ANKRD9[gene] - ClinVar

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Items: 92

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC130056651, LOC130056652 +1423 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1204 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056392, LOC130056393 +1073 more	Copy number gain	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	IGHD5-18, IGHD5-24 +881 more	Copy number gain	See cases	GPathogenic
Select item 146638	GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3	LOC130056359, LOC130056360 +663 more	Copy number gain	See cases	GPathogenic
Select item 146793	GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)x1	LOC130056380, LOC130056381 +755 more	Copy number loss	See cases	GPathogenic
Select item 146074	GRCh38/hg38 14q32.2-32.33(chr14:97638520-106855263)x3	LOC130056535, LOC130056536 +671 more	Copy number gain	See cases	GPathogenic
Select item 57085	GRCh38/hg38 14q32.2-32.33(chr14:97938637-106855263)x1	LOC130056672, LOC130056673 +667 more	Copy number loss	See cases	GPathogenic
Select item 146615	GRCh38/hg38 14q32.2-32.33(chr14:99448012-106850609)x3	LOC130056604, LOC130056605 +654 more	Copy number gain	See cases	GPathogenic
Select item 144349	GRCh38/hg38 14q32.2-32.33(chr14:99831655-106855263)x1	ADSS1, AHNAK2 +632 more	Copy number loss	See cases	GPathogenic
Select item 146084	GRCh38/hg38 14q32.2-32.33(chr14:100309382-105987610)x3	MIR493, MIR494 +530 more	Copy number gain	See cases	GPathogenic
Select item 57267	GRCh38/hg38 14q32.2-32.33(chr14:100309382-106855263)x1	ADSS1, AHNAK2 +582 more	Copy number loss	See cases	GPathogenic
Select item 155595	GRCh38/hg38 14q32.2-32.33(chr14:100582059-106877229)x1	LOC130056480, LOC130056481 +571 more	Copy number loss	See cases	GPathogenic
Select item 57413	GRCh38/hg38 14q32.2-32.33(chr14:100808300-106855263)x1	IGHV1-46, IGHV1-58 +561 more	Copy number loss	See cases	GPathogenic
Select item 154386	GRCh38/hg38 14q32.31-32.33(chr14:101665602-106855263)x1	MIR6765, MIR8071-1 +441 more	Copy number loss	See cases	GPathogenic
Select item 150835	GRCh38/hg38 14q32.31-32.33(chr14:101925670-106876323)x1	ADSS1, AHNAK2 +416 more	Copy number loss	See cases	GPathogenic
Select item 57839	GRCh38/hg38 14q32.31-32.33(chr14:102210395-104449321)x1	LOC105378183, LOC112163684 +164 more	Copy number loss	See cases	GPathogenic
Select item 153602	GRCh38/hg38 14q32.31-32.33(chr14:102239422-106877229)x1	ADSS1, AHNAK2 +397 more	Copy number loss	See cases	GPathogenic
Select item 2579167	GRCh38/hg38 14q32.31-32.33(chr14:102263440-106874929)x1	LOC130056644, LOC130056645 +397 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 417452	NC_000014.8:g.(?_102898133)_(102968818_?)dup	TECPR2, ANKRD9 +1 more	Duplication	Hereditary spastic paraplegia 49	GUncertain significance
Select item 3126954	NM_152326.4(ANKRD9):c.937C>G (p.Leu313Val)	ANKRD9 (L313V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609733	NM_152326.4(ANKRD9):c.865G>A (p.Ala289Thr)	ANKRD9 (A289T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559872	NM_152326.4(ANKRD9):c.848T>C (p.Met283Thr)	ANKRD9 (M283T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126953	NM_152326.4(ANKRD9):c.770G>A (p.Arg257His)	ANKRD9 (R257H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376268	NM_152326.4(ANKRD9):c.679C>T (p.Arg227Cys)	ANKRD9 (R227C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522372	NM_152326.4(ANKRD9):c.677A>G (p.Gln226Arg)	ANKRD9 (Q226R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559058	NM_152326.4(ANKRD9):c.664G>T (p.Gly222Trp)	ANKRD9 (G222W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556483	NM_152326.4(ANKRD9):c.640G>A (p.Ala214Thr)	ANKRD9 (A214T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367053	NM_152326.4(ANKRD9):c.634T>C (p.Ser212Pro)	ANKRD9 (S212P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298140	