ClinVar for MedGen (Select 1790866) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 500004	NM_001130987.2(DYSF):c.794C>T (p.Pro265Leu)	DYSF (P233L +3 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +2 more	GConflicting classifications of pathogenicity
Select item 336985	NM_001130987.2(DYSF):c.*267C>G	DYSF	Single nucleotide variant (3 prime UTR variant)	Miyoshi myopathy +3 more	GConflicting classifications of pathogenicity
Select item 336984	NM_001130987.2(DYSF):c.*245T>C	DYSF	Single nucleotide variant (3 prime UTR variant)	Limb-girdle muscular dystrophy, recessive +2 more	GUncertain significance
Select item 336983	NM_001130987.2(DYSF):c.*199T>G	DYSF	Single nucleotide variant (3 prime UTR variant)	Miyoshi myopathy +3 more	GBenign/Likely benign
Select item 336982	NM_001130987.2(DYSF):c.*179G>A	DYSF	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of dysferlin +2 more	GUncertain significance
Select item 336981	NM_001130987.2(DYSF):c.*142G>A	DYSF	Single nucleotide variant (3 prime UTR variant)	Limb-girdle muscular dystrophy, recessive +2 more	GUncertain significance
Select item 336980	NM_001130987.2(DYSF):c.*78C>T	DYSF	Single nucleotide variant (3 prime UTR variant)	Limb-girdle muscular dystrophy, recessive +2 more	GUncertain significance
Select item 336979	NM_001130987.2(DYSF):c.*75C>T	DYSF	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of dysferlin +2 more	GUncertain significance
Select item 336978	NM_001130987.2(DYSF):c.*53G>A	DYSF	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of dysferlin +3 more	GConflicting classifications of pathogenicity
Select item 336977	NM_001130987.2(DYSF):c.6175C>T (p.Arg2059Cys)	DYSF (R2020C +13 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 336976	NM_001130987.2(DYSF):c.5643-12A>G	DYSF	Single nucleotide variant (intron variant)	Miyoshi myopathy +2 more	GConflicting classifications of pathogenicity
Select item 336975	NM_001130987.2(DYSF):c.5528C>T (p.Thr1843Ile)	DYSF (T1804I +13 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 336974	NM_001130987.2(DYSF):c.4932C>T (p.Ile1644=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin +2 more	GConflicting classifications of pathogenicity
Select item 336973	NM_001130987.2(DYSF):c.4608G>T (p.Lys1536Asn)	DYSF (K1497N +13 more)	Single nucleotide variant (missense variant)	Miyoshi myopathy +3 more	GConflicting classifications of pathogenicity
Select item 336972	NM_001130987.2(DYSF):c.4464+7T>C	DYSF	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 336971	NM_001130987.2(DYSF):c.4252C>G (p.Pro1418Ala)	DYSF (P1400A +7 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +4 more	GConflicting classifications of pathogenicity
Select item 336970	NM_001130987.2(DYSF):c.4125C>T (p.Leu1375=)	DYSF	Single nucleotide variant (synonymous variant)	Miyoshi myopathy +2 more	GConflicting classifications of pathogenicity
Select item 336969	NM_001130987.2(DYSF):c.4027A>G (p.Ile1343Val)	DYSF (I1325V +7 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 336968	NM_001130987.2(DYSF):c.3927+10G>A	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin +2 more	GUncertain significance
Select item 336967	NM_001130987.2(DYSF):c.3851C>T (p.Pro1284Leu)	DYSF (P1266L +7 more)	Single nucleotide variant (missense variant)	Miyoshi myopathy +3 more	GUncertain significance
