STEAP3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153085	GRCh38/hg38 2q14.1-14.3(chr2:115302067-129071130)x1	AMMECR1L, BIN1 +254 more	Copy number loss	See cases	GPathogenic
Select item 60184	GRCh38/hg38 2q14.1-21.3(chr2:118086324-134964738)x1	ACMSD, AMER3 +391 more	Copy number loss	See cases	GPathogenic
Select item 155658	GRCh38/hg38 2q14.2-14.3(chr2:118687829-121621814)x1	C1QL2, C2orf76 +92 more	Copy number loss	See cases	GPathogenic
Select item 2474057	NM_182915.3(STEAP3):c.10C>A (p.Gln4Lys)	STEAP3 (Q4K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 729064	NM_182915.3(STEAP3):c.43A>G (p.Met15Val)	STEAP3, STEAP3-AS1 (M15V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2651296	NM_182915.3(STEAP3):c.81C>T (p.Ser27=)	STEAP3, STEAP3-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3031037	NM_182915.3(STEAP3):c.105C>T (p.Pro35=)	STEAP3, STEAP3-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	STEAP3-related condition	GLikely benign
Select item 2651297	NM_182915.3(STEAP3):c.106G>A (p.Asp36Asn)	STEAP3, STEAP3-AS1 (D26N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2786675	NM_182915.3(STEAP3):c.129C>T (p.Ile43=)	STEAP3, STEAP3-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2351098	NM_182915.3(STEAP3):c.151C>T (p.Arg51Cys)	STEAP3-AS1, STEAP3 (R51C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2388455	NM_182915.3(STEAP3):c.152G>A (p.Arg51His)	STEAP3-AS1, STEAP3 (R41H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2406101	NM_182915.3(STEAP3):c.204C>A (p.Ser68Arg)	STEAP3, STEAP3-AS1 (S58R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2238826	NM_182915.3(STEAP3):c.217C>T (p.Arg73Cys)	STEAP3, STEAP3-AS1 (R73C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2234974	NM_182915.3(STEAP3):c.245C>A (p.Ala82Asp)	STEAP3, STEAP3-AS1 (A72D +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2380515	NM_182915.3(STEAP3):c.254C>T (p.Thr85Ile)	STEAP3, STEAP3-AS1 (T85I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2364119	NM_182915.3(STEAP3):c.260A>G (p.Gln87Arg)	STEAP3, STEAP3-AS1 (Q77R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2514560	NM_182915.3(STEAP3):c.281C>T (p.Pro94Leu)	STEAP3, STEAP3-AS1 (P94L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 767818	NM_182915.3(STEAP3):c.282G>A (p.Pro94=)	STEAP3, STEAP3-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 50372	NM_182915.3(STEAP3):c.330C>A (p.Cys110Ter)	STEAP3, STEAP3-AS1 (C100* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Severe congenital hypochromic anemia with ringed sideroblasts	GPathogenic
Select item 3051465	NM_182915.3(STEAP3):c.351G>A (p.Ala117=)	STEAP3, STEAP3-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	STEAP3-related condition	GLikely benign
Select item 2387294	NM_182915.3(STEAP3):c.379C>G (p.Pro127Ala)	STEAP3, STEAP3-AS1 (P117A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2260636	NM_182915.3(STEAP3):c.407G>A (p.Arg136His)	STEAP3-AS1, STEAP3 (R126H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2352607	NM_182915.3(STEAP3):c.421G>A (p.Glu141Lys)	STEAP3, STEAP3-AS1 (E141K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2333130	NM_182915.3(STEAP3):c.436C>A (p.Leu146Ile)	STEAP3-AS1, STEAP3 (L136I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2471901	NM_182915.3(STEAP3):c.470A>G (p.Asn157Ser)	STEAP3, STEAP3-AS1 (N147S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2824966	NM_182915.3(STEAP3):c.522G>C (p.Gln174His)	STEAP3, STEAP3-AS1 (Q164H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2765180	NM_182915.3(STEAP3):c.523-4G>A	STEAP3, STEAP3-AS1	Single nucleotide variant (intron variant)	STEAP3-related condition +1 more	GBenign/Likely benign
