Related gene-specific medical variations for Gene (Select 23347) - ClinVar

Links from Gene

Items: 95

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242740	NC_000018.9:g.(?_2656075)_(2707938_?)dup	SMCHD1	Duplication	Facioscapulohumeral muscular dystrophy 2	GUncertain significance
Select item 2771034	NM_015295.3(SMCHD1):c.185A>G (p.Gln62Arg)	LOC130062084, SMCHD1 (Q62R)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2	GUncertain significance
Select item 2695578	NM_015295.3(SMCHD1):c.186+7G>T	LOC130062084, SMCHD1	Single nucleotide variant (intron variant)	Facioscapulohumeral muscular dystrophy 2	GLikely benign
Select item 2690716	NM_015295.3(SMCHD1):c.262+1G>T	SMCHD1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2690050	NM_015295.3(SMCHD1):c.5894G>A (p.Arg1965His)	SMCHD1 (R1965H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436200	NM_015295.3(SMCHD1):c.3426-5T>G	SMCHD1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2436198	NM_015295.3(SMCHD1):c.3730T>C (p.Phe1244Leu)	SMCHD1 (F1244L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436197	NM_015295.3(SMCHD1):c.5606G>A (p.Ser1869Asn)	SMCHD1 (S1869N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436195	NM_015295.3(SMCHD1):c.3307C>T (p.His1103Tyr)	SMCHD1 (H1103Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436194	NM_015295.3(SMCHD1):c.599A>G (p.Tyr200Cys)	SMCHD1 (Y200C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436193	NM_015295.3(SMCHD1):c.2934T>G (p.Leu978=)	SMCHD1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2436192	NM_015295.3(SMCHD1):c.1987A>G (p.Thr663Ala)	SMCHD1 (T663A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436191	NM_015295.3(SMCHD1):c.4652C>T (p.Thr1551Ile)	SMCHD1 (T1551I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436190	NM_015295.3(SMCHD1):c.80C>T (p.Thr27Met)	SMCHD1 (T27M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436189	NM_015295.3(SMCHD1):c.2750T>A (p.Ile917Asn)	SMCHD1 (I917N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436188	NM_015295.3(SMCHD1):c.5064T>G (p.Ile1688Met)	SMCHD1 (I1688M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436187	NM_015295.3(SMCHD1):c.2428C>T (p.Pro810Ser)	SMCHD1 (P810S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436186	NM_015295.3(SMCHD1):c.4747G>A (p.Gly1583Arg)	SMCHD1 (G1583R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436185	NM_015295.3(SMCHD1):c.1216A>C (p.Thr406Pro)	SMCHD1 (T406P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436184	NM_015295.3(SMCHD1):c.1976A>G (p.Asp659Gly)	SMCHD1 (D659G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436183	NM_015295.3(SMCHD1):c.5879-3C>T	SMCHD1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2436182	NM_015295.3(SMCHD1):c.1648-3C>T	SMCHD1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2436180	NM_015295.3(SMCHD1):c.2014A>G (p.Thr672Ala)	SMCHD1 (T672A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436178	NM_015295.3(SMCHD1):c.2953T>G (p.Cys985Gly)	SMCHD1 (C985G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436177	NM_015295.3(SMCHD1):c.659G>C (p.Arg220Pro)	SMCHD1 (R220P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436176	NM_015295.3(SMCHD1):c.2033T>C (p.Val678Ala)	SMCHD1 (V678A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436175	NM_015295.3(SMCHD1):c.5022A>G (p.Ile1674Met)	SMCHD1 (I1674M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436174	NM_015295.3(SMCHD1):c.2861T>C (p.Leu954Ser)	SMCHD1 (L954S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436173	NM_015295.3(SMCHD1):c.2455A>C (p.Lys819Gln)	SMCHD1 (K819Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436172	NM_015295.3(SMCHD1):c.3349T>G (p.Ser1117Ala)	SMCHD1 (S1117A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436171	NM_015295.3(SMCHD1):c.3491G>A (p.Gly1164Asp)	SMCHD1 (G1164D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436170	NM_015295.3(SMCHD1):c.5279C>T (p.Ala1760Val)	SMCHD1 (A1760V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436169	NM_015295.3(SMCHD1):c.3763G>T (p.Ala1255Ser)	SMCHD1 (A1255S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436168	NM_015295.3(SMCHD1):c.3908C>G (p.Thr1303Arg)	SMCHD1 (T1303R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436167	