29832[HGNC] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 116

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153941	GRCh38/hg38 11q13.2-13.4(chr11:68031693-71593495)x1	ACTE1P, ANO1 +184 more	Copy number loss	See cases	GLikely pathogenic
Select item 58164	GRCh38/hg38 11q13.4(chr11:71164008-72309374)x3	ACTE1P, ANAPC15 +67 more	Copy number gain	See cases	GUncertain significance
Select item 197725	NM_001360.3(DHCR7):c.376G>A (p.Val126Ile)	DHCR7, NADSYN1 (V126I)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 93726	NM_001360.3(DHCR7):c.99-4G>A	DHCR7, NADSYN1	Single nucleotide variant (intron variant)	Smith-Lemli-Opitz syndrome +3 more	GBenign/Likely benign
Select item 2434024	NM_018161.5(NADSYN1):c.-690G>A	NADSYN1	Single nucleotide variant	Vertebral, cardiac, renal, and limb defects syndrome 3	GUncertain significance
Select item 3173363	NM_018161.5(NADSYN1):c.82A>G (p.Lys28Glu)	NADSYN1 (K28E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3351528	NM_018161.5(NADSYN1):c.85+1G>C	NADSYN1	Single nucleotide variant (splice donor variant)	NADSYN1-related disorder	GUncertain significance
Select item 1176583	NM_018161.5(NADSYN1):c.86-2A>C	NADSYN1	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 3298369	NM_018161.5(NADSYN1):c.101A>G (p.Lys34Arg)	NADSYN1 (K34R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 869157	NM_018161.5(NADSYN1):c.145T>C (p.Cys49Arg)	NADSYN1 (C49R)	Single nucleotide variant (missense variant)	Vertebral, cardiac, renal, and limb defects syndrome 3	GPathogenic
Select item 3352737	NM_018161.5(NADSYN1):c.179C>T (p.Ser60Leu)	NADSYN1 (S60L)	Single nucleotide variant (missense variant)	NADSYN1-related disorder	GUncertain significance
Select item 3173304	NM_018161.5(NADSYN1):c.197C>T (p.Ser66Leu)	NADSYN1 (S66L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1248202	NM_018161.5(NADSYN1):c.220G>C (p.Val74Leu)	NADSYN1 (V74L)	Single nucleotide variant (missense variant)	Vertebral, cardiac, renal, and limb defects syndrome 3 +1 more	GBenign
Select item 1309574	NM_018161.5(NADSYN1):c.253G>A (p.Asp85Asn)	NADSYN1 (D85N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2320751	NM_018161.5(NADSYN1):c.254A>G (p.Asp85Gly)	NADSYN1 (D85G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1321836	NM_018161.5(NADSYN1):c.264-26A>G	NADSYN1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1309754	NM_018161.5(NADSYN1):c.271del (p.Met91fs)	NADSYN1 (M91fs)	Deletion (frameshift variant)	Vertebral, cardiac, renal, and limb defects syndrome 3 +1 more	GConflicting classifications of pathogenicity
Select item 1321837	NM_018161.5(NADSYN1):c.317+22C>T	NADSYN1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2218709	NM_018161.5(NADSYN1):c.343A>G (p.Met115Val)	NADSYN1 (M115V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245189	NM_018161.5(NADSYN1):c.346G>T (p.Ala116Ser)	NADSYN1 (A116S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262631	NM_018161.5(NADSYN1):c.370C>T (p.Arg124Cys)	NADSYN1 (R124C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342520	NM_018161.5(NADSYN1):c.379C>T (p.Arg127Cys)	NADSYN1 (R127C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2385168	NM_018161.5(NADSYN1):c.384G>T (p.Trp128Cys)	NADSYN1 (W128C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3025011	NM_018161.5(NADSYN1):c.393G>A (p.Pro131=)	NADSYN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 869158	NM_018161.5(NADSYN1):c.395G>T (p.Trp132Leu)	NADSYN1 (W132L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1321838	NM_018161.5(NADSYN1):c.408-21C>T	NADSYN1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1321839	NM_018161.5(NADSYN1):c.408-18C>T	NADSYN1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 3354029	NM_018161.5(NADSYN1):c.463_477del (p.Thr155_Gly159del)	NADSYN1	Deletion (inframe_deletion)	NADSYN1-related disorder	GUncertain significance