Select item 336966	NM_001130987.2(DYSF):c.3778C>T (p.Arg1260Cys)	DYSF (R1242C +7 more)	Single nucleotide variant (missense variant)	Miyoshi myopathy +3 more	GUncertain significance
Select item 336965	NM_001130987.2(DYSF):c.3442G>A (p.Val1148Ile)	DYSF (V1130I +7 more)	Single nucleotide variant (missense variant)	Miyoshi myopathy +3 more	GConflicting classifications of pathogenicity
Select item 336964	NM_001130987.2(DYSF):c.3161C>T (p.Thr1054Ile)	DYSF (T1036I +7 more)	Single nucleotide variant (missense variant)	Miyoshi myopathy +2 more	GConflicting classifications of pathogenicity
Select item 336963	NM_001130987.2(DYSF):c.3052T>G (p.Ser1018Ala)	DYSF (S1000A +7 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 336962	NM_001130987.2(DYSF):c.2864C>T (p.Thr955Ile)	DYSF (T937I +7 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 336961	NM_001130987.2(DYSF):c.2789A>G (p.Lys930Arg)	DYSF (K912R +7 more)	Single nucleotide variant (missense variant)	Limb-girdle muscular dystrophy, recessive +2 more	GUncertain significance
Select item 336960	NM_001130987.2(DYSF):c.2590G>A (p.Ala864Thr)	DYSF (A846T +7 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 336959	NM_001130987.2(DYSF):c.2409+14G>A	DYSF	Single nucleotide variant (intron variant)	Miyoshi myopathy +3 more	GConflicting classifications of pathogenicity
Select item 336958	NM_001130987.2(DYSF):c.1917G>A (p.Gly639=)	DYSF	Single nucleotide variant (synonymous variant)	Miyoshi myopathy +2 more	GConflicting classifications of pathogenicity
Select item 336957	NM_001130987.2(DYSF):c.1807-10C>T	DYSF	Single nucleotide variant (intron variant)	Miyoshi myopathy +2 more	GConflicting classifications of pathogenicity
Select item 336956	NM_001130987.2(DYSF):c.1799G>T (p.Arg600Leu)	DYSF (R582L +7 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 336955	NM_001130987.2(DYSF):c.1784C>T (p.Ala595Val)	DYSF (A577V +7 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 336954	NM_001130987.2(DYSF):c.1577-1639G>C	DYSF	Single nucleotide variant (intron variant)	Miyoshi myopathy +2 more	GConflicting classifications of pathogenicity
Select item 336953	NM_001130987.2(DYSF):c.1511A>G (p.Asn504Ser)	DYSF (N504S +3 more)	Single nucleotide variant (missense variant)	Miyoshi myopathy +2 more	GUncertain significance
Select item 336952	NM_001130987.2(DYSF):c.1503G>A (p.Leu501=)	DYSF	Single nucleotide variant (synonymous variant)	Limb-girdle muscular dystrophy, recessive +1 more	GUncertain significance
Select item 336951	NM_001130987.2(DYSF):c.1493+13T>C	DYSF	Single nucleotide variant (intron variant)	Miyoshi myopathy +2 more	GConflicting classifications of pathogenicity
Select item 336950	NM_001130987.2(DYSF):c.1370C>T (p.Ala457Val)	DYSF (A457V +3 more)	Single nucleotide variant (missense variant)	Miyoshi myopathy +2 more	GConflicting classifications of pathogenicity
Select item 336949	NM_001130987.2(DYSF):c.1287C>T (p.Ala429=)	DYSF	Single nucleotide variant (synonymous variant)	Miyoshi muscular dystrophy 1 +3 more	GConflicting classifications of pathogenicity
Select item 336948	NM_001130987.2(DYSF):c.1276+13C>T	DYSF	Single nucleotide variant (intron variant)	Miyoshi myopathy +2 more	GConflicting classifications of pathogenicity
