SMC1A[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 488014	Single allele	ARMCX3, CT47A11 +2631 more	Duplication	Autism +1 more	GPathogenic
Select item 146764	GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1	HMGN5, HNRNPH2 +2633 more	Copy number loss	See cases	GPathogenic
Select item 160983	GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1	LOC130068194, LOC130068195 +2632 more	Copy number loss	See cases	GPathogenic
Select item 160897	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	LOC126863191, LOC126863192 +2633 more	Copy number gain	See cases	GPathogenic
Select item 160890	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	LOC130068432, LOC130068433 +2633 more	Copy number loss	See cases	GPathogenic
Select item 148051	GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3	IL1RAPL1, IL2RG +1398 more	Copy number gain	See cases	GPathogenic
Select item 144172	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4	LOC130068031, LOC130068032 +2633 more	Copy number gain	See cases	GPathogenic
Select item 57087	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	LOC110120594, LOC110120595 +2633 more	Copy number loss	See cases	GPathogenic
Select item 57086	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	LOC130067964, LOC130067965 +2633 more	Copy number gain	See cases	GPathogenic
Select item 154558	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3	CT45A7, CT45A8 +2632 more	Copy number gain	See cases	GPathogenic
Select item 152052	GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1	LOC130068171, LOC130068172 +1069 more	Copy number loss	See cases	GPathogenic
Select item 150510	GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1	ASMT, ASMTL +1475 more	Copy number loss	See cases	GPathogenic
Select item 150498	GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1	LOC130068270, LOC130068271 +1163 more	Copy number loss	See cases	GPathogenic
Select item 148821	GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1	LOC129391293, LOC129391294 +1628 more	Copy number loss	See cases	GPathogenic
Select item 148478	GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1	NBDY, NDP +1163 more	Copy number loss	See cases	GPathogenic
Select item 146861	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1	ABCB7, ABCD1 +2632 more	Copy number loss	See cases	GPathogenic
Select item 146857	GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708)	FANCB, FGD1 +1932 more	Copy number loss	See cases	GPathogenic
Select item 145166	GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1	ACE2, ACE2-DT +1163 more	Copy number loss	See cases	GPathogenic
Select item 144544	GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1	PDHA1, PDK3 +1163 more	Copy number loss	See cases	GPathogenic
Select item 144465	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1	ABCB7, ABCD1 +2632 more	Copy number loss	See cases	GPathogenic
Select item 144429	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3	AP1S2, APEX2 +2632 more	Copy number gain	See cases	GPathogenic
Select item 144310	GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1	TIMM8A, TIMP1 +2631 more	Copy number loss	See cases	GPathogenic
Select item 161089	GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1	LOC119407398, LOC119407399 +2632 more	Copy number loss	See cases	GPathogenic
Select item 57161	GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1	FAM223B, FAM226A +2628 more	Copy number loss	See cases	GPathogenic
Select item 57160	GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3	LOC126863207, LOC126863208 +2628 more	Copy number gain	See cases	GPathogenic
Select item 152900	GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3	LOC130068458, LOC130068459 +2633 more	Copy number gain	See cases	GPathogenic
Select item 145995	GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1	LOC113875011, LOC113875012 +2633 more	Copy number loss	See cases	GPathogenic
Select item 145162	GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3	ABCB7, ABCD1 +2632 more	Copy number gain	See cases	GPathogenic
Select item 58553	GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3	LOC130068362, LOC130068363 +2632 more	Copy number gain	See cases	GPathogenic
Select item 161091	GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3	ABCB7, ABCD1 +2631 more	Copy number gain	See cases	GPathogenic