Select item 3298370	NM_018161.5(NADSYN1):c.470C>A (p.Pro157His)	NADSYN1 (P157H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354129	NM_018161.5(NADSYN1):c.508A>C (p.Ile170Leu)	NADSYN1 (I170L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1699308	NM_018161.5(NADSYN1):c.524G>A (p.Cys175Tyr)	NADSYN1 (C175Y)	Single nucleotide variant (missense variant)	Vertebral, cardiac, renal, and limb defects syndrome 3	GPathogenic/Likely pathogenic
Select item 2396845	NM_018161.5(NADSYN1):c.551C>T (p.Pro184Leu)	NADSYN1 (P184L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408743	NM_018161.5(NADSYN1):c.562A>G (p.Met188Val)	NADSYN1 (M188V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3358552	NM_018161.5(NADSYN1):c.577G>A (p.Val193Met)	NADSYN1 (V193M)	Single nucleotide variant (missense variant)	NADSYN1-related disorder	GUncertain significance
Select item 1321840	NM_018161.5(NADSYN1):c.612A>C (p.Gln204His)	NADSYN1 (Q204H)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2489329	NM_018161.5(NADSYN1):c.620G>A (p.Arg207His)	NADSYN1 (R207H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205397	NM_018161.5(NADSYN1):c.629A>C (p.Asn210Thr)	NADSYN1 (N210T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2501362	NM_018161.5(NADSYN1):c.636G>C (p.Arg212Ser)	NADSYN1 (R212S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2569615	NM_018161.5(NADSYN1):c.652A>G (p.Met218Val)	NADSYN1 (M218V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491055	NM_018161.5(NADSYN1):c.653T>C (p.Met218Thr)	NADSYN1 (M218T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3051815	NM_018161.5(NADSYN1):c.669C>T (p.Asn223=)	NADSYN1	Single nucleotide variant (synonymous variant)	NADSYN1-related disorder	GLikely benign
Select item 1229671	NM_018161.5(NADSYN1):c.705T>C (p.Cys235=)	NADSYN1	Single nucleotide variant (synonymous variant)	Vertebral, cardiac, renal, and limb defects syndrome 3 +1 more	GBenign
Select item 834713	NM_018161.5(NADSYN1):c.735T>A (p.Cys245Ter)	NADSYN1 (C245*)	Single nucleotide variant (nonsense)	Vertebral, cardiac, renal, and limb defects syndrome 3 +1 more	GPathogenic
Select item 3298368	NM_018161.5(NADSYN1):c.741G>A (p.Met247Ile)	NADSYN1 (M247I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1264964	NM_018161.5(NADSYN1):c.744T>C (p.Ile248=)	NADSYN1	Single nucleotide variant (synonymous variant)	Vertebral, cardiac, renal, and limb defects syndrome 3 +1 more	GBenign
Select item 3173358	NM_018161.5(NADSYN1):c.760G>A (p.Val254Ile)	NADSYN1 (V254I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1309462	NM_018161.5(NADSYN1):c.775T>A (p.Ser259Thr)	NADSYN1 (S259T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3298366	NM_018161.5(NADSYN1):c.796G>A (p.Val266Met)	NADSYN1 (V266M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1321841	NM_018161.5(NADSYN1):c.799-5T>C	NADSYN1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2444014	NM_018161.5(NADSYN1):c.799-2A>G	NADSYN1	Single nucleotide variant (splice acceptor variant)	Vertebral, cardiac, renal, and limb defects syndrome 1	GUncertain significance
