17101[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154960	GRCh38/hg38 17q11.2(chr17:28947825-32490020)x1	ABHD15, ADAP2 +202 more	Copy number loss	See cases	GPathogenic
Select item 153736	GRCh38/hg38 17q11.2(chr17:30625268-32059496)x1	ADAP2, ATAD5 +73 more	Copy number loss	See cases	GPathogenic
Select item 58136	GRCh38/hg38 17q11.2(chr17:30630734-32088380)x3	ADAP2, ATAD5 +74 more	Copy number gain	See cases	GPathogenic
Select item 153222	GRCh38/hg38 17q11.2(chr17:30666018-32085769)x1	ADAP2, ATAD5 +72 more	Copy number loss	See cases	GPathogenic
Select item 58139	GRCh38/hg38 17q11.2(chr17:30667972-32023858)x3	ADAP2, ATAD5 +69 more	Copy number gain	See cases	GPathogenic
Select item 60460	GRCh38/hg38 17q11.2(chr17:30672816-31999939)x1	ADAP2, ATAD5 +65 more	Copy number loss	See cases	GPathogenic
Select item 153915	GRCh38/hg38 17q11.2(chr17:30677603-32071701)x3	ADAP2, ATAD5 +70 more	Copy number gain	See cases	GUncertain significance
Select item 155211	GRCh38/hg38 17q11.2(chr17:30678153-32073866)x1	ADAP2, ATAD5 +70 more	Copy number loss	See cases	GPathogenic
Select item 151510	GRCh38/hg38 17q11.2(chr17:30684919-32021402)x1	ADAP2, ATAD5 +68 more	Copy number loss	See cases	GPathogenic
Select item 150276	GRCh38/hg38 17q11.2(chr17:30706845-31999933)x1	ADAP2, ATAD5 +65 more	Copy number loss	See cases	GPathogenic
Select item 60461	GRCh38/hg38 17q11.2(chr17:30706863-31994624)x1	ADAP2, ATAD5 +65 more	Copy number loss	See cases	GPathogenic
Select item 160878	GRCh38/hg38 17q11.2(chr17:30706864-31999939)x1	ADAP2, ATAD5 +65 more	Copy number loss	See cases	GPathogenic
Select item 57031	GRCh38/hg38 17q11.2(chr17:30706864-32099761)x3	ADAP2, ATAD5 +72 more	Copy number gain	See cases	GPathogenic
Select item 34989	GRCh38/hg38 17q11.2(chr17:30706864-31999939)x3	ADAP2, ATAD5 +65 more	Copy number gain	See cases	GUncertain significance
Select item 60462	GRCh38/hg38 17q11.2(chr17:30767194-31937486)x1	ADAP2, ATAD5 +62 more	Copy number loss	See cases	GPathogenic
Select item 148639	GRCh38/hg38 17q11.2(chr17:31441351-32005206)x1	COPRS, LOC108783653 +26 more	Copy number loss	See cases	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 1700860	NM_015355.4(SUZ12):c.18C>A (p.His6Gln)	SUZ12 (H6Q)	Single nucleotide variant (missense variant)	not provided	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 3067301	NM_015355.4(SUZ12):c.98C>T (p.Ala33Val)	SUZ12 (A33V)	Single nucleotide variant (missense variant)	not provided	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 2569554	NM_015355.4(SUZ12):c.133A>G (p.Ser45Gly)	SUZ12 (S45G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 2284559	NM_015355.4(SUZ12):c.151A>G (p.Ser51Gly)	SUZ12 (S51G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2647644	NM_015355.4(SUZ12):c.163TCC[4] (p.Ser59del)	SUZ12 (S59del)	Microsatellite (inframe_deletion)	not provided	GBenign
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 781276	NM_015355.4(SUZ12):c.192G>T (p.Ala64=)	SUZ12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 781857	NM_015355.4(SUZ12):c.211G>A (p.Val71Met)	SUZ12 (V71M)	Single nucleotide variant (missense variant)	not provided	GBenign
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 2647645	NM_015355.4(SUZ12):c.261C>T (p.Leu87=)	SUZ12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2443324	NM_015355.4(SUZ12):c.274+5G>A	SUZ12	Single nucleotide variant (intron variant)	Imagawa-Matsumoto syndrome	GUncertain significance
Select item 771495	NM_015355.4(SUZ12):c.274+8T>C	SUZ12	Single nucleotide variant (intron variant)	Imagawa-Matsumoto syndrome +1 more	GBenign/Likely benign
Select item 1711436	NM_015355.4(SUZ12):c.274+273G>A	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 2647647	NM_015355.4(SUZ12):c.274+899C>T	SUZ12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1694840	NM_015355.4(SUZ12):c.275-1072del	SUZ12	Deletion (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 631550	NM_015355.4(SUZ12):c.275-5C>G	SUZ12	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 631552	NM_015355.4(SUZ12):c.348_351del (p.Tyr117fs)	SUZ12 (Y117fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 1075758	NM_015355.4(SUZ12):c.348_349del (p.Tyr117fs)	SUZ12 (Y117fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 985704	NM_015355.4(SUZ12):c.361C>T (p.Arg121Ter)	SUZ12 (R121*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 1686240	NM_015355.4(SUZ12):c.386+1G>A	SUZ12	Single nucleotide variant (splice donor variant)	Imagawa-Matsumoto syndrome	GPathogenic
