"Institute of Human Genetics, University of Wuerzburg"[submitter] AND - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2145892	NM_015295.3(SMCHD1):c.186+6C>G	LOC130062084, SMCHD1	Single nucleotide variant (intron variant)	Facioscapulohumeral muscular dystrophy 2	GUncertain significance
Select item 1341966	NM_015295.3(SMCHD1):c.261del (p.Phe87fs)	SMCHD1 (F87fs)	Deletion (frameshift variant)	Facioscapulohumeral muscular dystrophy 2	GPathogenic
Select item 3237372	NM_015295.3(SMCHD1):c.620G>A (p.Arg207Lys)	SMCHD1 (R207K)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2	GUncertain significance
Select item 560357	NM_015295.3(SMCHD1):c.694A>G (p.Ile232Val)	SMCHD1 (I232V)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2	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 291312	NM_015295.3(SMCHD1):c.1286ATC[1] (p.His430del)	SMCHD1 (H430del)	Microsatellite (inframe_deletion)	Scapulohumeral muscular dystrophy	GLikely pathogenic
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 2683842	NM_015295.3(SMCHD1):c.1520del (p.Asn507fs)	SMCHD1 (N507fs)	Deletion (frameshift variant)	Facioscapulohumeral muscular dystrophy 2	GPathogenic
Select item 2628017	NM_015295.3(SMCHD1):c.2063G>C (p.Arg688Thr)	SMCHD1 (R688T)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2	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 1504908	NM_015295.3(SMCHD1):c.2635A>G (p.Lys879Glu)	SMCHD1 (K879E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1236183	NM_015295.3(SMCHD1):c.2775T>G (p.Gly925=)	SMCHD1	Single nucleotide variant (synonymous variant)	Scapular winging	GUncertain significance
Select item 2578460	NM_015295.3(SMCHD1):c.2776C>T (p.His926Tyr)	SMCHD1 (H926Y)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2	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 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 560349	NM_015295.3(SMCHD1):c.3529G>T (p.Asp1177Tyr)	SMCHD1 (D1177Y)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2	GUncertain significance
Select item 992817	NM_015295.3(SMCHD1):c.3660_3661del (p.Gly1221fs)	SMCHD1 (G1221fs)	Microsatellite (frameshift variant)	Muscular atrophy	GPathogenic
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 3024458	NM_015295.3(SMCHD1):c.3801+2T>C	SMCHD1	Single nucleotide variant (splice donor variant)	Facioscapulohumeral muscular dystrophy 2	GUncertain significance
Select item 1542094	NM_015295.3(SMCHD1):c.3802-12T>C	SMCHD1	Single nucleotide variant (intron variant)	Facioscapulohumeral muscular dystrophy 2	GLikely benign
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 981185	NM_015295.3(SMCHD1):c.3927+2dup	SMCHD1	Duplication (splice donor variant)	Facioscapulohumeral muscular dystrophy 2	GUncertain significance
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 1299499	NM_015295.3(SMCHD1):c.4452G>C (p.Leu1484=)	SMCHD1	Single nucleotide variant (synonymous variant)	Facioscapulohumeral muscular dystrophy 2	GLikely benign
Select item 689561	NM_015295.3(SMCHD1):c.4459C>T (p.Gln1487Ter)	SMCHD1 (Q1487*)	Single nucleotide variant (nonsense)	Scapulohumeral muscular dystrophy	GPathogenic
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 1679538	NM_015295.3(SMCHD1):c.4702G>C (p.Gly1568Arg)	SMCHD1 (G1568R)	Single nucleotide variant (missense variant)	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 2578459	NM_015295.3(SMCHD1):c.5994-11C>G	SMCHD1	Single nucleotide variant (intron variant)	Facioscapulohumeral muscular dystrophy 2	GUncertain significance

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Items: 31