ANK3[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 1287

<< First< Prev

Page of 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154900	GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3	A1CF, ADO +561 more	Copy number gain	See cases	GPathogenic
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 152646	GRCh38/hg38 10q21.1-21.3(chr10:55287177-67558442)x3	ADO, ANK3 +227 more	Copy number gain	See cases	GPathogenic
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic
Select item 3024480	NC_000010.11:g.(?_59792917)_(68231677_?)del	LOC124403968, LOC124403969 +220 more	Deletion	Intellectual developmental disorder, autosomal dominant 70	GLikely pathogenic
Select item 1192391	NM_020987.5(ANK3):c.*19+88G>T	ANK3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1192392	NM_020987.5(ANK3):c.*19+77T>A	ANK3	Single nucleotide variant (intron variant)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome +1 more	GBenign
Select item 1192393	NM_020987.5(ANK3):c.*19+56T>A	ANK3	Single nucleotide variant (intron variant)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome +1 more	GBenign
Select item 1192394	NM_020987.5(ANK3):c.*19+55T>A	ANK3	Single nucleotide variant (intron variant)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome +1 more	GBenign
Select item 434146	NM_020987.5(ANK3):c.*9G>C	ANK3	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 434145	NM_020987.5(ANK3):c.*9G>T	ANK3	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 930643	NM_020987.5(ANK3):c.13130C>T (p.Ser4377Leu)	ANK3 (S4377L +4 more)	Single nucleotide variant (missense variant)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome +1 more	GUncertain significance
Select item 388970	NM_020987.5(ANK3):c.13109A>T (p.His4370Leu)	ANK3 (H1854L +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2051098	NM_020987.5(ANK3):c.13107G>A (p.Arg4369=)	ANK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 434147	NM_020987.5(ANK3):c.13106G>A (p.Arg4369Gln)	ANK3 (R1853Q +4 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 1970325	NM_020987.5(ANK3):c.13105C>T (p.Arg4369Trp)	ANK3 (R1860W +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 434148	NM_020987.5(ANK3):c.13086G>A (p.Val4362=)	ANK3	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 1012780	NM_020987.5(ANK3):c.13082A>T (p.Lys4361Met)	ANK3 (K1845M +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3022818	NM_020987.5(ANK3):c.13066-12C>T	ANK3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192395	NM_020987.5(ANK3):c.13066-33T>A	ANK3	Single nucleotide variant (intron variant)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome +1 more	GBenign
Select item 1192428	NM_020987.5(ANK3):c.13066-44C>A	ANK3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1192429	NM_020987.5(ANK3):c.13066-62dup	ANK3	Duplication (intron variant)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome	GBenign
Select item 446050	NM_020987.5(ANK3):c.13065+20G>A	ANK3	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1908583	NM_020987.5(ANK3):c.13065+19C>T	ANK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1950946	NM_020987.5(ANK3):c.13065+12G>T	ANK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2535222	NM_020987.5(ANK3):c.13041G>C (p.Glu4347Asp)	ANK3 (E4347D +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271672	NM_020987.5(ANK3):c.13037A>G (p.Glu4346Gly)	ANK3 (E970G +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1405801	NM_020987.5(ANK3):c.13030C>T (p.His4344Tyr)	ANK3 (H1828Y +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 210145	NM_020987.5(ANK3):c.13026C>A (p.Ser4342Arg)	ANK3 (S1826R +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1329490	NM_020987.5(ANK3):c.13024A>C (p.Ser4342Arg)	ANK3 (S1826R +4 more)	Single nucleotide variant (missense variant)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome	GUncertain significance
