1293[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	LOC129935343, LOC129935344 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	LOC129935841, LOC129935842 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC129935871, LOC129935872 +986 more	Copy number gain	See cases	GPathogenic
Select item 59173	GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3	ACKR3, AGAP1 +630 more	Copy number gain	See cases	GPathogenic
Select item 144756	GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3	LOC129935973, LOC129935974 +576 more	Copy number gain	See cases	GPathogenic
Select item 161051	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	ACKR3, AGAP1 +455 more	Copy number loss	See cases	GPathogenic
Select item 34724	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	LOC129935973, LOC129935974 +455 more	Copy number loss	See cases	GPathogenic
Select item 58851	GRCh38/hg38 2q37.1-37.3(chr2:233420162-242086301)x1	LOC129935990, LOC129935991 +361 more	Copy number loss	See cases	GPathogenic
Select item 58852	GRCh38/hg38 2q37.1-37.3(chr2:233453611-242099155)x1	ACKR3, AGAP1 +359 more	Copy number loss	See cases	GPathogenic
Select item 148337	GRCh38/hg38 2q37.1-37.3(chr2:234058757-239443690)x1	GBX2, GBX2-AS1 +180 more	Copy number loss	See cases	GPathogenic
Select item 154186	GRCh38/hg38 2q37.1-37.3(chr2:234159653-241841232)x1	LOC132090688, LOC132090689 +325 more	Copy number loss	See cases	GPathogenic
Select item 58879	GRCh38/hg38 2q37.1-37.3(chr2:234172536-242086301)x1	LOC126806577, LOC126806578 +334 more	Copy number loss	See cases	GPathogenic
Select item 57457	GRCh38/hg38 2q37.1-37.3(chr2:234345842-242126245)x1	HDAC4, HDAC4-AS1 +334 more	Copy number loss	See cases	GPathogenic
Select item 58880	GRCh38/hg38 2q37.1-37.3(chr2:234668159-242126245)x1	PRLH, PRR21 +325 more	Copy number loss	See cases	GPathogenic
Select item 147967	GRCh38/hg38 2q37.2-37.3(chr2:234835780-242065208)x1	ACKR3, AGAP1 +318 more	Copy number loss	See cases	GPathogenic
Select item 147844	GRCh38/hg38 2q37.2-37.3(chr2:235028429-242066108)x1	ACKR3, AGAP1 +314 more	Copy number loss	See cases	GPathogenic
Select item 59176	GRCh38/hg38 2q37.2-37.3(chr2:235268768-242126245)x3	ACKR3, AGAP1 +311 more	Copy number gain	See cases	GPathogenic
Select item 58882	GRCh38/hg38 2q37.2-37.3(chr2:235268768-242065208)x1	ACKR3, AGAP1 +309 more	Copy number loss	See cases	GPathogenic
Select item 59177	GRCh38/hg38 2q37.2-37.3(chr2:235563664-242086301)x3	ACKR3, AGAP1 +303 more	Copy number gain	See cases	GPathogenic
Select item 147465	GRCh38/hg38 2q37.2-37.3(chr2:235603604-241771051)x1	ACKR3, AGAP1 +288 more	Copy number loss	See cases	GPathogenic
Select item 58883	GRCh38/hg38 2q37.2-37.3(chr2:235741079-242032456)x1	ACKR3, AGAP1 +298 more	Copy number loss	See cases	GPathogenic
Select item 148764	GRCh38/hg38 2q37.2-37.3(chr2:235757098-239443690)x1	ACKR3, AGAP1 +144 more	Copy number loss	See cases	GPathogenic
Select item 153183	GRCh38/hg38 2q37.2-37.3(chr2:235846916-241841232)x1	ACKR3, AGAP1 +288 more	Copy number loss	See cases	GPathogenic
Select item 57426	GRCh38/hg38 2q37.2-37.3(chr2:236043791-237379158)x3	ACKR3, AGAP1 +33 more	Copy number gain	See cases	GUncertain significance
Select item 151026	GRCh38/hg38 2q37.3(chr2:236413722-242126251)x1	LOC122889015, LOC122889016 +287 more	Copy number loss	See cases	GPathogenic
Select item 57420	GRCh38/hg38 2q37.3(chr2:236555233-242126245)x1	ACKR3, AGXT +276 more	Copy number loss	See cases	GPathogenic
Select item 543036	NC_000002.11:g.(?_237481970)_(238305480_?)dup	ACKR3, COL6A3 +12 more	Duplication	Bethlem myopathy 1A	GUncertain significance
Select item 1684635	Single allele	GPC1-AS1, GPR35 +274 more	Deletion	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 150710	GRCh38/hg38 2q37.3(chr2:236775762-242126251)x1	AGXT, ANKMY1 +274 more	Copy number loss	See cases	GPathogenic
Select item 146261	GRCh38/hg38 2q37.3(chr2:236966763-242065208)x1	AGXT, ANKMY1 +271 more	Copy number loss	See cases	GPathogenic
Select item 146602	GRCh38/hg38 2q37.3(chr2:237034476-242065208)x1	AGXT, ANKMY1 +270 more	Copy number loss	See cases	GPathogenic
Select item 147368	GRCh38/hg38 2q37.3(chr2:237232204-242065208)x1	AGXT, ANKMY1 +264 more	Copy number loss	See cases	GPathogenic
Select item 335088	NM_004369.4(COL6A3):c.*754T>A	COL6A3	Single nucleotide variant (3 prime UTR variant)	Collagen 6-related myopathy	GUncertain significance
Select item 335089	NM_004369.4(COL6A3):c.*665G>T	COL6A3	Single nucleotide variant (3 prime UTR variant)	Collagen 6-related myopathy	GBenign
