ClinVar for MedGen (Select 419874) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3729499	NM_001130987.2(DYSF):c.3927+1G>A	DYSF	Single nucleotide variant (splice donor variant)	Qualitative or quantitative defects of dysferlin	GLikely pathogenic
Select item 3729214	NM_001130987.2(DYSF):c.2409+12T>G	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3728455	NM_001130987.2(DYSF):c.6205_6206del (p.Ser2069fs)	DYSF (S2047fs +13 more)	Deletion (frameshift variant)	Qualitative or quantitative defects of dysferlin	GPathogenic
Select item 3727105	NM_001130987.2(DYSF):c.5778C>G (p.Ala1926=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3722804	NM_001130987.2(DYSF):c.1984G>T (p.Gly662Trp)	DYSF (G675W +7 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin	GUncertain significance
Select item 3721795	NM_001130987.2(DYSF):c.4626+13T>G	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3720345	NM_001130987.2(DYSF):c.4999G>A (p.Gly1667Arg)	DYSF (G1614R +13 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin	GPathogenic
Select item 3719835	NM_001130987.2(DYSF):c.239+16G>T	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3715020	NM_001130987.2(DYSF):c.3882C>T (p.Leu1294=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3713912	NM_001130987.2(DYSF):c.3228+1G>T	DYSF	Single nucleotide variant (splice donor variant)	Qualitative or quantitative defects of dysferlin	GPathogenic
Select item 3713822	NM_001130987.2(DYSF):c.1984+14C>G	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3710582	NM_001130987.2(DYSF):c.1150-13G>C	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3710258	NM_001130987.2(DYSF):c.1693-14G>A	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3709596	NM_001130987.2(DYSF):c.420G>A (p.Leu140=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3709360	NM_001130987.2(DYSF):c.1916G>A (p.Gly639Glu)	DYSF (G621E +7 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin	GLikely pathogenic
Select item 3707296	NM_001130987.2(DYSF):c.2109+16C>T	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3706825	NM_001130987.2(DYSF):c.3575-18C>A	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3706118	NM_001130987.2(DYSF):c.4911+12A>G	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3705409	NM_001130987.2(DYSF):c.843C>T (p.Thr281=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3705297	NM_001130987.2(DYSF):c.5175-11T>A	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3704899	NM_001130987.2(DYSF):c.2697+7A>T	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3702957	NM_001130987.2(DYSF):c.1656C>T (p.Gly552=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3702772	NM_001130987.2(DYSF):c.4221+3G>A	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GUncertain significance
Select item 3702303	NM_001130987.2(DYSF):c.4545T>C (p.Asp1515=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3701678	NM_001130987.2(DYSF):c.135del (p.Val46fs)	DYSF (V45fs +1 more)	Deletion (frameshift variant)	Qualitative or quantitative defects of dysferlin	GPathogenic
Select item 3698600	NM_001130987.2(DYSF):c.1373G>A (p.Gly458Glu)	DYSF (G426E +3 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin	GLikely pathogenic
Select item 3697856	NM_001130987.2(DYSF):c.6000G>A (p.Glu2000=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3695749	NM_001130987.2(DYSF):c.5785-824C>A	DYSF, LOC110121121	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3695328	NM_001130987.2(DYSF):c.1034-5C>T	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3694210	NM_001130987.2(DYSF):c.5885-3_5885-2insCAAAAACC	DYSF	Insertion (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3694209	NM_001130987.2(DYSF):c.5885-7_5885-6insCAAAAAC	DYSF	Insertion (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3692706	NM_001130987.2(DYSF):c.160G>A (p.Asp54Asn)	DYSF (D54N +1 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin	GUncertain significance
