ClinVar for Gene (Select 23512) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3251504	NM_015355.4(SUZ12):c.431T>C (p.Met144Thr)	SUZ12 (M144T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3251134	NM_015355.4(SUZ12):c.1415G>A (p.Ser472Asn)	SUZ12 (S449N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3250500	NM_015355.4(SUZ12):c.196G>A (p.Ala66Thr)	SUZ12 (A66T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3237178	GRCh37/hg19 17q11.2(chr17:29000019-30416429)	ADAP2, ATAD5 +13 more	Copy number loss	Café-au-lait macules with pulmonary stenosis +3 more	GPathogenic
Select item 3236268	NM_015355.4(SUZ12):c.1603C>T (p.Arg535Ter)	SUZ12 (R512* +1 more)	Single nucleotide variant (nonsense)	Imagawa-Matsumoto syndrome	GLikely pathogenic
Select item 3235147	NM_015355.4(SUZ12):c.1522C>T (p.Arg508Cys)	SUZ12 (R485C +1 more)	Single nucleotide variant (missense variant)	Imagawa-Matsumoto syndrome	GUncertain significance
Select item 3172322	NM_015355.4(SUZ12):c.2072G>A (p.Gly691Glu)	SUZ12 (G691E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3172321	NM_015355.4(SUZ12):c.2032G>A (p.Val678Ile)	SUZ12 (V655I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3172320	NM_015355.4(SUZ12):c.143G>A (p.Gly48Glu)	SUZ12 (G48E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3172319	NM_015355.4(SUZ12):c.1372C>T (p.Arg458Cys)	SUZ12 (R435C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3172317	NM_015355.4(SUZ12):c.119A>G (p.Lys40Arg)	SUZ12 (K40R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3067301	NM_015355.4(SUZ12):c.98C>T (p.Ala33Val)	SUZ12 (A33V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3065890	NM_015355.4(SUZ12):c.920G>A (p.Arg307His)	SUZ12 (R284H +1 more)	Single nucleotide variant (missense variant)	Imagawa-Matsumoto syndrome	GUncertain significance
Select item 3063509	GRCh37/hg19 17q11.2(chr17:29305509-31246638)x3	C17orf75, CDK5R1 +16 more	Copy number gain	not specified	GPathogenic
Select item 3063487	GRCh37/hg19 17q11.2(chr17:28277040-30903559)x1	ADAP2, ATAD5 +28 more	Copy number loss	not specified	GPathogenic
Select item 3051375	NM_015355.4(SUZ12):c.1097A>G (p.Asn366Ser)	SUZ12 (N343S +1 more)	Single nucleotide variant (missense variant)	SUZ12-related disorder	GLikely benign
Select item 3027192	NM_015355.4(SUZ12):c.2086C>T (p.Pro696Ser)	SUZ12 (P673S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3027087	NM_015355.4(SUZ12):c.1573A>G (p.Ile525Val)	SUZ12 (I502V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3027034	NM_015355.4(SUZ12):c.1308C>T (p.Asn436=)	SUZ12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3026623	NM_015355.4(SUZ12):c.1423A>G (p.Ile475Val)	SUZ12 (I452V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3026275	NM_015355.4(SUZ12):c.2124A>G (p.Thr708=)	SUZ12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3026219	NM_015355.4(SUZ12):c.1795-5C>T	SUZ12	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3025211	NM_015355.4(SUZ12):c.2177G>A (p.Ser726Asn)	SUZ12 (S703N +1 more)	Single nucleotide variant (missense variant)	SUZ12-related disorder +1 more	GLikely benign
Select item 3024941	NM_015355.4(SUZ12):c.2036C>T (p.Thr679Ile)	SUZ12 (T656I +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2685600	GRCh37/hg19 17q11.2(chr17:28387597-30812008)x1	ADAP2, ATAD5 +26 more	Copy number loss	not provided	GPathogenic
Select item 2671621	Single allele	ADAP2, ATAD5 +13 more	Deletion	not provided	GPathogenic
Select item 2647655	NM_001321350.2(LRRC37B):c.-681C>T	LOC130060672, LRRC37B +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 2647654	NC_000017.11:g.32006701G>A	SUZ12	Single nucleotide variant	not provided	GLikely benign
Select item 2647653	NC_000017.11:g.32006625G>A	SUZ12	Single nucleotide variant	not provided	GBenign
Select item 2647652	NC_000017.11:g.32003295T>G	SUZ12	Single nucleotide variant	not provided	GBenign
Select item 2647651	NC_000017.11:g.32003153C>T	SUZ12	Single nucleotide variant	not provided	GBenign