Select item 2317460	NM_182915.3(STEAP3):c.526C>G (p.Pro176Ala)	STEAP3-AS1, STEAP3 (P166A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 709721	NM_182915.3(STEAP3):c.535G>A (p.Gly179Ser)	STEAP3, STEAP3-AS1 (G169S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2251158	NM_182915.3(STEAP3):c.556C>T (p.Arg186Cys)	STEAP3-AS1, STEAP3 (R176C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307653	NM_182915.3(STEAP3):c.559G>T (p.Ala187Ser)	STEAP3, STEAP3-AS1 (A177S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2651298	NM_182915.3(STEAP3):c.575C>T (p.Ala192Val)	STEAP3, STEAP3-AS1 (A182V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1554073	NM_182915.3(STEAP3):c.580G>A (p.Ala194Thr)	STEAP3, STEAP3-AS1 (A184T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2720268	NM_182915.3(STEAP3):c.598G>A (p.Val200Met)	STEAP3, STEAP3-AS1 (V190M +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2651299	NM_182915.3(STEAP3):c.615G>A (p.Leu205=)	STEAP3, STEAP3-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2850486	NM_182915.3(STEAP3):c.632T>C (p.Val211Ala)	STEAP3, STEAP3-AS1 (V201A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1900011	NM_182915.3(STEAP3):c.637G>A (p.Ala213Thr)	STEAP3, STEAP3-AS1 (A213T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2651300	NM_182915.3(STEAP3):c.645C>T (p.Pro215=)	STEAP3, STEAP3-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 729065	NM_182915.3(STEAP3):c.645C>G (p.Pro215=)	STEAP3, STEAP3-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 749483	NM_182915.3(STEAP3):c.648G>A (p.Leu216=)	STEAP3, STEAP3-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2896855	NM_182915.3(STEAP3):c.649C>A (p.Arg217Ser)	STEAP3, STEAP3-AS1 (R217S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 719383	NM_182915.3(STEAP3):c.677C>T (p.Thr226Ile)	STEAP3, STEAP3-AS1 (T226I +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2394771	NM_182915.3(STEAP3):c.700G>A (p.Val234Ile)	STEAP3-AS1, STEAP3 (V224I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2598875	NM_182915.3(STEAP3):c.719A>G (p.Asn240Ser)	STEAP3, STEAP3-AS1 (N230S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2395461	NM_182915.3(STEAP3):c.746A>C (p.Tyr249Ser)	STEAP3-AS1, STEAP3 (Y249S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2761630	NM_182915.3(STEAP3):c.776A>G (p.Lys259Arg)	STEAP3, STEAP3-AS1 (K249R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2180459	NM_182915.3(STEAP3):c.813C>A (p.Cys271Ter)	STEAP3, STEAP3-AS1 (C271* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely benign
Select item 2300490	NM_182915.3(STEAP3):c.815T>A (p.Val272Glu)	STEAP3-AS1, STEAP3 (V272E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1574493	NM_182915.3(STEAP3):c.830T>C (p.Leu277Pro)	STEAP3, STEAP3-AS1 (L267P +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1538432	NM_182915.3(STEAP3):c.837C>T (p.Leu279=)	STEAP3, STEAP3-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 788085	NM_182915.3(STEAP3):c.881G>A (p.Arg294His)	STEAP3, STEAP3-AS1 (R294H +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2397469	NM_182915.3(STEAP3):c.898C>T (p.Arg300Cys)	STEAP3-AS1, STEAP3 (R300C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 730212	NM_182915.3(STEAP3):c.899G>A (p.Arg300His)	STEAP3, STEAP3-AS1 (R300H +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2358896	NM_182915.3(STEAP3):c.944T>C (p.Ile315Thr)	STEAP3, STEAP3-AS1 (I305T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2219239	NM_182915.3(STEAP3):c.967G>A (p.Ala323Thr)	STEAP3, STEAP3-AS1 (A323T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3025339	NM_182915.3(STEAP3):c.978C>T (p.His326=)	STEAP3, STEAP3-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1671561	NM_182915.3(STEAP3):c.1002G>A (p.Pro334=)	STEAP3, STEAP3-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2706189	NM_182915.3(STEAP3):c.1006C>T (p.Arg336Cys)	STEAP3, STEAP3-AS1 (R326C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2054792	NM_182915.3(STEAP3):c.1007G>A (p.Arg336His)	STEAP3, STEAP3-AS1 (R326H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 712428	NM_182915.3(STEAP3):c.1011C>T (p.Arg337=)	STEAP3, STEAP3-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 708749	NM_182915.3(STEAP3):c.1019G>A (p.Arg340His)	STEAP3, STEAP3-AS1 (R340H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 744320	NM_182915.3(STEAP3):c.1023C>T (p.Tyr341=)	STEAP3, STEAP3-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2021480	NM_182915.3(STEAP3):c.1050+12A>G	STEAP3, STEAP3-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1989965	NM_182915.3(STEAP3):c.1051-20T>C	STEAP3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2811994	NM_182915.3(STEAP3):c.1099A>C (p.Met367Leu)	STEAP3 (M367L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1690874	NM_182915.3(STEAP3):c.1135G>T (p.Gly379Cys)	STEAP3 (G369C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1354813	NM_182915.3(STEAP3):c.1156G>A (p.Val386Met)	STEAP3 (V386M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 723023	NM_182915.3(STEAP3):c.1196G>A (p.Arg399Lys)	STEAP3 (R399K +1 more)	Single nucleotide variant (missense variant)	STEAP3-related condition +1 more	GLikely benign
