ClinVar for MedGen (Select 355084) - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2431390	NM_015295.3(SMCHD1):c.5572A>G (p.Thr1858Ala)	SMCHD1 (T1858A)	Single nucleotide variant (missense variant)	Arrhinia with choanal atresia and microphthalmia syndrome	GUncertain significance
Select item 1588276	NM_015295.3(SMCHD1):c.1132-14C>T	SMCHD1	Single nucleotide variant (intron variant)	Facioscapulohumeral muscular dystrophy 2 +1 more	GLikely benign
Select item 1333141	NM_015295.3(SMCHD1):c.5052+33dup	SMCHD1	Duplication (intron variant)	Arrhinia with choanal atresia and microphthalmia syndrome	GBenign
Select item 1287884	NM_015295.3(SMCHD1):c.5548-43_5548-40del	SMCHD1	Deletion (intron variant)	not provided +1 more	GBenign
Select item 1272469	NM_015295.3(SMCHD1):c.3277-42_3277-39dup	SMCHD1	Duplication (intron variant)	Arrhinia with choanal atresia and microphthalmia syndrome +1 more	GBenign
Select item 1257705	NM_015295.3(SMCHD1):c.3425+37C>T	SMCHD1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1238447	NM_015295.3(SMCHD1):c.1843-17T>A	SMCHD1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1178726	NM_015295.3(SMCHD1):c.2338+32A>G	SMCHD1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 1030486	NM_015295.3(SMCHD1):c.1504C>G (p.Pro502Ala)	SMCHD1 (P502A)	Single nucleotide variant (missense variant)	Arrhinia with choanal atresia and microphthalmia syndrome	GUncertain significance
Select item 989325	NM_015295.3(SMCHD1):c.4823T>G (p.Ile1608Ser)	SMCHD1 (I1608S)	Single nucleotide variant (missense variant)	Arrhinia with choanal atresia and microphthalmia syndrome	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 931385	NM_015295.3(SMCHD1):c.5798T>A (p.Leu1933His)	SMCHD1 (L1933H)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2 +1 more	GUncertain significance
Select item 431470	NM_015295.3(SMCHD1):c.1571A>G (p.Asn524Ser)	SMCHD1 (N524S)	Single nucleotide variant (missense variant)	Arrhinia with choanal atresia and microphthalmia syndrome	GPathogenic
Select item 431469	NM_015295.3(SMCHD1):c.1568C>A (p.Thr523Lys)	SMCHD1 (T523K)	Single nucleotide variant (missense variant)	Arrhinia with choanal atresia and microphthalmia syndrome	GPathogenic
Select item 431468	NM_015295.3(SMCHD1):c.1417G>C (p.Glu473Gln)	SMCHD1 (E473Q)	Single nucleotide variant (missense variant)	Arrhinia with choanal atresia and microphthalmia syndrome	GPathogenic
Select item 431467	NM_015295.3(SMCHD1):c.1259A>T (p.Asp420Val)	SMCHD1 (D420V)	Single nucleotide variant (missense variant)	Arrhinia with choanal atresia and microphthalmia syndrome	GPathogenic
Select item 431466	NM_015295.3(SMCHD1):c.725C>G (p.Ala242Gly)	SMCHD1 (A242G)	Single nucleotide variant (missense variant)	Arrhinia with choanal atresia and microphthalmia syndrome	GPathogenic
Select item 431465	NM_015295.3(SMCHD1):c.511T>G (p.Phe171Val)	SMCHD1 (F171V)	Single nucleotide variant (missense variant)	Arrhinia with choanal atresia and microphthalmia syndrome	GUncertain significance
Select item 431464	NM_015295.3(SMCHD1):c.423G>T (p.Leu141Phe)	SMCHD1 (L141F)	Single nucleotide variant (missense variant)	Arrhinia with choanal atresia and microphthalmia syndrome	GPathogenic
Select item 431463	NM_015295.3(SMCHD1):c.415A>C (p.Asn139His)	SMCHD1 (N139H)	Single nucleotide variant (missense variant)	Arrhinia with choanal atresia and microphthalmia syndrome	GPathogenic
Select item 431462	NM_015295.3(SMCHD1):c.386T>A (p.Met129Lys)	SMCHD1 (M129K)	Single nucleotide variant (missense variant)	Arrhinia with choanal atresia and microphthalmia syndrome	GPathogenic
