STEAP3-AS1[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 71

	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 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 3171179	NM_182915.3(STEAP3):c.46G>T (p.Asp16Tyr)	STEAP3, STEAP3-AS1 (D16Y +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
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 disorder	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, STEAP3-AS1 (R51C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2388455	NM_182915.3(STEAP3):c.152G>A (p.Arg51His)	STEAP3, STEAP3-AS1 (R41H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3323219	NM_182915.3(STEAP3):c.182G>A (p.Gly61Asp)	STEAP3, STEAP3-AS1 (G51D +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	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)	not specified	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)	not provided +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)	not specified	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)	not specified	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)	not specified +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)	not specified	GUncertain significance
Select item 767818	NM_182915.3(STEAP3):c.282G>A (p.Pro94=)	STEAP3, STEAP3-AS1	Single nucleotide variant (non-coding transcript 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 disorder	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)	not specified	GUncertain significance
Select item 2260636	NM_182915.3(STEAP3):c.407G>A (p.Arg136His)	STEAP3, STEAP3-AS1 (R126H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2352607	NM_182915.3(STEAP3):c.421G>A (p.Glu141Lys)	STEAP3, STEAP3-AS1 (E141K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 2333130	NM_182915.3(STEAP3):c.436C>A (p.Leu146Ile)	STEAP3, STEAP3-AS1 (L136I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 2824966	NM_182915.3(STEAP3):c.522G>C (p.Gln174His)	STEAP3, STEAP3-AS1 (Q164H +1 more)	Single nucleotide variant (non-coding transcript 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)	not provided	GBenign
Select item 2317460	NM_182915.3(STEAP3):c.526C>G (p.Pro176Ala)	STEAP3, STEAP3-AS1 (P166A +1 more)	Single nucleotide variant (missense variant)	not specified	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, STEAP3-AS1 (R176C +1 more)	Single nucleotide variant (missense variant)	not specified	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)	not specified	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-AS1, STEAP3 (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 specified +1 more	GConflicting classifications of pathogenicity
Select item 3171180	NM_182915.3(STEAP3):c.613C>G (p.Leu205Val)	STEAP3, STEAP3-AS1 (L195V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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, STEAP3-AS1 (V224I +1 more)	Single nucleotide variant (missense variant)	not specified	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, STEAP3-AS1 (Y249S +1 more)	Single nucleotide variant (missense variant)	not specified	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 3171182	NM_182915.3(STEAP3):c.814G>A (p.Val272Met)	STEAP3, STEAP3-AS1 (V262M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300490	NM_182915.3(STEAP3):c.815T>A (p.Val272Glu)	STEAP3, STEAP3-AS1 (V272E +1 more)	Single nucleotide variant (missense variant)	not specified	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-AS1, STEAP3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3323217	NM_182915.3(STEAP3):c.853G>A (p.Val285Met)	STEAP3, STEAP3-AS1 (V275M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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, STEAP3-AS1 (R300C +1 more)	Single nucleotide variant (missense variant)	not specified	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 3256185	NM_182915.3(STEAP3):c.959TCT[1] (p.Phe321del)	STEAP3, STEAP3-AS1 (F311del +1 more)	Microsatellite (inframe_deletion)	not specified	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)	not specified	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 3171174	NM_182915.3(STEAP3):c.1001C>T (p.Pro334Leu)	STEAP3, STEAP3-AS1 (P334L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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	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 3171175	NM_182915.3(STEAP3):c.1031T>A (p.Val344Asp)	STEAP3, STEAP3-AS1 (V334D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171176	NM_182915.3(STEAP3):c.1033A>T (p.Asn345Tyr)	STEAP3, STEAP3-AS1 (N335Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2021480	NM_182915.3(STEAP3):c.1050+12A>G	STEAP3, STEAP3-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 71