Select item 2647650	NM_015355.4(SUZ12):c.747G>A (p.Ser249=)	SUZ12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647649	NM_015355.4(SUZ12):c.456-3T>A	SUZ12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2647648	NM_015355.4(SUZ12):c.275-843A>G	SUZ12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2647647	NM_015355.4(SUZ12):c.274+899C>T	SUZ12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2647646	NM_015355.4(SUZ12):c.274+321C>T	SUZ12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2647645	NM_015355.4(SUZ12):c.261C>T (p.Leu87=)	SUZ12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647644	NM_015355.4(SUZ12):c.163TCC[4] (p.Ser59del)	SUZ12 (S59del)	Microsatellite (inframe_deletion)	not provided	GBenign
Select item 2635767	NM_015355.4(SUZ12):c.856C>T (p.Arg286Ter)	SUZ12 (R263* +1 more)	Single nucleotide variant (nonsense)	SUZ12-related disorder	GLikely pathogenic
Select item 2635282	NM_015355.4(SUZ12):c.1947GAA[1] (p.Lys650del)	SUZ12 (K627del +1 more)	Microsatellite (inframe_deletion)	SUZ12-related disorder	GUncertain significance
Select item 2629976	NM_015355.4(SUZ12):c.1594A>G (p.Arg532Gly)	SUZ12 (R509G +1 more)	Single nucleotide variant (missense variant)	SUZ12-related disorder	GUncertain significance
Select item 2615338	NM_015355.4(SUZ12):c.865G>A (p.Glu289Lys)	SUZ12 (E266K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610779	NM_015355.4(SUZ12):c.1072A>G (p.Thr358Ala)	SUZ12 (T358A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610281	NM_015355.4(SUZ12):c.2168A>G (p.Glu723Gly)	SUZ12 (E723G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606833	NM_015355.4(SUZ12):c.1098T>G (p.Asn366Lys)	SUZ12 (N343K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569554	NM_015355.4(SUZ12):c.133A>G (p.Ser45Gly)	SUZ12 (S45G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2569160	NM_015355.4(SUZ12):c.101C>G (p.Ala34Gly)	SUZ12 (A34G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2565332	NM_015355.4(SUZ12):c.110C>T (p.Ser37Leu)	SUZ12 (S37L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556986	NM_015355.4(SUZ12):c.692C>G (p.Ala231Gly)	SUZ12 (A231G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2549425	NM_015355.4(SUZ12):c.170C>T (p.Ser57Phe)	SUZ12 (S57F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525653	NM_015355.4(SUZ12):c.812A>T (p.Asn271Ile)	SUZ12 (N248I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506363	NM_015355.4(SUZ12):c.1049C>T (p.Ser350Phe)	SUZ12 (S327F +1 more)	Single nucleotide variant (missense variant)	Imagawa-Matsumoto syndrome	GLikely pathogenic
Select item 2504886	NM_015355.4(SUZ12):c.1437+3_1437+6del	SUZ12	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 2498263	NM_015355.4(SUZ12):c.1918G>A (p.Val640Ile)	SUZ12 (V617I +1 more)	Single nucleotide variant (missense variant)	Teratoma	GUncertain significance
Select item 2494468	NM_015355.4(SUZ12):c.89C>T (p.Ala30Val)	SUZ12 (A30V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463929	NM_015355.4(SUZ12):c.250G>A (p.Glu84Lys)	SUZ12 (E84K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2443324	NM_015355.4(SUZ12):c.274+5G>A	SUZ12	Single nucleotide variant (intron variant)	Imagawa-Matsumoto syndrome	GUncertain significance
Select item 2443323	NM_015355.4(SUZ12):c.1267C>T (p.Arg423Ter)	SUZ12 (R400* +1 more)	Single nucleotide variant (nonsense)	Imagawa-Matsumoto syndrome	GLikely pathogenic
Select item 2402268	NM_015355.4(SUZ12):c.812A>G (p.Asn271Ser)	SUZ12 (N271S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316466	NM_015355.4(SUZ12):c.728A>G (p.His243Arg)	SUZ12 (H220R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289093	NM_015355.4(SUZ12):c.1585C>T (p.Leu529Phe)	SUZ12 (L506F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284559	NM_015355.4(SUZ12):c.151A>G (p.Ser51Gly)	SUZ12 (S51G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265676	NM_015355.4(SUZ12):c.1223C>G (p.Thr408Arg)	SUZ12 (T408R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2239907	NM_015355.4(SUZ12):c.1794+6T>A	SUZ12	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2231374	NM_015355.4(SUZ12):c.140G>C (p.Gly47Ala)	SUZ12 (G47A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2136121	NM_015355.4(SUZ12):c.1350C>G (p.Cys450Trp)	SUZ12 (C427W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1878922	NM_015355.4(SUZ12):c.16C>G (p.His6Asp)	SUZ12 (H6D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1711436	NM_015355.4(SUZ12):c.274+273G>A	SUZ12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1706958	NM_015355.4(SUZ12):c.917G>C (p.Arg306Thr)	SUZ12 (R283T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1706550	NM_015355.4(SUZ12):c.156C>G (p.Tyr52Ter)	SUZ12 (Y52*)	Single nucleotide variant (nonsense)	not specified	GPathogenic
