ClinVar for Gene (Select 84219) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 109

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243622	NC_000016.9:g.(?_256302)_(1557737_?)del	ANTKMT, ARHGDIG +53 more	Deletion	not provided	GPathogenic
Select item 3243338	NC_000016.9:g.(?_396128)_(1204056_?)dup	ANTKMT, AXIN1 +34 more	Duplication	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 3243222	NC_000016.9:g.(?_339420)_(3767509_?)dup	ABCA3, AMDHD2 +142 more	Duplication	Epilepsy +2 more	GUncertain significance
Select item 3189903	NM_032259.4(WDR24):c.794A>G (p.His265Arg)	WDR24 (H265R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189902	NM_032259.4(WDR24):c.586C>A (p.Pro196Thr)	WDR24 (P196T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189901	NM_032259.4(WDR24):c.325C>T (p.Arg109Cys)	WDR24 (R109C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189900	NM_032259.4(WDR24):c.2308A>T (p.Met770Leu)	WDR24 (M770L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189899	NM_032259.4(WDR24):c.2213G>T (p.Arg738Leu)	WDR24 (R738L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189898	NM_032259.4(WDR24):c.2126A>T (p.Asn709Ile)	WDR24 (N709I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189897	NM_032259.4(WDR24):c.1817C>T (p.Ser606Phe)	WDR24 (S606F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189896	NM_032259.4(WDR24):c.1457A>T (p.Asn486Ile)	WDR24 (N486I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189895	NM_032259.4(WDR24):c.1102C>A (p.Pro368Thr)	WDR24 (P368T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062185	NM_005861.4(STUB1):c.669+2T>C	JMJD8, RHBDL1 +2 more	Single nucleotide variant (3 prime UTR variant +2 more)	Spinocerebellar ataxia 48	GUncertain significance
Select item 2685536	GRCh37/hg19 16p13.3(chr16:85881-1657611)x1	PRR35, ANTKMT +65 more	Copy number loss	not provided	GPathogenic
Select item 2672123	NM_032259.4(WDR24):c.1626_1627del (p.Val543fs)	WDR24 (V543fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2672122	NM_032259.4(WDR24):c.1333G>A (p.Val445Met)	WDR24 (V445M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2645851	NM_032259.4(WDR24):c.-434C>T	WDR24	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 2617855	NM_032259.4(WDR24):c.1919T>C (p.Met640Thr)	WDR24 (M640T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615078	NM_032259.4(WDR24):c.137G>A (p.Arg46His)	WDR24 (R46H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599230	NM_032259.4(WDR24):c.1984G>A (p.Glu662Lys)	WDR24 (E662K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589312	NM_032259.4(WDR24):c.1789G>A (p.Val597Met)	WDR24 (V597M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559341	NM_032259.4(WDR24):c.29C>T (p.Ala10Val)	WDR24 (A10V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550394	NM_032259.4(WDR24):c.1141C>T (p.Arg381Cys)	WDR24 (R381C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529722	NM_032259.4(WDR24):c.1543G>A (p.Asp515Asn)	WDR24 (D515N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519678	NM_032259.4(WDR24):c.309C>G (p.Asn103Lys)	WDR24 (N103K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518362	NM_032259.4(WDR24):c.1117C>T (p.Arg373Trp)	WDR24 (R373W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511390	NM_032259.4(WDR24):c.1732A>T (p.Ile578Phe)	WDR24 (I578F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488334	NM_032259.4(WDR24):c.1796G>A (p.Gly599Asp)	WDR24 (G599D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476645	NM_032259.4(WDR24):c.1763T>C (p.Leu588Pro)	WDR24 (L588P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459137	NM_032259.4(WDR24):c.2032A>T (p.Thr678Ser)	WDR24 (T678S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426664	NC_000016.9:g.(?_256302)_(1843653_?)del	RHOT2, TPSAB1 +64 more	Deletion	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 2426265	NC_000016.9:g.(?_256302)_(1918176_?)del	ANTKMT, ARHGDIG +67 more	Deletion	not provided	GUncertain significance
Select item 2425969	NC_000016.9:g.(?_256302)_(1657267_?)del	ANTKMT, ARHGDIG +55 more	Deletion	not provided	GPathogenic