Select item 3687520	NM_001130987.2(DYSF):c.5442G>A (p.Gln1814=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3685204	NM_001130987.2(DYSF):c.636G>C (p.Pro212=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3684626	NM_001130987.2(DYSF):c.1222C>T (p.Leu408=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3684221	NM_001130987.2(DYSF):c.2426C>A (p.Pro809Gln)	DYSF (P777Q +7 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin	GLikely pathogenic
Select item 3684114	NM_001130987.2(DYSF):c.3229-1G>A	DYSF	Single nucleotide variant (splice acceptor variant)	Qualitative or quantitative defects of dysferlin	GLikely pathogenic
Select item 3683062	NM_001130987.2(DYSF):c.2865-10T>G	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3680158	NM_001130987.2(DYSF):c.5885-13C>T	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3679090	NM_001130987.2(DYSF):c.2940A>G (p.Gly980=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3678664	NM_001130987.2(DYSF):c.5003+11G>T	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3677022	NM_001130987.2(DYSF):c.5132C>T (p.Ser1711Phe)	DYSF (S1689F +13 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +1 more	GConflicting classifications of pathogenicity
Select item 3676826	NM_001130987.2(DYSF):c.3756+10C>T	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3675290	NM_001130987.2(DYSF):c.5885-13C>A	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3674707	NM_001130987.2(DYSF):c.4116C>T (p.Ser1372=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3673615	NM_001130987.2(DYSF):c.4617C>T (p.Asp1539=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3672518	NM_001130987.2(DYSF):c.5643-12A>C	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3671591	NM_001130987.2(DYSF):c.5886C>T (p.Gly1962=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3669362	NM_001130987.2(DYSF):c.2320C>T (p.Leu774=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3667833	NM_001130987.2(DYSF):c.3930G>A (p.Val1310=)	DYSF, LOC122787137	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3666886	NM_001130987.2(DYSF):c.1493+5G>C	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GPathogenic
Select item 3665449	NM_001130987.2(DYSF):c.6321+20_6321+21del	DYSF	Deletion (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3665380	NM_001130987.2(DYSF):c.1203C>G (p.Leu401=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3662649	NM_001130987.2(DYSF):c.584del (p.Gln195fs)	DYSF (Q164fs +3 more)	Deletion (frameshift variant)	Qualitative or quantitative defects of dysferlin	GPathogenic
Select item 3661846	NM_001130987.2(DYSF):c.379C>T (p.Leu127=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3661669	NM_001130987.2(DYSF):c.2350_2351insTGCAGCTCTGGAG (p.Pro784fs)	DYSF (P797fs +7 more)	Insertion (frameshift variant)	Qualitative or quantitative defects of dysferlin	GPathogenic
Select item 3661397	NM_001130987.2(DYSF):c.799del (p.Gly266_Val267insTer)	DYSF	Deletion (nonsense)	Qualitative or quantitative defects of dysferlin	GPathogenic
Select item 3658478	NM_001130987.2(DYSF):c.6063+19G>T	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3657890	NM_001130987.2(DYSF):c.6320_6321delinsTC (p.Pro2107Leu)	DYSF (P2089L +13 more)	Indel (missense variant)	Qualitative or quantitative defects of dysferlin	GUncertain significance
Select item 3652572	NM_001130987.2(DYSF):c.1602C>T (p.Pro534=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3652280	NM_001130987.2(DYSF):c.1117_1126del (p.Leu373fs)	DYSF (L341fs +3 more)	Deletion (frameshift variant)	Qualitative or quantitative defects of dysferlin	GPathogenic
Select item 3651092	NM_001130987.2(DYSF):c.1577-1696T>C	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3650362	NM_001130987.2(DYSF):c.4251C>T (p.Pro1417=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3649891	NM_001130987.2(DYSF):c.5087A>G (p.Glu1696Gly)	DYSF (E1644G +13 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin	GUncertain significance
Select item 3649295	NM_001130987.2(DYSF):c.3378_3385delinsCACTGGAGAAGACGGGGCC (p.Val1127fs)	DYSF (V1126fs +7 more)	Indel (frameshift variant)	Qualitative or quantitative defects of dysferlin	GPathogenic
Select item 3649102	NM_001130987.2(DYSF):c.5557del (p.Arg1853fs)	DYSF (R1800fs +13 more)	Deletion (frameshift variant)	Qualitative or quantitative defects of dysferlin	GPathogenic
