608896[MIM] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2048 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	ABCC4, ABHD13 +2049 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC126861801, LOC126861802 +2047 more	Copy number gain	See cases	GPathogenic
Select item 59853	GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3	PDS5B, PDX1 +566 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2044 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	LOC126861839, LOC126861840 +2045 more	Copy number gain	See cases	GPathogenic
Select item 153502	GRCh38/hg38 13q11-13.2(chr13:18862146-33577351)x3	LOC130009480, LOC130009481 +488 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	ABCC4, ABHD13 +2040 more	Copy number gain	See cases	GPathogenic
Select item 59861	GRCh38/hg38 13q12.11-12.3(chr13:18958091-31090460)x3	USPL1, WASF3 +415 more	Copy number gain	See cases	GPathogenic
Select item 155130	GRCh38/hg38 13q12.11-12.13(chr13:19671934-24985872)x1	LOC130009372, LOC130009373 +181 more	Copy number loss	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC124849292, LOC124849293 +2028 more	Copy number gain	See cases	GPathogenic
Select item 148827	GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3	LOC130009376, LOC130009377 +620 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2024 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	ABCC4, ABHD13 +2021 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC130009743, LOC130009744 +2024 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC130009548, LOC130009549 +2024 more	Copy number gain	See cases	GPathogenic
Select item 58233	GRCh38/hg38 13q12.12(chr13:22672788-23489498)x3	LINC00327, LINC00362 +21 more	Copy number gain	See cases	GUncertain significance
Select item 146307	GRCh38/hg38 13q12.12(chr13:22764286-24444616)x3	C1QTNF9, C1QTNF9B +62 more	Copy number gain	See cases	GLikely benign
Select item 146689	GRCh38/hg38 13q12.12(chr13:22822881-23533846)x1	LINC00327, LINC00362 +21 more	Copy number loss	See cases	GUncertain significance
Select item 1684647	NC_000013.11:g.22924987_24337204del	LOC130009367, LOC130009368 +57 more	Deletion	See cases	GUncertain significance
Select item 57578	GRCh38/hg38 13q12.12(chr13:22941375-24286142)x3	C1QTNF9B, LINC00327 +55 more	Copy number gain	See cases	GUncertain significance
Select item 151247	GRCh38/hg38 13q12.12(chr13:22943845-24336546)x3	C1QTNF9, C1QTNF9B +57 more	Copy number gain	See cases	GUncertain significance
Select item 149939	GRCh38/hg38 13q12.12(chr13:22943845-24355293)x3	C1QTNF9, C1QTNF9B +57 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 145023	GRCh38/hg38 13q12.12(chr13:22943845-23221349)x3	LINC00362, LOC132090177 +3 more	Copy number gain	See cases	GBenign
Select item 151376	GRCh38/hg38 13q12.12(chr13:22959219-24384434)x3	C1QTNF9, C1QTNF9B +57 more	Copy number gain	See cases	GUncertain significance
Select item 545158	NC_000013.11:g.(?_22968338)_(24323208_?)del	LOC130009386, LOC130009387 +55 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 57579	GRCh38/hg38 13q12.12(chr13:22980339-24363444)x3	C1QTNF9, C1QTNF9B +55 more	Copy number gain	See cases	GUncertain significance
Select item 151244	GRCh38/hg38 13q12.12(chr13:22980365-24336546)x3	C1QTNF9, C1QTNF9B +55 more	Copy number gain	See cases	GUncertain significance
Select item 149152	GRCh38/hg38 13q12.12(chr13:22980365-24370481)x3	C1QTNF9, C1QTNF9B +55 more	Copy number gain	See cases	GUncertain significance
Select item 148669	GRCh38/hg38 13q12.12(chr13:22980365-23533846)x1	LINC00327, LINC00362 +16 more	Copy number loss	See cases	GUncertain significance
Select item 59440	GRCh38/hg38 13q12.12(chr13:22992823-23499449)x1	LINC00327, LINC00362 +16 more	Copy number loss	See cases	GUncertain significance
Select item 57520	GRCh38/hg38 13q12.12(chr13:22992823-24316005)x1	C1QTNF9, C1QTNF9B +54 more	Copy number loss	See cases	GUncertain significance
Select item 33369	GRCh38/hg38 13q12.12(chr13:22992823-24336605)x3	C1QTNF9, C1QTNF9B +55 more	Copy number gain	See cases	GUncertain significance
Select item 144578	GRCh38/hg38 13q12.12(chr13:22992950-24336636)x1	C1QTNF9, C1QTNF9B +55 more	Copy number loss	See cases	GUncertain significance
Select item 145530	GRCh38/hg38 13q12.12(chr13:23045243-24253602)x1	C1QTNF9B, LINC00327 +47 more	Copy number loss	See cases	GUncertain significance
Select item 658447	NC_000013.10:g.(?_23667335)_(23985388_?)dup	LOC130009367, LOC130009368 +10 more	Duplication	Autosomal recessive limb-girdle muscular dystrophy type 2C	GUncertain significance