Select item 3119742	NM_020987.5(ANK3):c.13004C>T (p.Ala4335Val)	ANK3 (A1819V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 716158	NM_020987.5(ANK3):c.12990T>C (p.Ser4330=)	ANK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2885496	NM_020987.5(ANK3):c.12989G>T (p.Ser4330Ile)	ANK3 (S1820I +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3119739	NM_020987.5(ANK3):c.12987G>A (p.Met4329Ile)	ANK3 (M953I +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1920793	NM_020987.5(ANK3):c.12974G>A (p.Ser4325Asn)	ANK3 (S1816N +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2043883	NM_020987.5(ANK3):c.12948A>C (p.Glu4316Asp)	ANK3 (E1806D +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2849331	NM_020987.5(ANK3):c.12936G>T (p.Lys4312Asn)	ANK3 (K1802N +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3295296	NM_020987.5(ANK3):c.12887C>G (p.Pro4296Arg)	ANK3 (P1780R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1958563	NM_020987.5(ANK3):c.12836C>T (p.Thr4279Ile)	ANK3 (T903I +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1547133	NM_020987.5(ANK3):c.12834T>C (p.Ser4278=)	ANK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3365601	NM_020987.5(ANK3):c.12823G>C (p.Gly4275Arg)	ANK3 (G1759R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 744727	NM_020987.5(ANK3):c.12822A>C (p.Val4274=)	ANK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1421857	NM_020987.5(ANK3):c.12819T>G (p.Asp4273Glu)	ANK3 (D1757E +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2711916	NM_020987.5(ANK3):c.12816T>C (p.Asn4272=)	ANK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2730596	NM_020987.5(ANK3):c.12813A>C (p.Gln4271His)	ANK3 (Q1761H +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 872692	NM_020987.5(ANK3):c.12788_12789del (p.Thr4263fs)	ANK3 (T4263fs +4 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3295389	NM_020987.5(ANK3):c.12782C>T (p.Ala4261Val)	ANK3 (A4261V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1509596	NM_020987.5(ANK3):c.12767_12769del (p.Glu4256_Ile4257delinsVal)	ANK3	Deletion (inframe_indel)	not provided	GUncertain significance
Select item 128363	NM_020987.5(ANK3):c.12769A>G (p.Ile4257Val)	ANK3 (I1741V +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 210143	NM_020987.5(ANK3):c.12752A>G (p.Asn4251Ser)	ANK3 (N1735S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2988090	NM_020987.5(ANK3):c.12740A>G (p.Lys4247Arg)	ANK3 (K1737R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2622482	NM_020987.5(ANK3):c.12728G>A (p.Gly4243Glu)	ANK3 (G1727E +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1192430	NM_020987.5(ANK3):c.12686+49A>C	ANK3	Single nucleotide variant (intron variant)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome +1 more	GBenign
Select item 2872671	NM_020987.5(ANK3):c.12678_12686+16dup	ANK3	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 1366734	NM_020987.5(ANK3):c.12674G>A (p.Arg4225Gln)	ANK3 (R1709Q +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2640483	NM_020987.5(ANK3):c.12672T>A (p.Asp4224Glu)	ANK3 (D1708E +4 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 387596	NM_020987.5(ANK3):c.12656C>G (p.Thr4219Ser)	ANK3 (T1703S +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2877515	NM_020987.5(ANK3):c.12650G>C (p.Arg4217Thr)	ANK3 (R4217T +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662724	NM_020987.5(ANK3):c.12649A>G (p.Arg4217Gly)	ANK3 (R1701G +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1908862	NM_020987.5(ANK3):c.12647G>A (p.Arg4216Gln)	ANK3 (R4216Q +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2589216	NM_020987.5(ANK3):c.12637G>A (p.Ala4213Thr)	ANK3 (A1704T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3253400	NM_020987.5(ANK3):c.12629A>C (p.Glu4210Ala)	ANK3 (E1694A +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1901016	NM_020987.5(ANK3):c.12603G>A (p.Gln4201=)	ANK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 451334	NM_020987.5(ANK3):c.12596-1G>A	ANK3	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2640484	NM_020987.5(ANK3):c.12596-306T>A	ANK3 (V1670E +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1711257	NM_020987.5(ANK3):c.12596-355G>T	ANK3 (D1654Y +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3034395	NM_020987.5(ANK3):c.12596-377T>C	ANK3	Single nucleotide variant (synonymous variant +1 more)	ANK3-related disorder	GBenign
