ClinVar for Gene (Select 54467) - ClinVar

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Links from Gene

Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3295839	NM_019004.2(ANKIB1):c.391G>C (p.Gly131Arg)	ANKIB1 (G131R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295816	NM_019004.2(ANKIB1):c.2943C>A (p.Asn981Lys)	ANKIB1 (N981K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295810	NM_019004.2(ANKIB1):c.404G>A (p.Arg135Lys)	ANKIB1 (R135K)	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 3121150	NM_019004.2(ANKIB1):c.652G>A (p.Ala218Thr)	ANKIB1 (A218T)	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 3121077	NM_019004.2(ANKIB1):c.2296T>C (p.Phe766Leu)	ANKIB1 (F766L)	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 3121063	NM_019004.2(ANKIB1):c.1657A>G (p.Lys553Glu)	ANKIB1 (K553E)	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 2618948	NM_019004.2(ANKIB1):c.2387G>T (p.Ser796Ile)	ANKIB1 (S796I)	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 2603482	NM_019004.2(ANKIB1):c.2897A>G (p.Asn966Ser)	ANKIB1 (N966S)	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 2593316	NM_019004.2(ANKIB1):c.3022T>A (p.Ser1008Thr)	ANKIB1 (S1008T)	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 2554030	NM_019004.2(ANKIB1):c.670C>A (p.Pro224Thr)	ANKIB1 (P224T)	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 2532821	NM_019004.2(ANKIB1):c.3200A>G (p.Asp1067Gly)	ANKIB1 (D1067G)	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 2523157	NM_019004.2(ANKIB1):c.3029G>T (p.Gly1010Val)	ANKIB1 (G1010V)	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 2491304	NM_019004.2(ANKIB1):c.2422C>T (p.Arg808Cys)	ANKIB1 (R808C)	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 2461101	NM_019004.2(ANKIB1):c.200G>A (p.Gly67Asp)	ANKIB1 (G67D)	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 2400444	NM_019004.2(ANKIB1):c.2413A>G (p.Ser805Gly)	ANKIB1 (S805G)	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 2375476	NM_019004.2(ANKIB1):c.3086T>C (p.Val1029Ala)	ANKIB1 (V1029A)	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 2370704	NM_019004.2(ANKIB1):c.2860A>G (p.Ser954Gly)	ANKIB1 (S954G)	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 2362117	NM_019004.2(ANKIB1):c.770C>G (p.Ala257Gly)	ANKIB1 (A257G)	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 2333535	NM_019004.2(ANKIB1):c.2693C>G (p.Ser898Cys)	ANKIB1 (S898C)	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 2327531	NM_019004.2(ANKIB1):c.2911G>A (p.Gly971Ser)	ANKIB1 (G971S)	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 2323235	NM_019004.2(ANKIB1):c.864G>A (p.Met288Ile)	ANKIB1 (M288I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2290307	NM_019004.2(ANKIB1):c.3185C>T (p.Ala1062Val)	ANKIB1 (A1062V)	Single nucleotide variant (missense variant)	not specified	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 2274184	NM_019004.2(ANKIB1):c.2642A>G (p.Asn881Ser)	ANKIB1 (N881S)	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 2257410	NM_019004.2(ANKIB1):c.2776G>A (p.Gly926Arg)	ANKIB1 (G926R)	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 2239212	NM_019004.2(ANKIB1):c.3085G>A (p.Val1029Ile)	ANKIB1 (V1029I)	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 2226517	NM_019004.2(ANKIB1):c.1321T>C (p.Ser441Pro)	ANKIB1 (S441P)	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 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 911511	NM_194456.1(KRIT1):c.-770G>T	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_194456.1(KRIT1):c.-698G>A	ANKIB1, KRIT1 +1 more	Single nucleotide variant (5 prime UTR variant)	Angiokeratoma corporis diffusum with arteriovenous fistulas +1 more	GUncertain significance
Select item 910297	NM_194456.1(KRIT1):c.-691G>C	ANKIB1, KRIT1 +1 more	Single nucleotide variant (5 prime UTR variant)	Angiokeratoma corporis diffusum with arteriovenous fistulas +1 more	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 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 527121	NC_000007.13:g.(?_91570394)_(92085896_?)dup	AKAP9, ANKIB1 +19 more	Duplication	Long QT syndrome	GUncertain significance
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 360909	NM_194456.1(KRIT1):c.-780_-775dupCGGCTC	ANKIB1, KRIT1 +1 more	Microsatellite (5 prime UTR variant)	Angiokeratoma corporis diffusum with arteriovenous fistulas +2 more	GUncertain significance
Select item 360908	NM_194456.1(KRIT1):c.-741C>T	ANKIB1, KRIT1 +1 more	Single nucleotide variant (5 prime UTR variant)	Angiokeratoma corporis diffusum with arteriovenous fistulas +2 more	GBenign
Select item 360907	NM_194456.1(KRIT1):c.-701C>T	ANKIB1, KRIT1 +1 more	Single nucleotide variant (5 prime UTR variant)	Angiokeratoma corporis diffusum with arteriovenous fistulas +2 more	GBenign/Likely benign
Select item 360906	NM_019004.2(ANKIB1):c.-605T>C	ANKIB1, KRIT1 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 360905	NM_194456.1(KRIT1):c.-680G>A	ANKIB1, KRIT1 +1 more	Single nucleotide variant (5 prime UTR variant)	Angiokeratoma corporis diffusum with arteriovenous fistulas +3 more	GBenign
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic
Select item 155204	GRCh38/hg38 7q21.11-21.3(chr7:84002634-95228883)x1	LOC129998788, LOC129998789 +227 more	Copy number loss	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 73