SMC1B[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC130067651, LOC130067652 +1004 more	Copy number gain	See cases	GPathogenic
Select item 145111	GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3	LOC130067596, LOC130067597 +687 more	Copy number gain	See cases	GPathogenic
Select item 147775	GRCh38/hg38 22q13.2-13.33(chr22:41871143-50739836)x1	A4GALT, ACR +580 more	Copy number loss	See cases	GPathogenic
Select item 154688	GRCh38/hg38 22q13.2-13.33(chr22:42080077-50739836)x3	LOC126863184, LOC126863185 +541 more	Copy number gain	See cases	GPathogenic
Select item 146215	GRCh38/hg38 22q13.2-13.31(chr22:42197923-47305564)x4	LOC130067605, LOC130067606 +303 more	Copy number gain	See cases	GPathogenic
Select item 153178	GRCh38/hg38 22q13.2-13.33(chr22:42380961-50759410)x3	LOC126863187, LOC126863188 +523 more	Copy number gain	See cases	GPathogenic
Select item 57636	GRCh38/hg38 22q13.2-13.33(chr22:42433752-50738932)x1	A4GALT, ACR +521 more	Copy number loss	See cases	GPathogenic
Select item 147622	GRCh38/hg38 22q13.2-13.33(chr22:42493445-50268479)x1	A4GALT, ALG12 +428 more	Copy number loss	See cases	GPathogenic
Select item 57944	GRCh38/hg38 22q13.2-13.33(chr22:42599757-50725241)x3	A4GALT, ADM2 +502 more	Copy number gain	See cases	GPathogenic
Select item 57945	GRCh38/hg38 22q13.2-13.33(chr22:42653747-50739836)x3	LOC126863187, LOC126863188 +495 more	Copy number gain	See cases	GPathogenic
Select item 148050	GRCh38/hg38 22q13.2-13.33(chr22:42710276-50739836)x3	CIMAP1B, CPT1B +492 more	Copy number gain	See cases	GPathogenic
Select item 57669	GRCh38/hg38 22q13.2-13.33(chr22:42826246-50739836)x1	LOC130067640, LOC130067641 +483 more	Copy number loss	See cases	GPathogenic
Select item 152914	GRCh38/hg38 22q13.2-13.33(chr22:42837094-50735806)x1	ADM2, ALG12 +481 more	Copy number loss	See cases	GPathogenic
Select item 976862	NC_000022.11:g.43032129_50739836del	CRELD2, DENND6B +471 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 152340	GRCh38/hg38 22q13.2-13.33(chr22:43187980-50745444)x1	ACR, ADM2 +451 more	Copy number loss	See cases	GPathogenic
Select item 976870	NC_000022.11:g.43802117_50806121del	DENND6B, EFCAB6 +443 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 57670	GRCh38/hg38 22q13.31-13.33(chr22:43807366-50739836)x1	ACR, ADM2 +441 more	Copy number loss	See cases	GPathogenic
Select item 146121	GRCh38/hg38 22q13.31-13.33(chr22:43902561-50739836)x1	ACR, ADM2 +434 more	Copy number loss	See cases	GPathogenic
Select item 146895	GRCh38/hg38 22q13.31-13.33(chr22:43992879-50683114)x3	ADM2, ALG12 +428 more	Copy number gain	See cases	GBenign
Select item 976875	NC_000022.11:g.44245760_50806121del	LOC121627953, LOC121627954 +411 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 3062348	GRCh38/hg38 22q13.31-13.33(chr22:44549957-50789329)	CHKB, LOC112695108 +404 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 144383	GRCh38/hg38 22q13.31-13.33(chr22:44606363-50739836)x1	ACR, ADM2 +401 more	Copy number loss	See cases	GPathogenic
Select item 976876	NC_000022.11:g.44702479_50806138del	CPT1B, CRELD2 +401 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 57672	GRCh38/hg38 22q13.31-13.33(chr22:44740175-50739836)x1	ACR, ADM2 +396 more	Copy number loss	See cases	GPathogenic
Select item 147743	GRCh38/hg38 22q13.31-13.33(chr22:44764289-50739836)x1	ACR, ADM2 +396 more	Copy number loss	See cases	GPathogenic
Select item 147377	GRCh38/hg38 22q13.31-13.33(chr22:44797239-50739836)x3	ACR, ADM2 +396 more	Copy number gain	See cases	GPathogenic
Select item 57947	GRCh38/hg38 22q13.31-13.33(chr22:44811200-50739836)x3	LOC130067697, LOC130067698 +396 more	Copy number gain	See cases	GPathogenic
Select item 155419	GRCh38/hg38 22q13.31(chr22:44832749-46353315)x3	ARHGAP8, ATXN10 +105 more	Copy number gain	See cases	GUncertain significance
Select item 57264	GRCh38/hg38 22q13.31-13.33(chr22:45239376-50739836)x1	ACR, ADM2 +371 more	Copy number loss	See cases	GPathogenic
