20041[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58889	GRCh38/hg38 11p13-11.2(chr11:35663578-46959820)x1	ACCS, ACCSL +225 more	Copy number loss	See cases	GPathogenic
Select item 148316	GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1	ACCS, ACCSL +265 more	Copy number loss	See cases	GPathogenic
Select item 146079	GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1	ACCS, ACCSL +259 more	Copy number loss	See cases	GPathogenic
Select item 150595	GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3	ACCS, ACCSL +255 more	Copy number gain	See cases	GLikely pathogenic
Select item 152826	GRCh38/hg38 11p11.2(chr11:46420955-46728372)x3	AMBRA1, ARHGAP1 +13 more	Copy number gain	See cases	GUncertain significance
Select item 560080	Single allele	AMBRA1, ARHGAP1 +8 more	Deletion	not provided	GUncertain significance
Select item 1276936	NC_000011.10:g.46700671T>C	ZNF408	Single nucleotide variant	not provided	GBenign
Select item 183054	NM_024741.2(ZNF408):c.-214_-210delGAATC	LOC130005659, ZNF408	Deletion	Exudative vitreoretinopathy 1	GUncertain significance
Select item 1266469	NC_000011.10:g.46700926C>T	LOC130005659, ZNF408	Single nucleotide variant	not provided	GBenign
Select item 183055	NM_024741.2(ZNF408):c.-111C>A	LOC130005659, ZNF408	Single nucleotide variant	Exudative vitreoretinopathy 1	GUncertain significance
Select item 1178051	NC_000011.10:g.46700939G>A	LOC130005659, ZNF408	Single nucleotide variant	not provided	GBenign
Select item 1494516	NM_024741.3(ZNF408):c.2T>C (p.Met1Thr)	LOC130005659, ZNF408 (M1T)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1056401	NM_024741.3(ZNF408):c.4G>A (p.Glu2Lys)	LOC130005659, ZNF408 (E2K)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1384045	NM_024741.3(ZNF408):c.5A>T (p.Glu2Val)	LOC130005659, ZNF408 (E2V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 835031	NM_024741.3(ZNF408):c.20T>C (p.Leu7Pro)	LOC130005659, ZNF408 (L7P)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 846343	NM_024741.3(ZNF408):c.26T>C (p.Leu9Ser)	LOC130005659, ZNF408 (L9S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 968478	NM_024741.3(ZNF408):c.30G>C (p.Glu10Asp)	LOC130005659, ZNF408 (E10D)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2123566	NM_024741.3(ZNF408):c.31G>A (p.Gly11Arg)	LOC130005659, ZNF408 (G11R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 734094	NM_024741.3(ZNF408):c.33G>A (p.Gly11=)	LOC130005659, ZNF408	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1116789	NM_024741.3(ZNF408):c.35A>G (p.Lys12Arg)	LOC130005659, ZNF408 (K12R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1009302	NM_024741.3(ZNF408):c.36G>C (p.Lys12Asn)	LOC130005659, ZNF408 (K12N)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1660710	NM_024741.3(ZNF408):c.43C>T (p.Leu15=)	LOC130005659, ZNF408	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 957306	NM_024741.3(ZNF408):c.44T>A (p.Leu15Gln)	LOC130005659, ZNF408 (L15Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1666191	NM_024741.3(ZNF408):c.45G>A (p.Leu15=)	LOC130005659, ZNF408	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2797546	NM_024741.3(ZNF408):c.46C>T (p.Gln16Ter)	LOC130005659, ZNF408 (Q16*)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1624752	NM_024741.3(ZNF408):c.48A>G (p.Gln16=)	LOC130005659, ZNF408	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 966481	NM_024741.3(ZNF408):c.51C>T (p.Leu17=)	LOC130005659, ZNF408	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 961044	NM_024741.3(ZNF408):c.52G>A (p.Ala18Thr)	LOC130005659, ZNF408 (A18T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1897967	NM_024741.3(ZNF408):c.52+10C>T	LOC130005659, ZNF408	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1652590	NM_024741.3(ZNF408):c.52+19C>T	ZNF408 (S2F)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1206255	NM_024741.3(ZNF408):c.52+36G>C	ZNF408 (G8R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1274687	