Select item 161088	GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1	LOC130068054, LOC130068055 +2631 more	Copy number loss	See cases	GPathogenic
Select item 59186	GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1	USP27X-DT, USP51 +1154 more	Copy number loss	See cases	GPathogenic
Select item 58555	GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3	LOC126863302, LOC126863303 +2631 more	Copy number gain	See cases	GPathogenic
Select item 147257	GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1	LOC119407406, LOC119407407 +2632 more	Copy number loss	See cases	GPathogenic
Select item 155374	GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1	ACOT9, ABCB7 +2632 more	Copy number loss	See cases	GPathogenic
Select item 155366	GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3	LOC126863301, LOC126863302 +2632 more	Copy number gain	See cases	GPathogenic
Select item 155063	GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1	PAGE2, PAGE2B +1130 more	Copy number loss	See cases	GPathogenic
Select item 153937	GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3	LOC130067921, LOC130067922 +1798 more	Copy number gain	See cases	GPathogenic
Select item 155152	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3	LOC126863205, LOC126863206 +2632 more	Copy number gain	See cases	GPathogenic
Select item 154249	GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1	ACE2, ACE2-DT +1216 more	Copy number loss	See cases	GPathogenic
Select item 152158	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1	LOC107985687, LOC107988021 +2632 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 152157	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4	LOC130067947, LOC130067948 +2632 more	Copy number gain	See cases	GPathogenic
Select item 151130	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3	CT45A3, CT45A5 +2632 more	Copy number gain	See cases	GPathogenic
Select item 59190	GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1	PRAF2, PRDX4 +1163 more	Copy number loss	See cases	GPathogenic
Select item 59200	GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1	LOC129391306, LOC129391307 +1493 more	Copy number loss	See cases	GPathogenic
Select item 150422	GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1	CDKL5, CDR1 +2611 more	Copy number loss	See cases	GPathogenic
Select item 152899	GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3	ABCB7, ABCD1 +2603 more	Copy number gain	See cases	GPathogenic
Select item 147627	GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3	LOC126863296, LOC126863297 +2593 more	Copy number gain	See cases	GPathogenic
Select item 59202	GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1	PDHA1, PDK3 +1130 more	Copy number loss	See cases	GPathogenic
Select item 147683	GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2	LOC130068368, LOC130068369 +2593 more	Copy number gain	See cases	GPathogenic
Select item 58586	GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3	LOC130067891, LOC130067892 +2595 more	Copy number gain	See cases	GPathogenic
Select item 57225	GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2	LOC130068100, LOC130068101 +2585 more	Copy number gain	See cases	GPathogenic
Select item 145979	GRCh38/hg38 Xp22.31-11.22(chrX:8176030-53962833)x1	LOC130068028, LOC130068029 +960 more	Copy number loss	See cases	GPathogenic
Select item 149705	GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1	ABCB7, ACE2 +2046 more	Copy number loss	See cases	GPathogenic
Select item 146240	GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1	ABCB7, ABCD1 +2102 more	Copy number loss	See cases	GPathogenic
Select item 145974	GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1	ABCB7, ABCD1 +2098 more	Copy number loss	See cases	GPathogenic
Select item 153068	GRCh38/hg38 Xp11.3-11.22(chrX:46971389-54130971)x3	AKAP4, ARAF +328 more	Copy number gain	See cases	GPathogenic
Select item 146707	GRCh38/hg38 Xp11.23-11.21(chrX:48344666-58055036)x3	AKAP4, ALAS2 +343 more	Copy number gain	See cases	GPathogenic
Select item 148340	GRCh38/hg38 Xp11.23-q22.1(chrX:49100536-102174742)x1	ABCB7, AKAP4 +640 more	Copy number loss	See cases	GPathogenic
Select item 57921	GRCh38/hg38 Xp11.23-11.22(chrX:50086006-54030240)x1	AKAP4, BMP15 +88 more	Copy number loss	See cases	GPathogenic
Select item 153303	GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604)	ABCB7, ACSL4 +824 more	Copy number loss	See cases	GPathogenic
