ClinVar for MedGen (Select 147063) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3233370	NM_170707.4(LMNA):c.1560G>C (p.Trp520Cys)	LMNA (W312C +5 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy	GLikely pathogenic
Select item 1183973	NM_000426.4(LAMA2):c.2834del (p.Gly945fs)	LAMA2 (G945fs)	Deletion (frameshift variant)	Congenital muscular dystrophy	GPathogenic
Select item 689371	NM_001849.4(COL6A2):c.3044_3047delinsACCA (p.Ile1015_Arg1016delinsAsnHis)	COL6A2	Indel (missense variant)	Congenital muscular dystrophy	GUncertain significance
Select item 560376	NM_000426.4(LAMA2):c.5460del (p.Val1821fs)	LAMA2 (V1821fs)	Deletion (frameshift variant)	Congenital muscular dystrophy	GLikely pathogenic
Select item 424833	NM_001267550.2(TTN):c.[106531+2T>A];[107867delT]			Congenital muscular dystrophy	GLikely pathogenic
Select item 424832	NM_001267550.2(TTN):c.[42315_42318delGAAA];[67349-2A>C]			Congenital muscular dystrophy	GLikely pathogenic
Select item 424831	NM_001267550.2(TTN):c.[39547+3A>G];[42151+1G>C]			Congenital muscular dystrophy	GLikely pathogenic
Select item 374201	NM_170707.4(LMNA):c.130G>T (p.Val44Phe)	LMNA (V44F)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GConflicting classifications of pathogenicity
Select item 374200	NM_000540.3(RYR1):c.844C>T (p.Arg282Trp)	RYR1 (R282W)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 374199	NM_000540.3(RYR1):c.1186G>A (p.Glu396Lys)	RYR1 (E396K)	Single nucleotide variant (missense variant)	Myopathy +2 more	GLikely pathogenic
Select item 374142	NM_000540.3(RYR1):c.14713C>A (p.Pro4905Thr)	RYR1 (P4905T +1 more)	Single nucleotide variant (missense variant)	Congenital hip dislocation +3 more	GUncertain significance
Select item 374050	NM_001164508.2(NEB):c.7362C>G (p.Asn2454Lys)	NEB (N2454K)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +2 more	GUncertain significance
Select item 279965	NM_001267550.2(TTN):c.101019_101020dup (p.Arg33674fs)	TTN, TTN-AS1 (R32033fs +5 more)	Duplication (frameshift variant)	not provided +8 more	GPathogenic/Likely pathogenic
Select item 279809	NM_017946.4(FKBP14):c.362dup (p.Glu122fs)	FKBP14, FKBP14-AS1 (E122fs)	Duplication (frameshift variant +1 more)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
Select item 194453	NM_001164508.2(NEB):c.25367C>T (p.Thr8456Met)	NEB, RIF1 (T8491M +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +5 more	GConflicting classifications of pathogenicity
Select item 162596	NM_013382.7(POMT2):c.-47_-44del	LOC130056177, POMT2	Deletion (5 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Recessive +1 more	GConflicting classifications of pathogenicity
Select item 162593	NM_001077365.2(POMT1):c.1503_1508dup (p.500_501RE[4])	POMT1	Duplication (inframe_insertion +2 more)	Walker-Warburg congenital muscular dystrophy +4 more	GUncertain significance
Select item 161291	NM_170707.4(LMNA):c.1931G>A (p.Arg644His)	LMNA (R532H +2 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 2 +5 more	GConflicting classifications of pathogenicity
Select item 95453	NM_001077365.2(POMT1):c.123-5dup	POMT1	Duplication (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2K +6 more	GBenign/Likely benign
Select item 93252	NM_000540.3(RYR1):c.13513G>C (p.Asp4505His)	RYR1 (D4505H +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GBenign FDA Recognized database
Select item 66931	NM_170707.4(LMNA):c.746G>A (p.Arg249Gln)	LMNA (R249Q +2 more)	Single nucleotide variant (missense variant)	Abnormality of the musculature +8 more	GPathogenic/Likely pathogenic
Select item 66860	NM_170707.4(LMNA):c.1622G>A (p.Arg541His)	LMNA (R541H +2 more)	Single nucleotide variant (missense variant +1 more)	Hutchinson-Gilford syndrome +7 more	GPathogenic/Likely pathogenic
Select item 17621	NM_000070.3(CAPN3):c.550del (p.Thr184fs)	CAPN3 (T184fs)	Deletion (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +24 more	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 23