Select item 3647146	NM_001130987.2(DYSF):c.975G>A (p.Arg325=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3647048	NM_001130987.2(DYSF):c.3085+11T>C	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3646992	NM_001130987.2(DYSF):c.5373G>T (p.Leu1791=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3646942	NM_001130987.2(DYSF):c.3898-9T>C	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3645498	NM_001130987.2(DYSF):c.346-7_346-6del	DYSF	Microsatellite (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3645447	NM_001130987.2(DYSF):c.5457+13C>T	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3644877	NM_001130987.2(DYSF):c.1054T>G (p.Trp352Gly)	DYSF (W320G +3 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin	GLikely pathogenic
Select item 3644742	NM_001130987.2(DYSF):c.5760G>A (p.Glu1920=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3644716	NM_001130987.2(DYSF):c.3975G>T (p.Leu1325=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3644701	NM_001130987.2(DYSF):c.798G>C (p.Gly266=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3643408	NM_001130987.2(DYSF):c.1002+13T>A	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3643271	NM_001130987.2(DYSF):c.3927+12T>C	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3641335	NM_001130987.2(DYSF):c.5032C>T (p.Leu1678=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3640496	NM_001130987.2(DYSF):c.4059+15C>T	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3638185	NM_001130987.2(DYSF):c.6027C>G (p.Pro2009=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3637384	NM_001130987.2(DYSF):c.6322-5_6322-4del	DYSF	Deletion (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3633116	NM_001130987.2(DYSF):c.1198C>T (p.Leu400=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3633105	NM_001130987.2(DYSF):c.2546_2547insCAGTCTGGAAAGTGAGGAGCGTCTCCGCCCGGCCGCCATCCCATCTAGGAAGTGAGGAGCACCTCTTCCCGGCCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAATTGTGGGAAGCT (p.Leu849_Gln850insSerLeuGluSerGluGluArgLeuArgProAlaAlaIleProSerArgLysTer)	DYSF	Insertion (nonsense)	Qualitative or quantitative defects of dysferlin	GPathogenic
Select item 3630762	NM_001130987.2(DYSF):c.2349C>T (p.Leu783=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3630429	NM_001130987.2(DYSF):c.2679G>A (p.Leu893=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3626279	NM_001130987.2(DYSF):c.1611G>A (p.Gly537=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3626204	NM_001130987.2(DYSF):c.3615G>A (p.Lys1205=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3625737	NM_001130987.2(DYSF):c.4584A>G (p.Glu1528=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3624752	NM_001130987.2(DYSF):c.2698-18T>C	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3622714	NM_001130987.2(DYSF):c.460+18G>T	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3622371	NM_001130987.2(DYSF):c.1277-2A>G	DYSF	Single nucleotide variant (splice acceptor variant)	Qualitative or quantitative defects of dysferlin	GPathogenic
Select item 3621140	NM_001130987.2(DYSF):c.2773G>T (p.Val925Phe)	DYSF (V893F +7 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin	GUncertain significance
Select item 3620425	NM_001130987.2(DYSF):c.3090G>A (p.Trp1030Ter)	DYSF (W1012* +7 more)	Single nucleotide variant (nonsense)	Qualitative or quantitative defects of dysferlin	GPathogenic
Select item 3618577	NM_001130987.2(DYSF):c.4912-12CTC[2]	DYSF	Microsatellite (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3615865	NM_001130987.2(DYSF):c.2088G>T (p.Leu696=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3615146	NM_001130987.2(DYSF):c.5421G>A (p.Arg1807=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3614834	NM_003494.4(DYSF):c.1503G>A (p.Lys501=)	DYSF	Single nucleotide variant (synonymous variant +1 more)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3614195	NM_001130987.2(DYSF):c.5685G>A (p.Val1895=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3613087	NM_001130987.2(DYSF):c.147+14del	DYSF	Deletion (intron variant)	Qualitative or quantitative defects of dysferlin	GBenign

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