List of variants in gene DYSF reported as likely pathogenic by Invitae

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 101

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HGVS	dbSNP	gnomAD frequency
NM_001130987.2(DYSF):c.3173G>A (p.Arg1058Gln)	rs372226487	0.00004
NM_001130987.2(DYSF):c.3190C>T (p.Arg1064Cys)	rs752810646	0.00004
NM_001130987.2(DYSF):c.3170G>A (p.Arg1057Gln)	rs149617331	0.00003
NM_001130987.2(DYSF):c.4079G>A (p.Arg1360Gln)	rs747583441	0.00003
NM_001130987.2(DYSF):c.2930G>A (p.Arg977Gln)	rs752689148	0.00002
NM_001130987.2(DYSF):c.3176G>A (p.Arg1059His)	rs754763074	0.00002
NM_001130987.2(DYSF):c.1609G>A (p.Gly537Arg)	rs121908962	0.00001
NM_001130987.2(DYSF):c.2409+1G>A	rs151317754	0.00001
NM_001130987.2(DYSF):c.2426C>T (p.Pro809Leu)	rs121908956	0.00001
NM_001130987.2(DYSF):c.4387+2T>C	rs759939755	0.00001
NM_001130987.2(DYSF):c.4528-2A>G	rs1213965862	0.00001
NM_001130987.2(DYSF):c.4631A>G (p.Tyr1544Cys)	rs757820496	0.00001
NM_001130987.2(DYSF):c.4911+1G>T	rs777216777	0.00001
NM_001130987.2(DYSF):c.5784+1G>A	rs909564120	0.00001
NM_001130987.2(DYSF):c.5885-1G>C	rs771257070	0.00001
NM_001130987.2(DYSF):c.6313G>A (p.Ala2105Thr)	rs746663568	0.00001
NM_001130987.2(DYSF):c.889-2A>G	rs934428561	0.00001
NM_001130987.2(DYSF):c.992G>A (p.Gly331Glu)	rs1258728780	0.00001
NC_000002.11:g.(?_71693963)_(71744179_?)dup
NC_000002.11:g.(?_71755408)_(71755551_?)dup
NC_000002.11:g.(?_71816713)_(71817428_?)dup
NC_000002.11:g.(?_71913574)_(71913729_?)del
NC_000002.12:g.(?_71511797)_(71539257_?)dup
NC_000002.12:g.(?_71520168)_(71549401_?)dup
NC_000002.12:g.(?_71549340)_(71549401_?)del
NM_001130987.2(DYSF):c.1003-2A>G	rs1559065297
NM_001130987.2(DYSF):c.1055G>C (p.Trp352Ser)	rs2152742210
NM_001130987.2(DYSF):c.1150-42_1155del	rs1573743003
NM_001130987.2(DYSF):c.1150-43_1155delinsA	rs1573743003
NM_001130987.2(DYSF):c.1272_1276+3dup
NM_001130987.2(DYSF):c.1276+5G>C	rs766433603
NM_001130987.2(DYSF):c.1276_1276+3del
NM_001130987.2(DYSF):c.1381-2del
NM_001130987.2(DYSF):c.139T>C (p.Trp47Arg)	rs2082832384
NM_001130987.2(DYSF):c.1475_1477del (p.Arg492del)	rs2152761340
NM_001130987.2(DYSF):c.1493+1G>A	rs1553536007
NM_001130987.2(DYSF):c.1494-1G>A	rs398123768
NM_001130987.2(DYSF):c.157T>A (p.Trp53Arg)	rs1553508863
NM_001130987.2(DYSF):c.1609G>T (p.Gly537Trp)
NM_001130987.2(DYSF):c.1806+2T>G	rs2090962038
NM_001130987.2(DYSF):c.1985-2del	rs774047700
NM_001130987.2(DYSF):c.209T>G (p.Val70Gly)	rs886042878
NM_001130987.2(DYSF):c.2109+1G>C	rs2152792714
NM_001130987.2(DYSF):c.2409+1G>T
NM_001130987.2(DYSF):c.2410-2A>G	rs1242016118
NM_001130987.2(DYSF):c.247G>C (p.Gly83Arg)