Select item 336947	NM_001130987.2(DYSF):c.1215C>T (p.Gly405=)	DYSF	Single nucleotide variant (synonymous variant)	Miyoshi myopathy +3 more	GConflicting classifications of pathogenicity
Select item 336946	NM_001130987.2(DYSF):c.759+10G>A	DYSF	Single nucleotide variant (intron variant)	Miyoshi myopathy +2 more	GConflicting classifications of pathogenicity
Select item 336945	NM_001130987.2(DYSF):c.718A>G (p.Thr240Ala)	DYSF (T208A +3 more)	Single nucleotide variant (missense variant)	Miyoshi myopathy +3 more	GConflicting classifications of pathogenicity
Select item 336944	NM_001130987.2(DYSF):c.558A>G (p.Thr186=)	DYSF	Single nucleotide variant (synonymous variant)	Miyoshi myopathy +2 more	GConflicting classifications of pathogenicity
Select item 336943	NM_001130987.2(DYSF):c.373A>G (p.Thr125Ala)	DYSF (T124A +1 more)	Single nucleotide variant (missense variant)	Limb-girdle muscular dystrophy, recessive +2 more	GUncertain significance
Select item 336942	NM_001130987.2(DYSF):c.225G>A (p.Thr75=)	DYSF	Single nucleotide variant (synonymous variant)	Miyoshi myopathy +4 more	GConflicting classifications of pathogenicity
Select item 304171	NM_213599.3(ANO5):c.*3473T>G	ANO5	Single nucleotide variant (3 prime UTR variant)	Miyoshi myopathy +2 more	GUncertain significance
Select item 304170	NM_213599.3(ANO5):c.*3481dup	ANO5	Duplication (3 prime UTR variant)	Miyoshi myopathy +5 more	GBenign/Likely benign
Select item 304169	NM_213599.3(ANO5):c.*3373C>A	ANO5	Single nucleotide variant (3 prime UTR variant)	Miyoshi myopathy +2 more	GUncertain significance
Select item 304168	NM_213599.3(ANO5):c.*3350T>G	ANO5	Single nucleotide variant (3 prime UTR variant)	Miyoshi myopathy +3 more	GConflicting classifications of pathogenicity
Select item 304167	NM_213599.3(ANO5):c.*3273G>C	ANO5	Single nucleotide variant (3 prime UTR variant)	Miyoshi myopathy +2 more	GUncertain significance
Select item 304166	NM_213599.3(ANO5):c.3251_3253del	ANO5	Deletion (3 prime UTR variant)	Miyoshi myopathy +1 more	GUncertain significance
Select item 304165	NM_213599.3(ANO5):c.*3206A>G	ANO5	Single nucleotide variant (3 prime UTR variant)	Miyoshi myopathy +2 more	GUncertain significance
Select item 304164	NM_213599.3(ANO5):c.*3196A>G	ANO5	Single nucleotide variant (3 prime UTR variant)	Limb-girdle muscular dystrophy, recessive +2 more	GUncertain significance
Select item 304163	NM_213599.3(ANO5):c.*3178C>G	ANO5	Single nucleotide variant (3 prime UTR variant)	ANO5-Related Muscle Diseases +6 more	GBenign
Select item 304162	NM_213599.3(ANO5):c.*3168C>T	ANO5	Single nucleotide variant (3 prime UTR variant)	Miyoshi myopathy +3 more	GConflicting classifications of pathogenicity
Select item 304161	NM_213599.3(ANO5):c.*3155T>C	ANO5	Single nucleotide variant (3 prime UTR variant)	Miyoshi myopathy +3 more	GConflicting classifications of pathogenicity
Select item 304160	NM_213599.3(ANO5):c.*3152G>A	ANO5	Single nucleotide variant (3 prime UTR variant)	not provided +6 more	GBenign/Likely benign
Select item 304159	NM_213599.3(ANO5):c.*3077G>C	ANO5	Single nucleotide variant (3 prime UTR variant)	Miyoshi myopathy +2 more	GUncertain significance