NM_024741.3(ZNF408):c.52+82T>C	ZNF408	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1638504	NM_024741.3(ZNF408):c.53-14C>T	ZNF408	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1995226	NM_024741.3(ZNF408):c.53-13C>T	ZNF408	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1148407	NM_024741.3(ZNF408):c.53-11TC[2]	ZNF408	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1661288	NM_024741.3(ZNF408):c.53-10C>T	ZNF408	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2853041	NM_024741.3(ZNF408):c.53-5T>A	ZNF408	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1648374	NM_024741.3(ZNF408):c.53-4G>A	ZNF408	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1044485	NM_024741.3(ZNF408):c.53C>T (p.Ala18Val)	ZNF408 (A10V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1654027	NM_024741.3(ZNF408):c.54C>G (p.Ala18=)	ZNF408	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2818162	NM_024741.3(ZNF408):c.55C>G (p.Arg19Gly)	ZNF408 (R19G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1632448	NM_024741.3(ZNF408):c.66C>T (p.Arg22=)	ZNF408	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1462302	NM_024741.3(ZNF408):c.68T>C (p.Leu23Pro)	ZNF408 (L15P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2000756	NM_024741.3(ZNF408):c.71G>A (p.Gly24Asp)	ZNF408 (G16D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1473124	NM_024741.3(ZNF408):c.83G>A (p.Gly28Glu)	ZNF408 (G20E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 719685	NM_024741.3(ZNF408):c.84A>G (p.Gly28=)	ZNF408	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1438186	NM_024741.3(ZNF408):c.88A>G (p.Asn30Asp)	ZNF408 (N22D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2806655	NM_024741.3(ZNF408):c.97G>A (p.Gly33Arg)	ZNF408 (G25R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1927104	NM_024741.3(ZNF408):c.98G>T (p.Gly33Val)	ZNF408 (G25V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1607472	NM_024741.3(ZNF408):c.105C>T (p.Gly35=)	ZNF408	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1061746	NM_024741.3(ZNF408):c.109dup (p.Thr37fs)	ZNF408 (T29fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1175791	NM_024741.3(ZNF408):c.111del (p.Gln38fs)	ZNF408 (Q30fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1002046	NM_024741.3(ZNF408):c.115G>T (p.Gly39Cys)	ZNF408 (G31C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 942556	NM_024741.3(ZNF408):c.116G>A (p.Gly39Asp)	ZNF408 (G39D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2072077	NM_024741.3(ZNF408):c.117C>A (p.Gly39=)	ZNF408	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1364278	NM_024741.3(ZNF408):c.118C>G (p.Leu40Val)	ZNF408 (L32V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1476568	NM_024741.3(ZNF408):c.122A>G (p.Lys41Arg)	ZNF408 (K41R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 546664	NM_024741.3(ZNF408):c.126C>G (p.Asp42Glu)	ZNF408 (D42E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 934958	NM_024741.3(ZNF408):c.127G>A (p.Val43Ile)	ZNF408 (V35I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 183056	NM_024741.3(ZNF408):c.130C>T (p.Pro44Ser)	ZNF408 (P44S +1 more)	Single nucleotide variant (missense variant)	Exudative vitreoretinopathy 1	GUncertain significance
Select item 1009838	NM_024741.3(ZNF408):c.131C>T (p.Pro44Leu)	ZNF408 (P36L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1949826	NM_024741.3(ZNF408):c.133C>T (p.Pro45Ser)	ZNF408 (P37S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1434296	NM_024741.3(ZNF408):c.133C>A (p.Pro45Thr)	ZNF408 (P37T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2322077	NM_024741.3(ZNF408):c.134C>G (p.Pro45Arg)	ZNF408 (P37R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1937022	NM_024741.3(ZNF408):c.136G>C (p.Glu46Gln)	ZNF408 (E38Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2103804	NM_024741.3(ZNF408):c.138G>A (p.Glu46=)	ZNF408	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2025833	