Select item 58616	GRCh38/hg38 Xp11.22(chrX:50916108-53902080)x2	BMP15, CENPVL1 +77 more	Copy number gain	See cases	GPathogenic
Select item 153755	GRCh38/hg38 Xp11.22-11.1(chrX:51654792-58469500)x1	ALAS2, APEX2 +162 more	Copy number loss	See cases	GPathogenic
Select item 58617	GRCh38/hg38 Xp11.22-11.21(chrX:51664377-58055036)x3	LOC121853058, LOC125467753 +162 more	Copy number gain	See cases	GPathogenic
Select item 58618	GRCh38/hg38 Xp11.22-11.1(chrX:52363196-58455952)x2	ALAS2, APEX2 +146 more	Copy number gain	See cases	GPathogenic
Select item 154689	GRCh38/hg38 Xp11.22-q11.2(chrX:52809123-65305544)x3	ALAS2, AMER1 +169 more	Copy number gain	See cases	GPathogenic
Select item 149318	GRCh38/hg38 Xp11.22(chrX:52975325-53610511)x3	FAM156A, GPR173 +29 more	Copy number gain	See cases	GUncertain significance
Select item 155282	GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1	ABCB7, ABCD1 +1590 more	Copy number loss	See cases	GPathogenic
Select item 153262	GRCh38/hg38 Xp11.22(chrX:53339720-53764162)x1	HSD17B10, HUWE1 +15 more	Copy number loss	See cases	GUncertain significance
Select item 913389	NM_006306.4(SMC1A):c.*5946C>T	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 368542	NM_006306.4(SMC1A):c.*5915T>C	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 913390	NM_006306.4(SMC1A):c.*5855G>T	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 913391	NM_006306.4(SMC1A):c.*5853A>G	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 913392	NM_006306.4(SMC1A):c.*5722A>T	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 368543	NM_006306.4(SMC1A):c.*5692G>A	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 913393	NM_006306.4(SMC1A):c.*5506A>T	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 914504	NM_006306.4(SMC1A):c.*5489G>T	SMC1A	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 368544	NM_006306.4(SMC1A):c.*5481G>A	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GBenign
Select item 154438	GRCh38/hg38 Xp11.22(chrX:53374635-53878183)x3	HSD17B10, HUWE1 +15 more	Copy number gain	See cases	GUncertain significance
Select item 914505	NM_006306.4(SMC1A):c.*5451A>G	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 368545	NM_006306.4(SMC1A):c.*5444G>A	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GBenign
Select item 914506	NM_006306.4(SMC1A):c.*5443C>G	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 368546	NM_006306.4(SMC1A):c.*5380G>A	SMC1A	Single nucleotide variant (3 prime UTR variant)	De Lange syndrome	GLikely benign
Select item 60310	GRCh38/hg38 Xp11.22(chrX:53374742-53543761)x3	HSD17B10, HUWE1 +4 more	Copy number gain	See cases	GUncertain significance
Select item 368547	NM_006306.4(SMC1A):c.*5355G>A	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 368548	NM_006306.4(SMC1A):c.*5352C>T	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 915024	NM_006306.4(SMC1A):c.*5251G>T	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 368549	NM_006306.4(SMC1A):c.*5197T>C	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 915025	NM_006306.4(SMC1A):c.*5051G>T	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 368550	NM_006306.4(SMC1A):c.*5016T>C	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GBenign
Select item 915026	NM_006306.4(SMC1A):c.*4998T>C	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 368551	NM_006306.4(SMC1A):c.4952_4953del	SMC1A	Deletion (3 prime UTR variant)	De Lange syndrome	GLikely benign
Select item 915027	NM_006306.4(SMC1A):c.*4887T>C	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GBenign
Select item 368552	NM_006306.4(SMC1A):c.*4645T>C	SMC1A	Single nucleotide variant (3 prime UTR variant)	De Lange syndrome	GLikely benign
Select item 368553	NM_006306.4(SMC1A):c.*4581T>C	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 368554	NM_006306.4(SMC1A):c.*4443G>A	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 368555	NM_006306.4(SMC1A):c.*4382A>G	SMC1A	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 913066	NM_006306.4(SMC1A):c.*4367T>C	SMC1A	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 154501	GRCh38/hg38 Xp11.22(chrX:53375808-53387455)x3	SMC1A	Copy number gain	See cases	GUncertain significance
Select item 154500	GRCh38/hg38 Xp11.22(chrX:53375808-53387455)x4	SMC1A	Copy number gain	See cases	GUncertain significance

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