Select item 335090	NM_004369.4(COL6A3):c.*663T>G	COL6A3	Single nucleotide variant (3 prime UTR variant)	Collagen 6-related myopathy	GBenign
Select item 897588	NM_004369.4(COL6A3):c.*615G>A	COL6A3	Single nucleotide variant (3 prime UTR variant)	Collagen 6-related myopathy	GUncertain significance
Select item 335091	NM_004369.4(COL6A3):c.*606A>T	COL6A3	Single nucleotide variant (3 prime UTR variant)	Collagen 6-related myopathy	GBenign
Select item 335092	NM_004369.4(COL6A3):c.*426G>A	COL6A3	Single nucleotide variant (3 prime UTR variant)	Collagen 6-related myopathy	GLikely benign
Select item 335093	NM_004369.4(COL6A3):c.*377C>T	COL6A3	Single nucleotide variant (3 prime UTR variant)	Collagen 6-related myopathy	GUncertain significance
Select item 335094	NM_004369.4(COL6A3):c.*285A>G	COL6A3	Single nucleotide variant (3 prime UTR variant)	Collagen 6-related myopathy	GUncertain significance
Select item 335095	NM_004369.4(COL6A3):c.*90C>T	COL6A3, LOC126806573	Single nucleotide variant (3 prime UTR variant)	Collagen 6-related myopathy	GUncertain significance
Select item 897589	NM_004369.4(COL6A3):c.*51C>G	COL6A3, LOC126806573	Single nucleotide variant (3 prime UTR variant)	Collagen 6-related myopathy	GUncertain significance
Select item 596537	NM_004369.4(COL6A3):c.*7G>T	COL6A3, LOC126806573	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 94900	NM_004369.4(COL6A3):c.*7G>C	COL6A3, LOC126806573	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GBenign
Select item 1434041	NM_004369.4(COL6A3):c.9529A>C (p.Thr3177Pro)	COL6A3, LOC126806573 (T2971P +2 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 282891	NM_004369.4(COL6A3):c.9524T>C (p.Met3175Thr)	COL6A3, LOC126806573 (M3175T +2 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +4 more	GConflicting classifications of pathogenicity
Select item 3014975	NM_004369.4(COL6A3):c.9523A>C (p.Met3175Leu)	COL6A3, LOC126806573 (M2975L +4 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GLikely benign
Select item 287900	NM_004369.4(COL6A3):c.9508G>A (p.Gly3170Arg)	COL6A3, LOC126806573 (G3170R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1564625	NM_004369.4(COL6A3):c.9504A>G (p.Lys3168=)	COL6A3, LOC126806573	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 848577	NM_004369.4(COL6A3):c.9499G>A (p.Ala3167Thr)	COL6A3, LOC126806573 (A2560T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 287183	NM_004369.4(COL6A3):c.9498C>T (p.Leu3166=)	COL6A3, LOC126806573	Single nucleotide variant (synonymous variant)	COL6A3-related condition +2 more	GConflicting classifications of pathogenicity
Select item 1899178	NM_004369.4(COL6A3):c.9494T>G (p.Val3165Gly)	COL6A3, LOC126806573 (V2558G +4 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 576775	NM_004369.4(COL6A3):c.9494-2A>G	COL6A3, LOC126806573	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GUncertain significance
Select item 287031	NM_004369.4(COL6A3):c.9494-5C>T	COL6A3, LOC126806573	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1809778	NM_004369.4(COL6A3):c.9494-6G>A	COL6A3, LOC126806573	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 702445	NM_004369.4(COL6A3):c.9494-6G>T	COL6A3, LOC126806573	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 515415	NM_004369.4(COL6A3):c.9494-7C>T	LOC126806573, COL6A3	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 2200531	NM_004369.4(COL6A3):c.9494-9G>A	COL6A3, LOC126806573	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 2159674	NM_004369.4(COL6A3):c.9494-15TC[2]	COL6A3, LOC126806573	Microsatellite (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 285453	NM_004369.4(COL6A3):c.9494-10C>T	COL6A3, LOC126806573	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1596685	NM_004369.4(COL6A3):c.9494-12C>G	COL6A3, LOC126806573	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 2073806	NM_004369.4(COL6A3):c.9494-16C>G	COL6A3, LOC126806573	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 2037598	NM_004369.4(COL6A3):c.9494-17C>A	LOC126806573, COL6A3	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 95022	NM_004369.4(COL6A3):c.9494-26C>T	COL6A3, LOC126806573	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1210782	NM_004369.4(COL6A3):c.9494-174G>A	LOC126806573, COL6A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 681669	NM_004369.4(COL6A3):c.9494-208A>T	COL6A3, LOC126806573	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190099	NM_004369.4(COL6A3):c.9494-260A>G	COL6A3, LOC126806573	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1945854	NM_004369.4(COL6A3):c.9493+16T>C	COL6A3, LOC126806573	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 2140673	NM_004369.4(COL6A3):c.9493+14C>T	COL6A3, LOC126806573	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 3053937	NM_004369.4(COL6A3):c.9493+8A>T	COL6A3, LOC126806573	Single nucleotide variant (intron variant)	COL6A3-related condition	GLikely benign