Select item 1705694	NM_015355.4(SUZ12):c.1132dup (p.Ala378fs)	SUZ12 (A355fs +1 more)	Duplication (frameshift variant)	Imagawa-Matsumoto syndrome	GLikely pathogenic
Select item 1705191	NM_015355.4(SUZ12):c.1039G>A (p.Glu347Lys)	SUZ12 (E324K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1703547	GRCh37/hg19 17q11.2(chr17:28993036-30412788)	ADAP2, ATAD5 +13 more	Copy number loss	Neurofibromatosis, type 1 +1 more	GPathogenic
Select item 1700860	NM_015355.4(SUZ12):c.18C>A (p.His6Gln)	SUZ12 (H6Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1699058	NM_015355.4(SUZ12):c.1874+8A>G	SUZ12	Single nucleotide variant (intron variant)	Neurodevelopmental disorder	GUncertain significance
Select item 1694840	NM_015355.4(SUZ12):c.275-1072del	SUZ12	Deletion (intron variant)	not provided	GLikely benign
Select item 1686240	NM_015355.4(SUZ12):c.386+1G>A	SUZ12	Single nucleotide variant (splice donor variant)	Imagawa-Matsumoto syndrome	GPathogenic
Select item 1685459	NM_015355.4(SUZ12):c.1979T>C (p.Leu660Pro)	SUZ12 (L637P +1 more)	Single nucleotide variant (missense variant)	Imagawa-Matsumoto syndrome	GLikely pathogenic
Select item 1675668	NC_000017.11:g.32006682G>C	SUZ12	Single nucleotide variant	not provided	GBenign
Select item 1343112	NM_015355.4(SUZ12):c.814G>T (p.Glu272Ter)	SUZ12 (E249* +1 more)	Single nucleotide variant (nonsense)	Developmental disorder	GUncertain significance
Select item 1342636	NM_015355.4(SUZ12):c.1938A>C (p.Lys646Asn)	SUZ12 (K623N +1 more)	Single nucleotide variant (missense variant)	Imagawa-Matsumoto syndrome	GUncertain significance
Select item 1342102	NM_015355.4(SUZ12):c.2184_2185del (p.Val730fs)	SUZ12 (V707fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1334606	NM_015355.4(SUZ12):c.1917T>G (p.Phe639Leu)	SUZ12 (F616L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1333578	NM_015355.4(SUZ12):c.1437+1G>T	SUZ12	Single nucleotide variant (splice donor variant)	Imagawa-Matsumoto syndrome	GLikely pathogenic
Select item 1315384	NM_015355.4(SUZ12):c.2006T>C (p.Ile669Thr)	SUZ12 (I646T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1312646	NM_015355.4(SUZ12):c.640C>G (p.Pro214Ala)	SUZ12 (P191A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1312230	NM_015355.4(SUZ12):c.698C>G (p.Ser233Cys)	SUZ12 (S210C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1312210	NM_015355.4(SUZ12):c.1002G>A (p.Trp334Ter)	SUZ12 (W311* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1309586	NM_015355.4(SUZ12):c.1244_1248del (p.Glu415fs)	SUZ12 (E392fs +1 more)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 1309323	NM_015355.4(SUZ12):c.1786del (p.Thr596fs)	SUZ12 (T573fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1308523	NM_015355.4(SUZ12):c.1159C>T (p.Gln387Ter)	SUZ12 (Q364* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1306473	NM_015355.4(SUZ12):c.2056C>T (p.Gln686Ter)	SUZ12 (Q663* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1305112	NM_015355.4(SUZ12):c.1604G>A (p.Arg535Gln)	SUZ12 (R512Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1215336	NM_015355.4(SUZ12):c.919C>T (p.Arg307Cys)	SUZ12 (R284C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1172820	Single allele	ADAP2, ATAD5 +13 more	Deletion	Cerebral palsy	GPathogenic
Select item 1075758	NM_015355.4(SUZ12):c.348_349del (p.Tyr117fs)	SUZ12 (Y117fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1072714	NM_015355.4(SUZ12):c.1891C>T (p.Gln631Ter)	SUZ12 (Q608* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1065437	NM_015355.4(SUZ12):c.1451del (p.Gly484fs)	SUZ12 (G461fs +1 more)	Deletion (frameshift variant)	Imagawa-Matsumoto syndrome +1 more	GLikely pathogenic
Select item 998071	NM_015355.4(SUZ12):c.1150_1151del (p.Leu385fs)	SUZ12 (L362fs +1 more)	Microsatellite (frameshift variant)	Acute megakaryoblastic leukemia in down syndrome +1 more	GPathogenic/Likely pathogenic
Select item 985704	NM_015355.4(SUZ12):c.361C>T (p.Arg121Ter)	SUZ12 (R121*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic

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