ClinVar for Gene (Select 8291) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3250366	NM_001130987.2(DYSF):c.3756+6T>A	DYSF	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B +1 more	GUncertain significance
Select item 3247377	NC_000002.11:g.(?_71793586)_(71797845_?)del	DYSF	Deletion	Qualitative or quantitative defects of dysferlin	GPathogenic
Select item 3247376	NC_000002.11:g.(?_71795061)_(71801521_?)dup	DYSF	Duplication	Qualitative or quantitative defects of dysferlin	GUncertain significance
Select item 3247375	NC_000002.11:g.(?_71740826)_(71913622_?)del	DYSF	Deletion	Qualitative or quantitative defects of dysferlin	GPathogenic
Select item 3247374	NC_000002.11:g.(?_71895864)_(71901446_?)del	DYSF	Deletion	Qualitative or quantitative defects of dysferlin	GPathogenic
Select item 3247373	NC_000002.11:g.(?_71730344)_(71762441_?)del	DYSF	Deletion	Qualitative or quantitative defects of dysferlin	GLikely pathogenic
Select item 3247372	NC_000002.11:g.(?_71795061)_(71801521_?)del	DYSF	Deletion	Qualitative or quantitative defects of dysferlin	GPathogenic
Select item 3247371	NC_000002.11:g.(?_71783075)_(71817438_?)del	DYSF	Deletion	Qualitative or quantitative defects of dysferlin	GPathogenic
Select item 3247370	NC_000002.11:g.(?_71762131)_(71766389_?)del	DYSF	Deletion	Qualitative or quantitative defects of dysferlin	GPathogenic
Select item 3247368	NC_000002.11:g.(?_71908111)_(71908260_?)del	DYSF	Deletion	Qualitative or quantitative defects of dysferlin	GPathogenic
Select item 3247367	NC_000002.11:g.(?_71906167)_(71906385_?)del	DYSF	Deletion	Qualitative or quantitative defects of dysferlin	GPathogenic
Select item 3247366	NC_000002.11:g.(?_71708989)_(71709120_?)del	DYSF	Deletion	Qualitative or quantitative defects of dysferlin	GPathogenic
Select item 3247365	NC_000002.11:g.(?_71783075)_(71783221_?)del	DYSF	Deletion	Qualitative or quantitative defects of dysferlin	GPathogenic
Select item 3241385	NM_001130987.2(DYSF):c.947del (p.Ile316fs)	DYSF (I284fs +3 more)	Deletion (frameshift variant)	Miyoshi muscular dystrophy 1	GLikely pathogenic
Select item 3241384	NM_001130987.2(DYSF):c.5562T>A (p.Cys1854Ter)	DYSF (C1801* +13 more)	Single nucleotide variant (nonsense)	Miyoshi muscular dystrophy 1	GLikely pathogenic
Select item 3241383	NM_001130987.2(DYSF):c.1914C>G (p.Tyr638Ter)	DYSF (Y606* +7 more)	Single nucleotide variant (nonsense)	Miyoshi muscular dystrophy 1	GLikely pathogenic
Select item 3241382	NM_001130987.2(DYSF):c.951+2T>C	DYSF	Single nucleotide variant (splice donor variant)	Miyoshi muscular dystrophy 1	GLikely pathogenic
Select item 3241381	NM_001130987.2(DYSF):c.2964del (p.Asp988fs)	DYSF (D1001fs +7 more)	Deletion (frameshift variant)	Miyoshi muscular dystrophy 1	GLikely pathogenic
Select item 3241380	NM_001130987.2(DYSF):c.1494-1G>C	DYSF	Single nucleotide variant (splice acceptor variant)	Miyoshi muscular dystrophy 1	GLikely pathogenic
Select item 3241379	NM_001130987.2(DYSF):c.3228+2T>C	DYSF	Single nucleotide variant (splice donor variant)	Miyoshi muscular dystrophy 1	GLikely pathogenic
Select item 3241378	NM_001130987.2(DYSF):c.6321+1G>C	DYSF	Single nucleotide variant (splice donor variant)	Miyoshi muscular dystrophy 1	GLikely pathogenic
Select item 3241377	NM_001130987.2(DYSF):c.1902C>A (p.Ser634Arg)	DYSF (S602R +7 more)	Single nucleotide variant (missense variant)	Miyoshi muscular dystrophy 1	GLikely pathogenic
Select item 3241376	NM_001130987.2(DYSF):c.2864+1G>C	DYSF	Single nucleotide variant (splice donor variant)	Miyoshi muscular dystrophy 1	GPathogenic
Select item 3241375	NM_001130987.2(DYSF):c.1709_1722del (p.Tyr570fs)	DYSF (Y538fs +7 more)	Deletion (frameshift variant)	Miyoshi muscular dystrophy 1	GPathogenic
Select item 3241374	NM_001130987.2(DYSF):c.5175-1G>A	DYSF	Single nucleotide variant (splice acceptor variant)	Miyoshi muscular dystrophy 1	GLikely pathogenic
Select item 3241373	NM_001130987.2(DYSF):c.4771del (p.Tyr1591fs)	DYSF (Y1538fs +13 more)	Deletion (frameshift variant)	Miyoshi muscular dystrophy 1	GLikely pathogenic
Select item 3241372	NM_001130987.2(DYSF):c.3164_3165del (p.His1055fs)	DYSF (H1023fs +7 more)	Microsatellite (frameshift variant)	Miyoshi muscular dystrophy 1	GLikely pathogenic
Select item 3241371	NM_001130987.2(DYSF):c.5981G>A (p.Trp1994Ter)	DYSF (W1941* +13 more)	Single nucleotide variant (nonsense)	Miyoshi muscular dystrophy 1	GPathogenic