Select item 1638602	NM_004369.4(COL6A3):c.9489T>C (p.Ala3163=)	COL6A3, LOC126806573	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 1551284	NM_004369.4(COL6A3):c.9489T>A (p.Ala3163=)	COL6A3, LOC126806573	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 945552	NM_004369.4(COL6A3):c.9487G>C (p.Ala3163Pro)	COL6A3, LOC126806573 (A3163P +2 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GLikely benign
Select item 197483	NM_004369.4(COL6A3):c.9487G>A (p.Ala3163Thr)	COL6A3, LOC126806573 (A3163T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 779514	NM_004369.4(COL6A3):c.9486C>T (p.Cys3162=)	COL6A3, LOC126806573	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 2749809	NM_004369.4(COL6A3):c.9481del (p.Val3161fs)	COL6A3, LOC126806573 (V2955fs +2 more)	Deletion (frameshift variant)	Bethlem myopathy 1A	GUncertain significance
Select item 2696053	NM_004369.4(COL6A3):c.9480G>A (p.Lys3160=)	COL6A3, LOC126806573	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 2578332	NM_004369.4(COL6A3):c.9477A>C (p.Glu3159Asp)	COL6A3, LOC126806573 (E2552D +4 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 1999370	NM_004369.4(COL6A3):c.9472_9476dup (p.Glu3159fs)	COL6A3, LOC126806573 (E3159fs +2 more)	Duplication (frameshift variant)	Bethlem myopathy 1A	GUncertain significance
Select item 2109289	NM_004369.4(COL6A3):c.9465G>C (p.Gln3155His)	COL6A3, LOC126806573 (Q2949H +4 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 288878	NM_004369.4(COL6A3):c.9459A>G (p.Gly3153=)	COL6A3, LOC126806573	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 450484	NM_004369.4(COL6A3):c.9458G>T (p.Gly3153Val)	COL6A3, LOC126806573 (G3153V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2440442	NM_004369.4(COL6A3):c.9457G>A (p.Gly3153Arg)	COL6A3, LOC126806573 (G2546R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 499886	NM_004369.4(COL6A3):c.9457G>C (p.Gly3153Arg)	COL6A3, LOC126806573 (G3153R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 283443	NM_004369.4(COL6A3):c.9451A>G (p.Lys3151Glu)	COL6A3, LOC126806573 (K3151E +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2710004	NM_004369.4(COL6A3):c.9450C>A (p.Asn3150Lys)	COL6A3, LOC126806573 (N2543K +4 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 2720365	NM_004369.4(COL6A3):c.9449A>G (p.Asn3150Ser)	COL6A3, LOC126806573 (N2950S +4 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 430200	NM_004369.4(COL6A3):c.9445G>A (p.Glu3149Lys)	COL6A3, LOC126806573 (E3149K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 287794	NM_004369.4(COL6A3):c.9444C>T (p.Asn3148=)	COL6A3, LOC126806573	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2191568	NM_004369.4(COL6A3):c.9441A>G (p.Gly3147=)	COL6A3, LOC126806573	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 1655616	NM_004369.4(COL6A3):c.9435T>C (p.Cys3145=)	COL6A3, LOC126806573	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 282654	NM_004369.4(COL6A3):c.9418T>G (p.Phe3140Val)	LOC126806573, COL6A3 (F3140V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 940006	NM_004369.4(COL6A3):c.9417A>G (p.Arg3139=)	COL6A3, LOC126806573	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GUncertain significance
Select item 971277	NM_004369.4(COL6A3):c.9416G>A (p.Arg3139Lys)	COL6A3, LOC126806573 (R3139K +2 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 95021	NM_004369.4(COL6A3):c.9411T>C (p.Cys3137=)	COL6A3, LOC126806573	Single nucleotide variant (synonymous variant)	Collagen 6-related myopathy +3 more	GBenign/Likely benign
Select item 542989	NM_004369.4(COL6A3):c.9407G>A (p.Ser3136Asn)	COL6A3, LOC126806573 (S3136N +2 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GLikely benign
Select item 2694721	NM_004369.4(COL6A3):c.9401C>T (p.Thr3134Ile)	COL6A3, LOC126806573 (T2928I +4 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 1005356	NM_004369.4(COL6A3):c.9398A>G (p.Asn3133Ser)	COL6A3, LOC126806573 (N2526S +2 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance

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