21184[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	LOC129389719, LOC129389720 +866 more	Copy number gain	See cases	GPathogenic
Select item 2663766	NC_000006.12:g.(?_150381239)_(159553952_?)del	LOC129997480, LOC129997522 +288 more	Deletion	Chromosome 6q24-q25 deletion syndrome	GPathogenic
Select item 150766	GRCh38/hg38 6q25.1-25.3(chr6:150381239-159553952)x1	AKAP12, ARID1B +288 more	Copy number loss	See cases	GPathogenic
Select item 154527	GRCh38/hg38 6q25.2-27(chr6:152376338-170612001)x3	LOC101929460, LOC102724087 +572 more	Copy number gain	See cases	GPathogenic
Select item 153525	GRCh38/hg38 6q25.2-27(chr6:152793402-170610394)x1	LOC129997640, LOC129997641 +564 more	Copy number loss	See cases	GPathogenic
Select item 58453	GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1	ACAT2, AFDN +549 more	Copy number loss	See cases	GPathogenic
Select item 148306	GRCh38/hg38 6q25.2-27(chr6:154539655-170714507)x1	IGF2R, KIF25 +540 more	Copy number loss	See cases	GPathogenic
Select item 148765	GRCh38/hg38 6q25.3-26(chr6:155378049-163133499)x1	SOD2, SOD2-OT1 +270 more	Copy number loss	See cases	GPathogenic
Select item 58157	GRCh38/hg38 6q25.3(chr6:157827805-159726548)x3	DYNLT1, EZR +100 more	Copy number gain	See cases	GPathogenic
Select item 155551	GRCh38/hg38 6q25.3-26(chr6:158585724-160899783)x3	ACAT2, AIRN +115 more	Copy number gain	See cases	GUncertain significance
Select item 3096024	NM_032532.3(FNDC1):c.32C>G (p.Ala11Gly)	FNDC1, FNDC1-AS1 (A11G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363209	NM_032532.3(FNDC1):c.85G>T (p.Val29Phe)	FNDC1, FNDC1-AS1 (V29F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390575	NM_032532.3(FNDC1):c.101C>A (p.Ala34Glu)	FNDC1, FNDC1-AS1 (A34E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390576	NM_032532.3(FNDC1):c.106T>A (p.Ser36Thr)	FNDC1, FNDC1-AS1 (S36T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407535	NM_032532.3(FNDC1):c.112G>C (p.Asp38His)	FNDC1 (D38H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403225	NM_032532.3(FNDC1):c.178G>A (p.Asp60Asn)	FNDC1 (D60N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096017	NM_032532.3(FNDC1):c.194C>A (p.Ala65Asp)	FNDC1 (A65D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096021	NM_032532.3(FNDC1):c.272C>T (p.Ala91Val)	FNDC1 (A91V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373898	NM_032532.3(FNDC1):c.301G>T (p.Val101Leu)	FNDC1 (V101L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555732	NM_032532.3(FNDC1):c.313G>T (p.Val105Leu)	FNDC1 (V105L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298403	NM_032532.3(FNDC1):c.341A>G (p.Glu114Gly)	FNDC1 (E114G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096027	NM_032532.3(FNDC1):c.361C>T (p.Arg121Cys)	FNDC1 (R121C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096033	NM_032532.3(FNDC1):c.385C>T (p.Pro129Ser)	FNDC1 (P129S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311472	NM_032532.3(FNDC1):c.404T>C (p.Ile135Thr)	FNDC1 (I135T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239453	NM_032532.3(FNDC1):c.454G>A (p.Val152Ile)	FNDC1 (V152I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596618	NM_032532.3(FNDC1):c.493C>T (p.Arg165Cys)	FNDC1 (R165C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287594	NM_032532.3(FNDC1):c.494G>A (p.Arg165His)	FNDC1 (R165H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222138	NM_032532.3(FNDC1):c.499C>T (p.Arg167Trp)	FNDC1 (R167W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307507	NM_032532.3(FNDC1):c.500G>A (p.Arg167Gln)	FNDC1 (R167Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096049	NM_032532.3(FNDC1):c.571T>C (p.Ser191Pro)	FNDC1 (S191P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381869	NM_032532.3(FNDC1):c.575G>A (p.Arg192Gln)	FNDC1 (R192Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529965	NM_032532.3(FNDC1):c.601A>T (p.Ser201Cys)	