Select item 2647649	NM_015355.4(SUZ12):c.456-3T>A	SUZ12	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 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 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 2647650	NM_015355.4(SUZ12):c.747G>A (p.Ser249=)	SUZ12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 1343112	NM_015355.4(SUZ12):c.814G>T (p.Glu272Ter)	SUZ12 (E249* +1 more)	Single nucleotide variant (nonsense)	Developmental disorder	GUncertain significance
Select item 812716	NM_015355.4(SUZ12):c.844_845del (p.Ala282fs)	SUZ12 (A259fs +1 more)	Deletion (frameshift variant)	Imagawa-Matsumoto syndrome	GPathogenic
Select item 2635767	NM_015355.4(SUZ12):c.856C>T (p.Arg286Ter)	SUZ12 (R263* +1 more)	Single nucleotide variant (nonsense)	SUZ12-related condition	GLikely pathogenic
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 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 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 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 1312210	NM_015355.4(SUZ12):c.1002G>A (p.Trp334Ter)	SUZ12 (W311* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 745696	NM_015355.4(SUZ12):c.1038C>T (p.Phe346=)	SUZ12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 3051375	NM_015355.4(SUZ12):c.1097A>G (p.Asn366Ser)	SUZ12 (N343S +1 more)	Single nucleotide variant (missense variant)	SUZ12-related condition	GLikely benign
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 745677	NM_015355.4(SUZ12):c.1110G>A (p.Thr370=)	SUZ12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 1308523	NM_015355.4(SUZ12):c.1159C>T (p.Gln387Ter)	SUZ12 (Q364* +1 more)	Single nucleotide variant (nonsense)	not provided	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 787450	NM_015355.4(SUZ12):c.1233A>C (p.Gln411His)	SUZ12 (Q411H +1 more)	Single nucleotide variant (missense variant)	SUZ12-related condition +1 more	GLikely benign
Select item 977393	NM_015355.4(SUZ12):c.1234A>G (p.Thr412Ala)	SUZ12 (T389A +1 more)	Single nucleotide variant (missense variant)	Global developmental delay	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 785566	NM_015355.4(SUZ12):c.1266C>T (p.Asn422=)	SUZ12	Single nucleotide variant (synonymous variant)	SUZ12-related condition +1 more	GBenign
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 3027034	NM_015355.4(SUZ12):c.1308C>T (p.Asn436=)	SUZ12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 750241	NM_015355.4(SUZ12):c.1326T>G (p.Thr442=)	SUZ12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 743194	NM_015355.4(SUZ12):c.1410C>T (p.Cys470=)	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 2504886	NM_015355.4(SUZ12):c.1437+3_1437+6del	SUZ12	Deletion (splice donor 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 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 733749	NM_015355.4(SUZ12):c.1485T>C (p.Tyr495=)	SUZ12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 916088	NM_015355.4(SUZ12):c.1561_1562del (p.Lys521fs)	SUZ12 (K498fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
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 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 2629976	NM_015355.4(SUZ12):c.1594A>G (p.Arg532Gly)	SUZ12 (R509G +1 more)	Single nucleotide variant (missense variant)	SUZ12-related condition	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 976749	NM_015355.4(SUZ12):c.1657C>T (p.Gln553Ter)	SUZ12 (Q530* +1 more)	Single nucleotide variant (nonsense)	Imagawa-Matsumoto syndrome	GPathogenic
Select item 712743	NM_015355.4(SUZ12):c.1671T>C (p.Tyr557=)	SUZ12	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1309323	NM_015355.4(SUZ12):c.1786del (p.Thr596fs)	SUZ12 (T573fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 631549	NM_015355.4(SUZ12):c.1794+1G>A	SUZ12	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2239907	NM_015355.4(SUZ12):c.1794+6T>A	SUZ12	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 3026219	NM_015355.4(SUZ12):c.1795-5C>T	SUZ12	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 590939	NM_015355.4(SUZ12):c.1797A>C (p.Gln599His)	SUZ12 (Q599H +1 more)	Single nucleotide variant (missense variant)	Weaver syndrome	GUncertain significance
Select item 812717	NM_015355.4(SUZ12):c.1807T>C (p.Phe603Leu)	SUZ12 (F603L +1 more)	Single nucleotide variant (missense variant)	Imagawa-Matsumoto syndrome	GPathogenic
Select item 631551	NM_015355.4(SUZ12):c.1826dup (p.Glu610fs)	SUZ12 (E587fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 430647	NM_015355.4(SUZ12):c.1829A>T (p.Glu610Val)	SUZ12 (E610V +1 more)	Single nucleotide variant (missense variant)	Imagawa-Matsumoto syndrome	GPathogenic

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