Select item 2425037	NC_000016.9:g.(?_256302)_(4852572_?)dup	PRSS21, PRSS22 +170 more	Duplication	Idiopathic generalized epilepsy +3 more	GUncertain significance
Select item 2410914	NM_032259.4(WDR24):c.1550C>T (p.Ser517Leu)	WDR24 (S517L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394115	NM_032259.4(WDR24):c.479C>T (p.Ser160Leu)	WDR24 (S160L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388815	NM_032259.4(WDR24):c.1216G>A (p.Gly406Ser)	WDR24 (G406S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2364023	NM_032259.4(WDR24):c.794A>C (p.His265Pro)	WDR24 (H265P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362463	NM_032259.4(WDR24):c.1804G>A (p.Ala602Thr)	WDR24 (A602T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350337	NM_032259.4(WDR24):c.1259C>T (p.Ala420Val)	WDR24 (A420V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345018	NM_032259.4(WDR24):c.1427C>T (p.Ser476Phe)	WDR24 (S476F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341140	NM_032259.4(WDR24):c.1205C>T (p.Thr402Met)	WDR24 (T402M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2314187	NM_032259.4(WDR24):c.1009C>T (p.Arg337Cys)	WDR24 (R337C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309740	NM_032259.4(WDR24):c.1097G>A (p.Arg366His)	WDR24 (R366H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251470	NM_032259.4(WDR24):c.55C>T (p.Arg19Cys)	WDR24 (R19C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226238	NM_032259.4(WDR24):c.1399C>T (p.Leu467Phe)	WDR24 (L467F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808731	GRCh37/hg19 16p13.3(chr16:85881-1350186)x1	ANTKMT, ARHGDIG +53 more	Copy number loss	not provided	GPathogenic
Select item 1808202	GRCh37/hg19 16p13.3(chr16:726789-1066511)x1	ANTKMT, CCDC78 +15 more	Copy number loss	not provided	GUncertain significance
Select item 1710928	GRCh37/hg19 16p13.3(chr16:111043-6627459)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 1526481	GRCh37/hg19 16p13.3(chr16:85880-1468828)	ANTKMT, MRPL28 +58 more	Copy number loss	not specified	GPathogenic
Select item 1526480	GRCh37/hg19 16p13.3(chr16:85880-754083)	WDR90, WFIKKN1 +34 more	Copy number loss	not specified	GPathogenic
Select item 1180508	GRCh37/hg19 16p13.3(chr16:84485-5251013)x3	JPT2, KCTD5 +188 more	Copy number gain	not provided	GPathogenic
Select item 1175878	NM_005861.4(STUB1):c.346A>G (p.Asn116Asp)	JMJD8, RHBDL1 +2 more (N116D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1017417	NC_000016.9:g.(?_624055)_(2153916_?)dup	EME2, FAHD1 +71 more	Duplication	Epilepsy +2 more	GUncertain significance
Select item 980573	GRCh37/hg19 16p13.3(chr16:85880-5249457)x3	ABCA3, ADCY9 +188 more	Copy number gain	not provided	GPathogenic
Select item 833344	NC_000016.9:g.(?_624055)_(2550979_?)dup	ABCA3, ANTKMT +86 more	Duplication	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 832709	NC_000016.9:g.(?_624055)_(2148005_?)del	ANTKMT, BAIAP3 +71 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 815769	GRCh37/hg19 16p13.3(chr16:364182-1186480)x3	PRR25, LMF1 +33 more	Copy number gain	not provided	GUncertain significance
Select item 815767	GRCh37/hg19 16p13.3(chr16:106988-735154)x3	PRR35, AXIN1 +32 more	Copy number gain	not provided	GUncertain significance
Select item 815766	GRCh37/hg19 16p13.3(chr16:85880-1166355)x1	SNRNP25, C1QTNF8 +48 more	Copy number loss	not provided	GPathogenic
Select item 688348	GRCh37/hg19 16p13.3(chr16:85880-2053328)x1	ANTKMT, ARHGDIG +89 more	Copy number loss	not provided	GPathogenic
Select item 687431	GRCh37/hg19 16p13.3(chr16:85880-1468459)x1	ANTKMT, ARHGDIG +58 more	Copy number loss	not provided	GPathogenic
Select item 685952	GRCh37/hg19 16p13.3(chr16:85880-830613)x1	ANTKMT, ARHGDIG +40 more	Copy number loss	not provided	GPathogenic
Select item 655214	NC_000016.9:g.(?_624055)_(2115656_?)del	SYNGR3, UQCC4 +69 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 625723	GRCh37/hg19 16p13.3(chr16:109978-4316797)	ABCA3, ADCY9 +159 more	Copy number gain	Chromosome 16p13.3 duplication syndrome	GPathogenic
Select item 564254	GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3	ABAT, ABCA3 +206 more	Copy number gain	not provided	GPathogenic