Select item 304158	NM_213599.3(ANO5):c.*2980T>C	ANO5	Single nucleotide variant (3 prime UTR variant)	Limb-girdle muscular dystrophy, recessive +2 more	GUncertain significance
Select item 304157	NM_213599.3(ANO5):c.*2947A>T	ANO5	Single nucleotide variant (3 prime UTR variant)	Miyoshi myopathy +2 more	GUncertain significance
Select item 304156	NM_213599.3(ANO5):c.*2869A>G	ANO5	Single nucleotide variant (3 prime UTR variant)	Miyoshi myopathy +3 more	GConflicting classifications of pathogenicity
Select item 304155	NM_213599.3(ANO5):c.*2784G>A	ANO5	Single nucleotide variant (3 prime UTR variant)	Miyoshi myopathy +2 more	GUncertain significance
Select item 304154	NM_213599.3(ANO5):c.*2752G>A	ANO5	Single nucleotide variant (3 prime UTR variant)	Miyoshi myopathy +2 more	GUncertain significance
Select item 304153	NM_213599.3(ANO5):c.*2704A>C	ANO5	Single nucleotide variant (3 prime UTR variant)	Miyoshi myopathy +2 more	GUncertain significance
Select item 304152	NM_213599.3(ANO5):c.*2568T>A	ANO5	Single nucleotide variant (3 prime UTR variant)	Miyoshi myopathy +2 more	GUncertain significance
Select item 304151	NM_213599.3(ANO5):c.*2357A>T	ANO5	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 304150	NM_213599.3(ANO5):c.*2296T>C	ANO5	Single nucleotide variant (3 prime UTR variant)	Miyoshi myopathy +2 more	GUncertain significance
Select item 304149	NM_213599.3(ANO5):c.*2293G>C	ANO5	Single nucleotide variant (3 prime UTR variant)	Miyoshi myopathy +2 more	GUncertain significance
Select item 304148	NM_213599.3(ANO5):c.*2274A>G	ANO5	Single nucleotide variant (3 prime UTR variant)	Miyoshi myopathy +1 more	GUncertain significance
Select item 304147	NM_213599.3(ANO5):c.*2252T>C	ANO5	Single nucleotide variant (3 prime UTR variant)	Miyoshi myopathy +2 more	GUncertain significance
Select item 304146	NM_213599.3(ANO5):c.*2207A>T	ANO5	Single nucleotide variant (3 prime UTR variant)	Miyoshi myopathy +2 more	GUncertain significance
Select item 304145	NM_213599.3(ANO5):c.*2095G>A	ANO5	Single nucleotide variant (3 prime UTR variant)	Miyoshi myopathy +3 more	GConflicting classifications of pathogenicity
Select item 304144	NM_213599.3(ANO5):c.*1967G>A	ANO5	Single nucleotide variant (3 prime UTR variant)	Miyoshi myopathy +2 more	GUncertain significance
Select item 304143	NM_213599.3(ANO5):c.*1941C>T	ANO5	Single nucleotide variant (3 prime UTR variant)	Miyoshi myopathy +2 more	GUncertain significance
Select item 304142	NM_213599.3(ANO5):c.*1890AAGA[1]	ANO5	Microsatellite (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 304141	NM_213599.3(ANO5):c.*1757A>C	ANO5	Single nucleotide variant (3 prime UTR variant)	Miyoshi myopathy +2 more	GUncertain significance
Select item 304140	NM_213599.3(ANO5):c.*1762del	ANO5	Deletion (3 prime UTR variant)	not provided +5 more	GBenign/Likely benign
Select item 304139	NM_213599.3(ANO5):c.*1712T>C	ANO5	Single nucleotide variant (3 prime UTR variant)	Miyoshi myopathy +2 more	GConflicting classifications of pathogenicity
Select item 304138	NM_213599.3(ANO5):c.*1674T>A	ANO5	Single nucleotide variant (3 prime UTR variant)	Miyoshi myopathy +2 more	GUncertain significance
Select item 304137	NM_213599.3(ANO5):c.1666_1669dup	ANO5	Duplication (3 prime UTR variant)	Miyoshi myopathy +1 more	GUncertain significance
