ClinVar for MedGen (Select 7317) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 142

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3024332	NM_002074.5(GNB1):c.814G>A (p.Gly272Arg)	GNB1 (G172R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 42 +2 more	GLikely pathogenic
Select item 2637935	NM_016734.3(PAX5):c.963del (p.Ala322fs)	PAX5 (A214fs +2 more)	Deletion (frameshift variant +2 more)	Acute lymphoid leukemia	GLikely pathogenic
Select item 2580275	NM_016734.3(PAX5):c.263dup (p.Val90fs)	PAX5 (V90fs)	Duplication (frameshift variant +3 more)	Acute lymphoid leukemia	GLikely pathogenic
Select item 2580274	NM_016734.3(PAX5):c.963dup (p.Ala322fs)	PAX5 (A214fs +2 more)	Duplication (frameshift variant +2 more)	Acute lymphoid leukemia	GLikely pathogenic
Select item 2580273	NM_016734.3(PAX5):c.134_147del (p.Ala45fs)	PAX5 (A45fs)	Deletion (frameshift variant +2 more)	Acute lymphoid leukemia	GLikely pathogenic
Select item 2580272	NM_016734.3(PAX5):c.967G>T (p.Gly323Ter)	PAX5 (G215* +2 more)	Single nucleotide variant (nonsense +2 more)	Acute lymphoid leukemia	GLikely pathogenic
Select item 2580271	NM_016734.3(PAX5):c.388C>A (p.Pro130Thr)	PAX5 (P130T +1 more)	Single nucleotide variant (missense variant +2 more)	Acute lymphoid leukemia	GLikely pathogenic
Select item 2580270	NM_016734.3(PAX5):c.197G>A (p.Ser66Asn)	PAX5 (S66N)	Single nucleotide variant (missense variant +2 more)	Acute lymphoid leukemia	GUncertain significance
Select item 2580269	NM_182918.4(ERG):c.571_572insGGA (p.His191delinsArgAsn)	ERG	Insertion (inframe_indel)	Acute lymphoid leukemia	GUncertain significance
Select item 2580268	NM_182918.4(ERG):c.1088A>G (p.Asp363Gly)	ERG (D247G +5 more)	Single nucleotide variant (missense variant +1 more)	Acute lymphoid leukemia	GUncertain significance
Select item 2580267	NM_182918.4(ERG):c.1087G>A (p.Asp363Asn)	ERG (D247N +5 more)	Single nucleotide variant (missense variant +1 more)	Acute lymphoid leukemia	GUncertain significance
Select item 2580266	NM_182918.4(ERG):c.1102G>A (p.Ala368Thr)	ERG (A252T +5 more)	Single nucleotide variant (missense variant +1 more)	Acute lymphoid leukemia	GUncertain significance
Select item 2580265	NM_182918.4(ERG):c.657G>A (p.Met219Ile)	ERG (M127I +2 more)	Single nucleotide variant (missense variant)	Acute lymphoid leukemia	GUncertain significance
Select item 2580264	NM_016734.3(PAX5):c.1073G>A (p.Trp358Ter)	PAX5 (G281R +5 more)	Single nucleotide variant (nonsense +3 more)	Acute lymphoid leukemia	GLikely pathogenic
Select item 2580263	NM_004936.4(CDKN2B):c.131A>G (p.Asn44Ser)	CDKN2B, CDKN2B-AS1 +1 more (N44S)	Single nucleotide variant (missense variant)	Acute lymphoid leukemia	GUncertain significance
Select item 2580262	NM_000077.5(CDKN2A):c.174_185delinsGG (p.Val59fs)	CDKN2A (S73fs +2 more)	Indel (frameshift variant +1 more)	Acute lymphoid leukemia	GLikely pathogenic
Select item 2580261	NM_000077.5(CDKN2A):c.151-6_151delinsC	CDKN2A	Indel (splice acceptor variant)	Acute lymphoid leukemia	GLikely pathogenic
Select item 2580260	NM_006060.6(IKZF1):c.1531C>T (p.Arg511Ter)	IKZF1 (R281* +11 more)	Single nucleotide variant (nonsense)	Acute lymphoid leukemia	GUncertain significance
Select item 2580259	NM_006060.6(IKZF1):c.336_337insGA (p.Pro113fs)	IKZF1 (P113fs +1 more)	Insertion (frameshift variant +1 more)	Acute lymphoid leukemia	GLikely pathogenic
Select item 2580258	NM_006060.6(IKZF1):c.450C>A (p.Cys150Ter)	IKZF1 (C150* +2 more)	Single nucleotide variant (nonsense +1 more)	Acute lymphoid leukemia	GLikely pathogenic
Select item 2580257	NM_016734.3(PAX5):c.46+1G>A	PAX5	Single nucleotide variant (splice donor variant)	Acute lymphoid leukemia	GLikely pathogenic
Select item 2580256	NM_006060.6(IKZF1):c.436_438delinsGGGCTCCCTAA (p.Gln146fs)	IKZF1 (Q146fs +2 more)	Indel (intron variant +1 more)	Acute lymphoid leukemia	GLikely pathogenic
Select item 2580255	NM_006060.6(IKZF1):c.271A>T (p.Lys91Ter)	IKZF1 (K111* +1 more)	Single nucleotide variant (nonsense +1 more)	Acute lymphoid leukemia	GLikely pathogenic