NM_001130987.2(DYSF):c.2697+5G>C	rs2092213253
NM_001130987.2(DYSF):c.2865-1G>A	rs2152813916
NM_001130987.2(DYSF):c.2930G>C (p.Arg977Pro)	rs752689148
NM_001130987.2(DYSF):c.2980-1G>C	rs2092340224
NM_001130987.2(DYSF):c.3076G>C (p.Asp1026His)
NM_001130987.2(DYSF):c.3086-2A>G	rs2092361815
NM_001130987.2(DYSF):c.3148A>G (p.Lys1050Glu)	rs2092366383
NM_001130987.2(DYSF):c.3150G>C (p.Lys1050Asn)
NM_001130987.2(DYSF):c.3190C>A (p.Arg1064Ser)
NM_001130987.2(DYSF):c.3334T>C (p.Trp1112Arg)
NM_001130987.2(DYSF):c.3402+1G>A
NM_001130987.2(DYSF):c.3403-109_3436del
NM_001130987.2(DYSF):c.346-2A>C
NM_001130987.2(DYSF):c.3574+1G>A	rs2152843484
NM_001130987.2(DYSF):c.3737T>C (p.Leu1246Pro)	rs2152855991
NM_001130987.2(DYSF):c.3856G>A (p.Gly1286Arg)	rs2093531900
NM_001130987.2(DYSF):c.3898-1G>C	rs2152859973
NM_001130987.2(DYSF):c.3898-2A>C	rs989599402
NM_001130987.2(DYSF):c.3958-1G>A
NM_001130987.2(DYSF):c.4193T>C (p.Phe1398Ser)	rs2093763492
NM_001130987.2(DYSF):c.4387+2T>G
NM_001130987.2(DYSF):c.4528-2A>T
NM_001130987.2(DYSF):c.4528-2del
NM_001130987.2(DYSF):c.4528-5C>G	rs774448845
NM_001130987.2(DYSF):c.4556A>C (p.Lys1519Thr)	rs398123788
NM_001130987.2(DYSF):c.4556A>T (p.Lys1519Ile)
NM_001130987.2(DYSF):c.460+2_460+3del
NM_001130987.2(DYSF):c.5004-2A>G	rs2094956322
NM_001130987.2(DYSF):c.5086G>A (p.Glu1696Lys)
NM_001130987.2(DYSF):c.5174+2T>C	rs1553412826
NM_001130987.2(DYSF):c.5175-2A>G
NM_001130987.2(DYSF):c.5210C>G (p.Pro1737Arg)	rs776452710
NM_001130987.2(DYSF):c.5420G>C (p.Arg1807Pro)
NM_001130987.2(DYSF):c.5546+1G>A	rs398123793
NM_001130987.2(DYSF):c.5626G>C (p.Asp1876His)
NM_001130987.2(DYSF):c.5635G>A (p.Val1879Met)	rs886042880
NM_001130987.2(DYSF):c.5643-2A>C
NM_001130987.2(DYSF):c.5681A>T (p.Asp1894Val)	rs1553416071
NM_001130987.2(DYSF):c.5711G>A (p.Gly1904Asp)	rs1024524968
NM_001130987.2(DYSF):c.5729T>C (p.Phe1910Ser)	rs2095084796
NM_001130987.2(DYSF):c.5785-1G>C	rs751473506
NM_001130987.2(DYSF):c.5785-2A>C	rs2152961243
NM_001130987.2(DYSF):c.5858A>G (p.Asp1953Gly)
NM_001130987.2(DYSF):c.5885-1G>A
NM_001130987.2(DYSF):c.5921C>T (p.Pro1974Leu)	rs1573176526
NM_001130987.2(DYSF):c.6173+1G>A
NM_001130987.2(DYSF):c.6173+2del
NM_001130987.2(DYSF):c.6305T>G (p.Phe2102Cys)
NM_001130987.2(DYSF):c.754_759+5del	rs1433612344
NM_001130987.2(DYSF):c.759G>C (p.Gln253His)	rs886044472
NM_001130987.2(DYSF):c.796G>T (p.Gly266Trp)	rs1573657614
NM_001130987.2(DYSF):c.797G>C (p.Gly266Ala)
NM_001130987.2(DYSF):c.875C>T (p.Pro292Leu)
NM_001130987.2(DYSF):c.952-2A>G	rs1553522730
NM_003494.4(DYSF):c.1522+1G>A	rs1473130799

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