Select item 304136	NM_213599.3(ANO5):c.*1661C>T	ANO5	Single nucleotide variant (3 prime UTR variant)	Miyoshi myopathy +3 more	GConflicting classifications of pathogenicity
Select item 304135	NM_213599.3(ANO5):c.*1647T>C	ANO5	Single nucleotide variant (3 prime UTR variant)	Miyoshi myopathy +2 more	GUncertain significance
Select item 304134	NM_213599.3(ANO5):c.*1521T>C	ANO5	Single nucleotide variant (3 prime UTR variant)	ANO5-Related Muscle Diseases +6 more	GBenign/Likely benign
Select item 304133	NM_213599.3(ANO5):c.*1429A>G	ANO5	Single nucleotide variant (3 prime UTR variant)	ANO5-Related Muscle Diseases +6 more	GBenign/Likely benign
Select item 304132	NM_213599.3(ANO5):c.*1328C>T	ANO5	Single nucleotide variant (3 prime UTR variant)	Miyoshi myopathy +3 more	GConflicting classifications of pathogenicity
Select item 304131	NM_213599.3(ANO5):c.*1313A>G	ANO5	Single nucleotide variant (3 prime UTR variant)	ANO5-Related Muscle Diseases +6 more	GBenign/Likely benign
Select item 304130	NM_213599.3(ANO5):c.*1286G>T	ANO5	Single nucleotide variant (3 prime UTR variant)	ANO5-Related Muscle Diseases +6 more	GBenign/Likely benign
Select item 304129	NM_213599.3(ANO5):c.*1248A>G	ANO5	Single nucleotide variant (3 prime UTR variant)	Miyoshi myopathy +2 more	GUncertain significance
Select item 304128	NM_213599.3(ANO5):c.*1119C>T	ANO5	Single nucleotide variant (3 prime UTR variant)	Limb-girdle muscular dystrophy, recessive +2 more	GUncertain significance
Select item 304127	NM_213599.3(ANO5):c.*1095G>A	ANO5	Single nucleotide variant (3 prime UTR variant)	Miyoshi myopathy +2 more	GUncertain significance
Select item 304126	NM_213599.3(ANO5):c.*930C>T	ANO5	Single nucleotide variant (3 prime UTR variant)	Limb-girdle muscular dystrophy, recessive +3 more	GConflicting classifications of pathogenicity
Select item 304125	NM_213599.3(ANO5):c.*817A>G	ANO5	Single nucleotide variant (3 prime UTR variant)	Limb-girdle muscular dystrophy, recessive +2 more	GUncertain significance
Select item 304124	NM_213599.3(ANO5):c.*811A>G	ANO5	Single nucleotide variant (3 prime UTR variant)	Miyoshi myopathy +2 more	GUncertain significance
Select item 304123	NM_213599.3(ANO5):c.*622G>A	ANO5	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GUncertain significance
Select item 304122	NM_213599.3(ANO5):c.*554C>T	ANO5	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 304121	NM_213599.3(ANO5):c.*496A>G	ANO5	Single nucleotide variant (3 prime UTR variant)	not provided +6 more	GBenign/Likely benign
Select item 304120	NM_213599.3(ANO5):c.*305A>T	ANO5	Single nucleotide variant (3 prime UTR variant)	Miyoshi myopathy +2 more	GUncertain significance
Select item 304119	NM_213599.3(ANO5):c.*279G>A	ANO5	Single nucleotide variant (3 prime UTR variant)	Miyoshi myopathy +2 more	GConflicting classifications of pathogenicity
Select item 304118	NM_213599.3(ANO5):c.*220G>A	ANO5	Single nucleotide variant (3 prime UTR variant)	Limb-girdle muscular dystrophy, recessive +2 more	GUncertain significance
Select item 304117	NM_213599.3(ANO5):c.*185A>G	ANO5	Single nucleotide variant (3 prime UTR variant)	Limb-girdle muscular dystrophy, recessive +2 more	GUncertain significance

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