NM_024741.3(ZNF408):c.144C>T (p.Thr48=)	ZNF408	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2828134	NM_024741.3(ZNF408):c.146G>A (p.Arg49Gln)	ZNF408 (R41Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2794332	NM_024741.3(ZNF408):c.148G>A (p.Asp50Asn)	ZNF408 (D50N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2745663	NM_024741.3(ZNF408):c.156C>G (p.Leu52=)	ZNF408	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1421653	NM_024741.3(ZNF408):c.159_160insAAT (p.Ala53_Leu54insAsn)	ZNF408	Insertion (inframe_insertion)	not provided	GUncertain significance
Select item 1051001	NM_024741.3(ZNF408):c.163_166dup (p.Ser56fs)	ZNF408 (S48fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1498309	NM_024741.3(ZNF408):c.164A>T (p.Lys55Met)	ZNF408 (K47M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1109363	NM_024741.3(ZNF408):c.174C>T (p.Pro58=)	ZNF408	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984395	NM_024741.3(ZNF408):c.183G>A (p.Leu61=)	ZNF408	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1450117	NM_024741.3(ZNF408):c.184G>A (p.Ala62Thr)	ZNF408 (A54T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1903688	NM_024741.3(ZNF408):c.197C>A (p.Ser66Ter)	ZNF408 (S66* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1394268	NM_024741.3(ZNF408):c.199C>T (p.Leu67Phe)	ZNF408 (L59F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 786922	NM_024741.3(ZNF408):c.199C>G (p.Leu67Val)	ZNF408 (L67V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 933314	NM_024741.3(ZNF408):c.206A>G (p.Lys69Arg)	ZNF408 (K69R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1148906	NM_024741.3(ZNF408):c.213G>A (p.Gln71=)	ZNF408	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2302809	NM_024741.3(ZNF408):c.215G>T (p.Arg72Leu)	ZNF408 (R64L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1574382	NM_024741.3(ZNF408):c.219G>A (p.Leu73=)	ZNF408	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 965690	NM_024741.3(ZNF408):c.223G>C (p.Val75Leu)	ZNF408 (V75L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2852608	NM_024741.3(ZNF408):c.226T>A (p.Trp76Arg)	ZNF408 (W68R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1714565	NM_024741.3(ZNF408):c.232G>A (p.Val78Ile)	ZNF408 (V70I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1488169	NM_024741.3(ZNF408):c.235G>A (p.Gly79Arg)	ZNF408 (G71R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1123895	NM_024741.3(ZNF408):c.240C>T (p.Asp80=)	ZNF408	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3028199	NM_024741.3(ZNF408):c.243C>T (p.Pro81=)	ZNF408	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 1652394	NM_024741.3(ZNF408):c.244C>T (p.Leu82=)	ZNF408	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1962362	NM_024741.3(ZNF408):c.246G>A (p.Leu82=)	ZNF408	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1392024	NM_024741.3(ZNF408):c.250C>A (p.Pro84Thr)	ZNF408 (P76T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1520622	NM_024741.3(ZNF408):c.251C>T (p.Pro84Leu)	ZNF408 (P76L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1618267	NM_024741.3(ZNF408):c.256C>T (p.Leu86=)	ZNF408	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1927459	NM_024741.3(ZNF408):c.259C>T (p.Leu87=)	ZNF408	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1372447	NM_024741.3(ZNF408):c.260T>C (p.Leu87Pro)	ZNF408 (L79P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1005418	NM_024741.3(ZNF408):c.264G>T (p.Trp88Cys)	ZNF408 (W80C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 797356	NM_024741.3(ZNF408):c.276A>G (p.Glu92=)	ZNF408	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1363183	NM_024741.3(ZNF408):c.280del (p.Glu94fs)	ZNF408 (E94fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1997767	NM_024741.3(ZNF408):c.285T>C (p.Ser95=)	ZNF408	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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