Select item 431461	NM_015295.3(SMCHD1):c.320T>C (p.Leu107Pro)	SMCHD1 (L107P)	Single nucleotide variant (missense variant)	Arrhinia with choanal atresia and microphthalmia syndrome	GPathogenic
Select item 375768	NM_015295.3(SMCHD1):c.404G>T (p.Ser135Ile)	SMCHD1 (S135I)	Single nucleotide variant (missense variant)	Arrhinia with choanal atresia and microphthalmia syndrome	GPathogenic
Select item 375767	NM_015295.3(SMCHD1):c.404G>A (p.Ser135Asn)	SMCHD1 (S135N)	Single nucleotide variant (missense variant)	Arrhinia with choanal atresia and microphthalmia syndrome +1 more	GPathogenic
Select item 375766	NM_015295.3(SMCHD1):c.403A>T (p.Ser135Cys)	SMCHD1 (S135C)	Single nucleotide variant (missense variant)	Arrhinia with choanal atresia and microphthalmia syndrome	GPathogenic
Select item 375765	NM_015295.3(SMCHD1):c.410G>A (p.Gly137Glu)	SMCHD1 (G137E)	Single nucleotide variant (missense variant)	Arrhinia with choanal atresia and microphthalmia syndrome +1 more	GPathogenic
Select item 375764	NM_015295.3(SMCHD1):c.408A>C (p.Glu136Asp)	SMCHD1 (E136D)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2	GUncertain significance
Select item 375763	NM_015295.3(SMCHD1):c.1199A>T (p.Gln400Leu)	SMCHD1 (Q400L)	Single nucleotide variant (missense variant)	Arrhinia with choanal atresia and microphthalmia syndrome +2 more	GPathogenic
Select item 375762	NM_015295.3(SMCHD1):c.423G>C (p.Leu141Phe)	SMCHD1 (L141F)	Single nucleotide variant (missense variant)	Arrhinia with choanal atresia and microphthalmia syndrome	GPathogenic
Select item 375761	NM_015295.3(SMCHD1):c.1043A>G (p.His348Arg)	SMCHD1 (H348R)	Single nucleotide variant (missense variant)	Arrhinia with choanal atresia and microphthalmia syndrome	GPathogenic
Select item 375760	NM_015295.3(SMCHD1):c.1034A>G (p.Gln345Arg)	SMCHD1 (Q345R)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2	GUncertain significance
Select item 283760	NM_015295.3(SMCHD1):c.4808C>T (p.Thr1603Ile)	SMCHD1 (T1603I)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2 +3 more	GBenign/Likely benign
Select item 282418	NM_015295.3(SMCHD1):c.1655G>A (p.Arg552Gln)	SMCHD1 (R552Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 282095	NM_015295.3(SMCHD1):c.3527C>T (p.Thr1176Ile)	SMCHD1 (T1176I)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2 +2 more	GUncertain significance
Select item 282094	NM_015295.3(SMCHD1):c.3527_3528inv (p.Thr1176Met)	SMCHD1 (T1176M)	Inversion (missense variant)	Facioscapulohumeral muscular dystrophy 2 +2 more	GUncertain significance
Select item 260654	NM_015295.3(SMCHD1):c.5476+10A>G	SMCHD1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 260652	NM_015295.3(SMCHD1):c.4967-15G>T	SMCHD1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 260648	NM_015295.3(SMCHD1):c.4137A>G (p.Ala1379=)	SMCHD1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 260643	NM_015295.3(SMCHD1):c.3528A>G (p.Thr1176=)	SMCHD1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 260637	NM_015295.3(SMCHD1):c.2122G>A (p.Val708Ile)	SMCHD1 (V708I)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 260633	NM_015295.3(SMCHD1):c.1851A>G (p.Thr617=)	SMCHD1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 260632	NM_015295.3(SMCHD1):c.174G>C (p.Ala58=)	LOC130062084, SMCHD1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign

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Links from MedGen

Items: 43