Select item 2501595	NM_018161.5(NADSYN1):c.835C>T (p.Arg279Trp)	NADSYN1 (R279W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3173368	NM_018161.5(NADSYN1):c.872C>T (p.Ala291Val)	NADSYN1 (A291V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2642106	NM_018161.5(NADSYN1):c.924G>A (p.Ser308=)	NADSYN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 787380	NM_018161.5(NADSYN1):c.924G>C (p.Ser308=)	NADSYN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3173211	NM_018161.5(NADSYN1):c.1012T>C (p.Cys338Arg)	NADSYN1 (C338R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3173215	NM_018161.5(NADSYN1):c.1022G>C (p.Trp341Ser)	NADSYN1 (W341S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3298367	NM_018161.5(NADSYN1):c.1087G>T (p.Ala363Ser)	NADSYN1 (A363S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2575904	NM_018161.5(NADSYN1):c.1088C>T (p.Ala363Val)	NADSYN1 (A363V)	Single nucleotide variant (missense variant)	Vertebral, cardiac, renal, and limb defects syndrome 3	GLikely pathogenic
Select item 3173221	NM_018161.5(NADSYN1):c.1102C>T (p.Leu368Phe)	NADSYN1 (L368F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251940	NM_018161.5(NADSYN1):c.1112C>G (p.Ser371Cys)	NADSYN1 (S371C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2557377	NM_018161.5(NADSYN1):c.1132G>A (p.Glu378Lys)	NADSYN1 (E378K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 710355	NM_018161.5(NADSYN1):c.1138G>A (p.Val380Met)	NADSYN1 (V380M)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2552986	NM_018161.5(NADSYN1):c.1166C>T (p.Ala389Val)	NADSYN1 (A389V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2434023	NM_018161.5(NADSYN1):c.1189C>T (p.Gln397Ter)	NADSYN1 (Q397*)	Single nucleotide variant (nonsense)	Vertebral, cardiac, renal, and limb defects syndrome 3	GUncertain significance
Select item 2400358	NM_018161.5(NADSYN1):c.1197C>G (p.Ser399Arg)	NADSYN1 (S399R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3173235	NM_018161.5(NADSYN1):c.1207C>A (p.Gln403Lys)	NADSYN1 (Q403K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604818	NM_018161.5(NADSYN1):c.1216C>G (p.Arg406Gly)	NADSYN1 (R406G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3067835	NM_018161.5(NADSYN1):c.1247G>T (p.Cys416Phe)	NADSYN1 (C416F)	Single nucleotide variant (missense variant)	Vertebral, cardiac, renal, and limb defects syndrome 3	GUncertain significance
Select item 2511886	NM_018161.5(NADSYN1):c.1280C>T (p.Thr427Met)	NADSYN1 (T427M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385058	NM_018161.5(NADSYN1):c.1288C>T (p.Arg430Trp)	NADSYN1 (R430W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3173254	NM_018161.5(NADSYN1):c.1309C>G (p.Gln437Glu)	NADSYN1 (Q437E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3298365	NM_018161.5(NADSYN1):c.1320C>A (p.Ser440Arg)	NADSYN1 (S440R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 779207	NM_018161.5(NADSYN1):c.1341C>T (p.Ile447=)	NADSYN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3043322	NM_018161.5(NADSYN1):c.1360G>A (p.Val454Ile)	NADSYN1 (V454I)	Single nucleotide variant (missense variant)	NADSYN1-related disorder	GLikely benign
Select item 2323161	NM_018161.5(NADSYN1):c.1371C>G (p.Ile457Met)	NADSYN1 (I457M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282567	NM_018161.5(NADSYN1):c.1439C>T (p.Ala480Val)	NADSYN1 (A480V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 998169	NM_018161.5(NADSYN1):c.1459C>T (p.Arg487Ter)	NADSYN1 (R487*)	Single nucleotide variant (nonsense)	Vertebral, cardiac, renal, and limb defects syndrome 3	GPathogenic/Likely pathogenic