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 728760	NM_148674.5(SMC1B):c.3683G>C (p.Ser1228Thr)	SMC1B (S1228T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
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 711091	NM_148674.5(SMC1B):c.3582C>T (p.Asp1194=)	SMC1B	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 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 732420	NM_148674.5(SMC1B):c.3274-7G>A	SMC1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1253849	NM_148674.5(SMC1B):c.3165C>G (p.Phe1055Leu)	SMC1B (F1055L)	Single nucleotide variant (missense variant)	not provided	GBenign
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 2268651	NM_148674.5(SMC1B):c.2849T>C (p.Ile950Thr)	SMC1B (I950T)	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 781622	NM_148674.5(SMC1B):c.2709-10G>A	SMC1B	Single nucleotide variant (intron variant)	not provided	GBenign
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 3320875	NM_148674.5(SMC1B):c.2409T>G (p.Ile803Met)	SMC1B (I803M)	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 3320871	NM_148674.5(SMC1B):c.2279G>A (p.Arg760Gln)	SMC1B (R760Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 781635	NM_148674.5(SMC1B):c.2251T>C (p.Leu751=)	SMC1B	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2540033	NM_148674.5(SMC1B):c.2161A>T (p.Met721Leu)	SMC1B (M721L)	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 2306223	NM_148674.5(SMC1B):c.2033G>A (p.Arg678Gln)	SMC1B (R678Q)	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 2310859	NM_148674.5(SMC1B):c.1975T>A (p.Leu659Ile)	SMC1B (L659I)	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 3320876	NM_148674.5(SMC1B):c.1784T>C (p.Ile595Thr)	SMC1B (I595T)	Single nucleotide variant (missense variant)	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 3166354	NM_148674.5(SMC1B):c.1619G>A (p.Arg540Gln)	SMC1B (R540Q)	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 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 3320877	NM_148674.5(SMC1B):c.1305A>G (p.Ile435Met)	SMC1B (I435M)	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 2273208	NM_148674.5(SMC1B):c.1239G>C (p.Arg413Ser)	SMC1B (R413S)	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 2367886	NM_148674.5(SMC1B):c.1197A>C (p.Glu399Asp)	SMC1B (E399D)	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 2542557	NM_148674.5(SMC1B):c.1036G>T (p.Ala346Ser)	SMC1B (A346S)	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 2653285	NM_148674.5(SMC1B):c.921C>T (p.His307=)	SMC1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2511714	NM_148674.5(SMC1B):c.833A>G (p.Gln278Arg)	SMC1B (Q278R)	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 726030	NM_148674.5(SMC1B):c.738T>C (p.Asn246=)	SMC1B	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 3166358	NM_148674.5(SMC1B):c.623G>A (p.Arg208His)	SMC1B (R208H)	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 2472838	NM_148674.5(SMC1B):c.601T>A (p.Leu201Ile)	SMC1B (L201I)	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 2359599	NM_148674.5(SMC1B):c.554A>G (p.Asn185Ser)	SMC1B (N185S)	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 2610727	NM_148674.5(SMC1B):c.489G>C (p.Glu163Asp)	SMC1B (E163D)	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 2301099	NM_148674.5(SMC1B):c.416C>T (p.Thr139Ile)	SMC1B (T139I)	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 2460229	NM_148674.5(SMC1B):c.341G>A (p.Arg114His)	SMC1B (R114H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2653286	NM_148674.5(SMC1B):c.300G>A (p.Gly100=)	SMC1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3166356	NM_148674.5(SMC1B):c.245T>C (p.Ile82Thr)	SMC1B (I82T)	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 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 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

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