8291[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	See cases	GPathogenic
Select item 144474	GRCh38/hg38 2p13.3-13.2(chr2:70709155-72346899)x3	ADD2, ANKRD53 +48 more	Copy number gain	See cases	GUncertain significance
Select item 679856	NM_003494.3(DYSF):c.-497T>C	DYSF	Single nucleotide variant	not provided	GBenign
Select item 898377	NM_003494.4(DYSF):c.-327G>T	DYSF	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 898378	NM_003494.4(DYSF):c.-278G>C	DYSF	Single nucleotide variant (5 prime UTR variant)	Qualitative or quantitative defects of dysferlin	GUncertain significance
Select item 895388	NM_003494.4(DYSF):c.-274T>G	DYSF	Single nucleotide variant (5 prime UTR variant)	Qualitative or quantitative defects of dysferlin	GUncertain significance
Select item 895389	NM_003494.4(DYSF):c.-239C>G	DYSF	Single nucleotide variant (5 prime UTR variant)	Qualitative or quantitative defects of dysferlin	GUncertain significance
Select item 1208152	NM_003494.4(DYSF):c.-209G>A	DYSF	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 681717	NM_003494.4(DYSF):c.-179C>A	DYSF	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 510866	NM_003494.4(DYSF):c.-50T>A	DYSF	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 385866	NM_003494.4(DYSF):c.-44C>T	DYSF	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 509018	NM_003494.4(DYSF):c.-34G>T	DYSF	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 511436	NM_003494.4(DYSF):c.-12C>G	DYSF	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 595448	NM_003494.4(DYSF):c.-7G>A	DYSF	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 555456	NM_003494.4(DYSF):c.1A>G (p.Met1Val)	DYSF (M1V)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2B	GLikely pathogenic
Select item 553165	NM_003494.4(DYSF):c.2T>C (p.Met1Thr)	DYSF (M1T)	Single nucleotide variant (missense variant +1 more)	Qualitative or quantitative defects of dysferlin +1 more	GPathogenic/Likely pathogenic
Select item 501480	NM_003494.4(DYSF):c.4C>T (p.Leu2=)	DYSF	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 288291	NM_003494.4(DYSF):c.8G>A (p.Arg3Lys)	DYSF (R3K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2128646	NM_003494.4(DYSF):c.9G>C (p.Arg3Ser)	DYSF (R3S)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin	GUncertain significance
Select item 1647558	NM_003494.4(DYSF):c.9G>A (p.Arg3=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 2050745	NM_003494.4(DYSF):c.11T>G (p.Val4Gly)	DYSF (V4G)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +1 more	GUncertain significance
Select item 502095	NM_003494.4(DYSF):c.17T>A (p.Ile6Asn)	DYSF (I6N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1111336	NM_003494.4(DYSF):c.18C>T (p.Ile6=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 1940915	NM_003494.4(DYSF):c.19C>T (p.Leu7Phe)	DYSF (L7F)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin	GUncertain significance
Select item 2739435	NM_003494.4(DYSF):c.21C>T (p.Leu7=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 1075046	NM_003494.4(DYSF):c.24T>G (p.Tyr8Ter)	DYSF (Y8*)	Single nucleotide variant (nonsense)	Miyoshi muscular dystrophy 1 +2 more	GPathogenic/Likely pathogenic
Select item 2199205	NM_003494.4(DYSF):c.25G>A (p.Ala9Thr)	DYSF (A9T)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin	GUncertain significance
Select item 2791794	NM_003494.4(DYSF):c.27C>T (p.Ala9=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 761738	NM_003494.4(DYSF):c.27C>G (p.Ala9=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 2705099	NM_003494.4(DYSF):c.30G>A (p.Glu10=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 2966196	NM_003494.4(DYSF):c.33C>T (p.Asn11=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 2441158	NM_003494.4(DYSF):c.33C>G (p.Asn11Lys)	DYSF (N11K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2695352	NM_003494.4(DYSF):c.34G>T (p.Val12Phe)	DYSF (V12F)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin	GUncertain significance
Select item 2746705	NM_003494.4(DYSF):c.36C>T (p.Val12=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 2674985	NM_003494.4(DYSF):c.42_43del (p.Pro15fs)	DYSF (P15fs)	Microsatellite (frameshift variant)	Miyoshi muscular dystrophy 1	GLikely pathogenic
Select item 1085183	NM_003494.4(DYSF):c.39C>T (p.His13=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 1127502	NM_003494.4(DYSF):c.42A>G (p.Thr14=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 2790623	NM_003494.4(DYSF):c.45C>G (p.Pro15=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 1990045	NM_003494.4(DYSF):c.45C>T (p.Pro15=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 2058399	NM_003494.4(DYSF):c.46G>C (p.Asp16His)	DYSF (D16H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1508701	NM_003494.4(DYSF):c.49A>G (p.Thr17Ala)	DYSF (T17A)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin	GUncertain significance
Select item 1536290	NM_003494.4(DYSF):c.51C>T (p.Thr17=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 1451975	NM_003494.4(DYSF):c.59_68del (p.Ser20fs)	DYSF (S20fs)	Deletion (frameshift variant)	Qualitative or quantitative defects of dysferlin	GPathogenic
Select item 1537333	NM_003494.4(DYSF):c.63T>C (p.Asp21=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 558718	NM_003494.4(DYSF):c.66_69dup (p.Cys24fs)	DYSF (C24fs)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B	GLikely pathogenic
Select item 2745392	NM_003494.4(DYSF):c.66C>A (p.Ala22=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 2120721	NM_003494.4(DYSF):c.68A>G (p.Tyr23Cys)	DYSF (Y23C)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin	GUncertain significance
