ANKIB1[gene] - ClinVar

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

Search results

Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 155204	GRCh38/hg38 7q21.11-21.3(chr7:84002634-95228883)x1	ABCB1, ABCB4 +227 more	Copy number loss	See cases	GPathogenic
Select item 527121	NC_000007.13:g.(?_91570394)_(92085896_?)dup	ANKIB1, CYP51A1 +19 more	Duplication	Long QT syndrome	GUncertain significance
Select item 360905	NM_019004.2(ANKIB1):c.-614C>T	ANKIB1, KRIT1 +1 more	Single nucleotide variant (5 prime UTR variant)	Cerebral cavernous malformation +2 more	GBenign
Select item 360906	NM_019004.2(ANKIB1):c.-605T>C	ANKIB1, KRIT1 +1 more	Single nucleotide variant (5 prime UTR variant)	Cerebral cavernous malformation +2 more	GBenign/Likely benign
Select item 910297	NM_019004.2(ANKIB1):c.-603C>G	ANKIB1, KRIT1 +1 more	Single nucleotide variant (5 prime UTR variant)	Angiokeratoma corporis diffusum with arteriovenous fistulas +1 more	GUncertain significance
Select item 910298	NM_019004.2(ANKIB1):c.-596C>T	ANKIB1, KRIT1 +1 more	Single nucleotide variant (5 prime UTR variant)	Angiokeratoma corporis diffusum with arteriovenous fistulas +1 more	GUncertain significance
Select item 360907	NM_019004.2(ANKIB1):c.-593G>A	ANKIB1, KRIT1 +1 more	Single nucleotide variant (5 prime UTR variant)	Cerebral cavernous malformation +2 more	GBenign/Likely benign
Select item 360908	NM_019004.2(ANKIB1):c.-553G>A	ANKIB1, KRIT1 +1 more	Single nucleotide variant (5 prime UTR variant)	Cerebral cavernous malformation +1 more	GBenign
Select item 911511	NM_019004.2(ANKIB1):c.-524C>A	ANKIB1, LOC113748416 +1 more	Single nucleotide variant (5 prime UTR variant)	Angiokeratoma corporis diffusum with arteriovenous fistulas +1 more	GUncertain significance
Select item 360909	NM_019004.2(ANKIB1):c.-516CCGGAG[4]	ANKIB1, KRIT1 +1 more	Microsatellite (5 prime UTR variant)	Cerebral cavernous malformation +1 more	GUncertain significance
Select item 2276989	NM_019004.2(ANKIB1):c.183A>G (p.Ile61Met)	ANKIB1 (I61M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461101	NM_019004.2(ANKIB1):c.200G>A (p.Gly67Asp)	ANKIB1 (G67D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461593	NM_019004.2(ANKIB1):c.319A>G (p.Thr107Ala)	ANKIB1 (T107A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2295800	NM_019004.2(ANKIB1):c.388C>G (p.Gln130Glu)	ANKIB1 (Q130E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455210	NM_019004.2(ANKIB1):c.390G>T (p.Gln130His)	ANKIB1 (Q130H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121150	NM_019004.2(ANKIB1):c.652G>A (p.Ala218Thr)	ANKIB1 (A218T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367855	NM_019004.2(ANKIB1):c.665G>A (p.Arg222Gln)	ANKIB1 (R222Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554030	NM_019004.2(ANKIB1):c.670C>A (p.Pro224Thr)	ANKIB1 (P224T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362117	NM_019004.2(ANKIB1):c.770C>G (p.Ala257Gly)	ANKIB1 (A257G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618165	NM_019004.2(ANKIB1):c.824C>G (p.Ser275Cys)	ANKIB1 (S275C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323235	NM_019004.2(ANKIB1):c.864G>A (p.Met288Ile)	ANKIB1 (M288I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599133	NM_019004.2(ANKIB1):c.931A>G (p.Thr311Ala)	ANKIB1 (T311A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121173	NM_019004.2(ANKIB1):c.992G>T (p.Ser331Ile)	ANKIB1 (S331I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371557	NM_019004.2(ANKIB1):c.1315A>G (p.Asn439Asp)	ANKIB1 (N439D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121058	NM_019004.2(ANKIB1):c.1319C>T (p.Thr440Ile)	ANKIB1 (T440I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226517	NM_019004.2(ANKIB1):c.1321T>C (p.Ser441Pro)	ANKIB1 (S441P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121063	NM_019004.2(ANKIB1):c.1657A>G (p.Lys553Glu)	ANKIB1 (K553E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121065	NM_019004.2(ANKIB1):c.1772G>A (p.Arg591Gln)	ANKIB1 (R591Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258268	NM_019004.2(ANKIB1):c.2101C>A (p.Pro701Thr)	ANKIB1 (P701T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121077	