3086[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	TRARG1, TRPV1 +651 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	LOC130059937, LOC130059938 +604 more	Copy number gain	See cases	GPathogenic
Select item 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	ACADVL, ACAP1 +461 more	Copy number gain	See cases	GPathogenic
Select item 57356	GRCh38/hg38 17p13.2-13.1(chr17:5732977-8038822)x1	SPEM3, TEKT1 +229 more	Copy number loss	See cases	GPathogenic
Select item 149166	GRCh38/hg38 17p13.2-13.1(chr17:6361393-7750863)x3	ACADVL, ACAP1 +182 more	Copy number gain	See cases	GLikely pathogenic
Select item 150350	GRCh38/hg38 17p13.1(chr17:6891357-7264234)x3	ACADVL, ALOX12 +53 more	Copy number gain	See cases	GUncertain significance
Select item 144281	GRCh38/hg38 17p13.1(chr17:6958978-7491129)x3	ACADVL, ACAP1 +106 more	Copy number gain	See cases	GUncertain significance
Select item 59582	GRCh38/hg38 17p13.1(chr17:7210345-7496934)x1	ACADVL, ACAP1 +72 more	Copy number loss	See cases	GPathogenic
Select item 21017	NM_000018.4(ACADVL):c.1405C>T (p.Arg469Trp)	ACADVL, DVL2 (R469W +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic FDA Recognized database
Select item 474888	NM_000018.4(ACADVL):c.1468G>C (p.Ala490Pro)	ACADVL, DVL2 (A490P +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic FDA Recognized database
Select item 1726481	NM_000018.4(ACADVL):c.1632del (p.Thr545fs)	ACADVL, DVL2 (T469fs +3 more)	Deletion (frameshift variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 1725435	NM_000018.4(ACADVL):c.1748C>A (p.Ser583Ter)	ACADVL, DVL2 (S507* +3 more)	Single nucleotide variant (nonsense)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 1268063	NC_000017.11:g.7225357G>A	ACADVL, DVL2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1195261	NC_000017.11:g.7225408C>T	ACADVL, DVL2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 3086393	NM_004422.3(DVL2):c.2206A>T (p.Met736Leu)	DVL2 (M736L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086392	NM_004422.3(DVL2):c.2185A>C (p.Ser729Arg)	DVL2 (S729R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086391	NM_004422.3(DVL2):c.2096C>T (p.Pro699Leu)	DVL2 (P699L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274122	NM_004422.3(DVL2):c.2068C>T (p.Pro690Ser)	DVL2 (P690S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086390	NM_004422.3(DVL2):c.1886G>A (p.Gly629Asp)	DVL2 (G629D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533320	NM_004422.3(DVL2):c.1880G>A (p.Arg627Gln)	DVL2 (R627Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247449	NM_004422.3(DVL2):c.1831G>T (p.Ala611Ser)	DVL2 (A611S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086389	NM_004422.3(DVL2):c.1826A>G (p.Glu609Gly)	DVL2 (E609G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466140	NM_004422.3(DVL2):c.1814G>C (p.Gly605Ala)	DVL2 (G605A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481946	NM_004422.3(DVL2):c.1796G>C (p.Gly599Ala)	DVL2 (G599A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300220	NM_004422.3(DVL2):c.1727A>G (p.Tyr576Cys)	DVL2 (Y576C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086387	NM_004422.3(DVL2):c.1724C>T (p.Thr575Ile)	DVL2 (T575I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086386	NM_004422.3(DVL2):c.1705C>T (p.His569Tyr)	DVL2 (H569Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1243912	NM_004422.3(DVL2):c.1662A>G (p.Gln554=)	DVL2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3086385	NM_004422.3(DVL2):c.1658A>T (p.Tyr553Phe)	DVL2 (Y553F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057007	NM_004422.3(DVL2):c.1604C>T (p.Thr535Ile)	DVL2 (T535I)	Single nucleotide variant (missense variant)	DVL2-related disorder	GBenign