Select item 2596831	NM_018161.5(NADSYN1):c.1477G>A (p.Ala493Thr)	NADSYN1 (A493T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3173263	NM_018161.5(NADSYN1):c.1550A>G (p.Asn517Ser)	NADSYN1 (N517S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2434022	NM_018161.5(NADSYN1):c.1621G>A (p.Gly541Arg)	NADSYN1 (G541R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2545364	NM_018161.5(NADSYN1):c.1644G>C (p.Arg548Ser)	NADSYN1 (R548S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342459	NM_018161.5(NADSYN1):c.1651G>A (p.Val551Ile)	NADSYN1 (V551I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3055222	NM_018161.5(NADSYN1):c.1695-7G>T	NADSYN1	Single nucleotide variant (intron variant)	NADSYN1-related disorder	GLikely benign
Select item 834710	NM_018161.5(NADSYN1):c.1717G>A (p.Ala573Thr)	NADSYN1 (A573T)	Single nucleotide variant (missense variant)	Vertebral, cardiac, renal, and limb defects syndrome 3 +2 more	GPathogenic/Likely pathogenic
Select item 2310273	NM_018161.5(NADSYN1):c.1741G>A (p.Gly581Arg)	NADSYN1 (G581R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2575903	NM_018161.5(NADSYN1):c.1759G>A (p.Asp587Asn)	NADSYN1 (D587N)	Single nucleotide variant (missense variant)	Vertebral, cardiac, renal, and limb defects syndrome 3	GLikely pathogenic
Select item 2442205	NM_018161.5(NADSYN1):c.1765-7T>A	NADSYN1	Single nucleotide variant (intron variant)	Vertebral, cardiac, renal, and limb defects syndrome 3	GConflicting classifications of pathogenicity
Select item 734829	NM_018161.5(NADSYN1):c.1773G>A (p.Met591Ile)	NADSYN1 (M591I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2689523	NM_018161.5(NADSYN1):c.1787C>T (p.Ala596Val)	NADSYN1 (A596V)	Single nucleotide variant (missense variant)	Vertebral, cardiac, renal, and limb defects syndrome 3	GUncertain significance
Select item 2224482	NM_018161.5(NADSYN1):c.1796C>T (p.Ser599Leu)	NADSYN1 (S599L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288230	NM_018161.5(NADSYN1):c.1802A>G (p.Tyr601Cys)	NADSYN1 (Y601C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 834711	NM_018161.5(NADSYN1):c.1819del (p.Val607fs)	NADSYN1 (V607fs)	Deletion (frameshift variant)	Vertebral, cardiac, renal, and limb defects syndrome 3 +1 more	GPathogenic
Select item 2390852	NM_018161.5(NADSYN1):c.1822G>A (p.Ala608Thr)	NADSYN1 (A608T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 834715	NM_018161.5(NADSYN1):c.1839C>G (p.Tyr613Ter)	NADSYN1 (Y613*)	Single nucleotide variant (nonsense)	Vertebral, cardiac, renal, and limb defects syndrome 3 +1 more	GPathogenic
Select item 734323	NM_018161.5(NADSYN1):c.1860C>T (p.Leu620=)	NADSYN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1700396	NM_018161.5(NADSYN1):c.1861G>A (p.Gly621Ser)	NADSYN1 (G621S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2293053	NM_018161.5(NADSYN1):c.1879T>C (p.Cys627Arg)	NADSYN1 (C627R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 781024	NM_018161.5(NADSYN1):c.1887G>A (p.Pro629=)	NADSYN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 779208	NM_018161.5(NADSYN1):c.1894-10C>T	NADSYN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2386314	NM_018161.5(NADSYN1):c.1897G>A (p.Ala633Thr)	NADSYN1 (A633T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

<< First< Prev

Page of 2