ClinVar for MedGen (Select 10323) - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2582814	NM_001100.4(ACTA1):c.317T>C (p.Leu106Pro)	ACTA1 (L106P)	Single nucleotide variant (missense variant)	Neuromuscular disease	GLikely pathogenic
Select item 2582810	NM_001100.4(ACTA1):c.440C>T (p.Ser147Phe)	ACTA1 (S147F)	Single nucleotide variant (missense variant)	Neuromuscular disease	GLikely pathogenic
Select item 2582808	NM_001100.4(ACTA1):c.616+2T>C	ACTA1	Single nucleotide variant (splice donor variant)	Neuromuscular disease	GLikely pathogenic
Select item 2582796	NM_001100.4(ACTA1):c.723C>A (p.Ser241Arg)	ACTA1 (S241R)	Single nucleotide variant (missense variant)	Neuromuscular disease	GLikely pathogenic
Select item 1878639	NM_001366244.2(GOLGA2):c.2332C>T (p.Gln778Ter)	GOLGA2 (Q620* +11 more)	Single nucleotide variant (nonsense)	Neuromuscular disease	GLikely pathogenic
Select item 929258	NM_003104.6(SORD):c.757del (p.Ala253fs)	SORD (A253fs)	Deletion (frameshift variant +1 more)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 830329	NM_022834.5(VWA1):c.186_209del (p.Pro63_Ala70del)	VWA1	Deletion (inframe_deletion +1 more)	Neuromuscular disease	GLikely pathogenic
Select item 830328	NM_022834.5(VWA1):c.879del (p.Arg293fs)	VWA1 (R293fs)	Deletion (frameshift variant +1 more)	Neuromuscular disease +1 more	GPathogenic/Likely pathogenic
Select item 830327	NM_022834.5(VWA1):c.62_71dup (p.Gly25fs)	VWA1 (G25fs)	Microsatellite (frameshift variant)	Neuronopathy, distal hereditary motor, autosomal recessive 7 +3 more	GPathogenic/Likely pathogenic
Select item 830326	NM_022834.5(VWA1):c.94C>T (p.Arg32Ter)	VWA1 (R32*)	Single nucleotide variant (nonsense +1 more)	VWA1-related condition	GLikely pathogenic
Select item 830325	NM_022834.5(VWA1):c.252del (p.Glu85fs)	VWA1 (E85fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 830324	NM_022834.5(VWA1):c.62_71del (p.Gly21fs)	VWA1 (G21fs)	Microsatellite (frameshift variant)	Neuromuscular disease +1 more	GPathogenic/Likely pathogenic
Select item 424828	NM_000540.2(RYR1):c.[14524G>A];[2029C>T]			Central core myopathy	GLikely pathogenic
Select item 424825	NM_000540.2(RYR1):c.[14645C>T];[6721C>T]			Central core myopathy	GLikely pathogenic
Select item 370045	NC_012920.1:m.3275C>T	MT-TL1	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
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)	TTN-related myopathy +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)	Cardiovascular phenotype +9 more	GConflicting classifications of pathogenicity
Select item 193600	NM_000540.3(RYR1):c.957+5_957+29del	RYR1	Deletion (splice donor variant)	RYR1-Related Disorders +4 more	GUncertain significance
Select item 179496	NM_000117.3(EMD):c.83-2A>G	EMD	Single nucleotide variant (splice acceptor variant)	Neuromuscular disease	GLikely pathogenic
Select item 179133	NM_000117.3(EMD):c.650_654dup (p.Gln219fs)	EMD (Q219fs)	Microsatellite (frameshift variant)	Neuromuscular disease +1 more	GPathogenic/Likely pathogenic
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 178660	NM_001927.4(DES):c.600del (p.Lys201fs)	DES (K201fs)	Deletion (frameshift variant)	Desmin-related myofibrillar myopathy +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 165232	NM_000337.6(SGCD):c.294+1G>A	SGCD	Single nucleotide variant (splice donor variant)	Neuromuscular disease +2 more	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 161372	NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp)	RYR1 (R1469W)	Single nucleotide variant (missense variant)	RYR1-Related Disorders +7 more	GConflicting classifications of pathogenicity
Select item 159856	NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter)	RYR1 (R2241*)	Single nucleotide variant (nonsense)	RYR1-Related Disorders +8 more	GConflicting classifications of pathogenicity