Select item 932325	NM_020987.5(ANK3):c.12596-435G>A	ANK3 (G1634E +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1033564	NM_020987.5(ANK3):c.12596-480C>G	ANK3 (S1612C +3 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome	GUncertain significance
Select item 3041265	NM_020987.5(ANK3):c.12596-496T>G	ANK3 (Y1607D +3 more)	Single nucleotide variant (missense variant +1 more)	ANK3-related disorder	GLikely benign
Select item 1540573	NM_020987.5(ANK3):c.12595+20A>G	ANK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 434149	NM_020987.5(ANK3):c.12595+7G>A	ANK3	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3239430	NM_020987.5(ANK3):c.12587C>T (p.Pro4196Leu)	ANK3 (P1577L +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2130667	NM_020987.5(ANK3):c.12571A>G (p.Asn4191Asp)	ANK3 (N1578D +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1930336	NM_020987.5(ANK3):c.12569A>C (p.Asn4190Thr)	ANK3 (N1571T +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1445860	NM_020987.5(ANK3):c.12569A>G (p.Asn4190Ser)	ANK3 (N1571S +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1939641	NM_020987.5(ANK3):c.12564T>C (p.Asp4188=)	ANK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2074287	NM_020987.5(ANK3):c.12531T>C (p.Tyr4177=)	ANK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 388830	NM_020987.5(ANK3):c.12520A>G (p.Ile4174Val)	ANK3 (I1555V +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2081745	NM_020987.5(ANK3):c.12495T>C (p.Asp4165=)	ANK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1592392	NM_020987.5(ANK3):c.12468G>A (p.Ser4156=)	ANK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995255	NM_020987.5(ANK3):c.12467C>T (p.Ser4156Leu)	ANK3 (S1544L +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1955403	NM_020987.5(ANK3):c.12452-12T>C	ANK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1904507	NM_020987.5(ANK3):c.12452-14T>A	ANK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1603323	NM_020987.5(ANK3):c.12451+20_12451+24del	ANK3	Deletion (intron variant)	not provided	GLikely benign
Select item 726755	NM_020987.5(ANK3):c.12451+8G>A	ANK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 392067	NM_020987.5(ANK3):c.12436G>A (p.Gly4146Arg)	ANK3 (G1527R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1568290	NM_020987.5(ANK3):c.12435C>T (p.Asp4145=)	ANK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1953199	NM_020987.5(ANK3):c.12417A>G (p.Lys4139=)	ANK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1921633	NM_020987.5(ANK3):c.12415A>G (p.Lys4139Glu)	ANK3 (K1526E +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2132152	NM_020987.5(ANK3):c.12414A>T (p.Leu4138Phe)	ANK3 (L4138F +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2175008	NM_020987.5(ANK3):c.12406A>G (p.Met4136Val)	ANK3 (M4136V +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 872693	NM_020987.5(ANK3):c.12368G>A (p.Arg4123His)	ANK3 (R1504H +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1679836	NM_020987.5(ANK3):c.12356T>C (p.Ile4119Thr)	ANK3 (I1500T +4 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 66	GUncertain significance
Select item 451775	NM_020987.5(ANK3):c.12325G>T (p.Ala4109Ser)	ANK3 (A1490S +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3014950	NM_020987.5(ANK3):c.12320-5T>C	ANK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2077876	NM_020987.5(ANK3):c.12320-9T>G	ANK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2439085	NM_020987.5(ANK3):c.12294C>T (p.Ala4098=)	ANK3	Single nucleotide variant (synonymous variant)	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2903538	NM_020987.5(ANK3):c.12281T>C (p.Met4094Thr)	ANK3 (M1475T +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

<< First< Prev

Page of 13