Select item 652383	NC_000013.11:g.(?_23093196)_(23411249_?)del	LOC130009363, LOC130009364 +10 more	Deletion	Spastic paraplegia +1 more	GPathogenic
Select item 644837	NC_000013.11:g.(?_23093196)_(23368497_?)del	LOC132090179, SACS +5 more	Deletion	Spastic paraplegia	GPathogenic
Select item 644834	NC_000013.11:g.(?_23093196)_(23203899_?)del	LINC00362, LOC132090179 +1 more	Deletion	Autosomal recessive limb-girdle muscular dystrophy type 2C	GPathogenic
Select item 583759	NC_000013.10:g.(?_23667335)_(23869646_?)dup	SGCG, LINC00362 +2 more	Duplication	Autosomal recessive limb-girdle muscular dystrophy type 2C	GUncertain significance
Select item 583650	NC_000013.11:g.(?_23093196)_(23411259_?)del	LOC130009364, LOC130009365 +10 more	Deletion	Autosomal recessive limb-girdle muscular dystrophy type 2C	GPathogenic
Select item 461620	NC_000013.10:g.(?_23667335)_(23985398_?)dup	LOC130009364, LOC130009365 +10 more	Duplication	Spastic paraplegia	GUncertain significance
Select item 144165	GRCh38/hg38 13q12.12(chr13:23106962-23856032)x1	LINC00327, LINC00362 +33 more	Copy number loss	See cases	GPathogenic
Select item 58234	GRCh38/hg38 13q12.12(chr13:23172478-23671209)x3	LINC00327, LOC130009362 +23 more	Copy number gain	See cases	GUncertain significance
Select item 989606	NM_000231.3(SGCG):c.-126C>A	SGCG	Single nucleotide variant (5 prime UTR variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GUncertain significance
Select item 311476	NM_000231.2(SGCG):c.-125A>G	SGCG	Single nucleotide variant (5 prime UTR variant +1 more)	Sarcoglycanopathy +1 more	GUncertain significance
Select item 311477	NM_000231.2(SGCG):c.-118G>A	SGCG	Single nucleotide variant (5 prime UTR variant +1 more)	Sarcoglycanopathy +1 more	GUncertain significance
Select item 883756	NM_000231.2(SGCG):c.-114C>T	SGCG	Single nucleotide variant (5 prime UTR variant +1 more)	Sarcoglycanopathy	GUncertain significance
Select item 311478	NM_000231.3(SGCG):c.-88G>A	SGCG	Single nucleotide variant (5 prime UTR variant +1 more)	Limb-Girdle Muscular Dystrophy, Recessive +2 more	GBenign/Likely benign
Select item 311479	NM_000231.3(SGCG):c.-6T>C	SGCG	Single nucleotide variant (5 prime UTR variant +1 more)	SGCG-related condition +4 more	GConflicting classifications of pathogenicity
Select item 2416024	NM_000231.3(SGCG):c.-1+5G>A	SGCG	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GUncertain significance
Select item 1326619	NM_000231.3(SGCG):c.-1+219T>C	SGCG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193684	NM_000231.3(SGCG):c.1-279A>T	SGCG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1206684	NM_000231.3(SGCG):c.1-244T>G	SGCG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188460	NM_000231.3(SGCG):c.1-174A>C	SGCG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1201163	NM_000231.3(SGCG):c.1-92C>T	SGCG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 530810	NC_000013.11:g.(?_23203675)_(23279498_?)del	LOC130009362, SGCG	Deletion	Autosomal recessive limb-girdle muscular dystrophy type 2C	GPathogenic
Select item 283890	NM_000231.3(SGCG):c.1-8C>T	SGCG	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 805445	NM_000231.3(SGCG):c.1-3C>T	SGCG (Q18*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GUncertain significance
Select item 1714973	NM_000231.3(SGCG):c.5T>C (p.Val2Ala)	SGCG (V20A +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GUncertain significance
Select item 597795	NM_000231.3(SGCG):c.7C>T (p.Arg3Cys)	SGCG (R3C +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C +1 more	GUncertain significance
Select item 284971	NM_000231.3(SGCG):c.8G>A (p.Arg3His)	SGCG (R3H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2678704	NM_000231.3(SGCG):c.10G>T (p.Glu4Ter)	SGCG (E22* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely pathogenic
Select item 291214	NM_000231.3(SGCG):c.17A>G (p.Tyr6Cys)	SGCG (Y6C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 530808	NM_000231.3(SGCG):c.22A>G (p.Thr8Ala)	SGCG (T8A +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GUncertain significance
Select item 2045276	NM_000231.3(SGCG):c.27C>T (p.Ala9=)	SGCG	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely benign