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 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 126480	NM_021625.5(TRPV4):c.649G>T (p.Ala217Ser)	TRPV4 (A217S +1 more)	Single nucleotide variant (missense variant)	TRPV4-related condition +10 more	GBenign
Select item 126478	NM_021625.5(TRPV4):c.2396_2412del (p.Pro799fs)	TRPV4 (P692fs +4 more)	Deletion (frameshift variant)	Spondyloepimetaphyseal dysplasia, Maroteaux type	GPathogenic
Select item 126467	NM_021625.5(TRPV4):c.1772A>G (p.Tyr591Cys)	TRPV4 (Y544C +3 more)	Single nucleotide variant (missense variant)	Neuromuscular disease +1 more	Gnot provided
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 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 66402	NM_001927.4(DES):c.1360C>T (p.Arg454Trp)	DES (R454W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 65396	NM_000540.2(RYR1):c.[10348-6C>G;14524G>A]	RYR1 (V4842M +1 more)	Single nucleotide variant (intron variant +1 more)	Congenital multicore myopathy with external ophthalmoplegia	GPathogenic
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 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 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 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 39419	NM_021625.5(TRPV4):c.557G>A (p.Arg186Gln)	TRPV4 (R186Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 30476	NM_021625.5(TRPV4):c.826A>G (p.Lys276Glu)	TRPV4 (K276E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 30475	NM_021625.5(TRPV4):c.2219C>T (p.Thr740Ile)	TRPV4 (T706I +3 more)	Single nucleotide variant (missense variant)	Metatropic dysplasia	GPathogenic
Select item 30474	NM_021625.5(TRPV4):c.232G>T (p.Gly78Trp)	TRPV4 (G78W +1 more)	Single nucleotide variant (missense variant)	Metatropic dysplasia	GPathogenic
Select item 30473	NM_021625.5(TRPV4):c.947G>A (p.Arg316His)	TRPV4 (R316H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 30472	NM_021625.5(TRPV4):c.694C>T (p.Arg232Cys)	TRPV4 (R232C +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +2 more	GPathogenic
Select item 30469	NM_021625.5(TRPV4):c.1625C>A (p.Ser542Tyr)	TRPV4 (S435Y +3 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C	GPathogenic
Select item 18435	NM_021625.5(TRPV4):c.2389G>A (p.Glu797Lys)	TRPV4 (E690K +3 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic
Select item 18434	NM_021625.5(TRPV4):c.832G>A (p.Glu278Lys)	TRPV4 (E278K +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease axonal type 2C	GPathogenic
Select item 18432	NM_021625.5(TRPV4):c.2396C>G (p.Pro799Arg)	TRPV4 (P752R +3 more)	Single nucleotide variant (missense variant)	Metatropic dysplasia	GPathogenic
Select item 12989	NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys)	RYR1 (M2423K)	Single nucleotide variant (missense variant)	Central core myopathy +7 more	GConflicting classifications of pathogenicity
Select item 5002	NM_021625.5(TRPV4):c.805C>T (p.Arg269Cys)	TRPV4 (R269C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic
Select item 5001	NM_021625.5(TRPV4):c.946C>T (p.Arg316Cys)	TRPV4 (R316C +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic
Select item 5000	NM_021625.5(TRPV4):c.806G>A (p.Arg269His)	TRPV4 (R269H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +14 more	GPathogenic/Likely pathogenic
Select item 4999	NM_021625.5(TRPV4):c.943C>T (p.Arg315Trp)	TRPV4 (R315W +2 more)	Single nucleotide variant (missense variant)	TRPV4-related condition +5 more	GPathogenic/Likely pathogenic
Select item 4994	NM_021625.5(TRPV4):c.1781G>A (p.Arg594His)	TRPV4 (R534H +3 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 4993	NM_021625.5(TRPV4):c.1858G>A (p.Val620Ile)	TRPV4 (V560I +3 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +3 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)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity

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Items: 59