ClinVar for Gene (Select 27127) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3320880	NM_148674.5(SMC1B):c.2197G>A (p.Glu733Lys)	SMC1B (E733K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320879	NM_148674.5(SMC1B):c.2474G>A (p.Arg825His)	SMC1B (R825H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320878	NM_148674.5(SMC1B):c.521A>C (p.Lys174Thr)	SMC1B (K174T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320877	NM_148674.5(SMC1B):c.1305A>G (p.Ile435Met)	SMC1B (I435M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320876	NM_148674.5(SMC1B):c.1784T>C (p.Ile595Thr)	SMC1B (I595T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320875	NM_148674.5(SMC1B):c.2409T>G (p.Ile803Met)	SMC1B (I803M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320874	NM_148674.5(SMC1B):c.1561G>C (p.Asp521His)	SMC1B (D521H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320873	NM_148674.5(SMC1B):c.599A>G (p.Lys200Arg)	SMC1B (K200R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320871	NM_148674.5(SMC1B):c.2279G>A (p.Arg760Gln)	SMC1B (R760Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3166358	NM_148674.5(SMC1B):c.623G>A (p.Arg208His)	SMC1B (R208H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166357	NM_148674.5(SMC1B):c.3220T>C (p.Ser1074Pro)	SMC1B (S1074P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166356	NM_148674.5(SMC1B):c.245T>C (p.Ile82Thr)	SMC1B (I82T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166355	NM_148674.5(SMC1B):c.2138A>T (p.Lys713Ile)	SMC1B (K713I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166354	NM_148674.5(SMC1B):c.1619G>A (p.Arg540Gln)	SMC1B (R540Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166353	NM_148674.5(SMC1B):c.1486C>T (p.Arg496Cys)	SMC1B (R496C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166352	NM_148674.5(SMC1B):c.1340A>G (p.Asp447Gly)	SMC1B (D447G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062463	GRCh37/hg19 22q13.2-13.31(chr22:43920110-46548382)x1	ARHGAP8, ATXN10 +24 more	Copy number loss	not specified	GLikely pathogenic
Select item 3062451	GRCh37/hg19 22q13.2-13.33(chr22:43107363-51156692)x1	A4GALT, ADM2 +78 more	Copy number loss	not specified	GPathogenic
Select item 3062450	GRCh37/hg19 22q13.1-13.31(chr22:39044105-45794212)x3	A4GALT, ACO2 +106 more	Copy number gain	not specified	GPathogenic
Select item 3062449	GRCh37/hg19 22q13.2-13.33(chr22:44034281-51197838)x1	ACR, ADM2 +69 more	Copy number loss	not specified	GPathogenic
Select item 3062442	GRCh37/hg19 22q13.31-13.33(chr22:44502872-51183871)x1	CELSR1, CERK +64 more	Copy number loss	not specified	GPathogenic
Select item 3062348	GRCh38/hg38 22q13.31-13.33(chr22:44549957-50789329)	FAM118A, FBLN1 +404 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 2685682	GRCh37/hg19 22q13.31-13.33(chr22:45611226-51197838)x1	CELSR1, CERK +55 more	Copy number loss	not provided	GPathogenic
Select item 2684939	GRCh37/hg19 22q13.31-13.33(chr22:45657164-51197838)x3	ACR, ADM2 +54 more	Copy number gain	not provided	GPathogenic
Select item 2672923	GRCh37/hg19 22q13.2-13.33(chr22:43820992-51218654)x1	ACR, ADM2 +71 more	Copy number loss	not provided	GPathogenic
Select item 2653286	NM_148674.5(SMC1B):c.300G>A (p.Gly100=)	SMC1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653285	NM_148674.5(SMC1B):c.921C>T (p.His307=)	SMC1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2610727	NM_148674.5(SMC1B):c.489G>C (p.Glu163Asp)	SMC1B (E163D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603727	NM_148674.5(SMC1B):c.1866G>A (p.Met622Ile)	SMC1B (M622I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542557	NM_148674.5(SMC1B):c.1036G>T (p.Ala346Ser)	SMC1B (A346S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540033	NM_148674.5(SMC1B):c.2161A>T (p.Met721Leu)	SMC1B (M721L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520944	NM_148674.5(SMC1B):c.2909A>G (p.Glu970Gly)	SMC1B (E970G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518797	NM_148674.5(SMC1B):c.3580G>A (p.Asp1194Asn)	SMC1B (D1120N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511714	NM_148674.5(SMC1B):c.833A>G (p.Gln278Arg)	SMC1B (Q278R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488216	NM_148674.5(SMC1B):c.2384A>C (p.Lys795Thr)	SMC1B (K795T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473621	NM_148674.5(SMC1B):c.1242T>G (p.His414Gln)	SMC1B (H414Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472838	NM_148674.5(SMC1B):c.601T>A (p.Leu201Ile)	SMC1B (L201I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470598	NM_148674.5(SMC1B):c.1999G>A (p.Asp667Asn)	SMC1B (D667N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467446	NM_148674.5(SMC1B):c.2768G>A (p.Arg923Gln)	SMC1B (R923Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460229	NM_148674.5(SMC1B):c.341G>A (p.Arg114His)	SMC1B (R114H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400633	NM_148674.5(SMC1B):c.389C>G (p.Ala130Gly)	SMC1B (A130G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387649	NM_148674.5(SMC1B):c.3704G>A (p.Arg1235His)	SMC1B (R1161H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2382718	NM_148674.5(SMC1B):c.317G>A (p.Arg106His)	SMC1B (R106H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2367886	NM_148674.5(SMC1B):c.1197A>C (p.Glu399Asp)	SMC1B (E399D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359599	NM_148674.5(SMC1B):c.554A>G (p.Asn185Ser)	SMC1B (N185S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343513	NM_148674.5(SMC1B):c.268G>A (p.Glu90Lys)	SMC1B (E90K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310859	NM_148674.5(SMC1B):c.1975T>A (p.Leu659Ile)	SMC1B (L659I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309166	NM_148674.5(SMC1B):c.1159G>T (p.Ala387Ser)	SMC1B (A387S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306223	NM_148674.5(SMC1B):c.2033G>A (p.Arg678Gln)	SMC1B (R678Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302534	NM_148674.5(SMC1B):c.602T>C (p.Leu201Ser)	SMC1B (L201S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301099	NM_148674.5(SMC1B):c.416C>T (p.Thr139Ile)	SMC1B (T139I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296575	NM_148674.5(SMC1B):c.1198C>A (p.Gln400Lys)	SMC1B (Q400K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280976	NM_148674.5(SMC1B):c.3330C>A (p.Asn1110Lys)	SMC1B (N1110K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273731	NM_148674.5(SMC1B):c.1762C>T (p.Leu588Phe)	SMC1B (L588F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273208	NM_148674.5(SMC1B):c.1239G>C (p.Arg413Ser)	SMC1B (R413S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268651	NM_148674.5(SMC1B):c.2849T>C (p.Ile950Thr)	SMC1B (I950T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265673	NM_148674.5(SMC1B):c.702G>T (p.Lys234Asn)	SMC1B (K234N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262815	NM_148674.5(SMC1B):c.442C>A (p.Pro148Thr)	SMC1B (P148T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238286	NM_148674.5(SMC1B):c.793G>A (p.Ala265Thr)	SMC1B (A265T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232637	NM_148674.5(SMC1B):c.3601C>G (p.Pro1201Ala)	SMC1B (P1201A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217974	NM_148674.5(SMC1B):c.41C>T (p.Ser14Leu)	SMC1B (S14L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207881	NM_148674.5(SMC1B):c.941T>C (p.Val314Ala)	SMC1B (V314A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808266	GRCh37/hg19 22q13.31-13.33(chr22:44390702-51137629)x1	ADM2, ALG12 +64 more	Copy number loss	not provided	GPathogenic
Select item 1807817	GRCh37/hg19 22q13.2-13.33(chr22:44178749-51183840)x1	ACR, ADM2 +69 more	Copy number loss	not provided	GPathogenic
Select item 1803808	GRCh37/hg19 22q13.2-13.33(chr22:43436847-51188164)x3	MIOX, MPPED1 +76 more	Copy number gain	not provided	GPathogenic
Select item 1801778	NM_148674.5(SMC1B):c.3475G>C (p.Asp1159His)	SMC1B (D1159H)	Single nucleotide variant (missense variant +1 more)	Myoepithelial tumor	GUncertain significance
Select item 1526739	GRCh37/hg19 22q13.2-13.31(chr22:43451316-46662660)	ARHGAP8, ATXN10 +33 more	Copy number loss	not specified	GPathogenic
