C0026848[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 374095	NM_006516.4(SLC2A1):c.1407G>C (p.Gln469His)	SLC2A1 (Q469H)	Single nucleotide variant (missense variant)	Hereditary cryohydrocytosis with reduced stomatin +13 more	GUncertain significance
Select item 374109	NM_153741.2(DPM3):c.137T>A (p.Leu46Gln)	DPM3 (L46Q +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GLikely pathogenic
Select item 202529	NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter)	TTN, TTN-AS1 (Q34238* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G +14 more	GConflicting classifications of pathogenicity
Select item 179037	NM_001267550.2(TTN):c.93803A>C (p.Lys31268Thr)	TTN, TTN-AS1 (K28700T +5 more)	Single nucleotide variant (missense variant)	Tibial muscular dystrophy +9 more	GConflicting classifications of pathogenicity
Select item 47404	NM_001267550.2(TTN):c.81899G>A (p.Arg27300His)	TTN-AS1, TTN (R27300H +5 more)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 374037	NM_001267550.2(TTN):c.74567G>A (p.Trp24856Ter)	TTN, TTN-AS1 (W24856* +5 more)	Single nucleotide variant (nonsense)	Myopathy	GPathogenic
Select item 179981	NM_001267550.2(TTN):c.73604C>A (p.Ser24535Tyr)	TTN, TTN-AS1 (S21967Y +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 191971	NM_001267550.2(TTN):c.41521G>A (p.Asp13841Asn)	TTN (D11273N +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +9 more	GConflicting classifications of pathogenicity
Select item 523429	NM_001267550.2(TTN):c.35265dup (p.Pro11756fs)	TTN (P11382fs +2 more)	Duplication (frameshift variant +1 more)	Dilated cardiomyopathy 1G +2 more	GConflicting classifications of pathogenicity
Select item 374069	NM_004393.6(DAG1):c.932G>A (p.Arg311Gln)	DAG1 (R311Q)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 17545	NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter)	CLCN1 (R894*)	Single nucleotide variant (nonsense +1 more)	Abnormality of the musculature +8 more	GPathogenic/Likely pathogenic
Select item 7350	NM_012210.4(TRIM32):c.1459G>A (p.Asp487Asn)	ASTN2, TRIM32 (D487N)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GPathogenic
Select item 2164	NM_213599.3(ANO5):c.191dup (p.Asn64fs)	ANO5 (N63fs +1 more)	Duplication (frameshift variant)	ANO5-related muscular dystrophy +12 more	GPathogenic/Likely pathogenic
Select item 286450	NM_213599.3(ANO5):c.1664G>T (p.Ser555Ile)	ANO5 (S555I +1 more)	Single nucleotide variant (missense variant)	Myopathy +8 more	GPathogenic/Likely pathogenic
Select item 374043	NM_213599.3(ANO5):c.2029+2dup	ANO5	Duplication (splice donor variant)	Gnathodiaphyseal dysplasia +1 more	GLikely pathogenic
Select item 8054	NM_005055.5(RAPSN):c.490C>T (p.Arg164Cys)	RAPSN (R164C)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 2 +3 more	GPathogenic/Likely pathogenic
Select item 8046	NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys)	RAPSN (N88K)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 4C +7 more	GPathogenic/Likely pathogenic
Select item 164324	NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys)	LOC126861898, MYH7 (R858C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +10 more	GPathogenic/Likely pathogenic
Select item 374099	NM_001376.5(DYNC1H1):c.751C>T (p.Arg251Cys)	DYNC1H1 (R251C)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 373991	NM_001376.5(DYNC1H1):c.5311G>A (p.Gly1771Arg)	DYNC1H1 (G1771R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O +4 more	GLikely benign
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
Select item 523316	NM_000070.3(CAPN3):c.632+5G>A	CAPN3	Single nucleotide variant (intron variant)	Muscle weakness +2 more	GLikely pathogenic
Select item 374123	NM_000018.4(ACADVL):c.1358G>A (p.Arg453Gln)	ACADVL (R453Q +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic FDA Recognized database
Select item 203585	NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln)	ACADVL (R459Q +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic FDA Recognized database
Select item 4027	NM_000152.5(GAA):c.-32-13T>G	GAA	Single nucleotide variant (intron variant)	Myopathy +6 more	GPathogenic/Likely pathogenic
Select item 523259	GRCh37/hg19 17p12(chr17:14215739-15422582)	CDRT4, HS3ST3B1 +4 more	Copy number loss	Attention deficit hyperactivity disorder +3 more	GPathogenic
Select item 7282	NM_001005361.3(DNM2):c.1102G>A (p.Glu368Lys)	DNM2 (E368K)	Single nucleotide variant (missense variant)	Centronuclear myopathy +5 more	GPathogenic
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 373926	NM_000540.3(RYR1):c.8463G>A (p.Trp2821Ter)	LOC126862902, RYR1 (W2821*)	Single nucleotide variant (nonsense)	Malignant hyperthermia, susceptibility to, 1 +1 more	GConflicting classifications of pathogenicity
Select item 4221	NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)	FKRP (L276I)	Single nucleotide variant (missense variant)	Myopathy caused by variation in FKRP +20 more	GPathogenic/Likely pathogenic
Select item 374059	NM_004006.3(DMD):c.5699T>G (p.Leu1900Ter)	DMD (L1900* +5 more)	Single nucleotide variant (nonsense)	Myopathy	GPathogenic
Select item 374010	NM_004006.3(DMD):c.177del (p.Gln60fs)	DMD (Q52fs +2 more)	Deletion (frameshift variant +1 more)	Dilated cardiomyopathy 3B +9 more	GLikely pathogenic
Select item 523333	NM_000117.3(EMD):c.184dup (p.Ser62fs)	EMD (S62fs)	Duplication (frameshift variant)	Myopathy +2 more	GPathogenic

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Items: 34