tumor protein p53 inducible protein 12 - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	LOC129932855, LOC129932856 +1168 more	Copy number gain	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	TARBP1, TBCE +968 more	Copy number gain	See cases	GPathogenic
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LINC02765, LINC02768 +955 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	LOC440742, LYPD8 +955 more	Copy number gain	See cases	GPathogenic
Select item 1809372	GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3	ABCB10, ACBD3 +185 more	Copy number gain	not provided	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 929379	GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3	CHML, CHRM3 +250 more	Copy number gain	See cases	GPathogenic
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 814168	GRCh37/hg19 1q41-42.2(chr1:223653722-234591807)x1	FBXO28, ACBD3 +83 more	Copy number loss	not provided	GPathogenic
Select item 814163	GRCh37/hg19 1q41-43(chr1:219916966-239004378)x3	CCDC185, NTPCR +127 more	Copy number gain	not provided	GPathogenic
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 565225	GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3	H2BC26, H3-3A +213 more	Copy number gain	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	AVPR1B, B3GALNT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 153520	GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3	LOC129933244, LOC129933245 +653 more	Copy number gain	See cases	GPathogenic
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806103, LOC126806104 +1047 more	Copy number gain	See cases	GPathogenic
Select item 148269	GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3	LOC129933186, LOC129933187 +736 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	ABHD1, ACP1 +893 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 153817	GRCh38/hg38 2p24.1-23.2(chr2:22579652-28525186)x1	TRY-GTA2-1, UBXN2A +321 more	Copy number loss	See cases	GPathogenic
Select item 148077	GRCh38/hg38 2p24.1-23.3(chr2:23789282-24087112)x1	ATAD2B, FAM228B +19 more	Copy number loss	See cases	GUncertain significance
Select item 3033021	NM_004881.5(TP53I3):c.*8T>G	FAM228B, TP53I3	Single nucleotide variant (3 prime UTR variant +1 more)	TP53I3-related disorder	GLikely benign
Select item 3348639	NM_004881.5(TP53I3):c.*7A>G	FAM228B, TP53I3	Single nucleotide variant (3 prime UTR variant +1 more)	TP53I3-related disorder	GLikely benign
Select item 2511457	NM_004881.5(TP53I3):c.950T>C (p.Met317Thr)	FAM228B, TP53I3 (M317T)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2288815	NM_004881.5(TP53I3):c.931C>G (p.Gln311Glu)	FAM228B, TP53I3 (Q311E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181436	NM_004881.5(TP53I3):c.923C>T (p.Thr308Ile)	FAM228B, TP53I3 (T308I)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 3060882	NM_004881.5(TP53I3):c.885A>G (p.Gln295=)	FAM228B, TP53I3 (T230A)	Single nucleotide variant (missense variant +2 more)	TP53I3-related disorder	GBenign
Select item 2634492	NM_004881.5(TP53I3):c.879C>T (p.Gly293=)	FAM228B, TP53I3 (P228S)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2629628	NM_004881.5(TP53I3):c.817-8T>C	FAM228B, TP53I3	Single nucleotide variant (intron variant)	TP53I3-related disorder	GLikely benign
Select item 3039519	NM_004881.5(TP53I3):c.813T>G (p.Asn271Lys)	FAM228B, TP53I3 (N271K)	Single nucleotide variant (missense variant +1 more)	TP53I3-related disorder	GLikely benign
Select item 3054842	NM_004881.5(TP53I3):c.804T>C (p.Ser268=)	FAM228B, TP53I3	Single nucleotide variant (synonymous variant +1 more)	TP53I3-related disorder	GLikely benign
Select item 2523965	NM_004881.5(TP53I3):c.785T>C (p.Ile262Thr)	FAM228B, TP53I3 (I262T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3053556	NM_004881.5(TP53I3):c.755C>G (p.Ser252Ter)	FAM228B, TP53I3 (S252*)	Single nucleotide variant (nonsense +1 more)	TP53I3-related disorder	GLikely benign
Select item 2369558	NM_004881.5(TP53I3):c.754T>C (p.Ser252Pro)	FAM228B, TP53I3 (S252P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3328220	NM_004881.5(TP53I3):c.746C>A (p.Pro249His)	TP53I3, FAM228B (P249H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3030592	NM_004881.5(TP53I3):c.732T>C (p.Gly244=)	FAM228B, TP53I3	Single nucleotide variant (synonymous variant +1 more)	TP53I3-related disorder	GLikely benign
Select item 3350961	NM_004881.5(TP53I3):c.700C>T (p.Arg234Ter)	FAM228B, TP53I3 (R234*)	Single nucleotide variant (nonsense +1 more)	TP53I3-related disorder	GUncertain significance
Select item 3047782	NM_004881.5(TP53I3):c.667G>A (p.Glu223Lys)	FAM228B, TP53I3 (E223K)	Single nucleotide variant (missense variant +1 more)	TP53I3-related disorder	GLikely benign
Select item 3052130	NM_004881.5(TP53I3):c.666G>A (p.Trp222Ter)	FAM228B, TP53I3 (W222*)	Single nucleotide variant (nonsense +1 more)	TP53I3-related disorder	GLikely benign