Select item 1601345	NM_182915.3(STEAP3):c.1203C>T (p.Phe401=)	STEAP3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2072054	NM_182915.3(STEAP3):c.1210G>A (p.Val404Ile)	STEAP3 (V404I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2651301	NM_182915.3(STEAP3):c.1215+2604C>T	STEAP3	Single nucleotide variant (intron variant)	STEAP3-related condition +1 more	GLikely benign
Select item 3043604	NM_182915.3(STEAP3):c.1215+2737C>T	STEAP3	Single nucleotide variant (synonymous variant +1 more)	STEAP3-related condition	GBenign
Select item 3056077	NM_182915.3(STEAP3):c.1215+2773A>T	STEAP3 (Q450H)	Single nucleotide variant (missense variant +1 more)	STEAP3-related condition	GBenign
Select item 788511	NM_182915.3(STEAP3):c.1218C>T (p.Ser406=)	STEAP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2985557	NM_182915.3(STEAP3):c.1240G>A (p.Val414Met)	STEAP3 (V414M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2145855	NM_182915.3(STEAP3):c.1259C>T (p.Thr420Met)	STEAP3 (T410M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 793423	NM_182915.3(STEAP3):c.1269C>T (p.Tyr423=)	STEAP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2472849	NM_182915.3(STEAP3):c.1270G>A (p.Gly424Ser)	STEAP3 (G414S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2531135	NM_182915.3(STEAP3):c.1280G>C (p.Arg427Pro)	STEAP3 (R417P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2651302	NM_182915.3(STEAP3):c.1330C>G (p.Leu444Val)	STEAP3 (L434V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 729111	NM_182915.3(STEAP3):c.1338G>A (p.Leu446=)	STEAP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2867851	NM_182915.3(STEAP3):c.1422C>G (p.Gly474=)	STEAP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2249142	NM_182915.3(STEAP3):c.1430G>A (p.Arg477Lys)	STEAP3 (R477K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 728143	NM_182915.3(STEAP3):c.1451C>T (p.Thr484Met)	STEAP3 (T484M +1 more)	Single nucleotide variant (missense variant +1 more)	STEAP3-related condition +1 more	GBenign/Likely benign
Select item 2178450	NM_182915.3(STEAP3):c.1468G>A (p.Ala490Thr)	STEAP3 (A480T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2651303	NM_182915.3(STEAP3):c.1479G>A (p.Glu493=)	STEAP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3062651	GRCh37/hg19 2q12.2-21.2(chr2:106755586-134302739)x1	ACOXL, ACTR3 +121 more	Copy number loss	not specified	GPathogenic
Select item 3062627	GRCh37/hg19 2q14.1-14.3(chr2:116646793-126388760)x1	C1QL2, C2orf76 +22 more	Copy number loss	not specified	GLikely pathogenic
Select item 1809385	GRCh37/hg19 2q14.1-14.3(chr2:116761476-123897262)x1	C1QL2, C2orf76 +21 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 1679114	GRCh37/hg19 2q13-22.3(chr2:112475655-145691999)x3	EPB41L5, ERCC3 +120 more	Copy number gain	2q13q22.3 microduplication syndrome	GPathogenic
Select item 1526888	GRCh37/hg19 2q13-14.3(chr2:113188197-128144700)	ACTR3, BIN1 +51 more	Copy number loss	not specified	GPathogenic
Select item 1341292	GRCh37/hg19 2q14.2(chr2:118991485-120025223)x1	C1QL2, EN1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 1341178	GRCh37/hg19 2q14.2(chr2:119967365-121555029)x3	C2orf76, DBI +10 more	Copy number gain	not provided	GUncertain significance
Select item 1340017	GRCh37/hg19 2q13-22.3(chr2:111484468-146333604)x3	GPR39, IL1F10 +122 more	Copy number gain	not provided	GPathogenic
Select item 814300	GRCh37/hg19 2q14.2(chr2:119905466-120016024)x1	STEAP3, C1QL2	Copy number loss	not provided	GUncertain significance
Select item 814299	GRCh37/hg19 2q14.2(chr2:119859810-120157980)x3	DBI, C2orf76 +2 more	Copy number gain	not provided	GLikely benign
Select item 814298	GRCh37/hg19 2q14.2-14.3(chr2:118903294-123099547)x1	TMEM177, TFCP2L1 +18 more	Copy number loss	not provided	GPathogenic
Select item 814297	GRCh37/hg19 2q14.2-14.3(chr2:118872395-128069813)x1	BIN1, PTPN4 +24 more	Copy number loss	not provided	GPathogenic
Select item 814296	GRCh37/hg19 2q14.1-14.2(chr2:115416190-122399064)x1	TMEM177, C2orf76 +20 more	Copy number loss	not provided	GPathogenic

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