6262[geneid] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 8022

<< First< Prev

Page of 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1427 more	Copy number gain	See cases	GPathogenic
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	OR2M4, OR2M5 +1351 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1325 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	ABCB10, ACBD3 +1167 more	Copy number gain	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	LOC129932646, LOC129932647 +967 more	Copy number gain	See cases	GPathogenic
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LOC129932948, LOC129932949 +954 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	LOC129932666, LOC129932667 +954 more	Copy number gain	See cases	GPathogenic
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	LOC128772241, LOC128772242 +952 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	SCCPDH, SDCCAG8 +951 more	Copy number gain	See cases	GPathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	LOC129932613, LOC129932614 +949 more	Copy number gain	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	LOC129932859, LOC129932860 +869 more	Copy number gain	See cases	GPathogenic
Select item 147487	GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3	LOC129932775, LOC129932776 +655 more	Copy number gain	See cases	GPathogenic
Select item 57387	GRCh38/hg38 1q42.13-44(chr1:230106271-243677283)x1	ACTN2, AGT +378 more	Copy number loss	See cases	GPathogenic
Select item 2579289	GRCh38/hg38 1q42.13-44(chr1:230178121-243646135)x1	ACTN2, AGT +369 more	Copy number loss	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GPathogenic
Select item 2579286	GRCh38/hg38 1q42.3-44(chr1:235215476-247005888)x1	LOC129932908, LOC129932909 +270 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 147606	GRCh38/hg38 1q42.3-43(chr1:235387992-237270632)x3	ACTN2, B3GALNT2 +88 more	Copy number gain	See cases	GPathogenic
Select item 148480	GRCh38/hg38 1q43-44(chr1:236556082-248918469)x1	LOC110121264, LOC110121265 +301 more	Copy number loss	See cases	GPathogenic
Select item 463185	NC_000001.10:g.(?_236849954)_(237205889_?)dup	LOC129932885, LOC129932886 +9 more	Duplication	Dilated cardiomyopathy 1AA +1 more	GUncertain significance
Select item 148802	GRCh38/hg38 1q43(chr1:237041745-237356380)x3	LOC126806066, RYR2	Copy number gain	See cases	GUncertain significance
Select item 1180257	NC_000001.11:g.237042069C>G	RYR2	Single nucleotide variant	not provided	GBenign
Select item 671631	NM_001035.2(RYR2):c.-420G>C	RYR2	Single nucleotide variant	not provided	GLikely benign
Select item 1269966	NM_001035.3(RYR2):c.-307C>T	RYR2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1224907	NM_001035.3(RYR2):c.-200C>A	RYR2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1248863	NM_001035.3(RYR2):c.-139C>A	RYR2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1238956	NM_001035.3(RYR2):c.-139C>T	RYR2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1266852	NM_001035.3(RYR2):c.-128A>C	RYR2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 417329	NC_000001.10:g.(?_237205702)_(237519285_?)dup	LOC126806066, RYR2	Duplication	Catecholaminergic polymorphic ventricular tachycardia	GUncertain significance
Select item 1272476	NM_001035.3(RYR2):c.-109del	RYR2	Deletion (5 prime UTR variant)	not provided	GBenign
Select item 1179778	NM_001035.3(RYR2):c.-93C>T	RYR2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 201174	NM_001035.3(RYR2):c.-62CCG[6]	RYR2	Microsatellite (5 prime UTR variant)	not specified	GBenign
Select item 296699	NM_001035.3(RYR2):c.-63G>T	RYR2	Single nucleotide variant (5 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 2 +2 more	GConflicting classifications of pathogenicity
Select item 1281501	NM_001035.3(RYR2):c.-47A>C	RYR2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 390734	NM_001035.3(RYR2):c.-46G>A	RYR2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 514469	NM_001035.3(RYR2):c.-37G>T	RYR2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 516259	NM_001035.3(RYR2):c.-32G>C	RYR2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 387957	NM_001035.3(RYR2):c.-30G>C	RYR2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 518118	NM_001035.3(RYR2):c.-27C>T	RYR2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 296700	NM_001035.3(RYR2):c.-27C>A	RYR2	Single nucleotide variant (5 prime UTR variant)	Catecholaminergic polymorphic ventricular tachycardia +1 more	GUncertain significance
Select item 296701	NM_001035.3(RYR2):c.-20C>A	RYR2	Single nucleotide variant (5 prime UTR variant)	Catecholaminergic polymorphic ventricular tachycardia +1 more	GUncertain significance
Select item 874067	NM_001035.3(RYR2):c.-15A>G	RYR2	Single nucleotide variant (5 prime UTR variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GUncertain significance
Select item 2774228	NM_001035.3(RYR2):c.-13G>A	RYR2	Single nucleotide variant (5 prime UTR variant)	Cardiomyopathy	GUncertain significance
Select item 1332341	NM_001035.3(RYR2):c.-10G>A	RYR2	Single nucleotide variant (5 prime UTR variant)	Cardiomyopathy	GUncertain significance
Select item 918293	NM_001035.3(RYR2):c.-7C>A	RYR2	Single nucleotide variant (5 prime UTR variant)	Cardiomyopathy	GUncertain significance
Select item 927379	NM_001035.3(RYR2):c.-2C>A	RYR2	Single nucleotide variant (5 prime UTR variant)	Cardiomyopathy	GUncertain significance
Select item 1332322	NM_001035.3(RYR2):c.-1C>T	RYR2	Single nucleotide variant (5 prime UTR variant)	Cardiomyopathy	GUncertain significance
Select item 1712741	NM_001035.3(RYR2):c.2T>C (p.Met1Thr)	RYR2 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 919946	NM_001035.3(RYR2):c.4G>T (p.Ala2Ser)	RYR2 (A2S)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 1607866	NM_001035.3(RYR2):c.6C>G (p.Ala2=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 1360924	NM_001035.3(RYR2):c.6C>A (p.Ala2=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 3071128	NM_001035.3(RYR2):c.8A>T (p.Asp3Val)	RYR2 (D3V)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia	GUncertain significance