Select item 3239662	NM_001130987.2(DYSF):c.1003-1G>A	DYSF	Single nucleotide variant (splice acceptor variant)	Miyoshi muscular dystrophy 1 +1 more	GPathogenic/Likely pathogenic
Select item 3235265	NM_001130987.2(DYSF):c.6021G>T (p.Trp2007Cys)	DYSF (W1954C +13 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B	GUncertain significance
Select item 3233957	NM_001130987.2(DYSF):c.5686C>T (p.His1896Tyr)	DYSF (H1843Y +13 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086648	NM_001130987.2(DYSF):c.1085C>T (p.Ser362Phe)	DYSF (S361F +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086647	NM_001130987.2(DYSF):c.6136G>A (p.Asp2046Asn)	DYSF (D1993N +13 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086646	NM_001130987.2(DYSF):c.5515C>T (p.Pro1839Ser)	DYSF (P1800S +13 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086645	NM_001130987.2(DYSF):c.5479G>A (p.Asp1827Asn)	DYSF (D1789N +13 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086644	NM_001130987.2(DYSF):c.580G>T (p.Asp194Tyr)	DYSF (D163Y +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086641	NM_001130987.2(DYSF):c.3586A>G (p.Ile1196Val)	DYSF (I1164V +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086640	NM_001130987.2(DYSF):c.3581A>G (p.Tyr1194Cys)	DYSF (Y1162C +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086638	NM_001130987.2(DYSF):c.3151A>G (p.Met1051Val)	DYSF (M1050V +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086637	NM_001130987.2(DYSF):c.2945A>G (p.Gln982Arg)	DYSF (Q951R +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086636	NM_001130987.2(DYSF):c.2887G>A (p.Gly963Ser)	DYSF (G932S +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086635	NM_001130987.2(DYSF):c.2173T>A (p.Ser725Thr)	DYSF (S694T +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086634	NM_001130987.2(DYSF):c.2071G>A (p.Glu691Lys)	DYSF (E659K +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086632	NM_001130987.2(DYSF):c.1150C>A (p.Leu384Met)	DYSF (L383M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3069154	NM_001130987.2(DYSF):c.3838_3841del (p.Arg1280fs)	DYSF (R1248fs +7 more)	Deletion (frameshift variant)	Qualitative or quantitative defects of dysferlin	GPathogenic
Select item 3062659	GRCh37/hg19 2p13.3-12(chr2:71076472-76368354)x1	ACTG2, ALMS1 +60 more	Copy number loss	not specified	GLikely pathogenic
Select item 3062053	NM_001130987.2(DYSF):c.5247_5248del (p.Arg1749fs)	DYSF (R1696fs +13 more)	Microsatellite (frameshift variant)	Qualitative or quantitative defects of dysferlin	GPathogenic
Select item 3059351	NM_001130987.2(DYSF):c.1493+49G>A	DYSF	Single nucleotide variant (intron variant)	DYSF-related disorder	GLikely benign
Select item 3042859	NM_001130987.2(DYSF):c.2406G>A (p.Glu802=)	DYSF	Single nucleotide variant (synonymous variant)	DYSF-related disorder	GLikely benign
Select item 3042185	NM_001130987.2(DYSF):c.543G>A (p.Pro181=)	DYSF	Single nucleotide variant (synonymous variant +1 more)	DYSF-related disorder	GLikely benign
Select item 3038623	NM_001130987.2(DYSF):c.1493+48C>T	DYSF	Single nucleotide variant (intron variant)	DYSF-related disorder	GLikely benign
Select item 3038112	NM_001130987.2(DYSF):c.462C>T (p.Gly154=)	DYSF	Single nucleotide variant (synonymous variant +1 more)	DYSF-related disorder	GLikely benign
Select item 3036739	NM_001130987.2(DYSF):c.2217-21C>A	DYSF	Single nucleotide variant (intron variant)	DYSF-related disorder	GLikely benign
Select item 3034978	NM_001130987.2(DYSF):c.4911+4A>C	DYSF	Single nucleotide variant (intron variant)	DYSF-related disorder	GLikely benign
Select item 3031574	NM_001130987.2(DYSF):c.6153C>T (p.Asn2051=)	DYSF	Single nucleotide variant (synonymous variant)	DYSF-related disorder	GLikely benign
Select item 3029502	NM_001130987.2(DYSF):c.5003+1241A>G	DYSF	Single nucleotide variant (intron variant)	DYSF-related disorder	GLikely benign
Select item 3027186	NM_001130987.2(DYSF):c.4950A>G (p.Ser1650=)	DYSF	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3024135	NM_001130987.2(DYSF):c.2864+1dup	DYSF	Duplication (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B	GLikely pathogenic
