.Ile35Phe)	NBN (I35F)	Indel (5 prime UTR variant +1 more)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 2857554	NM_002485.5(NBN):c.554A>G (p.Glu185Gly)	NBN (E103G +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 2856984	NM_002485.5(NBN):c.395T>C (p.Ile132Thr)	NBN (I132T +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 2856550	NM_002485.5(NBN):c.2007del (p.Arg670fs)	NBN (R670fs +1 more)	Deletion (frameshift variant)	Microcephaly, normal intelligence and immunodeficiency	GPathogenic
Select item 2856013	NM_002485.5(NBN):c.480+18T>A	NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 2855564	NM_002485.5(NBN):c.1125G>C (p.Trp375Cys)	NBN (W375C +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 2855413	NM_002485.5(NBN):c.349T>A (p.Ser117Thr)	NBN (S117T +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 2855405	NM_002485.5(NBN):c.393T>C (p.Ala131=)	NBN	Single nucleotide variant (synonymous variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 2855353	NM_002485.5(NBN):c.2184+12del	NBN	Deletion (intron variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 2854976	NM_002485.5(NBN):c.1845+5G>A	NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 2854950	NM_002485.5(NBN):c.1870C>A (p.Arg624Ser)	LOC126860438, NBN (R542S +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2852320	NM_002485.5(NBN):c.171+8A>G	NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 2851610	NM_002485.5(NBN):c.894A>G (p.Gln298=)	NBN	Single nucleotide variant (synonymous variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 2851602	NM_002485.5(NBN):c.570T>A (p.Pro190=)	NBN	Single nucleotide variant (synonymous variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 2850594	NM_002485.5(NBN):c.1846-7T>C	LOC126860438, NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 2850593	NM_002485.5(NBN):c.2077dup (p.Tyr693fs)	NBN (Y611fs +1 more)	Duplication (frameshift variant)	Microcephaly, normal intelligence and immunodeficiency	GPathogenic
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 2849013	NM_002485.5(NBN):c.702+8T>G	NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 2845508	NM_002485.5(NBN):c.390A>C (p.Gln130His)	NBN (Q130H +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 2845241	NM_002485.5(NBN):c.269del (p.Thr90fs)	NBN (T8fs +1 more)	Deletion (frameshift variant)	Microcephaly, normal intelligence and immunodeficiency	GPathogenic
Select item 2844708	NM_002485.5(NBN):c.51A>G (p.Arg17=)	NBN	Single nucleotide variant (5 prime UTR variant +1 more)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 2843479	NM_002485.5(NBN):c.703-9del	NBN	Deletion (intron variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
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 2842031	NM_002485.5(NBN):c.10C>A (p.Leu4Met)	NBN (L4M)	Single nucleotide variant (5 prime UTR variant +1 more)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 2841469	NM_002485.5(NBN):c.1183A>G (p.Met395Val)	NBN (M395V +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 2841083	NM_002485.5(NBN):c.2040T>C (p.Gly680=)	NBN	Single nucleotide variant (synonymous variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 2840188	NM_002485.5(NBN):c.480+8G>T	NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 2839815	NM_002485.5(NBN):c.92G>T (p.Cys31Phe)	NBN (C31F)	Single nucleotide variant (5 prime UTR variant +1 more)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 2839434	NM_002485.5(NBN):c.391G>C (p.Ala131Pro)	NBN (A131P +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 2838930	NM_002485.5(NBN):c.1851A>G (p.Glu617=)	LOC126860438, NBN	Single nucleotide variant (synonymous variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 2838620	NM_002485.5(NBN):c.703-17T>A	NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
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 2837906	NM_002485.5(NBN):c.1396A>C (p.Arg466=)	NBN	Single nucleotide variant (synonymous variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 2837264	NM_002485.5(NBN):c.876A>G (p.Ser292=)	NBN	Single nucleotide variant (synonymous variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 2836831	NM_002485.5(NBN):c.855T>C (p.Cys285=)	NBN	Single nucleotide variant (synonymous variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 2836275	NM_002485.5(NBN):c.711A>G (p.Lys237=)	NBN	Single nucleotide variant (synonymous variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 2835610	NM_002485.5(NBN):c.2079T>C (p.Tyr693=)	NBN	Single nucleotide variant (synonymous variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 2834041	NM_002485.5(NBN):c.1621G>C (p.Ala541Pro)	NBN (A459P +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 2833877	NM_002485.5(NBN):c.875C>G (p.Ser292Ter)	NBN (S210* +1 more)	Single nucleotide variant (nonsense)	Microcephaly, normal intelligence and immunodeficiency	GPathogenic
Select item 2833395	NM_002485.5(NBN):c.1637G>A (p.Arg546Lys)	NBN (R464K +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 2832853	NM_002485.5(NBN):c.38-15A>C	NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 2832357	NM_002485.5(NBN):c.1846-16T>A	LOC126860438, NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 2831204	NM_002485.5(NBN):c.584+14T>G	NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 2830884	NM_002485.5(NBN):c.292dup (p.Thr98fs)	NBN (T98fs +1 more)	Duplication (frameshift variant)	Microcephaly, normal intelligence and immunodeficiency	GPathogenic
Select item 2829283	NM_002485.5(NBN):c.481-17T>C	NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign

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