Select item 3073503	NM_001035.3(RYR2):c.9T>G (p.Asp3Glu)	RYR2 (D3E)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia	GUncertain significance
Select item 3070316	NM_001035.3(RYR2):c.10G>A (p.Gly4Arg)	RYR2 (G4R)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia	GUncertain significance
Select item 1427591	NM_001035.3(RYR2):c.11G>T (p.Gly4Val)	RYR2 (G4V)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +3 more	GUncertain significance
Select item 463550	NM_001035.3(RYR2):c.11G>C (p.Gly4Ala)	RYR2 (G4A)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +1 more	GConflicting classifications of pathogenicity
Select item 1332057	NM_001035.3(RYR2):c.13G>T (p.Gly5Cys)	RYR2 (G5C)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 1321104	NM_001035.3(RYR2):c.14G>A (p.Gly5Asp)	RYR2 (G5D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 201287	NM_001035.3(RYR2):c.19G>A (p.Gly7Ser)	RYR2 (G7S)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 3070006	NM_001035.3(RYR2):c.20G>A (p.Gly7Asp)	RYR2 (G7D)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia	GUncertain significance
Select item 2180076	NM_001035.3(RYR2):c.21C>A (p.Gly7=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 2036562	NM_001035.3(RYR2):c.27C>T (p.Asp9=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 1678118	NM_001035.3(RYR2):c.28G>T (p.Glu10Ter)	RYR2 (E10*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1491978	NM_001035.3(RYR2):c.29A>C (p.Glu10Ala)	RYR2 (E10A)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +2 more	GUncertain significance
Select item 201288	NM_001035.3(RYR2):c.32T>C (p.Ile11Thr)	RYR2 (I11T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 532322	NM_001035.3(RYR2):c.36G>C (p.Gln12His)	RYR2 (Q12H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 201289	NM_001035.3(RYR2):c.37T>C (p.Phe13Leu)	RYR2 (F13L)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +2 more	GConflicting classifications of pathogenicity
Select item 238232	NM_001035.3(RYR2):c.38T>G (p.Phe13Cys)	RYR2 (F13C)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 2844456	NM_001035.3(RYR2):c.39C>T (p.Phe13=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 1006238	NM_001035.3(RYR2):c.39C>G (p.Phe13Leu)	RYR2 (F13L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 238233	NM_001035.3(RYR2):c.40C>T (p.Leu14=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +4 more	GLikely benign
Select item 288265	NM_001035.3(RYR2):c.41T>C (p.Leu14Pro)	RYR2 (L14P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3074990	NM_001035.3(RYR2):c.42G>A (p.Leu14=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia	GLikely benign
Select item 2729312	NM_001035.3(RYR2):c.43C>A (p.Arg15=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 2746489	NM_001035.3(RYR2):c.44_45insTGT (p.Arg15_Thr16insVal)	RYR2	Insertion (inframe_insertion)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 463600	NM_001035.3(RYR2):c.44G>C (p.Arg15Pro)	RYR2 (R15P)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely pathogenic
Select item 920006	NM_001035.3(RYR2):c.46A>G (p.Thr16Ala)	RYR2 (T16A)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 2746490	NM_001035.3(RYR2):c.47_48del (p.Thr16fs)	RYR2 (T16fs)	Deletion (frameshift variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 2054848	NM_001035.3(RYR2):c.48T>C (p.Thr16=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GConflicting classifications of pathogenicity
Select item 3016754	NM_001035.3(RYR2):c.48+2T>C	RYR2	Single nucleotide variant (splice donor variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 2075502	NM_001035.3(RYR2):c.48+6C>A	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 463602	NM_001035.3(RYR2):c.48+7G>T	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 2153466	NM_001035.3(RYR2):c.48+8C>T	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 2821209	NM_001035.3(RYR2):c.48+9C>T	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 2776027	NM_001035.3(RYR2):c.48+10G>A	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 1552415	NM_001035.3(RYR2):c.48+11T>A	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 1555053	NM_001035.3(RYR2):c.48+13C>T	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 2972115	NM_001035.3(RYR2):c.48+15T>C	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 2173758	NM_001035.3(RYR2):c.48+19G>T	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 671444	NM_001035.3(RYR2):c.48+37G>A	RYR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200776	NM_001035.3(RYR2):c.48+104G>A	RYR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 668912	NM_001035.3(RYR2):c.49-273C>T	RYR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 672066	NM_001035.3(RYR2):c.49-172C>T	RYR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200658	NM_001035.3(RYR2):c.49-156C>T	RYR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 463533	NC_000001.10:g.(?_237433777)_(237433936_?)dup	RYR2	Duplication	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 2768330	NM_001035.3(RYR2):c.49-16_49-13del	RYR2	Deletion (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 2788358	NM_001035.3(RYR2):c.49-17T>C	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 2866401	NM_001035.3(RYR2):c.49-14C>G	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 2908670	NM_001035.3(RYR2):c.49-12C>T	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 1640026	NM_001035.3(RYR2):c.49-11C>T	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 1991963	NM_001035.3(RYR2):c.49-10C>G	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 764835	NM_001035.3(RYR2):c.49-10C>T	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GLikely benign

<< First< Prev

Page of 81