NM_152326.4(ANKRD9):c.586C>T (p.Leu196Phe)	ANKRD9 (L196F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217337	NM_152326.4(ANKRD9):c.581C>T (p.Thr194Met)	ANKRD9 (T194M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516719	NM_152326.4(ANKRD9):c.508G>A (p.Ala170Thr)	ANKRD9 (A170T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235095	NM_152326.4(ANKRD9):c.488T>C (p.Leu163Pro)	ANKRD9 (L163P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286965	NM_152326.4(ANKRD9):c.464G>T (p.Arg155Leu)	ANKRD9 (R155L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485462	NM_152326.4(ANKRD9):c.404C>A (p.Thr135Asn)	ANKRD9 (T135N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380132	NM_152326.4(ANKRD9):c.391C>T (p.Arg131Cys)	ANKRD9 (R131C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126951	NM_152326.4(ANKRD9):c.389G>T (p.Arg130Leu)	ANKRD9 (R130L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519889	NM_152326.4(ANKRD9):c.388C>G (p.Arg130Gly)	ANKRD9 (R130G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287955	NM_152326.4(ANKRD9):c.386T>G (p.Leu129Arg)	ANKRD9 (L129R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521766	NM_152326.4(ANKRD9):c.373C>T (p.Arg125Cys)	ANKRD9 (R125C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126950	NM_152326.4(ANKRD9):c.332C>T (p.Ala111Val)	ANKRD9 (A111V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538951	NM_152326.4(ANKRD9):c.316G>A (p.Gly106Ser)	ANKRD9 (G106S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212549	NM_152326.4(ANKRD9):c.313G>C (p.Ala105Pro)	ANKRD9 (A105P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205726	NM_152326.4(ANKRD9):c.280A>G (p.Thr94Ala)	ANKRD9 (T94A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511976	NM_152326.4(ANKRD9):c.191G>A (p.Arg64His)	ANKRD9 (R64H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622704	NM_152326.4(ANKRD9):c.130C>A (p.Leu44Met)	ANKRD9 (L44M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335187	NM_152326.4(ANKRD9):c.105C>G (p.Phe35Leu)	ANKRD9 (F35L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540392	NM_152326.4(ANKRD9):c.91C>T (p.Arg31Cys)	ANKRD9 (R31C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298132	NM_152326.4(ANKRD9):c.67C>T (p.Arg23Cys)	ANKRD9 (R23C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462984	NM_152326.4(ANKRD9):c.67C>A (p.Arg23Ser)	ANKRD9 (R23S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340471	NM_152326.4(ANKRD9):c.49G>A (p.Glu17Lys)	ANKRD9 (E17K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126952	NM_152326.4(ANKRD9):c.38A>G (p.Asp13Gly)	ANKRD9 (D13G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274247	NM_152326.4(ANKRD9):c.12C>G (p.Asp4Glu)	ANKRD9 (D4E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244097	NC_000014.8:g.(?_102843059)_(103397017_?)dup	AMN, ANKRD9 +3 more	Duplication	not provided	GUncertain significance
Select item 3244027	NC_000014.8:g.(?_102873655)_(105861009_?)del	ADSS1, AHNAK2 +40 more	Deletion	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 3244018	NC_000014.8:g.(?_102431029)_(103397017_?)dup	AMN, ANKRD9 +9 more	Duplication	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 3242321	GRCh37/hg19 14q32.31-32.33(chr14:101522804-107289470)x1	ADSS1, AHNAK2 +70 more	Copy number loss	not provided	GPathogenic
Select item 3063327	GRCh37/hg19 14q32.31-32.33(chr14:102098959-107285437)x1	CLBA1, COA8 +65 more	Copy number loss	not specified	GPathogenic
Select item 3063318	GRCh37/hg19 14q32.2-32.32(chr14:97705251-103682578)x3	AMN, ANKRD9 +54 more	Copy number gain	not specified	GUncertain significance
Select item 3024584	GRCh37/hg19 14q32.31(chr14:102749815-103192843)x3	ANKRD9, CINP +4 more	Copy number gain	not provided	GUncertain significance
Select item 2685500	GRCh37/hg19 14q32.2-32.33(chr14:101024609-107285437)x1	IGHV3-23, INF2 +91 more	Copy number loss	not provided	GPathogenic