Select item 597559	NM_000231.3(SGCG):c.34G>A (p.Gly12Ser)	SGCG (G12S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2622161	NM_000231.3(SGCG):c.38T>A (p.Ile13Asn)	SGCG (I31N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1637084	NM_000231.3(SGCG):c.42C>T (p.Cys14=)	SGCG	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely benign
Select item 1505018	NM_000231.3(SGCG):c.44T>C (p.Ile15Thr)	SGCG (I33T +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GUncertain significance
Select item 1438583	NM_000231.3(SGCG):c.45A>G (p.Ile15Met)	SGCG (I33M +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GUncertain significance
Select item 2077176	NM_000231.3(SGCG):c.46G>C (p.Glu16Gln)	SGCG (E34Q +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GUncertain significance
Select item 2761856	NM_000231.3(SGCG):c.57G>A (p.Glu19=)	SGCG	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely benign
Select item 862021	NM_000231.3(SGCG):c.57G>T (p.Glu19Asp)	SGCG (E37D +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GUncertain significance
Select item 195047	NM_000231.3(SGCG):c.58A>G (p.Asn20Asp)	SGCG (N20D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1106811	NM_000231.3(SGCG):c.63G>A (p.Gln21=)	SGCG	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely benign
Select item 1451826	NM_000231.3(SGCG):c.66T>A (p.Tyr22Ter)	SGCG (Y40* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GPathogenic
Select item 1101064	NM_000231.3(SGCG):c.66T>C (p.Tyr22=)	SGCG	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely benign
Select item 2736295	NM_000231.3(SGCG):c.69C>T (p.Val23=)	SGCG	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely benign
Select item 285596	NM_000231.3(SGCG):c.77T>C (p.Ile26Thr)	SGCG (I26T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2818710	NM_000231.3(SGCG):c.82del (p.Ile28fs)	SGCG (I28fs +1 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GPathogenic
Select item 2678703	NM_000231.3(SGCG):c.85dup (p.Tyr29fs)	SGCG (Y29fs +1 more)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely pathogenic
Select item 2072552	NM_000231.3(SGCG):c.82A>C (p.Ile28Leu)	SGCG (I46L +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GUncertain significance
Select item 1307986	NM_000231.3(SGCG):c.84T>G (p.Ile28Met)	SGCG (I28M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 793387	NM_000231.3(SGCG):c.84T>C (p.Ile28=)	SGCG	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely benign
Select item 2008	NM_000231.3(SGCG):c.87dup (p.Gly30fs)	SGCG (G30fs +1 more)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GPathogenic
Select item 1397202	NM_000231.3(SGCG):c.87T>A (p.Tyr29Ter)	SGCG (Y29* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GPathogenic
Select item 1122152	NM_000231.3(SGCG):c.87T>C (p.Tyr29=)	SGCG	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely benign
Select item 2822772	NM_000231.3(SGCG):c.89del (p.Gly30fs)	SGCG (G48fs +1 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GPathogenic
Select item 2585638	NM_000231.3(SGCG):c.92G>A (p.Trp31Ter)	SGCG (W31* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GPathogenic/Likely pathogenic
Select item 2578455	NM_000231.3(SGCG):c.95G>A (p.Arg32Lys)	SGCG (R32K +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GUncertain significance
Select item 1159505	NM_000231.3(SGCG):c.99G>A (p.Lys33=)	SGCG	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely benign
Select item 1256426	NM_000231.3(SGCG):c.100C>T (p.Arg34Cys)	SGCG (R34C +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C +1 more	GUncertain significance
Select item 1209788	NM_000231.3(SGCG):c.101G>A (p.Arg34His)	SGCG (R34H +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C +1 more	GUncertain significance
Select item 255600	NM_000231.3(SGCG):c.102C>T (p.Arg34=)	SGCG	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1459762	NM_000231.3(SGCG):c.105T>A (p.Cys35Ter)	SGCG (C53* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GPathogenic
Select item 2801716	NM_000231.3(SGCG):c.111C>T (p.Tyr37=)	SGCG	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely benign
Select item 1579727	NM_000231.3(SGCG):c.112T>C (p.Leu38=)	SGCG	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely benign
Select item 966832	NM_000231.3(SGCG):c.117T>G (p.Phe39Leu)	SGCG (F39L +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GUncertain significance
Select item 870673	NM_000231.3(SGCG):c.117T>A (p.Phe39Leu)	SGCG (F39L +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C +1 more	GUncertain significance

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