Select item 1182212	NM_004422.3(DVL2):c.1544-16T>C	DVL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2232736	NM_004422.3(DVL2):c.1414C>T (p.Arg472Trp)	DVL2 (R472W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274119	NM_004422.3(DVL2):c.1396G>A (p.Val466Met)	DVL2 (V466M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409398	NM_004422.3(DVL2):c.1258C>T (p.His420Tyr)	DVL2 (H420Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086384	NM_004422.3(DVL2):c.1255G>T (p.Val419Phe)	DVL2 (V419F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239874	NM_004422.3(DVL2):c.1255G>A (p.Val419Ile)	DVL2 (V419I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 728976	NM_004422.3(DVL2):c.1244G>A (p.Arg415Gln)	DVL2 (R415Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3086383	NM_004422.3(DVL2):c.1243C>T (p.Arg415Trp)	DVL2 (R415W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547297	NM_004422.3(DVL2):c.1153G>A (p.Ala385Thr)	DVL2 (A385T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274115	NM_004422.3(DVL2):c.1151C>T (p.Ala384Val)	DVL2 (A384V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274114	NM_004422.3(DVL2):c.1100G>A (p.Arg367Gln)	DVL2 (R367Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604939	NM_004422.3(DVL2):c.1061G>A (p.Cys354Tyr)	DVL2 (C354Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775159	NM_004422.3(DVL2):c.1035-8C>T	DVL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2361842	NM_004422.3(DVL2):c.1018A>G (p.Ile340Val)	DVL2 (I340V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286338	NM_004422.3(DVL2):c.967A>T (p.Met323Leu)	DVL2 (M323L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 779364	NM_004422.3(DVL2):c.951T>C (p.Leu317=)	DVL2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3086400	NM_004422.3(DVL2):c.931A>G (p.Ile311Val)	DVL2 (I311V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312974	NM_004422.3(DVL2):c.882C>G (p.Ile294Met)	DVL2 (I294M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274121	NM_004422.3(DVL2):c.806C>G (p.Thr269Arg)	DVL2 (T269R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388372	NM_004422.3(DVL2):c.790A>G (p.Asn264Asp)	DVL2 (N264D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647322	NM_004422.3(DVL2):c.750G>A (p.Thr250=)	DVL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3035022	NM_004422.3(DVL2):c.748-8C>T	DVL2	Single nucleotide variant (intron variant)	DVL2-related disorder	GLikely benign
Select item 3274120	NM_004422.3(DVL2):c.689C>T (p.Ser230Phe)	DVL2, LOC126862480 (S230F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038109	NM_004422.3(DVL2):c.656+8T>G	DVL2, LOC126862480	Single nucleotide variant (intron variant)	DVL2-related disorder	GLikely benign
Select item 3086399	NM_004422.3(DVL2):c.647C>T (p.Thr216Ile)	DVL2, LOC126862480 (T216I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536876	NM_004422.3(DVL2):c.636C>G (p.Asp212Glu)	DVL2, LOC126862480 (D212E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086398	NM_004422.3(DVL2):c.622C>G (p.Leu208Val)	DVL2, LOC126862480 (L208V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 511152	NM_004422.3(DVL2):c.621C>T (p.Ser207=)	DVL2, LOC126862480	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 3046278	NM_004422.3(DVL2):c.579G>A (p.Glu193=)	DVL2, LOC126862480	Single nucleotide variant (synonymous variant)	DVL2-related disorder	GLikely benign
Select item 2212050	NM_004422.3(DVL2):c.559C>T (p.Arg187Cys)	DVL2, LOC126862480 (R187C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086397	NM_004422.3(DVL2):c.542G>A (p.Gly181Asp)	DVL2, LOC126862480 (G181D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492792	NM_004422.3(DVL2):c.481C>T (p.Arg161Trp)	DVL2, LOC126862480 (R161W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279789	NM_004422.3(DVL2):c.442G>C (p.Glu148Gln)	DVL2, LOC126862480 (E148Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056184	NM_004422.3(DVL2):c.410+10T>C	DVL2, LOC126862480	Single nucleotide variant (intron variant)	DVL2-related disorder	GBenign
Select item 3060815	NM_004422.3(DVL2):c.405C>T (p.Ser135=)	DVL2, LOC126862480	Single nucleotide variant (synonymous variant)	DVL2-related disorder	GBenign
