ClinVar for Gene (Select 100506713) - ClinVar

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Links from Gene

Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3350372	NM_000697.3(ALOX12):c.1418+40_1418+41insTG	ALOX12, ALOX12-AS1	Insertion (intron variant)	ALOX12-related condition	GLikely benign
Select item 3287968	NM_000697.3(ALOX12):c.1472G>A (p.Gly491Glu)	ALOX12, ALOX12-AS1 (G491E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287958	NM_000697.3(ALOX12):c.772G>A (p.Glu258Lys)	ALOX12, ALOX12-AS1 (E258K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287953	NM_000697.3(ALOX12):c.1348C>T (p.Arg450Trp)	ALOX12, ALOX12-AS1 (R450W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287941	NM_000697.3(ALOX12):c.1179C>G (p.Ile393Met)	ALOX12, ALOX12-AS1 (I393M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3256964	NM_000697.3(ALOX12):c.399A>C (p.Lys133Asn)	ALOX12, ALOX12-AS1 (K133N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3112577	NM_000697.3(ALOX12):c.986C>A (p.Thr329Lys)	ALOX12, ALOX12-AS1 (T329K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112573	NM_000697.3(ALOX12):c.61C>A (p.Arg21Ser)	ALOX12, ALOX12-AS1 (R21S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112569	NM_000697.3(ALOX12):c.571T>C (p.Tyr191His)	ALOX12, ALOX12-AS1 (Y191H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112565	NM_000697.3(ALOX12):c.548T>C (p.Leu183Pro)	ALOX12, ALOX12-AS1 (L183P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112561	NM_000697.3(ALOX12):c.541G>A (p.Gly181Arg)	ALOX12, ALOX12-AS1 (G181R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112547	NM_000697.3(ALOX12):c.341G>A (p.Arg114His)	ALOX12, ALOX12-AS1 (R114H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112534	NM_000697.3(ALOX12):c.223G>A (p.Ala75Thr)	ALOX12, ALOX12-AS1 (A75T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112528	NM_000697.3(ALOX12):c.207C>A (p.His69Gln)	ALOX12, ALOX12-AS1 (H69Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112514	NM_000697.3(ALOX12):c.1853C>T (p.Pro618Leu)	ALOX12, ALOX12-AS1 (P618L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112509	NM_000697.3(ALOX12):c.1816C>G (p.Pro606Ala)	ALOX12, ALOX12-AS1 (P606A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112506	NM_000697.3(ALOX12):c.1799G>A (p.Arg600His)	ALOX12, ALOX12-AS1 (R600H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112498	NM_000697.3(ALOX12):c.1736G>C (p.Gly579Ala)	ALOX12, ALOX12-AS1 (G579A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112485	NM_000697.3(ALOX12):c.1594T>A (p.Cys532Ser)	ALOX12, ALOX12-AS1 (C532S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3112477	NM_000697.3(ALOX12):c.1413T>G (p.Ile471Met)	ALOX12, ALOX12-AS1 (I471M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112472	NM_000697.3(ALOX12):c.1381G>A (p.Ala461Thr)	ALOX12, ALOX12-AS1 (A461T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112466	NM_000697.3(ALOX12):c.1180C>T (p.Arg394Cys)	ALOX12, ALOX12-AS1 (R394C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647317	NM_000697.3(ALOX12):c.1029A>C (p.Ala343=)	ALOX12, ALOX12-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647316	NM_000697.3(ALOX12):c.349G>C (p.Gly117Arg)	ALOX12, ALOX12-AS1 (G117R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2598722	NM_000697.3(ALOX12):c.1619A>G (p.His540Arg)	ALOX12, ALOX12-AS1 (H540R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2592950	NM_000697.3(ALOX12):c.1208C>T (p.Ala403Val)	ALOX12, ALOX12-AS1 (A403V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 2566684	NM_000697.3(ALOX12):c.1504A>T (p.Ile502Phe)	ALOX12, ALOX12-AS1 (I502F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537580	NM_000697.3(ALOX12):c.395T>G (p.Leu132Arg)	ALOX12, ALOX12-AS1 (L132R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534154	NM_000697.3(ALOX12):c.1796G>A (p.Arg599His)	ALOX12, ALOX12-AS1 (R599H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514441	NM_000697.3(ALOX12):c.1091C>T (p.Thr364Ile)	ALOX12, ALOX12-AS1 (T364I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479149	NM_000697.3(ALOX12):c.797A>G (p.Lys266Arg)	ALOX12, ALOX12-AS1 (K266R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2467649	NM_000697.3(ALOX12):c.404G>A (p.Arg135Lys)	ALOX12, ALOX12-AS1 (R135K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398481	NM_000697.3(ALOX12):c.1988T>C (p.Ile663Thr)	ALOX12, ALOX12-AS1 (I663T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394557	NM_000697.3(ALOX12):c.1010C>G (p.Pro337Arg)	ALOX12, ALOX12-AS1 (P337R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392090	NM_000697.3(ALOX12):c.1604C>T (p.Thr535Met)	ALOX12, ALOX12-AS1 (T535M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2381381	NM_000697.3(ALOX12):c.728G>A (p.Arg243His)	ALOX12, ALOX12-AS1 (R243H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322966	NM_000697.3(ALOX12):c.1093C>G (p.His365Asp)	ALOX12, ALOX12-AS1 (H365D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287353	NM_000697.3(ALOX12):c.275T>C (p.Val92Ala)	ALOX12, ALOX12-AS1 (V92A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2261370	NM_000697.3(ALOX12):c.966C>A (p.Asn322Lys)	ALOX12, ALOX12-AS1 (N322K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230942	NM_000697.3(ALOX12):c.340C>T (p.Arg114Cys)	ALOX12, ALOX12-AS1 (R114C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1294133	NM_000697.3(ALOX12):c.807+102A>G	ALOX12, ALOX12-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289083	NM_000697.3(ALOX12):c.337+16C>T	ALOX12, ALOX12-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277668	NM_000697.3(ALOX12):c.338-156G>A	ALOX12, ALOX12-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276383	NM_000697.3(ALOX12):c.1902G>A (p.Leu634=)	ALOX12, ALOX12-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1269983	NC_000017.11:g.6995799C>T	ALOX12, ALOX12-AS1	Single nucleotide variant	not provided	GBenign