Select item 1526738	GRCh37/hg19 22q13.2-13.33(chr22:42972719-51197838)	A4GALT, ACR +82 more	Copy number loss	not specified	GPathogenic
Select item 1330161	GRCh37/hg19 22q13.2-13.33(chr22:42321321-51244066)x1	MIOX, PPP6R2 +96 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 1256022	NM_148674.5(SMC1B):c.863A>G (p.Glu288Gly)	SMC1B (E288G)	Single nucleotide variant (missense variant)	Genetic non-acquired premature ovarian failure	GLikely pathogenic
Select item 1253849	NM_148674.5(SMC1B):c.3165C>G (p.Phe1055Leu)	SMC1B (F1055L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 997819	Single allele	BIK, BRD1 +94 more	Deletion	Intellectual disability	GPathogenic
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 979612	GRCh37/hg19 22q13.31(chr22:44649786-45866882)x3	PRR5, RIBC2 +10 more	Copy number gain	not provided	GUncertain significance
Select item 976876	NC_000022.11:g.44702479_50806138del	ACR, ADM2 +401 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976875	NC_000022.11:g.44245760_50806121del	ACR, ADM2 +411 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976870	NC_000022.11:g.43802117_50806121del	PRR5-ARHGAP8, RABL2B +443 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976862	NC_000022.11:g.43032129_50739836del	ACR, ADM2 +471 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 932299	Single allele	ATXN10, BRD1 +45 more	Copy number loss	22q13.3 interstitial deletion	GPathogenic
Select item 816567	GRCh37/hg19 22q13.31(chr22:45553562-45857232)x1	FAM118A, UPK3A +4 more	Copy number loss	not provided	GUncertain significance
Select item 816565	GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3	A4GALT, ACO2 +126 more	Copy number gain	not provided	GPathogenic
Select item 816216	GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	CERK, CHADL +271 more	Copy number gain	not provided	GPathogenic
Select item 781635	NM_148674.5(SMC1B):c.2251T>C (p.Leu751=)	SMC1B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 781622	NM_148674.5(SMC1B):c.2709-10G>A	SMC1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 732420	NM_148674.5(SMC1B):c.3274-7G>A	SMC1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 728760	NM_148674.5(SMC1B):c.3683G>C (p.Ser1228Thr)	SMC1B (S1228T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 726030	NM_148674.5(SMC1B):c.738T>C (p.Asn246=)	SMC1B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 711091	NM_148674.5(SMC1B):c.3582C>T (p.Asp1194=)	SMC1B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 625738	GRCh37/hg19 22q13.31-13.33(chr22:45075720-51181759)	ACR, ADM2 +60 more	Copy number loss	not provided	GPathogenic
Select item 625737	GRCh37/hg19 22q13.2-13.33(chr22:42416026-51181759)	ARHGAP8, CPT1B +92 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 565054	GRCh37/hg19 22q13.2-13.33(chr22:42955616-51183840)x1	A4GALT, ACR +83 more	Copy number loss	not provided	GPathogenic
Select item 565053	GRCh37/hg19 22q13.2-13.33(chr22:43111156-51183840)x1	A4GALT, ACR +79 more	Copy number loss	not provided	GPathogenic
Select item 565052	GRCh37/hg19 22q13.2-13.33(chr22:43320284-51183840)x1	ACR, ADM2 +77 more	Copy number loss	not provided	GPathogenic
Select item 565051	GRCh37/hg19 22q13.31-13.33(chr22:44789956-51183840)x1	ACR, ADM2 +61 more	Copy number loss	not provided	GPathogenic
Select item 443581	GRCh37/hg19 22q13.2-13.33(chr22:43050743-51197838)x1	A4GALT, ACR +79 more	Copy number loss	See cases	GPathogenic
Select item 443057	GRCh37/hg19 22q13.31-13.33(chr22:45261208-51197838)x1	ACR, ADM2 +57 more	Copy number loss	See cases	GPathogenic
Select item 442593	GRCh37/hg19 22q13.2-13.33(chr22:43875989-51197838)x1	ACR, ADM2 +70 more	Copy number loss	See cases	GPathogenic
Select item 441707	GRCh37/hg19 22q13.2-13.33(chr22:43381459-51197838)x1	ACR, ADM2 +77 more	Copy number loss	See cases	GPathogenic
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	ANKRD54, AP1B1 +435 more	Copy number gain	See cases	GPathogenic

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