Select item 3086396	NM_004422.3(DVL2):c.383T>C (p.Ile128Thr)	DVL2, LOC126862480 (I128T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245551	NM_004422.3(DVL2):c.374C>T (p.Thr125Ile)	DVL2, LOC126862480 (T125I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520624	NM_004422.3(DVL2):c.356C>T (p.Pro119Leu)	DVL2, LOC126862480 (P119L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274113	NM_004422.3(DVL2):c.341C>T (p.Ala114Val)	DVL2, LOC126862480 (A114V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057425	NM_004422.3(DVL2):c.332C>T (p.Ala111Val)	DVL2, LOC126862480 (A111V)	Single nucleotide variant (missense variant)	DVL2-related disorder	GLikely benign
Select item 3086394	NM_004422.3(DVL2):c.301C>T (p.Pro101Ser)	DVL2, LOC126862480 (P101S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593353	NM_004422.3(DVL2):c.289C>T (p.Pro97Ser)	DVL2, LOC126862480 (P97S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274118	NM_004422.3(DVL2):c.272C>A (p.Ser91Tyr)	DVL2, LOC126862480 (S91Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044997	NM_004422.3(DVL2):c.230G>A (p.Arg77His)	DVL2 (R77H)	Single nucleotide variant (missense variant)	DVL2-related disorder	GLikely benign
Select item 3049819	NM_004422.3(DVL2):c.213T>A (p.Ile71=)	DVL2	Single nucleotide variant (synonymous variant)	DVL2-related disorder	GLikely benign
Select item 2294784	NM_004422.3(DVL2):c.178A>G (p.Met60Val)	DVL2 (M60V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 724111	NM_004422.3(DVL2):c.158C>T (p.Ala53Val)	DVL2 (A53V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3086382	NM_004422.3(DVL2):c.106G>C (p.Glu36Gln)	DVL2 (E36Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620287	NM_004422.3(DVL2):c.53A>G (p.Tyr18Cys)	DVL2 (Y18C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086395	NM_004422.3(DVL2):c.32T>C (p.Val11Ala)	DVL2 (V11A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3046093	NM_004422.3(DVL2):c.24C>T (p.Gly8=)	DVL2	Single nucleotide variant (synonymous variant)	DVL2-related disorder	GLikely benign
Select item 2316485	NM_004422.3(DVL2):c.14G>T (p.Ser5Ile)	DVL2 (S5I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3047696	NM_004422.3(DVL2):c.-4G>C	DVL2, LOC130060114	Single nucleotide variant (5 prime UTR variant)	DVL2-related disorder	GLikely benign
Select item 3243205	NC_000017.10:g.(?_422368)_(8285628_?)dup	FBXO39, FGF11 +209 more	Duplication	not provided	GUncertain significance
Select item 3243103	NC_000017.10:g.(?_7123304)_(7360042_?)del	ACADVL, ACAP1 +23 more	Deletion	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 3242525	Single allele	PHF23, YBX2 +13 more	Deletion	Faundes-Banka syndrome	GPathogenic
Select item 3063511	GRCh37/hg19 17p13.1(chr17:7002380-7469251)x1	PHF23, PLSCR3 +32 more	Copy number loss	not specified	GPathogenic
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 2498727	GRCh37/hg19 17p13.1(chr17:7004894-7766789)x1	ACADVL, ACAP1 +48 more	Copy number loss	not provided	GPathogenic
Select item 2424768	NC_000017.10:g.(?_7123304)_(7606804_?)del	ACADVL, ACAP1 +40 more	Deletion	Common variable immunodeficiency	GUncertain significance
Select item 2423278	NC_000017.10:g.(?_7120455)_(8151423_?)del	ALOX15B, ALOXE3 +66 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 2422139	NC_000017.10:g.(?_7123304)_(8193254_?)del	ACADVL, ACAP1 +69 more	Deletion	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 2422136	NC_000017.10:g.(?_6328780)_(7606804_?)dup	ACADVL, ACAP1 +62 more	Duplication	Very long chain acyl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 1809052	GRCh37/hg19 17p13.1(chr17:7043719-7193448)x3	ACADVL, ASGR1 +9 more	Copy number gain	not provided	GUncertain significance
Select item 1526566	GRCh37/hg19 17p13.1(chr17:7020054-8086290)	ACADVL, ACAP1 +64 more	Copy number loss	not specified	GPathogenic
Select item 980124	GRCh37/hg19 17p13.1(chr17:7014481-7283233)x1	GPS2, NEURL4 +16 more	Copy number loss	not provided	GPathogenic
Select item 980123	GRCh37/hg19 17p13.1(chr17:6650649-8040151)x3	TMEM102, TNFSF12 +74 more	Copy number gain	not provided	GPathogenic

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