114548[geneid] - 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 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	ABCB10, ACBD3 +953 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	LOC129932825, LOC129932826 +952 more	Copy number gain	See cases	GPathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	LOC129932658, LOC129932659 +950 more	Copy number gain	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	LOC126806053, LOC126806054 +870 more	Copy number gain	See cases	GPathogenic
Select item 147487	GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3	ABCB10, ACTA1 +656 more	Copy number gain	See cases	GPathogenic
Select item 148480	GRCh38/hg38 1q43-44(chr1:236556082-248918469)x1	ACTN2, ADSS2 +302 more	Copy number loss	See cases	GPathogenic
Select item 154451	GRCh38/hg38 1q43-44(chr1:237643281-248918469)x1	ADSS2, AHCTF1 +283 more	Copy number loss	See cases	GPathogenic
Select item 151321	GRCh38/hg38 1q43-44(chr1:238033575-248924534)x1	ADSS2, AHCTF1 +280 more	Copy number loss	See cases	GPathogenic
Select item 155307	GRCh38/hg38 1q43-44(chr1:238192880-248930485)x1	ADSS2, AHCTF1 +280 more	Copy number loss	See cases	GPathogenic
Select item 144759	GRCh38/hg38 1q43-44(chr1:238351121-248918469)x1	ADSS2, AHCTF1 +279 more	Copy number loss	See cases	GPathogenic
Select item 145361	GRCh38/hg38 1q43-44(chr1:238753749-248918467)x1	ADSS2, AHCTF1 +278 more	Copy number loss	See cases	GPathogenic
Select item 60149	GRCh38/hg38 1q43-44(chr1:239558430-248918469)x1	LOC132088686, LOC440742 +277 more	Copy number loss	See cases	GPathogenic
Select item 60150	GRCh38/hg38 1q43-44(chr1:239629868-248924593)x1	ADSS2, AHCTF1 +277 more	Copy number loss	See cases	GPathogenic
Select item 2582785	GRCh38/hg38 1q43-44(chr1:239907336-248919110)x1	ADSS2, AHCTF1 +275 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 58142	GRCh38/hg38 1q43-44(chr1:240244444-248891309)x3	KMO, LINC01341 +274 more	Copy number gain	See cases	GPathogenic
Select item 148185	GRCh38/hg38 1q43-44(chr1:240465122-248918469)x1	ADSS2, AHCTF1 +273 more	Copy number loss	See cases	GPathogenic
Select item 60151	GRCh38/hg38 1q43-44(chr1:241047422-248924593)x1	ADSS2, AHCTF1 +265 more	Copy number loss	See cases	GPathogenic
Select item 60152	GRCh38/hg38 1q43-44(chr1:241459440-247704671)x1	ADSS2, AHCTF1 +184 more	Copy number loss	See cases	GPathogenic
Select item 60154	GRCh38/hg38 1q43-44(chr1:241757249-248891309)x1	OR2T34, OR2T35 +254 more	Copy number loss	See cases	GPathogenic
Select item 151131	GRCh38/hg38 1q43-44(chr1:242045279-248930485)x1	ADSS2, AHCTF1 +244 more	Copy number loss	See cases	GPathogenic
Select item 59654	GRCh38/hg38 1q43-44(chr1:242828731-248891309)x3	TFB2M, TRE-CTC2-1 +238 more	Copy number gain	See cases	GPathogenic
Select item 148071	GRCh38/hg38 1q43-44(chr1:242932576-248864636)x4	ADSS2, AHCTF1 +231 more	Copy number gain	See cases	GPathogenic
Select item 2579272	GRCh38/hg38 1q43-44(chr1:243221458-248919110)x1	TRIM58, TRL-CAA4-1 +236 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 60187	GRCh38/hg38 1q44(chr1:243786629-248918469)x1	ADSS2, AHCTF1 +227 more	Copy number loss	See cases	GPathogenic
Select item 146306	GRCh38/hg38 1q44(chr1:244582123-248918469)x1	AHCTF1, C1orf202 +203 more	Copy number loss	See cases	GPathogenic
Select item 144382	GRCh38/hg38 1q44(chr1:245312815-248918469)x3	AHCTF1, CNST +169 more	Copy number gain	See cases	GPathogenic
Select item 148292	GRCh38/hg38 1q44(chr1:247389261-248472496)x3	GCSAML, GCSAML-AS1 +49 more	Copy number gain	See cases	GLikely benign
Select item 154696	GRCh38/hg38 1q44(chr1:247404783-248472496)x3	GCSAML, GCSAML-AS1 +49 more	Copy number gain	See cases	GUncertain significance
Select item 2431177	NM_001243133.2(NLRP3):c.-748-307A>G	NLRP3	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 296923	NM_001243133.2(NLRP3):c.-710C>T	NLRP3	Single nucleotide variant (5 prime UTR variant +1 more)	Chronic infantile neurological, cutaneous and articular syndrome +2 more	GUncertain significance
Select item 876633	NM_001243133.2(NLRP3):c.-686C>T	NLRP3	Single nucleotide variant (5 prime UTR variant +1 more)	Familial cold autoinflammatory syndrome 1 +2 more	GUncertain significance