NM_015295.3(SMCHD1):c.3316C>G (p.Gln1106Glu)	SMCHD1 (Q1106E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436166	NM_015295.3(SMCHD1):c.1473G>C (p.Trp491Cys)	SMCHD1 (W491C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436165	NM_015295.3(SMCHD1):c.5428G>C (p.Ala1810Pro)	SMCHD1 (A1810P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436164	NM_015295.3(SMCHD1):c.3787C>T (p.Pro1263Ser)	SMCHD1 (P1263S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436162	NM_015295.3(SMCHD1):c.1807G>C (p.Glu603Gln)	SMCHD1 (E603Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436161	NM_015295.3(SMCHD1):c.1049A>T (p.Tyr350Phe)	SMCHD1 (Y350F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436160	NM_015295.3(SMCHD1):c.3908C>A (p.Thr1303Lys)	SMCHD1 (T1303K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436159	NM_015295.3(SMCHD1):c.2420G>A (p.Arg807Lys)	SMCHD1 (R807K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436158	NM_015295.3(SMCHD1):c.94G>A (p.Asp32Asn)	SMCHD1 (D32N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436157	NM_015295.3(SMCHD1):c.220A>G (p.Ile74Val)	SMCHD1 (I74V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436156	NM_015295.3(SMCHD1):c.4130A>G (p.Lys1377Arg)	SMCHD1 (K1377R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436155	NM_015295.3(SMCHD1):c.4338C>A (p.Phe1446Leu)	SMCHD1 (F1446L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436154	NM_015295.3(SMCHD1):c.3283T>G (p.Trp1095Gly)	SMCHD1 (W1095G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436152	NM_015295.3(SMCHD1):c.2822T>C (p.Ile941Thr)	SMCHD1 (I941T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436150	NM_015295.3(SMCHD1):c.4822A>G (p.Ile1608Val)	SMCHD1 (I1608V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436149	NM_015295.3(SMCHD1):c.1283G>T (p.Arg428Leu)	SMCHD1 (R428L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436148	NM_015295.3(SMCHD1):c.5858A>G (p.Lys1953Arg)	SMCHD1 (K1953R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436147	NM_015295.3(SMCHD1):c.47C>T (p.Thr16Ile)	SMCHD1 (T16I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2433633	NM_015295.3(SMCHD1):c.5052+2T>C	SMCHD1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2433629	NM_015295.3(SMCHD1):c.2176_2179del (p.Lys726fs)	SMCHD1 (K726fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2433622	NM_015295.3(SMCHD1):c.5286dup (p.Ile1763fs)	SMCHD1 (I1763fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2433605	NM_015295.3(SMCHD1):c.638+1G>A	SMCHD1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2433595	NM_015295.3(SMCHD1):c.35_45dup (p.Thr16fs)	SMCHD1 (T16fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2433584	NM_015295.3(SMCHD1):c.5720-2A>C	SMCHD1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2145892	NM_015295.3(SMCHD1):c.186+6C>G	LOC130062084, SMCHD1	Single nucleotide variant (intron variant)	Facioscapulohumeral muscular dystrophy 2 +1 more	GConflicting classifications of pathogenicity
Select item 1913208	NM_015295.3(SMCHD1):c.174G>T (p.Ala58=)	LOC130062084, SMCHD1	Single nucleotide variant (synonymous variant)	Facioscapulohumeral muscular dystrophy 2	GLikely benign
Select item 1807034	NM_015295.3(SMCHD1):c.4847-1G>T	SMCHD1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1807032	NM_015295.3(SMCHD1):c.3099T>C (p.Ser1033=)	SMCHD1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1709897	NM_015295.3(SMCHD1):c.182_183del (p.Cys61fs)	LOC130062084, SMCHD1 (C61fs)	Microsatellite (frameshift variant)	Facioscapulohumeral muscular dystrophy 2	GLikely pathogenic
Select item 1665636	NM_015295.3(SMCHD1):c.186+20A>G	LOC130062084, SMCHD1	Single nucleotide variant (intron variant)	Facioscapulohumeral muscular dystrophy 2	GLikely benign
Select item 1656406	NM_015295.3(SMCHD1):c.186+16_186+46dup	LOC130062084, SMCHD1	Duplication (intron variant)	Facioscapulohumeral muscular dystrophy 2	GLikely benign
Select item 1454095	NM_015295.3(SMCHD1):c.186+14C>A	LOC130062084, SMCHD1	Single nucleotide variant (intron variant)	Facioscapulohumeral muscular dystrophy 2	GLikely benign
Select item 1325106	NM_015295.3(SMCHD1):c.820AAG[1] (p.Lys275del)	SMCHD1 (K275del)	Microsatellite (inframe_deletion)	not provided	GLikely pathogenic