Select item 3050861	NM_004881.5(TP53I3):c.603G>A (p.Thr201=)	FAM228B, TP53I3	Single nucleotide variant (synonymous variant +1 more)	TP53I3-related disorder	GBenign
Select item 2520390	NM_004881.5(TP53I3):c.602C>T (p.Thr201Met)	FAM228B, TP53I3 (T201M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3040432	NM_004881.5(TP53I3):c.585G>C (p.Glu195Asp)	FAM228B, TP53I3 (E195D)	Single nucleotide variant (missense variant +1 more)	TP53I3-related disorder	GLikely benign
Select item 3328218	NM_004881.5(TP53I3):c.539T>A (p.Met180Lys)	FAM228B, TP53I3 (M180K)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3328219	NM_004881.5(TP53I3):c.517G>A (p.Gly173Ser)	FAM228B, TP53I3 (G173S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3181434	NM_004881.5(TP53I3):c.485G>T (p.Arg162Leu)	FAM228B, TP53I3 (R162L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3181433	NM_004881.5(TP53I3):c.484C>T (p.Arg162Trp)	FAM228B, TP53I3 (R162W)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3058595	NM_004881.5(TP53I3):c.441T>C (p.His147=)	FAM228B, TP53I3	Single nucleotide variant (synonymous variant +1 more)	TP53I3-related disorder	GLikely benign
Select item 3058570	NM_004881.5(TP53I3):c.337T>C (p.Leu113=)	FAM228B, TP53I3	Single nucleotide variant (synonymous variant +1 more)	TP53I3-related disorder	GLikely benign
Select item 2204509	NM_004881.5(TP53I3):c.313C>G (p.Leu105Val)	FAM228B, TP53I3 (L105V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3041780	NM_004881.5(TP53I3):c.273C>T (p.Pro91=)	FAM228B, TP53I3	Single nucleotide variant (synonymous variant +1 more)	TP53I3-related disorder	GBenign
Select item 3036694	NM_004881.5(TP53I3):c.250G>A (p.Asp84Asn)	FAM228B, TP53I3 (D84N)	Single nucleotide variant (missense variant +1 more)	TP53I3-related disorder	GLikely benign
Select item 3037275	NM_004881.5(TP53I3):c.219G>A (p.Gly73=)	FAM228B, TP53I3	Single nucleotide variant (synonymous variant +1 more)	TP53I3-related disorder	GBenign
Select item 2277542	NM_004881.5(TP53I3):c.187C>T (p.Leu63Phe)	FAM228B, TP53I3 (L63F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2634857	NM_004881.5(TP53I3):c.160C>T (p.Pro54Ser)	FAM228B, TP53I3 (P54S)	Single nucleotide variant (missense variant +1 more)	TP53I3-related disorder	GUncertain significance
Select item 2317654	NM_004881.5(TP53I3):c.140G>T (p.Arg47Ile)	FAM228B, TP53I3 (R47I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3034951	NM_004881.5(TP53I3):c.138+5C>A	TP53I3, FAM228B	Single nucleotide variant (intron variant)	TP53I3-related disorder	GLikely benign
Select item 2393906	NM_004881.5(TP53I3):c.127G>A (p.Asp43Asn)	FAM228B, TP53I3 (D43N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3036962	NM_004881.5(TP53I3):c.75G>C (p.Pro25=)	FAM228B, TP53I3	Single nucleotide variant (synonymous variant +1 more)	TP53I3-related disorder	GLikely benign
Select item 3181435	NM_004881.5(TP53I3):c.67C>T (p.Pro23Ser)	FAM228B, TP53I3 (P23S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181432	NM_004881.5(TP53I3):c.35C>T (p.Pro12Leu)	FAM228B, TP53I3 (P12L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808629	GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3	ABHD1, ADAM17 +177 more	Copy number gain	not provided	GPathogenic
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	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 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 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1153 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130001109, LOC130001110 +1532 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2684546	GRCh37/hg19 8q21.12-22.3(chr8:79046933-102008860)x3	ANKRD46, ATP6V0D2 +96 more	Copy number gain	not provided	GPathogenic
Select item 1808681	GRCh37/hg19 8q21.12-24.11(chr8:79409349-119040631)x3	AARD, ABRA +141 more	Copy number gain	not provided	GPathogenic
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1706511	GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3	AARD, ABRA +285 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	HSF1, HTRA4 +474 more	Copy number gain	not provided	GPathogenic
Select item 443924	GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3	AARD, ABRA +277 more	Copy number gain	See cases	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	AARD, ABRA +593 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	FGF20, FGFR1 +665 more	Copy number gain	See cases	GPathogenic
Select item 441804	GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3	RRM2B, SLC30A8 +160 more	Copy number gain	See cases	GPathogenic
Select item 441594	GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3	SLC45A4, SLC7A13 +189 more	Copy number gain	See cases	GPathogenic

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