NM_019004.2(ANKIB1):c.2296T>C (p.Phe766Leu)	ANKIB1 (F766L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220727	NM_019004.2(ANKIB1):c.2327G>A (p.Arg776His)	ANKIB1 (R776H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235347	NM_019004.2(ANKIB1):c.2345G>A (p.Ser782Asn)	ANKIB1 (S782N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591496	NM_019004.2(ANKIB1):c.2362C>G (p.Pro788Ala)	ANKIB1 (P788A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255809	NM_019004.2(ANKIB1):c.2372A>G (p.Asp791Gly)	ANKIB1 (D791G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618948	NM_019004.2(ANKIB1):c.2387G>T (p.Ser796Ile)	ANKIB1 (S796I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400444	NM_019004.2(ANKIB1):c.2413A>G (p.Ser805Gly)	ANKIB1 (S805G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491304	NM_019004.2(ANKIB1):c.2422C>T (p.Arg808Cys)	ANKIB1 (R808C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523536	NM_019004.2(ANKIB1):c.2485C>T (p.Arg829Cys)	ANKIB1 (R829C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343503	NM_019004.2(ANKIB1):c.2486G>A (p.Arg829His)	ANKIB1 (R829H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274184	NM_019004.2(ANKIB1):c.2642A>G (p.Asn881Ser)	ANKIB1 (N881S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333535	NM_019004.2(ANKIB1):c.2693C>G (p.Ser898Cys)	ANKIB1 (S898C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323329	NM_019004.2(ANKIB1):c.2698C>T (p.Pro900Ser)	ANKIB1 (P900S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257410	NM_019004.2(ANKIB1):c.2776G>A (p.Gly926Arg)	ANKIB1 (G926R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515757	NM_019004.2(ANKIB1):c.2803G>T (p.Asp935Tyr)	ANKIB1 (D935Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370704	NM_019004.2(ANKIB1):c.2860A>G (p.Ser954Gly)	ANKIB1 (S954G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603482	NM_019004.2(ANKIB1):c.2897A>G (p.Asn966Ser)	ANKIB1 (N966S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327531	NM_019004.2(ANKIB1):c.2911G>A (p.Gly971Ser)	ANKIB1 (G971S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121125	NM_019004.2(ANKIB1):c.2968C>G (p.Pro990Ala)	ANKIB1 (P990A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382242	NM_019004.2(ANKIB1):c.3008G>T (p.Cys1003Phe)	ANKIB1 (C1003F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593316	NM_019004.2(ANKIB1):c.3022T>A (p.Ser1008Thr)	ANKIB1 (S1008T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523157	NM_019004.2(ANKIB1):c.3029G>T (p.Gly1010Val)	ANKIB1 (G1010V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329987	NM_019004.2(ANKIB1):c.3082A>G (p.Ser1028Gly)	ANKIB1 (S1028G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239212	NM_019004.2(ANKIB1):c.3085G>A (p.Val1029Ile)	ANKIB1 (V1029I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375476	NM_019004.2(ANKIB1):c.3086T>C (p.Val1029Ala)	ANKIB1 (V1029A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553880	NM_019004.2(ANKIB1):c.3095G>A (p.Gly1032Asp)	ANKIB1 (G1032D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2290307	NM_019004.2(ANKIB1):c.3185C>T (p.Ala1062Val)	ANKIB1 (A1062V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532821	NM_019004.2(ANKIB1):c.3200A>G (p.Asp1067Gly)	ANKIB1 (D1067G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713224	NM_019004.2(ANKIB1):c.3229C>G (p.Gln1077Glu)	ANKIB1 (Q1077E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527369	GRCh37/hg19 7q21.11-21.3(chr7:77821356-93340137)	ABCB1, ABCB4 +50 more	Copy number gain	not specified	GPathogenic
Select item 1299385	NC_000007.13:g.(91715729_91718698)_(91864237_91972337)del	AKAP9, ANKIB1 +4 more	Deletion	Cerebral cavernous malformation	GPathogenic
Select item 1047880	GRCh37/hg19 7q21.12-22.1(chr7:87477185-100333327)	ATP5MF-PTCD1, AZGP1 +127 more	Copy number gain	Isolated Pierre-Robin syndrome +1 more	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 560111	Single allele	CACNA2D1, ERVW-1 +91 more	Deletion	not provided	GUncertain significance
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AASS, ABCA13 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	KLHL7, KLHL7-DT +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 70