Select item 2881459	NM_003494.4(DYSF):c.72C>T (p.Cys24=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 554094	NM_003494.4(DYSF):c.75C>T (p.Ser25=)	DYSF	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B +1 more	GLikely benign
Select item 1105979	NM_003494.4(DYSF):c.84T>C (p.Phe28=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 1473551	NM_003494.4(DYSF):c.88G>C (p.Gly30Arg)	DYSF (G30R)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin	GUncertain significance
Select item 2675006	NM_003494.4(DYSF):c.88+1G>A	DYSF	Single nucleotide variant (splice donor variant)	Miyoshi muscular dystrophy 1	GLikely pathogenic
Select item 2699474	NM_003494.4(DYSF):c.88+10G>A	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 2688996	NM_003494.4(DYSF):c.88+10G>T	DYSF	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2879745	NM_003494.4(DYSF):c.88+11C>T	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 2744794	NM_003494.4(DYSF):c.88+12C>G	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 2773302	NM_003494.4(DYSF):c.88+13G>A	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 2806814	NM_003494.4(DYSF):c.88+15C>A	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 2987353	NM_003494.4(DYSF):c.88+19C>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 668888	NM_003494.4(DYSF):c.88+12437C>T	DYSF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247448	NM_003494.4(DYSF):c.88+12457C>A	DYSF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215942	NM_003494.4(DYSF):c.88+12483C>A	DYSF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 679525	NM_003494.4(DYSF):c.88+12487C>A	DYSF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 681327	NM_003494.4(DYSF):c.88+12589T>C	DYSF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212650	NM_003494.4(DYSF):c.88+12606A>C	DYSF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 681328	NM_001130987.2(DYSF):c.-128G>A	DYSF	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 681329	NM_001130987.2(DYSF):c.-30G>A	DYSF	Single nucleotide variant (5 prime UTR variant +1 more)	Miyoshi muscular dystrophy 1 +1 more	GBenign
Select item 558667	NM_001130987.2(DYSF):c.46AAG[1] (p.Lys17del)	DYSF (K17del)	Microsatellite (inframe_deletion +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2B	GLikely benign
Select item 444503	NM_001130987.2(DYSF):c.45G>A (p.Ala15=)	DYSF	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1034005	NM_001130987.2(DYSF):c.55C>T (p.Arg19Trp)	DYSF (R19W)	Single nucleotide variant (missense variant +1 more)	Miyoshi muscular dystrophy 1	GUncertain significance
Select item 1293352	NM_001130987.2(DYSF):c.91+50C>T	DYSF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 668889	NM_001130987.2(DYSF):c.91+280A>G	DYSF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216071	NM_001130987.2(DYSF):c.92-292A>T	DYSF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2822485	NM_001130987.2(DYSF):c.92-20C>T	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3003138	NM_001130987.2(DYSF):c.92-19C>T	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 2799911	NM_001130987.2(DYSF):c.92-18C>G	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 2797539	NM_001130987.2(DYSF):c.92-14dup	DYSF	Duplication (intron variant)	Qualitative or quantitative defects of dysferlin	GBenign
Select item 2887512	NM_001130987.2(DYSF):c.92-17T>G	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 2120408	NM_001130987.2(DYSF):c.92-13G>C	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 2053855	NM_001130987.2(DYSF):c.92-13G>T	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 2866185	NM_001130987.2(DYSF):c.92-12T>C	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 1591338	NM_001130987.2(DYSF):c.92-11G>A	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 659607	NC_000002.12:g.(?_71480873)_(71481980_?)del	DYSF	Deletion	Qualitative or quantitative defects of dysferlin	GPathogenic
Select item 1124381	NM_001130987.2(DYSF):c.92-9C>T	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 2006301	NM_001130987.2(DYSF):c.92-5T>C	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 1143741	NM_001130987.2(DYSF):c.92-4G>A	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 387288	NM_001130987.2(DYSF):c.92-3T>C	DYSF	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2746135	NC_000002.12:g.71480885del	DYSF	Deletion	Qualitative or quantitative defects of dysferlin	GPathogenic
Select item 191110	NM_001130987.2(DYSF):c.92-1G>A	DYSF	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2765598	NM_001130987.2(DYSF):c.93G>A (p.Gly31=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 1147114	NM_001130987.2(DYSF):c.93G>C (p.Gly31=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3001552	NM_001130987.2(DYSF):c.98del (p.Lys33fs)	DYSF (K33fs +1 more)	Deletion (frameshift variant)	Qualitative or quantitative defects of dysferlin	GPathogenic
Select item 1433380	NM_001130987.2(DYSF):c.98A>G (p.Lys33Arg)	DYSF (K32R +1 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +1 more	GUncertain significance
Select item 969261	NM_001130987.2(DYSF):c.98A>C (p.Lys33Thr)	DYSF (K33T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2441151	NM_001130987.2(DYSF):c.106A>T (p.Thr36Ser)	DYSF (T35S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1458131	NM_001130987.2(DYSF):c.108del (p.Val38fs)	DYSF (V37fs +1 more)	Deletion (frameshift variant)	Qualitative or quantitative defects of dysferlin	GPathogenic
Select item 2736394	NM_001130987.2(DYSF):c.108C>A (p.Thr36=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 999298	NM_001130987.2(DYSF):c.109A>G (p.Lys37Glu)	DYSF (K36E +1 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin	GUncertain significance

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