Select item 1269497	NM_000697.3(ALOX12):c.123C>G (p.Pro41=)	ALOX12, ALOX12-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1266618	NM_000697.3(ALOX12):c.808-118G>A	ALOX12, ALOX12-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263911	NM_000697.3(ALOX12):c.1540+285T>G	ALOX12, ALOX12-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262104	NM_000697.3(ALOX12):c.542+23G>A	ALOX12, ALOX12-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262015	NM_000697.3(ALOX12):c.337+98T>G	ALOX12, ALOX12-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259628	NM_000697.3(ALOX12):c.765G>A (p.Ser255=)	ALOX12, ALOX12-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1259077	NM_000697.3(ALOX12):c.807+25A>T	ALOX12, ALOX12-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251805	NM_000697.3(ALOX12):c.1161+228C>T	ALOX12, ALOX12-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248100	NM_000697.3(ALOX12):c.1541-264T>A	ALOX12, ALOX12-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247877	NM_000697.3(ALOX12):c.1092T>G (p.Thr364=)	ALOX12, ALOX12-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1245488	NM_000697.3(ALOX12):c.951+200C>T	ALOX12, ALOX12-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244882	NM_000697.3(ALOX12):c.1418+32_1418+33del	ALOX12, ALOX12-AS1	Deletion (intron variant)	not provided	GBenign
Select item 1238555	NM_000697.3(ALOX12):c.1248+241G>A	ALOX12, ALOX12-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238014	NM_000697.3(ALOX12):c.1418+32C>T	ALOX12, ALOX12-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235859	NM_000697.3(ALOX12):c.135+58C>T	ALOX12, ALOX12-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234828	NM_000697.3(ALOX12):c.1452A>G (p.Gln484=)	ALOX12, ALOX12-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1233269	NM_000697.3(ALOX12):c.965A>G (p.Asn322Ser)	ALOX12, ALOX12-AS1 (N322S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1230948	NM_000697.3(ALOX12):c.1540+282A>G	ALOX12, ALOX12-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224924	NM_000697.3(ALOX12):c.337+37T>C	ALOX12, ALOX12-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224614	NM_000697.3(ALOX12):c.782A>G (p.Gln261Arg)	ALOX12, ALOX12-AS1 (Q261R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1222883	NM_000697.3(ALOX12):c.1541-20G>A	ALOX12, ALOX12-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220801	NM_000697.3(ALOX12):c.136-69G>A	ALOX12, ALOX12-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182711	NM_000697.3(ALOX12):c.135+160T>C	ALOX12-AS1, ALOX12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179701	NM_000697.3(ALOX12):c.951+146G>A	ALOX12, ALOX12-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178469	NM_000697.3(ALOX12):c.646+84T>C	ALOX12, ALOX12-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178415	NC_000017.11:g.6995902G>A	ALOX12, ALOX12-AS1	Single nucleotide variant	not provided	GBenign
Select item 791340	NM_000697.3(ALOX12):c.566G>A (p.Arg189His)	ALOX12, ALOX12-AS1 (R189H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 783067	NM_000697.3(ALOX12):c.1211G>A (p.Arg404Gln)	ALOX12, ALOX12-AS1 (R404Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 714724	NM_000697.3(ALOX12):c.1289G>A (p.Arg430His)	ALOX12, ALOX12-AS1 (R430H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 150350	GRCh38/hg38 17p13.1(chr17:6891357-7264234)x3	ACADVL, ALOX12 +53 more	Copy number gain	See cases	GUncertain significance
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 149166	GRCh38/hg38 17p13.2-13.1(chr17:6361393-7750863)x3	ACADVL, ACAP1 +182 more	Copy number gain	See cases	GLikely pathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	TRARG1, TRPV1 +651 more	Copy number loss	See cases	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	LOC130059937, LOC130059938 +604 more	Copy number gain	See cases	GPathogenic
Select item 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	ACADVL, ACAP1 +461 more	Copy number gain	See cases	GPathogenic
Select item 144281	GRCh38/hg38 17p13.1(chr17:6958978-7491129)x3	ACADVL, ACAP1 +106 more	Copy number gain	See cases	GUncertain significance
Select item 59563	GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1	AIPL1, ALOX12 +290 more	Copy number loss	See cases	GPathogenic
Select item 57356	GRCh38/hg38 17p13.2-13.1(chr17:5732977-8038822)x1	SPEM3, TEKT1 +229 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 85