Select item 2580254	NM_006060.6(IKZF1):c.475A>T (p.Asn159Tyr)	IKZF1 (N159Y +2 more)	Single nucleotide variant (missense variant +1 more)	Acute lymphoid leukemia	GLikely pathogenic
Select item 2580253	NM_016734.3(PAX5):c.583_584insCGGGGGAGCAA (p.Asn195fs)	LOC105376032, PAX5 (N129fs +2 more)	Insertion (frameshift variant +2 more)	Acute lymphoid leukemia	GLikely pathogenic
Select item 2580252	NM_016734.3(PAX5):c.613G>T (p.Glu205Ter)	PAX5 (E139* +3 more)	Single nucleotide variant (nonsense +1 more)	Acute lymphoid leukemia	GLikely pathogenic
Select item 2580251	NM_016734.3(PAX5):c.1074del (p.Ser357_Trp358insTer)	PAX5 (G281fs)	Deletion (nonsense +3 more)	Acute lymphoid leukemia	GLikely pathogenic
Select item 2580250	NM_001280548.2(PAX5):c.1013-6288_1013-6274del	PAX5	Deletion (intron variant)	Acute lymphoid leukemia	GUncertain significance
Select item 2580249	NM_016734.3(PAX5):c.401C>G (p.Ser134Cys)	PAX5 (S134C +1 more)	Single nucleotide variant (missense variant +2 more)	Acute lymphoid leukemia	GLikely pathogenic
Select item 2580248	NM_016734.3(PAX5):c.77T>G (p.Val26Gly)	PAX5 (V26G)	Single nucleotide variant (missense variant +2 more)	Acute lymphoid leukemia	GLikely pathogenic
Select item 2577885	NM_006060.6(IKZF1):c.161-8275C>T	IKZF1 (A138V)	Single nucleotide variant (missense variant +1 more)	Acute lymphoid leukemia +1 more	GConflicting classifications of pathogenicity
Select item 2503513	NM_006060.6(IKZF1):c.161-8401C>T	IKZF1 (T96M)	Single nucleotide variant (missense variant +1 more)	Acute lymphoid leukemia	GUncertain significance
Select item 1977663	NM_006060.6(IKZF1):c.26T>C (p.Met9Thr)	IKZF1 (M9T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1710961	NM_006060.6(IKZF1):c.1178G>C (p.Ser393Thr)	IKZF1 (S163T +11 more)	Single nucleotide variant (missense variant)	Acute lymphoid leukemia	GUncertain significance
Select item 1710943	NM_006060.6(IKZF1):c.1405G>C (p.Val469Leu)	IKZF1 (V239L +11 more)	Single nucleotide variant (missense variant)	Acute lymphoid leukemia	GUncertain significance
Select item 1691526	NM_006060.6(IKZF1):c.398T>C (p.Met133Thr)	IKZF1 (M133T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1562666	NM_002074.5(GNB1):c.402C>T (p.Arg134=)	GNB1	Single nucleotide variant (synonymous variant)	Acute lymphoid leukemia +3 more	GLikely benign
Select item 1450161	NM_002485.5(NBN):c.857A>G (p.Gln286Arg)	NBN (Q286R +1 more)	Single nucleotide variant (missense variant)	Aplastic anemia +3 more	GUncertain significance
Select item 1395937	NM_002485.5(NBN):c.135T>A (p.His45Gln)	NBN (H45Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Microcephaly, normal intelligence and immunodeficiency +2 more	GUncertain significance
Select item 1342126	NM_006060.6(IKZF1):c.247C>T (p.Arg83Ter)	IKZF1 (R83*)	Single nucleotide variant (nonsense +1 more)	Acute lymphoid leukemia +1 more	GPathogenic
Select item 1332648	NM_002485.5(NBN):c.697A>C (p.Lys233Gln)	NBN (K151Q +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency +2 more	GUncertain significance
Select item 1327578	NM_006060.6(IKZF1):c.1034G>A (p.Ser345Asn)	IKZF1 (S115N +10 more)	Single nucleotide variant (missense variant)	Acute lymphoid leukemia	GUncertain significance
Select item 1320280	NM_006060.6(IKZF1):c.1047G>C (p.Gln349His)	IKZF1 (Q119H +10 more)	Single nucleotide variant (missense variant)	Pancytopenia due to IKZF1 mutations +1 more	GUncertain significance
Select item 1306534	NM_002485.5(NBN):c.1783A>G (p.Met595Val)	NBN (M513V +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1285540	NM_006060.6(IKZF1):c.530T>C (p.Leu177Pro)	IKZF1 (L177P +1 more)	Single nucleotide variant (missense variant +1 more)	Acute lymphoid leukemia +1 more	GLikely pathogenic
Select item 1073756	NM_002485.5(NBN):c.1106C>G (p.Ser369Ter)	NBN (S287* +1 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 780633	NM_004327.4(BCR):c.606C>T (p.Ser202=)	BCR	Single nucleotide variant (synonymous variant)	Acute lymphoid leukemia +2 more	GBenign/Likely benign