Select item 3023834	NM_001130987.2(DYSF):c.1635C>A (p.Gly545=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3022994	NM_001130987.2(DYSF):c.2616C>T (p.Val872=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3021827	NM_001130987.2(DYSF):c.3756+18C>T	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3021650	NM_003494.4(DYSF):c.88+20C>T	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3020484	NM_001130987.2(DYSF):c.3859del (p.Glu1287fs)	DYSF (E1255fs +7 more)	Deletion (frameshift variant)	Qualitative or quantitative defects of dysferlin	GPathogenic
Select item 3019729	NM_001130987.2(DYSF):c.239+14A>T	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3019643	NM_001130987.2(DYSF):c.3255G>A (p.Glu1085=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3019188	NM_001130987.2(DYSF):c.3201T>C (p.Asp1067=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3018862	NM_001130987.2(DYSF):c.2745G>T (p.Thr915=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3018753	NM_001130987.2(DYSF):c.3396G>T (p.Gly1132=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3018662	NM_001130987.2(DYSF):c.2520C>T (p.Asn840=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3018265	NM_001130987.2(DYSF):c.2697+17C>T	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3018179	NM_001130987.2(DYSF):c.2823C>T (p.Gly941=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3017299	NM_001130987.2(DYSF):c.5958G>A (p.Leu1986=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3016502	NM_001130987.2(DYSF):c.2980-19T>C	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3016021	NM_001130987.2(DYSF):c.1974A>G (p.Ala658=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3014866	NM_001130987.2(DYSF):c.1131G>A (p.Gly377=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3014214	NM_001130987.2(DYSF):c.889-9A>G	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3014101	NM_001130987.2(DYSF):c.2864+11G>T	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3013423	NM_001130987.2(DYSF):c.2697+15_2697+17dup	DYSF	Duplication (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3013112	NM_001130987.2(DYSF):c.6114G>A (p.Glu2038=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3012972	NM_001130987.2(DYSF):c.952-6C>T	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3012835	NM_001130987.2(DYSF):c.5991C>G (p.Ser1997=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3012800	NM_001130987.2(DYSF):c.3496+18G>C	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3012499	NM_001130987.2(DYSF):c.4060-12C>T	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3011810	NM_001130987.2(DYSF):c.3927+10G>C	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3009993	NM_001130987.2(DYSF):c.5003+11G>A	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3009935	NM_001130987.2(DYSF):c.3342T>A (p.Arg1114=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3009659	NM_001130987.2(DYSF):c.6279C>T (p.Phe2093=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3008461	NM_001130987.2(DYSF):c.2781del (p.Lys928fs)	DYSF (K911fs +7 more)	Deletion (frameshift variant)	Qualitative or quantitative defects of dysferlin	GPathogenic
Select item 3008193	NM_001130987.2(DYSF):c.3574+15G>C	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3007921	NM_001130987.2(DYSF):c.1536G>T (p.Leu512=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3007310	NM_001130987.2(DYSF):c.828C>A (p.Thr276=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3007023	NM_001130987.2(DYSF):c.2151G>A (p.Gln717=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3006274	NM_001130987.2(DYSF):c.6064-14C>T	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3005453	NM_001130987.2(DYSF):c.5004-13G>C	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3005031	NM_001130987.2(DYSF):c.2481G>A (p.Val827=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3004967	NM_001130987.2(DYSF):c.1577-1630G>A	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3004556	NM_001130987.2(DYSF):c.239+15G>T	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3004500	NM_001130987.2(DYSF):c.1794C>T (p.Ile598=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3004417	NM_001130987.2(DYSF):c.797G>C (p.Gly266Ala)	DYSF (G234A +3 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin	GLikely pathogenic
Select item 3004012	NM_001130987.2(DYSF):c.4464+17C>T	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign

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