FNDC1 (S201C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096050	NM_032532.3(FNDC1):c.607C>T (p.Arg203Trp)	FNDC1 (R203W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557828	NM_032532.3(FNDC1):c.611A>G (p.Lys204Arg)	FNDC1 (K204R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 712640	NM_032532.3(FNDC1):c.651C>T (p.His217=)	FNDC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2376365	NM_032532.3(FNDC1):c.694C>G (p.Leu232Val)	FNDC1 (L232V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096051	NM_032532.3(FNDC1):c.695T>G (p.Leu232Arg)	FNDC1 (L232R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096052	NM_032532.3(FNDC1):c.755G>A (p.Arg252Gln)	FNDC1 (R252Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455402	NM_032532.3(FNDC1):c.782A>G (p.Asp261Gly)	FNDC1 (D261G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657094	NM_032532.3(FNDC1):c.849T>A (p.Pro283=)	FNDC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 717217	NM_032532.3(FNDC1):c.857A>T (p.Glu286Val)	FNDC1 (E286V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 787841	NM_032532.3(FNDC1):c.927G>A (p.Arg309=)	FNDC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3096053	NM_032532.3(FNDC1):c.930G>T (p.Trp310Cys)	FNDC1 (W310C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266619	NM_032532.3(FNDC1):c.1006C>T (p.Arg336Cys)	FNDC1 (R336C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548423	NM_032532.3(FNDC1):c.1102G>A (p.Val368Ile)	FNDC1 (V368I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096011	NM_032532.3(FNDC1):c.1178A>T (p.Lys393Ile)	FNDC1 (K393I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787842	NM_032532.3(FNDC1):c.1182A>G (p.Glu394=)	FNDC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2482273	NM_032532.3(FNDC1):c.1192T>G (p.Ser398Ala)	FNDC1 (S398A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459830	NM_032532.3(FNDC1):c.1202C>T (p.Pro401Leu)	FNDC1 (P401L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551937	NM_032532.3(FNDC1):c.1229C>T (p.Ser410Phe)	FNDC1 (S410F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096012	NM_032532.3(FNDC1):c.1238A>C (p.Tyr413Ser)	FNDC1 (Y413S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096013	NM_032532.3(FNDC1):c.1307G>A (p.Arg436Gln)	FNDC1 (R436Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 708439	NM_032532.3(FNDC1):c.1308G>A (p.Arg436=)	FNDC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2455121	NM_032532.3(FNDC1):c.1346C>T (p.Ala449Val)	FNDC1 (A449V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096014	NM_032532.3(FNDC1):c.1366A>G (p.Thr456Ala)	FNDC1 (T456A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717218	NM_032532.3(FNDC1):c.1370-4G>A	FNDC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2293916	NM_032532.3(FNDC1):c.1379C>A (p.Ala460Glu)	FNDC1 (A460E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613074	NM_032532.3(FNDC1):c.1417G>A (p.Glu473Lys)	FNDC1 (E473K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530125	NM_032532.3(FNDC1):c.1438C>G (p.Pro480Ala)	FNDC1 (P480A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096015	NM_032532.3(FNDC1):c.1504G>A (p.Ala502Thr)	FNDC1 (A502T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589276	NM_032532.3(FNDC1):c.1507A>G (p.Lys503Glu)	FNDC1 (K503E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472229	NM_032532.3(FNDC1):c.1610C>T (p.Ser537Leu)	FNDC1 (S537L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378466	NM_032532.3(FNDC1):c.1682A>T (p.Asp561Val)	FNDC1 (D561V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324218	NM_032532.3(FNDC1):c.1687A>G (p.Lys563Glu)	FNDC1 (K563E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287329	NM_032532.3(FNDC1):c.1714C>A (p.His572Asn)	FNDC1 (H572N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558375	NM_032532.3(FNDC1):c.1717G>A (p.Gly573Ser)	FNDC1 (G573S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279403	