ClinVar for Gene (Select 316) - ClinVar

Links from Gene

Items: 99

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3341537	NM_001159.4(AOX1):c.3954G>A (p.Lys1318=)	AOX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3300155	NM_001159.4(AOX1):c.1543A>G (p.Lys515Glu)	AOX1 (K515E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300149	NM_001159.4(AOX1):c.2873A>G (p.Glu958Gly)	AOX1 (E958G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300138	NM_001159.4(AOX1):c.1180G>A (p.Glu394Lys)	AOX1 (E394K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300128	NM_001159.4(AOX1):c.2464G>A (p.Ala822Thr)	AOX1 (A822T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300117	NM_001159.4(AOX1):c.3640C>T (p.Leu1214Phe)	AOX1 (L1214F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3250556	NM_001159.4(AOX1):c.3076-4T>G	AOX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3127415	NM_001159.4(AOX1):c.830T>A (p.Phe277Tyr)	AOX1 (F277Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127413	NM_001159.4(AOX1):c.2921T>C (p.Ile974Thr)	AOX1 (I974T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127411	NM_001159.4(AOX1):c.232A>G (p.Ile78Val)	AOX1 (I78V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127410	NM_001159.4(AOX1):c.2281G>A (p.Val761Ile)	AOX1 (V761I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127409	NM_001159.4(AOX1):c.1306A>G (p.Asn436Asp)	AOX1 (N436D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062594	GRCh37/hg19 2q32.3-34(chr2:194305623-215261531)x1	ABI2, ACADL +95 more	Copy number loss	not specified	GPathogenic
Select item 2651813	NM_001159.4(AOX1):c.2400A>G (p.Val800=)	AOX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2651812	NM_001159.4(AOX1):c.2106G>A (p.Pro702=)	AOX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2624390	NM_001159.4(AOX1):c.3088G>C (p.Val1030Leu)	AOX1 (V1030L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620628	NM_001159.4(AOX1):c.2309A>G (p.Asp770Gly)	AOX1 (D770G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620283	NM_001159.4(AOX1):c.3439T>G (p.Ser1147Ala)	AOX1 (S1147A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615782	NM_001159.4(AOX1):c.46G>A (p.Val16Met)	AOX1 (V16M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614846	NM_001159.4(AOX1):c.546T>A (p.Asp182Glu)	AOX1 (D182E)	Single nucleotide variant (missense variant)	not specified	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 2556050	NM_001159.4(AOX1):c.3061C>T (p.Arg1021Cys)	AOX1 (R1021C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546573	NM_001159.4(AOX1):c.350G>A (p.Cys117Tyr)	AOX1 (C117Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543619	NM_001159.4(AOX1):c.2044T>G (p.Ser682Ala)	AOX1 (S682A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539927	NM_001159.4(AOX1):c.634C>G (p.Pro212Ala)	AOX1 (P212A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537353	NM_001159.4(AOX1):c.1094A>T (p.Asp365Val)	AOX1, LOC126806468 (D365V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530703	NM_001159.4(AOX1):c.2758T>C (p.Phe920Leu)	AOX1 (F920L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2521946	NM_001159.4(AOX1):c.1961G>A (p.Cys654Tyr)	AOX1 (C654Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520221	NM_001159.4(AOX1):c.596C>T (p.Pro199Leu)	AOX1 (P199L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496246	NM_001159.4(AOX1):c.2666T>C (p.Met889Thr)	AOX1 (M889T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479013	NM_001159.4(AOX1):c.764T>G (p.Phe255Cys)	AOX1 (F255C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411659	NM_001159.4(AOX1):c.3478G>A (p.Glu1160Lys)	AOX1 (E1160K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400219	NM_001159.4(AOX1):c.2621G>A (p.Ser874Asn)	AOX1 (S874N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392737	NM_001159.4(AOX1):c.10G>C (p.Ala4Pro)	AOX1 (A4P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386664	NM_001159.4(AOX1):c.1507C>G (p.Leu503Val)	AOX1 (L503V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385025	NM_001159.4(AOX1):c.1756C>A (p.His586Asn)	AOX1 (H586N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382761	NM_001159.4(AOX1):c.2402G>A (p.Arg801Lys)	AOX1 (R801K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2357871	NM_001159.4(AOX1):c.2477A>G (p.Asn826Ser)	AOX1 (N826S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324109	NM_001159.4(AOX1):c.3337A>C (p.Ile1113Leu)	AOX1 (I1113L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311775	NM_001159.4(AOX1):c.1483A>G (p.Arg495Gly)	AOX1 (R495G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306090	NM_001159.4(AOX1):c.1522C>T (p.Pro508Ser)	AOX1 (P508S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293328	NM_001159.4(AOX1):c.1166A>T (p.Gln389Leu)	AOX1 (Q389L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291046	NM_001159.4(AOX1):c.113C>T (p.Thr38Ile)	AOX1 (T38I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271236	NM_001159.4(AOX1):c.1163G>A (p.Arg388Gln)	AOX1 (R388Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259862	NM_001159.4(AOX1):c.377A>G (p.Tyr126Cys)	AOX1 (Y126C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259279	NM_001159.4(AOX1):c.1708A>G (p.Ile570Val)	AOX1 (I570V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2257555	NM_001159.4(AOX1):c.2348A>T (p.Asp783Val)	AOX1 (D783V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248435	NM_001159.4(AOX1):c.3599A>G (p.Asp1200Gly)	AOX1 (D1200G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246615	NM_001159.4(AOX1):c.920G>A (p.Gly307Asp)	AOX1, LOC126806468 (G307D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245214	NM_001159.4(AOX1):c.227T>C (p.Ile76Thr)	AOX1 (I76T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2237484	NM_001159.4(AOX1):c.2920A>G (p.Ile974Val)	AOX1 (I974V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225312	NM_001159.4(AOX1):c.1585G>C (p.Glu529Gln)	AOX1 (E529Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211640	NM_001159.4(AOX1):c.2020C>T (p.Leu674Phe)	AOX1 (L674F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808483	GRCh37/hg19 2q32.2-34(chr2:189909904-209468383)x1	ABI2, ADAM23 +107 more	Copy number loss	not provided	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1703524	GRCh37/hg19 2q32.1-34(chr2:185697659-213002074)	ABI2, ACADL +127 more	Copy number loss	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 1526943	GRCh37/hg19 2q33.1-34(chr2:200851079-209054267)	ABI2, ADAM23 +58 more	Copy number loss	not specified	GPathogenic
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 1301583	NM_001159.4(AOX1):c.1303G>T (p.Glu435Ter)	AOX1 (E435*)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 813263	Single allele	ABI2, ALS2 +35 more	Deletion	Pulmonary arterial hypertension	GPathogenic
Select item 791884	NM_001159.4(AOX1):c.2211A>G (p.Gln737=)	AOX1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 790513	NM_001159.4(AOX1):c.3792A>G (p.Ser1264=)	AOX1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 790512	NM_001159.4(AOX1):c.3735C>T (p.Pro1245=)	AOX1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 775806	NM_001159.4(AOX1):c.3248C>G (p.Ala1083Gly)	AOX1 (A1083G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 773128	NM_001159.4(AOX1):c.3120C>T (p.Val1040=)	AOX1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 769577	NM_001159.4(AOX1):c.1793T>A (p.Ile598Asn)	AOX1 (I598N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 767840	NM_001159.4(AOX1):c.941A>G (p.Gln314Arg)	AOX1, LOC126806468 (Q314R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 767839	NM_001159.4(AOX1):c.907+3G>A	AOX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 741428	NM_001159.4(AOX1):c.717G>A (p.Glu239=)	AOX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 740742	NM_001159.4(AOX1):c.2010T>C (p.Cys670=)	AOX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 737210	NM_001159.4(AOX1):c.1449G>A (p.Arg483=)	AOX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 726849	NM_001159.4(AOX1):c.1657T>C (p.Leu553=)	AOX1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 718068	NM_001159.4(AOX1):c.390G>A (p.Arg130=)	AOX1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 635897	Single allele	ACSL3, ADAM23 +208 more	Duplication	Neurodevelopmental disorder	GPathogenic
Select item 562676	GRCh37/hg19 2q32.2-33.1(chr2:191750202-202297376)x1	ANKRD44, AOX1 +45 more	Copy number loss	not provided	GPathogenic
Select item 562673	GRCh37/hg19 2q32.3-33.1(chr2:193537927-202027736)x1	HSPD1, DNAH7 +34 more	Copy number loss	not provided	GPathogenic
Select item 562522	GRCh37/hg19 2q33.1(chr2:201504289-201633941)x3	AOX1	Copy number gain	not provided	GUncertain significance
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 394652	GRCh37/hg19 2q32.3-33.1(chr2:194581315-201752422)x1	ANKRD44, AOX1 +28 more	Copy number loss	See cases	GPathogenic
Select item 253679	GRCh37/hg19 2q33.1(chr2:200776457-203070949)x3	ALS2, AOX1 +25 more	Copy number gain	See cases	GUncertain significance
Select item 221794	GRCh37/hg19 2q33.1(chr2:200250898-201845999)x3	NIF3L1, KCTD18 +13 more	Copy number gain	Premature ovarian failure	GUncertain significance
Select item 155234	GRCh38/hg38 2q33.1-34(chr2:199937273-210031924)x1	ABI2, ADAM23 +298 more	Copy number loss	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 152738	GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1	ABCA12, ABI2 +509 more	Copy number loss	See cases	GPathogenic
Select item 152538	GRCh38/hg38 2q33.1-34(chr2:199946494-209985195)x1	ABI2, ADAM23 +293 more	Copy number loss	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 147739	GRCh38/hg38 2q33.1(chr2:200346708-201156417)x1	AOX1, BZW1 +45 more	Copy number loss	See cases	GPathogenic
Select item 147402	GRCh38/hg38 2q33.1(chr2:198767347-202353840)x1	ALS2, AOX1 +117 more	Copy number loss	See cases	GPathogenic
Select item 146616	GRCh38/hg38 2q32.1-33.1(chr2:186027472-201059372)x1	ANKAR, ANKRD44 +329 more	Copy number loss	See cases	GPathogenic
Select item 146362	GRCh38/hg38 2q33.1(chr2:197400023-202089348)x1	ALS2, AOX1 +145 more	Copy number loss	See cases	GLikely pathogenic
Select item 146015	GRCh38/hg38 2q32.3-33.2(chr2:195660594-203969488)x1	ABI2, ALS2 +279 more	Copy number loss	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	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 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	LOC129935164, LOC129935165 +697 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 99