Select item 775489	NM_002074.5(GNB1):c.462C>T (p.Asp154=)	GNB1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 652105	NM_002485.5(NBN):c.76G>T (p.Val26Phe)	NBN (V26F)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 630217	NM_002485.5(NBN):c.1457C>T (p.Ser486Phe)	NBN (S486F +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 626065	NM_004327.4(BCR):c.1149C>T (p.Pro383=)	BCR	Single nucleotide variant (synonymous variant)	Chronic myelogenous leukemia, BCR-ABL1 positive +1 more	GUncertain significance
Select item 625984	NM_002485.5(NBN):c.390A>G (p.Gln130=)	NBN	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 625895	NM_004327.4(BCR):c.685C>T (p.Pro229Ser)	BCR (P229S)	Single nucleotide variant (missense variant)	Chronic myelogenous leukemia, BCR-ABL1 positive +1 more	GUncertain significance
Select item 625894	NM_004327.4(BCR):c.2356G>A (p.Ala786Thr)	BCR (A786T)	Single nucleotide variant (missense variant)	Chronic myelogenous leukemia, BCR-ABL1 positive +1 more	GUncertain significance
Select item 624590	NM_016734.3(PAX5):c.239C>G (p.Pro80Arg)	PAX5	Single nucleotide variant (missense variant +3 more)	Acute lymphoid leukemia	GLikely pathogenic
Select item 587563	NM_016734.3(PAX5):c.435G>C (p.Gln145His)	LOC105376032, PAX5 (Q145H +2 more)	Single nucleotide variant (missense variant +1 more)	Acute lymphoid leukemia	GUncertain significance
Select item 568013	NM_002485.5(NBN):c.976C>G (p.Gln326Glu)	NBN (Q326E +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 530760	NM_002485.5(NBN):c.115C>A (p.Gln39Lys)	NBN (Q39K)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 492079	NM_002485.5(NBN):c.1124+19C>T	NBN	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 490056	NM_002485.5(NBN):c.37+11A>G	NBN	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +5 more	GBenign/Likely benign
Select item 485924	NM_002485.5(NBN):c.431C>T (p.Thr144Ile)	NBN (T144I +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency +3 more	GUncertain significance
Select item 485920	NM_002485.5(NBN):c.1279C>A (p.Pro427Thr)	NBN (P427T +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 483999	NM_002485.5(NBN):c.1648_1651del (p.Lys550fs)	NBN (K468fs +1 more)	Deletion (frameshift variant)	Aplastic anemia +4 more	GPathogenic/Likely pathogenic
Select item 481871	NM_002485.5(NBN):c.591_603delinsTTG (p.Pro198fs)	NBN (P116fs +1 more)	Indel (frameshift variant)	Microcephaly, normal intelligence and immunodeficiency +4 more	GPathogenic/Likely pathogenic
Select item 480049	NM_002485.5(NBN):c.515T>C (p.Val172Ala)	NBN (V172A +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency +3 more	GUncertain significance
Select item 463491	NM_000077.5(CDKN2A):c.235A>C (p.Thr79Pro)	CDKN2A (H93P +2 more)	Single nucleotide variant (missense variant +1 more)	Familial melanoma +2 more	GUncertain significance
Select item 461578	NM_002485.5(NBN):c.727G>C (p.Val243Leu)	NBN (V243L +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency +3 more	GUncertain significance
Select item 461570	NM_002485.5(NBN):c.503G>A (p.Gly168Glu)	NBN (G168E +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 461493	NM_002485.5(NBN):c.11T>G (p.Leu4Arg)	NBN (L4R)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 451148	NM_002485.5(NBN):c.481-2A>T	NBN	Single nucleotide variant (splice acceptor variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 424713	NM_002485.4(NBN):c.[1030C>T];[842T>G]			Microcephaly, normal intelligence and immunodeficiency	GPathogenic
Select item 420188	NM_002485.5(NBN):c.1060C>T (p.Pro354Ser)	NBN (P354S +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency +3 more	GUncertain significance
Select item 416890	NM_002485.5(NBN):c.481-4G>A	NBN	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 416885	NM_002485.5(NBN):c.540C>T (p.Phe180=)	NBN	Single nucleotide variant (synonymous variant)	Aplastic anemia +3 more	GLikely benign