NM_032532.3(FNDC1):c.1729G>A (p.Val577Ile)	FNDC1 (V577I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549159	NM_032532.3(FNDC1):c.1763T>G (p.Met588Arg)	FNDC1 (M588R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524865	NM_032532.3(FNDC1):c.1834G>A (p.Ala612Thr)	FNDC1 (A612T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3096016	NM_032532.3(FNDC1):c.1841C>T (p.Pro614Leu)	FNDC1 (P614L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717219	NM_032532.3(FNDC1):c.1923C>A (p.Asp641Glu)	FNDC1 (D641E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2389887	NM_032532.3(FNDC1):c.1944C>G (p.Asp648Glu)	FNDC1 (D648E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2465474	NM_032532.3(FNDC1):c.1961T>G (p.Val654Gly)	FNDC1 (V654G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613740	NM_032532.3(FNDC1):c.1975C>T (p.Pro659Ser)	FNDC1 (P659S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279401	NM_032532.3(FNDC1):c.1991C>A (p.Ala664Asp)	FNDC1 (A664D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214465	NM_032532.3(FNDC1):c.2020C>T (p.Arg674Cys)	FNDC1 (R674C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529505	NM_032532.3(FNDC1):c.2047G>C (p.Asp683His)	FNDC1 (D683H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657095	NM_032532.3(FNDC1):c.2085G>T (p.Ser695=)	FNDC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3096018	NM_032532.3(FNDC1):c.2086C>G (p.Pro696Ala)	FNDC1 (P696A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519281	NM_032532.3(FNDC1):c.2087C>A (p.Pro696Gln)	FNDC1 (P696Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271426	NM_032532.3(FNDC1):c.2090C>G (p.Ala697Gly)	FNDC1 (A697G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279402	NM_032532.3(FNDC1):c.2245G>A (p.Asp749Asn)	FNDC1 (D749N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096019	NM_032532.3(FNDC1):c.2276C>T (p.Ser759Leu)	FNDC1 (S759L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517839	NM_032532.3(FNDC1):c.2284A>G (p.Thr762Ala)	FNDC1 (T762A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297688	NM_032532.3(FNDC1):c.2300T>A (p.Val767Asp)	FNDC1 (V767D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260454	NM_032532.3(FNDC1):c.2347G>C (p.Ala783Pro)	FNDC1 (A783P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236481	NM_032532.3(FNDC1):c.2355T>A (p.Asp785Glu)	FNDC1 (D785E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475753	NM_032532.3(FNDC1):c.2374G>C (p.Gly792Arg)	FNDC1 (G792R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096020	NM_032532.3(FNDC1):c.2566C>G (p.Arg856Gly)	FNDC1 (R856G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217099	NM_032532.3(FNDC1):c.2584C>T (p.Pro862Ser)	FNDC1 (P862S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789186	NM_032532.3(FNDC1):c.2650C>T (p.Pro884Ser)	FNDC1 (P884S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2495823	NM_032532.3(FNDC1):c.2683C>T (p.Pro895Ser)	FNDC1 (P895S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2328250	NM_032532.3(FNDC1):c.2804A>G (p.Asp935Gly)	FNDC1 (D935G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2412144	NM_032532.3(FNDC1):c.2914A>T (p.Thr972Ser)	FNDC1 (T972S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273321	NM_032532.3(FNDC1):c.2921G>A (p.Arg974His)	FNDC1 (R974H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596775	NM_032532.3(FNDC1):c.2953C>G (p.Arg985Gly)	FNDC1 (R985G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096023	NM_032532.3(FNDC1):c.2956T>G (p.Ser986Ala)	FNDC1 (S986A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709828	NM_032532.3(FNDC1):c.2995G>A (p.Gly999Ser)	FNDC1 (G999S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2279605	NM_032532.3(FNDC1):c.3004C>G (p.Pro1002Ala)	FNDC1 (P1002A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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