Select item 564253	GRCh37/hg19 16p13.3(chr16:85880-3216551)x3	ABCA3, AMDHD2 +139 more	Copy number gain	not provided	GPathogenic
Select item 564252	GRCh37/hg19 16p13.3(chr16:85880-1875694)x1	PDIA2, POLR3K +75 more	Copy number loss	not provided	GPathogenic
Select item 564251	GRCh37/hg19 16p13.3(chr16:85880-1498731)x1	PGAP6, TSR3 +61 more	Copy number loss	not provided	GPathogenic
Select item 443477	GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3	ABAT, ABCA3 +198 more	Copy number gain	See cases	GPathogenic
Select item 443183	GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3	ABAT, ABCA3 +295 more	Copy number gain	See cases	GPathogenic
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	ZC3H7A, ZCCHC14 +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 442872	GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3	PRSS27, PRSS33 +263 more	Copy number gain	See cases	GPathogenic
Select item 442602	GRCh37/hg19 16p13.3(chr16:106859-735154)x3	ARHGDIG, AXIN1 +32 more	Copy number gain	See cases	GUncertain significance
Select item 441740	GRCh37/hg19 16p13.3(chr16:643377-3125125)x3	ABCA3, AMDHD2 +111 more	Copy number gain	See cases	GUncertain significance
Select item 395719	GRCh37/hg19 16p13.3-13.2(chr16:78801-9169448)	CLDN6, CLDN9 +196 more	Copy number gain	See cases	GPathogenic
Select item 395684	GRCh37/hg19 16p13.3(chr16:686673-772554)x1	ANTKMT, FBXL16 +8 more	Copy number loss	See cases	GBenign
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	DPEP2, DPEP3 +811 more	Copy number gain	See cases	GPathogenic
Select item 394840	GRCh37/hg19 16p13.3(chr16:97133-5122974)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 253809	GRCh37/hg19 16p13.3(chr16:239130-841725)x3	STUB1, CIAO3 +32 more	Copy number gain	See cases	GUncertain significance
Select item 253755	GRCh37/hg19 16p13.3(chr16:450686-1007236)x3	MSLN, PRR35 +27 more	Copy number gain	See cases	GUncertain significance
Select item 253622	GRCh37/hg19 16p13.3(chr16:72769-1511716)x1	CCDC154, CCDC78 +61 more	Copy number loss	See cases	GPathogenic
Select item 252979	GRCh37/hg19 16p13.3(chr16:88165-1715454)x1	ANTKMT, ARHGDIG +66 more	Copy number loss	See cases	GPathogenic
Select item 221509	GRCh37/hg19 16p13.3(chr16:706802-772110)x4	FBXL16, JMJD8 +7 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221390	GRCh37/hg19 16p13.3(chr16:97494-1257060)x3	ANTKMT, ARHGDIG +49 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 219021	GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3	ABAT, ABCA3 +330 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	LOC130058149, LOC130058150 +925 more	Copy number gain	See cases	GPathogenic
Select item 152879	GRCh38/hg38 16p13.3(chr16:59980-1221651)x1	ANTKMT, ARHGDIG +130 more	Copy number loss	See cases	GPathogenic
Select item 152593	GRCh38/hg38 16p13.3(chr16:650260-722554)x1	ANTKMT, FBXL16 +18 more	Copy number loss	See cases	GBenign
Select item 151645	GRCh38/hg38 16p13.3(chr16:534395-722554)x3	ANTKMT, CAPN15 +47 more	Copy number gain	See cases	GBenign
Select item 151633	GRCh38/hg38 16p13.3(chr16:636673-786508)x3	ANTKMT, CCDC78 +40 more	Copy number gain	See cases	GBenign
Select item 150513	GRCh38/hg38 16p13.3(chr16:412341-925326)x3	ANTKMT, CAPN15 +76 more	Copy number gain	See cases	GUncertain significance
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	LOC130058535, LOC130058536 +916 more	Copy number gain	See cases	GPathogenic
Select item 148917	GRCh38/hg38 16p13.3(chr16:46766-882211)x1	NHLRC4, NME4 +119 more	Copy number loss	See cases	GPathogenic
Select item 148760	GRCh38/hg38 16p13.3(chr16:46722-1867327)x1	ANTKMT, ARHGDIG +224 more	Copy number loss	See cases	GPathogenic
Select item 147509	GRCh38/hg38 16p13.3(chr16:46766-4247185)x3	LOC125146383, LOC125146384 +556 more	Copy number gain	See cases	GPathogenic
Select item 145938	GRCh38/hg38 16p13.3(chr16:551385-722554)x3	ANTKMT, CAPN15 +45 more	Copy number gain	See cases	GLikely benign
Select item 145576	GRCh38/hg38 16p13.3(chr16:46766-1544014)x1	ANTKMT, ARHGDIG +179 more	Copy number loss	See cases	GPathogenic
Select item 145245	GRCh38/hg38 16p13.3(chr16:636673-722554)x1	ANTKMT, FBXL16 +26 more	Copy number loss	See cases	GBenign

<< First< Prev

Page of 2