ClinVar for Gene (Select 375190) - ClinVar

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Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 3328220	NM_004881.5(TP53I3):c.746C>A (p.Pro249His)	FAM228B, TP53I3 (P249H)	Single nucleotide variant (missense variant +1 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 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 3305915	NM_199346.3(PFN4):c.64G>T (p.Ala22Ser)	PFN4, FAM228B (A22S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277408	NM_001145710.2(FAM228B):c.292T>C (p.Ser98Pro)	FAM228B (S98P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277407	NM_001145710.2(FAM228B):c.653G>A (p.Arg218Lys)	FAM228B (R218K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211610	NM_199346.3(PFN4):c.319G>A (p.Gly107Ser)	FAM228B, PFN4 (G107S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3211609	NM_199346.3(PFN4):c.223C>T (p.Arg75Trp)	FAM228B, PFN4 (R75W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211608	NM_199346.3(PFN4):c.114C>A (p.Phe38Leu)	FAM228B, PFN4 (F38L)	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 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 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 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 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	ABHD1, ACP1 +182 more	Copy number gain	See cases	GPathogenic
Select item 3092362	NM_001145710.2(FAM228B):c.43C>A (p.Pro15Thr)	FAM228B (P15T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092361	NM_001145710.2(FAM228B):c.374T>C (p.Ile125Thr)	FAM228B (I125T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092360	NM_001145710.2(FAM228B):c.219G>C (p.Lys73Asn)	FAM228B (K73N)	Single nucleotide variant (missense variant +1 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 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 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 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 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 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 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 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 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 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 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 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 3034951	NM_004881.5(TP53I3):c.138+5C>A	FAM228B, TP53I3	Single nucleotide variant (intron variant)	TP53I3-related disorder	GLikely benign
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 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 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 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 2593913	NM_199346.3(PFN4):c.375A>C (p.Arg125Ser)	FAM228B, PFN4 (R125S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 2513203	NM_001145710.2(FAM228B):c.495T>G (p.Asp165Glu)	FAM228B (D165E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 2348949	NM_001145710.2(FAM228B):c.410A>G (p.Tyr137Cys)	FAM228B (Y137C)	Single nucleotide variant (missense variant +1 more)	not specified	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 2303424	NM_001145710.2(FAM228B):c.317G>A (p.Arg106Lys)	FAM228B (R106K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298398	NM_001145710.2(FAM228B):c.499G>A (p.Glu167Lys)	FAM228B (E167K +1 more)	Single nucleotide variant (missense variant)	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 2277542	NM_004881.5(TP53I3):c.187C>T (p.Leu63Phe)	TP53I3, FAM228B (L63F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272630	NM_199346.3(PFN4):c.268G>A (p.Val90Met)	FAM228B, PFN4 (V90M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220056	NM_001145710.2(FAM228B):c.75G>T (p.Glu25Asp)	FAM228B (E25D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206655	NM_001145710.2(FAM228B):c.667G>A (p.Glu223Lys)	FAM228B (E86K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1808931	GRCh37/hg19 2p24.1-23.3(chr2:23908436-24636185)x3	ATAD2B, FAM228A +10 more	Copy number gain	not provided	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 1686655	GRCh37/hg19 2p24.1-23.3(chr2:22439520-25608211)x1	FAM228A, FAM228B +19 more	Copy number loss	2p24.1p23.3 microdeletion syndrome	GPathogenic
Select item 1184857	NM_001145710.2(FAM228B):c.907del (p.Gln303fs)	FAM228B (Q166fs +1 more)	Deletion (frameshift variant +1 more)	Essential tremor	GUncertain significance
Select item 562668	GRCh37/hg19 2p24.1-23.3(chr2:19905995-24762790)x1	APOB, ATAD2B +22 more	Copy number loss	not provided	GPathogenic
Select item 562654	GRCh37/hg19 2p23.3(chr2:24315204-26384655)x3	DNMT3A, ADCY3 +14 more	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 441048	GRCh37/hg19 2p23.3(chr2:24235780-25700427)x1	CENPO, ADCY3 +16 more	Copy number loss	not provided	Gnot provided
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
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 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 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
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 148077	GRCh38/hg38 2p24.1-23.3(chr2:23789282-24087112)x1	ATAD2B, FAM228B +19 more	Copy number loss	See cases	GUncertain significance
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

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Links from Gene

Items: 77