C0027868[trait identifier] AND "Laboratory for Molecular Medicine, Mas - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 48032	NM_170707.4(LMNA):c.1146C>T (p.Gly382=)	LMNA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GPathogenic/Likely pathogenic
Select item 66853	NM_170707.4(LMNA):c.1608+1G>A	LMNA	Single nucleotide variant (splice donor variant)	Charcot-Marie-Tooth disease type 2B1 +12 more	GPathogenic
Select item 228243	NM_001100.4(ACTA1):c.808G>C (p.Gly270Arg)	ACTA1 (G270R)	Single nucleotide variant (missense variant)	Neuromuscular disease +1 more	GPathogenic
Select item 202529	NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter)	TTN, TTN-AS1 (Q34238* +5 more)	Single nucleotide variant (nonsense)	Limb-girdle muscular dystrophy +14 more	GConflicting classifications of pathogenicity
Select item 196723	NM_001267550.2(TTN):c.107377+1G>A	TTN, TTN-AS1	Single nucleotide variant (splice donor variant)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 178839	NM_133378.4(TTN):c.[68689_68692delAACA;98315delG]	LOC129935182, TTN +1 more (G32772fs +5 more)	Deletion (frameshift variant +1 more)	Neuromuscular disease	GPathogenic
Select item 46601	NM_001267550.2(TTN):c.15496+1G>A	TTN	Single nucleotide variant (intron variant +1 more)	Neuromuscular disease +2 more	GPathogenic/Likely pathogenic
Select item 66412	NM_001927.4(DES):c.35C>T (p.Ser12Phe)	DES (S12F)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +3 more	GPathogenic/Likely pathogenic
Select item 178660	NM_001927.4(DES):c.600del (p.Lys201fs)	DES (K201fs)	Deletion (frameshift variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 177872	NM_001927.4(DES):c.1285C>T (p.Arg429Ter)	DES (R429*)	Single nucleotide variant (nonsense)	Desmin-related myofibrillar myopathy +4 more	GPathogenic/Likely pathogenic
Select item 66402	NM_001927.4(DES):c.1360C>T (p.Arg454Trp)	DES (R454W)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 165232	NM_000337.6(SGCD):c.294+1G>A	SGCD	Single nucleotide variant (splice donor variant)	Neuromuscular disease +2 more	GLikely pathogenic
Select item 48118	NM_000337.6(SGCD):c.390del (p.Ala131fs)	SGCD (A130fs +1 more)	Deletion (frameshift variant)	Neuromuscular disease +1 more	GPathogenic/Likely pathogenic
Select item 4728	NM_001368067.1(LDB3):c.494C>T (p.Ala165Val)	LDB3, LOC110121486 (A165V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 43069	NM_000257.4(MYH7):c.5401G>A (p.Glu1801Lys)	MYH7 (E1801K)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GLikely pathogenic FDA Recognized database
Select item 929258	NM_003104.6(SORD):c.757del (p.Ala253fs)	SORD (A253fs)	Deletion (frameshift variant +1 more)	Neuromuscular disease +5 more	GPathogenic/Likely pathogenic
Select item 193600	NM_000540.3(RYR1):c.957+5_957+29del	RYR1	Deletion (splice donor variant)	RYR1-related disorder +4 more	GUncertain significance
Select item 161372	NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp)	RYR1 (R1469W)	Single nucleotide variant (missense variant)	RYR1-related disorder +7 more	GConflicting classifications of pathogenicity
Select item 159856	NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter)	RYR1 (R2241*)	Single nucleotide variant (nonsense)	Hydrops fetalis +8 more	GConflicting classifications of pathogenicity
Select item 12989	NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys)	RYR1 (M2423K)	Single nucleotide variant (missense variant)	Congenital multicore myopathy with external ophthalmoplegia +7 more	GConflicting classifications of pathogenicity
Select item 133012	NM_000540.3(RYR1):c.11315G>A (p.Arg3772Gln)	RYR1 (R3772Q +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GLikely pathogenic FDA Recognized database
Select item 133075	NM_000540.3(RYR1):c.14524G>A (p.Val4842Met)	RYR1 (V4842M +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia of anesthesia	GUncertain significance FDA Recognized database
Select item 179496	NM_000117.3(EMD):c.83-2A>G	EMD	Single nucleotide variant (splice acceptor variant)	Neuromuscular disease	GLikely pathogenic
Select item 163403	NM_000117.3(EMD):c.266-2A>G	EMD	Single nucleotide variant (splice acceptor variant)	Neuromuscular disease +2 more	GPathogenic
Select item 179133	NM_000117.3(EMD):c.650_654dup (p.Gln219fs)	EMD (Q219fs)	Microsatellite (frameshift variant)	Neuromuscular disease +1 more	GPathogenic/Likely pathogenic

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Items: 25