Select item 1323629	NM_015295.3(SMCHD1):c.2604-1G>T	SMCHD1	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 1323628	NM_015295.3(SMCHD1):c.1651C>T (p.Gln551Ter)	SMCHD1 (Q551*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1323627	NM_015295.3(SMCHD1):c.3049-2A>G	SMCHD1	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 1323623	NM_015295.3(SMCHD1):c.727_730del (p.Val243fs)	SMCHD1 (V243fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1323622	NM_015295.3(SMCHD1):c.2071_2075del (p.Asp691fs)	SMCHD1 (D691fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1323621	NM_015295.3(SMCHD1):c.4007+1G>A	SMCHD1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1236185	NM_015295.3(SMCHD1):c.4346+1G>T	SMCHD1	Single nucleotide variant (splice donor variant)	Proximal muscle weakness in upper limbs	GPathogenic
Select item 1236183	NM_015295.3(SMCHD1):c.2775T>G (p.Gly925=)	SMCHD1	Single nucleotide variant (synonymous variant)	Scapular winging	GUncertain significance
Select item 1184617	NM_015295.3(SMCHD1):c.3323T>C (p.Leu1108Pro)	SMCHD1 (L1108P)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2	GLikely pathogenic
Select item 1005761	NM_015295.3(SMCHD1):c.176G>T (p.Cys59Phe)	LOC130062084, SMCHD1 (C59F)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2	GUncertain significance
Select item 995263	NM_015295.3(SMCHD1):c.5164G>A (p.Val1722Ile)	SMCHD1 (V1722I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 992817	NM_015295.3(SMCHD1):c.3660_3661del (p.Gly1221fs)	SMCHD1 (G1221fs)	Microsatellite (frameshift variant)	Muscular atrophy	GPathogenic
Select item 984794	NM_015295.3(SMCHD1):c.3891T>A (p.His1297Gln)	SMCHD1 (H1297Q)	Single nucleotide variant (missense variant)	Muscle weakness	GUncertain significance
Select item 981186	NM_015295.3(SMCHD1):c.1367A>G (p.Asp456Gly)	SMCHD1 (D456G)	Single nucleotide variant (missense variant)	Weakness of facial musculature	GUncertain significance
Select item 931674	NM_015295.3(SMCHD1):c.2972G>A (p.Ser991Asn)	SMCHD1 (S991N)	Single nucleotide variant (missense variant)	Arrhinia with choanal atresia and microphthalmia syndrome	GUncertain significance
Select item 689564	NM_015295.3(SMCHD1):c.790G>A (p.Glu264Lys)	SMCHD1 (E264K)	Single nucleotide variant (missense variant)	Scapulohumeral muscular dystrophy	GLikely pathogenic
Select item 689563	NM_015295.3(SMCHD1):c.1172A>G (p.Asn391Ser)	SMCHD1 (N391S)	Single nucleotide variant (missense variant)	Scapulohumeral muscular dystrophy	GUncertain significance
Select item 689562	NM_015295.3(SMCHD1):c.89T>G (p.Leu30Trp)	SMCHD1 (L30W)	Single nucleotide variant (missense variant)	Scapulohumeral muscular dystrophy	GUncertain significance
Select item 689561	NM_015295.3(SMCHD1):c.4459C>T (p.Gln1487Ter)	SMCHD1 (Q1487*)	Single nucleotide variant (nonsense)	Scapulohumeral muscular dystrophy	GPathogenic
Select item 689032	GRCh37/hg19 18p11.32(chr18:2690355-2776268)x3	SMCHD1	Copy number gain	not provided	GUncertain significance
Select item 637007	NM_015295.3(SMCHD1):c.3097A>G (p.Ser1033Gly)	SMCHD1 (S1033G)	Single nucleotide variant (missense variant)	Scapulohumeral muscular dystrophy	GUncertain significance
Select item 637006	NM_015295.3(SMCHD1):c.4966+5G>A	SMCHD1	Single nucleotide variant (intron variant)	Scapulohumeral muscular dystrophy	GLikely pathogenic
Select item 635774	GRCh37/hg19 18p11.32(chr18:2682920-2803186)x3	SMCHD1	Copy number gain	Myopathy	GUncertain significance
Select item 560350	NM_015295.3(SMCHD1):c.2384T>C (p.Val795Ala)	SMCHD1 (V795A)	Single nucleotide variant (missense variant)	Scapulohumeral muscular dystrophy	GUncertain significance
Select item 446476	NM_015295.3(SMCHD1):c.3679G>C (p.Gly1227Arg)	SMCHD1 (G1227R)	Single nucleotide variant (missense variant)	Scapulohumeral muscular dystrophy	GLikely pathogenic
Select item 291312	NM_015295.3(SMCHD1):c.1286ATC[1] (p.His430del)	SMCHD1 (H430del)	Microsatellite (inframe_deletion)	Scapulohumeral muscular dystrophy	GLikely pathogenic
Select item 260632	NM_015295.3(SMCHD1):c.174G>C (p.Ala58=)	LOC130062084, SMCHD1	Single nucleotide variant (synonymous variant)	Arrhinia with choanal atresia and microphthalmia syndrome +3 more	GBenign
Select item 152549	GRCh38/hg38 18p11.32(chr18:2770295-2816145)x3	SMCHD1	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 95