Select item 411789	NM_002485.5(NBN):c.1754A>G (p.Glu585Gly)	NBN (E585G +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency +5 more	GConflicting classifications of pathogenicity
Select item 411756	NM_002485.5(NBN):c.1397+1del	NBN	Deletion (splice donor variant)	Aplastic anemia +4 more	GPathogenic
Select item 378236	NM_002485.5(NBN):c.995-17A>G	NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency +3 more	GBenign/Likely benign
Select item 371121	NM_002485.5(NBN):c.156_157del (p.Ser53fs)	NBN	Deletion (5 prime UTR variant +1 more)	Hereditary breast ovarian cancer syndrome +6 more	GPathogenic/Likely pathogenic
Select item 370898	NM_002485.5(NBN):c.317dup (p.Arg107fs)	NBN (R107fs +1 more)	Duplication (frameshift variant)	Microcephaly, normal intelligence and immunodeficiency +2 more	GPathogenic/Likely pathogenic
Select item 370213	NM_002485.5(NBN):c.265C>T (p.Arg89Ter)	NBN (R89* +1 more)	Single nucleotide variant (nonsense)	Acute lymphoid leukemia +4 more	GPathogenic/Likely pathogenic
Select item 258770	NM_002485.5(NBN):c.703-18G>A	NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency +4 more	GBenign
Select item 258769	NM_002485.5(NBN):c.2071-30A>T	NBN	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +4 more	GBenign
Select item 258768	NM_002485.5(NBN):c.1915-7A>G	NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency +4 more	GBenign
Select item 239210	NM_002485.5(NBN):c.929T>C (p.Ile310Thr)	NBN (I310T +1 more)	Single nucleotide variant (missense variant)	Aplastic anemia +3 more	GUncertain significance
Select item 231708	NM_002485.5(NBN):c.361G>C (p.Asp121His)	NBN (D121H +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency +3 more	GUncertain significance
Select item 224715	NM_002074.5(GNB1):c.239T>A (p.Ile80Asn)	GNB1 (I80N)	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability, autosomal dominant 42 +2 more	GPathogenic
Select item 224711	NM_002074.5(GNB1):c.227A>G (p.Asp76Gly)	GNB1 (D76G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 219644	NM_002485.5(NBN):c.340G>T (p.Val114Phe)	NBN (V114F +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 219533	NM_002485.5(NBN):c.1747C>T (p.Gln583Ter)	NBN (Q583* +1 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic/Likely pathogenic
Select item 219440	NM_002485.5(NBN):c.897-2A>T	NBN	Single nucleotide variant (splice acceptor variant)	not provided +5 more	GLikely pathogenic
Select item 216563	NM_002485.5(NBN):c.1247T>C (p.Met416Thr)	NBN (M416T +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency +5 more	GUncertain significance
Select item 216086	NM_002485.5(NBN):c.211_212insGA (p.Asn71fs)	NBN (N71fs)	Insertion (5 prime UTR variant +1 more)	Microcephaly, normal intelligence and immunodeficiency +3 more	GPathogenic/Likely pathogenic
Select item 199080	NM_002485.5(NBN):c.1124+18C>T	NBN	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 190241	NM_001987.5(ETV6):c.1046T>C (p.Leu349Pro)	ETV6, LOC126861452 (L349P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 190240	NM_001413917.1(ETV6):c.1010-5011_1010-5007del	ETV6	Microsatellite (intron variant)	Inborn genetic diseases +1 more	GPathogenic
Select item 190229	NM_002485.5(NBN):c.1030C>T (p.Gln344Ter)	NBN (Q344* +1 more)	Single nucleotide variant (nonsense)	Microcephaly, normal intelligence and immunodeficiency +4 more	GPathogenic/Likely pathogenic
Select item 187236	NM_002485.5(NBN):c.260T>C (p.Phe87Ser)	NBN (F87S +1 more)	Single nucleotide variant (missense variant)	Aplastic anemia +3 more	GUncertain significance
Select item 186736	NM_002485.5(NBN):c.1483_1484delinsA (p.Pro495fs)	NBN (P413fs +1 more)	Indel (frameshift variant)	Aplastic anemia +4 more	GPathogenic/Likely pathogenic
Select item 186350	NM_002485.5(NBN):c.683T>G (p.Ile228Arg)	NBN (I228R +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency +5 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

<< First< Prev

Page of 2