"Revvity Omics, Revvity"[submitter] AND "SMCHD1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2433595	NM_015295.3(SMCHD1):c.35_45dup (p.Thr16fs)	SMCHD1 (T16fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
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 2436190	NM_015295.3(SMCHD1):c.80C>T (p.Thr27Met)	SMCHD1 (T27M)	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 499318	NM_015295.3(SMCHD1):c.121G>A (p.Gly41Arg)	SMCHD1 (G41R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1059030	NM_015295.3(SMCHD1):c.160G>A (p.Ala54Thr)	SMCHD1 (A54T)	Single nucleotide variant (missense variant)	not provided +1 more	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 286192	NM_015295.3(SMCHD1):c.244A>G (p.Ile82Val)	SMCHD1 (I82V)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2 +1 more	GUncertain significance
Select item 2690716	NM_015295.3(SMCHD1):c.262+1G>T	SMCHD1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 252695	NM_015295.3(SMCHD1):c.263A>G (p.Asp88Gly)	SMCHD1 (D88G)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2 +2 more	GUncertain significance
Select item 805489	NM_015295.3(SMCHD1):c.296T>C (p.Leu99Pro)	SMCHD1 (L99P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 948195	NM_015295.3(SMCHD1):c.311A>G (p.Asn104Ser)	SMCHD1 (N104S)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2 +1 more	GUncertain significance
Select item 2436199	NM_015295.3(SMCHD1):c.332C>T (p.Thr111Met)	SMCHD1 (T111M)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2 +1 more	GUncertain significance
Select item 662162	NM_015295.3(SMCHD1):c.482G>T (p.Gly161Val)	SMCHD1 (G161V)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2 +1 more	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 2436151	NM_015295.3(SMCHD1):c.625G>A (p.Gly209Ser)	SMCHD1 (G209S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2433605	NM_015295.3(SMCHD1):c.638+1G>A	SMCHD1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
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 1440991	NM_015295.3(SMCHD1):c.677G>A (p.Arg226His)	SMCHD1 (R226H)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2 +1 more	GUncertain significance
Select item 1323623	NM_015295.3(SMCHD1):c.727_730del (p.Val243fs)	SMCHD1 (V243fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1325106	NM_015295.3(SMCHD1):c.820AAG[1] (p.Lys275del)	SMCHD1 (K275del)	Microsatellite (inframe_deletion)	not provided	GLikely pathogenic
Select item 285999	NM_015295.3(SMCHD1):c.1031G>A (p.Arg344Gln)	SMCHD1 (R344Q)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2 +1 more	GUncertain significance
Select item 287026	NM_015295.3(SMCHD1):c.1039G>A (p.Ala347Thr)	SMCHD1 (A347T)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2 +2 more	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 281277	NM_015295.3(SMCHD1):c.1086A>G (p.Ile362Met)	SMCHD1 (I362M)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2 +2 more	GUncertain significance
Select item 1404780	NM_015295.3(SMCHD1):c.1088G>A (p.Arg363Gln)	SMCHD1 (R363Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 595554	NM_015295.3(SMCHD1):c.1186C>T (p.Gln396Ter)	SMCHD1 (Q396*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 288633	NM_015295.3(SMCHD1):c.1186C>A (p.Gln396Lys)	SMCHD1 (Q396K)	Single nucleotide variant (missense variant)	not provided +1 more	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 2436149	NM_015295.3(SMCHD1):c.1283G>T (p.Arg428Leu)	SMCHD1 (R428L)	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 497503	NM_015295.3(SMCHD1):c.1566C>G (p.Ser522Arg)	SMCHD1 (S522R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1434351	NM_015295.3(SMCHD1):c.1648-4_1648-3delinsTT	SMCHD1	Indel (intron variant)	not provided +1 more	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 1323628	NM_015295.3(SMCHD1):c.1651C>T (p.Gln551Ter)	SMCHD1 (Q551*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 942587	NM_015295.3(SMCHD1):c.1654C>T (p.Arg552Ter)	SMCHD1 (R552*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
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 596391	NM_015295.3(SMCHD1):c.1824A>G (p.Ile608Met)	SMCHD1 (I608M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 260635	NM_015295.3(SMCHD1):c.1957-3C>T	SMCHD1	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
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 2436192	NM_015295.3(SMCHD1):c.1987A>G (p.Thr663Ala)	SMCHD1 (T663A)	Single nucleotide variant (missense 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 2436176	NM_015295.3(SMCHD1):c.2033T>C (p.Val678Ala)	SMCHD1 (V678A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2050738	NM_015295.3(SMCHD1):c.2033T>A (p.Val678Asp)	SMCHD1 (V678D)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2 +1 more	GUncertain significance
Select item 1323622	NM_015295.3(SMCHD1):c.2071_2075del (p.Asp691fs)	SMCHD1 (D691fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2433629	NM_015295.3(SMCHD1):c.2176_2179del (p.Lys726fs)	SMCHD1 (K726fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2042317	NM_015295.3(SMCHD1):c.2260+3A>G	SMCHD1	Single nucleotide variant (intron variant)	Facioscapulohumeral muscular dystrophy 2 +1 more	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 2436187	NM_015295.3(SMCHD1):c.2428C>T (p.Pro810Ser)	SMCHD1 (P810S)	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 1323629	NM_015295.3(SMCHD1):c.2604-1G>T	SMCHD1	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 594519	NM_015295.3(SMCHD1):c.2606G>T (p.Gly869Val)	SMCHD1 (G869V)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2 +1 more	GUncertain significance