Select item 2684743	GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3	IFI27L1, IGHA2 +182 more	Copy number gain	not provided	GPathogenic
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	CCNK, MIR376A1 +353 more	Copy number gain	not provided	GPathogenic
Select item 2424156	NC_000014.8:g.(?_102228231)_(105861009_?)dup	ADSS1, AHNAK2 +47 more	Duplication	Charcot-Marie-Tooth disease axonal type 2O +1 more	GUncertain significance
Select item 2424155	NC_000014.8:g.(?_102442029)_(105861009_?)del	ADSS1, AHNAK2 +46 more	Deletion	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 1807775	GRCh37/hg19 14q31.2-32.33(chr14:84537502-107285437)x3	ADSS1, AHNAK2 +185 more	Copy number gain	not provided	GPathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
Select item 1526437	GRCh37/hg19 14q32.31-32.33(chr14:101732158-107285437)	PACS2, PLD4 +67 more	Copy number loss	not specified	GPathogenic
Select item 1410807	NC_000014.8:g.(?_102229222)_(105861009_?)dup	ANKRD9, ASPG +47 more	Duplication	not provided	GUncertain significance
Select item 1341203	GRCh37/hg19 14q32.31-32.33(chr14:101593860-106160500)x1	ADSS1, AHNAK2 +60 more	Copy number loss	not provided	GPathogenic
Select item 1339794	GRCh37/hg19 14q32.31-32.32(chr14:102871245-103645036)x4	AMN, ANKRD9 +6 more	Copy number gain	not provided	Gnot provided
Select item 980625	GRCh37/hg19 14q32.31-32.33(chr14:102615953-107285437)x1	BRF1, AHNAK2 +62 more	Copy number loss	not provided	GPathogenic
Select item 929832	GRCh37/hg19 14q32.2-32.33(chr14:96829290-107287663)x1	KIF26A, KLC1 +112 more	Copy number loss	See cases	GPathogenic
Select item 815678	GRCh37/hg19 14q32.31-32.32(chr14:102824097-103427144)x3	ANKRD9, CDC42BPB +5 more	Copy number gain	not provided	GUncertain significance
Select item 815677	GRCh37/hg19 14q32.31(chr14:102817076-103082442)x3	RCOR1, TECPR2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 688581	GRCh37/hg19 14q32.2-32.33(chr14:99794230-107285437)x3	ADSS1, AHNAK2 +104 more	Copy number gain	not provided	GPathogenic
Select item 687996	GRCh37/hg19 14q32.12-32.33(chr14:91969028-107285437)x3	ATXN3, BAG5 +164 more	Copy number gain	not provided	GPathogenic
Select item 687726	GRCh37/hg19 14q32.31-32.33(chr14:101627916-107147698)x1	INF2, JAG2 +67 more	Copy number loss	not provided	GPathogenic
Select item 687315	GRCh37/hg19 14q32.31-32.32(chr14:102709744-103453834)x4	AMN, ANKRD9 +7 more	Copy number gain	not provided	GUncertain significance
Select item 686480	GRCh37/hg19 14q32.31-32.33(chr14:102931119-107285437)x1	ADSS1, AHNAK2 +58 more	Copy number loss	not provided	GPathogenic
Select item 685077	GRCh37/hg19 14q32.31(chr14:102938725-103052013)x3	TECPR2, ANKRD9	Copy number gain	not provided	GUncertain significance
Select item 625744	GRCh37/hg19 14q32.2-32.33(chr14:100575917-107281934)	BAG5, MIR380 +98 more	Copy number gain	not provided	GPathogenic
Select item 564134	GRCh37/hg19 14q32.31-32.33(chr14:102191861-106019451)x3	ADSS1, AHNAK2 +53 more	Copy number gain	not provided	GPathogenic
Select item 564108	GRCh37/hg19 14q32.31-32.32(chr14:102938781-103225200)x3	TECPR2, ANKRD9 +1 more	Copy number gain	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 443644	GRCh37/hg19 14q32.2-32.33(chr14:100661319-107285437)x1	ADSS1, AHNAK2 +96 more	Copy number loss	See cases	GPathogenic
Select item 442718	GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3	ABCD4, ACOT1 +261 more	Copy number gain	See cases	GPathogenic
Select item 442427	GRCh37/hg19 14q32.31-32.32(chr14:102801442-103358115)x3	ANKRD9, CINP +4 more	Copy number gain	See cases	GUncertain significance
Select item 441703	GRCh37/hg19 14q32.31-32.33(chr14:102670706-107285437)x1	ADSS1, AHNAK2 +62 more	Copy number loss	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic

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Items: 92