ANKAR[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	ABI2, AGPS +697 more	Copy number loss	See cases	GPathogenic
Select item 155417	GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1	AGPS, ANKAR +377 more	Copy number loss	See cases	GPathogenic
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 153288	GRCh38/hg38 2q31.2-32.3(chr2:177827730-195125329)x1	LOC129935258, LOC129935259 +312 more	Copy number loss	See cases	GPathogenic
Select item 58771	GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1	ANKAR, ANKRD44 +430 more	Copy number loss	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	LOC129935413, LOC129935414 +1097 more	Copy number gain	See cases	GPathogenic
Select item 149200	GRCh38/hg38 2q31.3-32.3(chr2:181758701-192015392)x1	ANKAR, ASDURF +191 more	Copy number loss	See cases	GPathogenic
Select item 146616	GRCh38/hg38 2q32.1-33.1(chr2:186027472-201059372)x1	LOC129935268, LOC129935269 +329 more	Copy number loss	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 146486	GRCh38/hg38 2q32.2(chr2:188947503-189689613)x1	ANKAR, ASDURF +19 more	Copy number loss	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	ABCA12, ABCB6 +1687 more	Copy number gain	See cases	GPathogenic
Select item 145813	GRCh38/hg38 2q32.2(chr2:189442378-189689554)x3	ANKAR, ASDURF +8 more	Copy number gain	See cases	GLikely benign
Select item 2548686	NM_001378068.1(ANKAR):c.29C>G (p.Pro10Arg)	ANKAR (P10R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555649	NM_001378068.1(ANKAR):c.41A>G (p.Gln14Arg)	ANKAR (Q14R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 740450	NM_001378068.1(ANKAR):c.105dup (p.Glu36Ter)	ANKAR (E36*)	Duplication (nonsense)	not provided	GLikely benign
Select item 2373056	NM_001378068.1(ANKAR):c.185G>A (p.Arg62His)	ANKAR (R62H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482818	NM_001378068.1(ANKAR):c.248C>T (p.Ala83Val)	ANKAR (A83V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238516	NM_001378068.1(ANKAR):c.265G>A (p.Val89Met)	ANKAR (V89M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 775795	NM_001378068.1(ANKAR):c.276T>G (p.Thr92=)	ANKAR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2208628	NM_001378068.1(ANKAR):c.281T>C (p.Leu94Pro)	ANKAR (L94P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 791881	NM_001378068.1(ANKAR):c.281T>G (p.Leu94Arg)	ANKAR (L94R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2350404	NM_001378068.1(ANKAR):c.430G>A (p.Gly144Arg)	ANKAR (G144R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216628	NM_001378068.1(ANKAR):c.560C>T (p.Pro187Leu)	ANKAR (P187L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 716762	NM_001378068.1(ANKAR):c.616A>G (p.Thr206Ala)	ANKAR (T206A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2226307	NM_001378068.1(ANKAR):c.747C>G (p.Phe249Leu)	ANKAR (F249L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301484	NM_001378068.1(ANKAR):c.832G>T (p.Asp278Tyr)	ANKAR (D278Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489310	NM_001378068.1(ANKAR):c.992A>G (p.Lys331Arg)	ANKAR (K331R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478763	NM_001378068.1(ANKAR):c.1180G>A (p.Glu394Lys)	ANKAR (E394K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2651760	NM_001378068.1(ANKAR):c.1298A>G (p.His433Arg)	ANKAR (H433R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 775796	NM_001378068.1(ANKAR):c.1307+5G>A	ANKAR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 785983	NM_001378068.1(ANKAR):c.1313A>C (p.Tyr438Ser)	ANKAR (Y438S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 742027	NM_001378068.1(ANKAR):c.1332A>G (p.Leu444=)	ANKAR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2570043	NM_001378068.1(ANKAR):c.1367G>C (p.Trp456Ser)	ANKAR (W456S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613209	NM_001378068.1(ANKAR):c.1501G>A (p.Gly501Ser)	ANKAR (G501S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355772	NM_001378068.1(ANKAR):c.1555C>T (p.Arg519Cys)	ANKAR (R519C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2619484	NM_001378068.1(ANKAR):c.1603A>C (p.Thr535Pro)	ANKAR (T535P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 727247	NM_001378068.1(ANKAR):c.1616A>T (p.His539Leu)	ANKAR (H539L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2558871	NM_001378068.1(ANKAR):c.1675G>A (p.Val559Ile)	ANKAR (V559I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2600607	NM_001378068.1(ANKAR):c.1688G>A (p.Arg563His)	ANKAR (R563H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402942	NM_001378068.1(ANKAR):c.1723C>T (p.His575Tyr)	ANKAR (H575Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323472	NM_001378068.1(ANKAR):c.1738G>A (p.Ala580Thr)	ANKAR (A580T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605116	NM_001378068.1(ANKAR):c.1808G>T (p.Gly603Val)	ANKAR (G603V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237086	NM_001378068.1(ANKAR):c.1819A>G (p.Ile607Val)	ANKAR (I607V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2651761	NM_001378068.1(ANKAR):c.1830C>T (p.Ala610=)	ANKAR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2230439	NM_001378068.1(ANKAR):c.1846G>A (p.Val616Ile)	ANKAR (V616I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2518943	NM_001378068.1(ANKAR):c.1978T>C (p.Ser660Pro)	ANKAR (S660P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234649	NM_001378068.1(ANKAR):c.2014G>C (p.Gly672Arg)	ANKAR (G672R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 783346	NM_001378068.1(ANKAR):c.2044A>G (p.Thr682Ala)	ANKAR (T682A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2373772	NM_001378068.1(ANKAR):c.2120A>C (p.Glu707Ala)	ANKAR (E707A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2395028	NM_001378068.1(ANKAR):c.2161G>A (p.Val721Ile)	ANKAR (V721I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345369	NM_001378068.1(ANKAR):c.2164A>G (p.Met722Val)	ANKAR (M722V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 714134	NM_001378068.1(ANKAR):c.2327T>C (p.Val776Ala)	ANKAR (V776A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 785984	NM_001378068.1(ANKAR):c.2337G>A (p.Leu779=)	ANKAR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2321739	NM_001378068.1(ANKAR):c.2344G>A (p.Ala782Thr)	ANKAR (A782T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2622307	NM_001378068.1(ANKAR):c.2423A>G (p.Tyr808Cys)	ANKAR (Y808C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609983	NM_001378068.1(ANKAR):c.2570A>C (p.Asn857Thr)	ANKAR (N857T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2591259	NM_001378068.1(ANKAR):c.2593A>C (p.Lys865Gln)	ANKAR (K865Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394145	NM_001378068.1(ANKAR):c.2608C>A (p.Leu870Ile)	ANKAR (L870I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301647	NM_001378068.1(ANKAR):c.2615G>T (p.Arg872Ile)	ANKAR (R872I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543314	NM_001378068.1(ANKAR):c.2681G>C (p.Arg894Pro)	ANKAR (R894P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248635	NM_001378068.1(ANKAR):c.2726T>G (p.Ile909Ser)	ANKAR (I909S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465322	NM_001378068.1(ANKAR):c.2753G>A (p.Gly918Glu)	ANKAR (G918E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 781687	NM_001378068.1(ANKAR):c.2814C>T (p.Asn938=)	ANKAR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2551924	NM_001378068.1(ANKAR):c.2965G>C (p.Glu989Gln)	ANKAR (E989Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314544	NM_001378068.1(ANKAR):c.3137C>T (p.Thr1046Met)	ANKAR (T1046M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530032	NM_001378068.1(ANKAR):c.3191T>C (p.Ile1064Thr)	ANKAR (I1064T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226765	NM_001378068.1(ANKAR):c.3364C>T (p.His1122Tyr)	ANKAR (H1122Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257510	NM_001378068.1(ANKAR):c.3419A>G (p.Glu1140Gly)	ANKAR (E1140G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604046	NM_001378068.1(ANKAR):c.3476G>A (p.Arg1159His)	ANKAR (R1159H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 782940	NM_001378068.1(ANKAR):c.3785A>C (p.Tyr1262Ser)	ANKAR (Y1262S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2651762	NM_001378068.1(ANKAR):c.3815G>A (p.Arg1272His)	ANKAR (R1272H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2223635	NM_001378068.1(ANKAR):c.3863C>T (p.Ala1288Val)	ANKAR (A1288V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2620282	NM_001378068.1(ANKAR):c.3948T>G (p.Ile1316Met)	ANKAR (I1316M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261329	NM_001378068.1(ANKAR):c.4037T>G (p.Ile1346Arg)	ANKAR (I1346R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 785021	NM_001378068.1(ANKAR):c.4047C>T (p.Ile1349=)	ANKAR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2325823	NM_001378068.1(ANKAR):c.4253A>G (p.Asn1418Ser)	ANKAR (N1418S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 785022	NM_001378068.1(ANKAR):c.4256A>T (p.Gln1419Leu)	ANKAR (Q1419L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2262600	NM_001378068.1(ANKAR):c.4267C>T (p.His1423Tyr)	ANKAR (H1423Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288964	NM_001378068.1(ANKAR):c.4280C>A (p.Ala1427Asp)	ANKAR (A1427D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396771	NM_001378068.1(ANKAR):c.4292C>T (p.Pro1431Leu)	ANKAR (P1431L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 774411	NM_022353.3(OSGEPL1):c.1133dup (p.Leu378fs)	ANKAR, OSGEPL1 (L179fs +2 more)	Duplication (frameshift variant +2 more)	not provided	GLikely benign
Select item 2239676	NM_022353.3(OSGEPL1):c.1105G>C (p.Glu369Gln)	OSGEPL1, ANKAR (E170Q +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2486142	NM_022353.3(OSGEPL1):c.982G>A (p.Ala328Thr)	ANKAR, OSGEPL1 (A328T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2373494	NM_022353.3(OSGEPL1):c.970T>G (p.Ser324Ala)	OSGEPL1, ANKAR (S125A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2238228	NM_022353.3(OSGEPL1):c.908G>A (p.Arg303Gln)	OSGEPL1, ANKAR (R104Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2600015	NM_022353.3(OSGEPL1):c.877A>G (p.Met293Val)	ANKAR, OSGEPL1 (M293V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2490802	NM_022353.3(OSGEPL1):c.865G>A (p.Val289Ile)	ANKAR, OSGEPL1 (V142I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 724337	NM_022353.3(OSGEPL1):c.681T>C (p.His227=)	ANKAR, OSGEPL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2278862	NM_022353.3(OSGEPL1):c.653C>A (p.Thr218Asn)	OSGEPL1, ANKAR (T19N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1206187	NM_022353.3(OSGEPL1):c.575C>G (p.Ser192Cys)	ANKAR, OSGEPL1 (S192C +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2487911	NM_022353.3(OSGEPL1):c.521A>C (p.His174Pro)	OSGEPL1, ANKAR (H174P +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2275912	NM_022353.3(OSGEPL1):c.496T>A (p.Leu166Ile)	OSGEPL1, ANKAR (L166I +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2259616	NM_022353.3(OSGEPL1):c.457C>T (p.Leu153Phe)	ANKAR, OSGEPL1 (L153F +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2509585	NM_022353.3(OSGEPL1):c.376G>A (p.Val126Met)	ANKAR, OSGEPL1 (V126M)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2286149	NM_022353.3(OSGEPL1):c.311T>A (p.Val104Asp)	OSGEPL1, ANKAR (V104D)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2354212	NM_022353.3(OSGEPL1):c.124A>T (p.Ile42Phe)	OSGEPL1, ANKAR (I42F)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 714135	NM_022353.3(OSGEPL1):c.79A>C (p.Asn27His)	ANKAR, OSGEPL1 (N27H)	Single nucleotide variant (missense variant +3 more)	not provided	GBenign
Select item 2214385	NM_022353.3(OSGEPL1):c.38A>T (p.Lys13Ile)	OSGEPL1, ANKAR (K13I)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 2424635	NC_000002.11:g.(?_189839216)_(192012929_?)dup	ANKAR, ASNSD1 +17 more	Duplication	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency +2 more	GUncertain significance

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