Select item 287185	NM_015295.3(SMCHD1):c.2612C>A (p.Ser871Tyr)	SMCHD1 (S871Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 283266	NM_015295.3(SMCHD1):c.2637A>C (p.Lys879Asn)	SMCHD1 (K879N)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2 +1 more	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 2436152	NM_015295.3(SMCHD1):c.2822T>C (p.Ile941Thr)	SMCHD1 (I941T)	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 2436193	NM_015295.3(SMCHD1):c.2934T>G (p.Leu978=)	SMCHD1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1038196	NM_015295.3(SMCHD1):c.2945T>C (p.Val982Ala)	SMCHD1 (V982A)	Single nucleotide variant (missense variant)	not provided +1 more	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 1314485	NM_015295.3(SMCHD1):c.3023C>T (p.Thr1008Met)	SMCHD1 (T1008M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1323627	NM_015295.3(SMCHD1):c.3049-2A>G	SMCHD1	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 1384137	NM_015295.3(SMCHD1):c.3106G>A (p.Val1036Ile)	SMCHD1 (V1036I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 573872	NM_015295.3(SMCHD1):c.3148A>T (p.Ile1050Phe)	SMCHD1 (I1050F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 286021	NM_015295.3(SMCHD1):c.3209T>C (p.Ile1070Thr)	SMCHD1 (I1070T)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 847951	NM_015295.3(SMCHD1):c.3276+4_3276+7del	SMCHD1	Microsatellite (splice donor variant)	Facioscapulohumeral muscular dystrophy 2 +1 more	GConflicting classifications of pathogenicity
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 2436195	NM_015295.3(SMCHD1):c.3307C>T (p.His1103Tyr)	SMCHD1 (H1103Y)	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 286463	NM_015295.3(SMCHD1):c.3340G>A (p.Val1114Ile)	SMCHD1 (V1114I)	Single nucleotide variant (missense variant)	not provided +1 more	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 2436200	NM_015295.3(SMCHD1):c.3426-5T>G	SMCHD1	Single nucleotide variant (intron 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 2436198	NM_015295.3(SMCHD1):c.3730T>C (p.Phe1244Leu)	SMCHD1 (F1244L)	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 2436164	NM_015295.3(SMCHD1):c.3787C>T (p.Pro1263Ser)	SMCHD1 (P1263S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 939142	NM_015295.3(SMCHD1):c.3890A>G (p.His1297Arg)	SMCHD1 (H1297R)	Single nucleotide variant (missense variant)	not provided +1 more	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 2436160	NM_015295.3(SMCHD1):c.3908C>A (p.Thr1303Lys)	SMCHD1 (T1303K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2433614	NM_015295.3(SMCHD1):c.3938C>G (p.Ser1313Ter)	SMCHD1 (S1313*)	Single nucleotide variant (nonsense)	Facioscapulohumeral muscular dystrophy 2 +1 more	GPathogenic/Likely pathogenic
Select item 1323621	NM_015295.3(SMCHD1):c.4007+1G>A	SMCHD1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 448425	NM_015295.3(SMCHD1):c.4108C>T (p.Arg1370Cys)	SMCHD1 (R1370C)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2 +2 more	GConflicting classifications of pathogenicity
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 594913	NM_015295.3(SMCHD1):c.4226G>A (p.Arg1409His)	SMCHD1 (R1409H)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2 +1 more	GUncertain significance
Select item 532802	NM_015295.3(SMCHD1):c.4255A>G (p.Thr1419Ala)	SMCHD1 (T1419A)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2 +1 more	GUncertain significance
Select item 1878838	NM_015295.3(SMCHD1):c.4267C>T (p.Arg1423Ter)	SMCHD1 (R1423*)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 1402724	NM_015295.3(SMCHD1):c.4281T>C (p.Asn1427=)	SMCHD1	Single nucleotide variant (synonymous variant)	Facioscapulohumeral muscular dystrophy 2 +1 more	GUncertain significance
Select item 1055874	NM_015295.3(SMCHD1):c.4316A>G (p.Asn1439Ser)	SMCHD1 (N1439S)	Single nucleotide variant (missense variant)	Arrhinia with choanal atresia and microphthalmia syndrome +2 more	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 964028	NM_015295.3(SMCHD1):c.4517G>A (p.Arg1506His)	SMCHD1 (R1506H)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2 +1 more	GUncertain significance
Select item 39859	NM_015295.3(SMCHD1):c.4566G>A (p.Thr1522=)	SMCHD1	Single nucleotide variant (synonymous variant)	Facioscapulohumeral muscular dystrophy 2 +1 more	GPathogenic
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 594526	NM_015295.3(SMCHD1):c.4696G>A (p.Val1566Met)	SMCHD1 (V1566M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 808342	NM_015295.3(SMCHD1):c.4700A>G (p.Asn1567Ser)	SMCHD1 (N1567S)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2 +1 more	GUncertain significance
Select item 500659	NM_015295.3(SMCHD1):c.4733_4736dup (p.Glu1579fs)	SMCHD1 (E1579fs)	Duplication (frameshift variant)	not provided	GPathogenic
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 2436150	NM_015295.3(SMCHD1):c.4822A>G (p.Ile1608Val)	SMCHD1 (I1608V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 500233	NM_015295.3(SMCHD1):c.4912G>A (p.Val1638Ile)	SMCHD1 (V1638I)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2 +1 more	GUncertain significance
Select item 284563	NM_015295.3(SMCHD1):c.5006G>A (p.Arg1669Gln)	SMCHD1 (R1669Q)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2 +2 more	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

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