Select item 296924	NM_001243133.2(NLRP3):c.-685G>A	NLRP3	Single nucleotide variant (5 prime UTR variant +1 more)	Chronic infantile neurological, cutaneous and articular syndrome +2 more	GUncertain significance
Select item 296925	NM_001243133.2(NLRP3):c.-629C>T	NLRP3	Single nucleotide variant (intron variant +1 more)	Chronic infantile neurological, cutaneous and articular syndrome +2 more	GUncertain significance
Select item 296926	NM_001243133.2(NLRP3):c.-561T>G	NLRP3	Single nucleotide variant (5 prime UTR variant)	Chronic infantile neurological, cutaneous and articular syndrome +3 more	GBenign
Select item 296927	NM_001243133.2(NLRP3):c.-543A>T	NLRP3	Single nucleotide variant (5 prime UTR variant)	Chronic infantile neurological, cutaneous and articular syndrome +2 more	GBenign
Select item 296929	NM_001243133.2(NLRP3):c.-533C>T	NLRP3	Single nucleotide variant (5 prime UTR variant)	Chronic infantile neurological, cutaneous and articular syndrome +2 more	GBenign
Select item 296928	NM_001243133.2(NLRP3):c.-533C>G	NLRP3	Single nucleotide variant (5 prime UTR variant)	Chronic infantile neurological, cutaneous and articular syndrome +2 more	GUncertain significance
Select item 874739	NM_001243133.2(NLRP3):c.-523G>A	NLRP3	Single nucleotide variant (5 prime UTR variant)	Chronic infantile neurological, cutaneous and articular syndrome +2 more	GUncertain significance
Select item 296930	NM_001243133.2(NLRP3):c.-482dup	NLRP3	Duplication (5 prime UTR variant +1 more)	Familial cold autoinflammatory syndrome +2 more	GUncertain significance
Select item 103034	NM_001243133.2(NLRP3):c.-460G>A	NLRP3	Single nucleotide variant (5 prime UTR variant +1 more)	Chronic infantile neurological, cutaneous and articular syndrome +2 more	GUncertain significance
Select item 296931	NM_001243133.2(NLRP3):c.-411T>C	NLRP3	Single nucleotide variant (5 prime UTR variant +1 more)	Chronic infantile neurological, cutaneous and articular syndrome +3 more	GBenign
Select item 875680	NM_001243133.2(NLRP3):c.-407C>T	NLRP3	Single nucleotide variant (5 prime UTR variant +1 more)	Chronic infantile neurological, cutaneous and articular syndrome +2 more	GUncertain significance
Select item 876674	NM_001243133.2(NLRP3):c.-369G>A	NLRP3	Single nucleotide variant (5 prime UTR variant +1 more)	Familial amyloid nephropathy with urticaria AND deafness +2 more	GUncertain significance
Select item 876675	NM_001243133.2(NLRP3):c.-339C>T	NLRP3	Single nucleotide variant (5 prime UTR variant +1 more)	Familial amyloid nephropathy with urticaria AND deafness +2 more	GUncertain significance
Select item 296932	NM_001243133.2(NLRP3):c.-231G>A	NLRP3	Single nucleotide variant (5 prime UTR variant +1 more)	Chronic infantile neurological, cutaneous and articular syndrome +3 more	GBenign
Select item 873837	NM_001243133.2(NLRP3):c.-219G>A	NLRP3	Single nucleotide variant (5 prime UTR variant +1 more)	Chronic infantile neurological, cutaneous and articular syndrome +2 more	GUncertain significance
Select item 296933	NM_001243133.2(NLRP3):c.-203G>A	NLRP3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +3 more	GUncertain significance
Select item 2431154	NM_001243133.2(NLRP3):c.-146T>C	NLRP3	Single nucleotide variant (5 prime UTR variant +1 more)	Lung adenocarcinoma	GUncertain significance
Select item 296934	NM_001243133.2(NLRP3):c.-122T>C	NLRP3	Single nucleotide variant (5 prime UTR variant +1 more)	Familial cold autoinflammatory syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 2431153	NM_001243133.2(NLRP3):c.-121T>C	NLRP3	Single nucleotide variant (5 prime UTR variant +1 more)	Lung adenocarcinoma	GUncertain significance
Select item 1222545	NM_001243133.2(NLRP3):c.-79C>T	NLRP3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 296935	NM_001243133.2(NLRP3):c.-74G>A	NLRP3	Single nucleotide variant (5 prime UTR variant +1 more)	Chronic infantile neurological, cutaneous and articular syndrome +2 more	GUncertain significance
Select item 810996	NM_001243133.2(NLRP3):c.-72G>A	NLRP3	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 296936	NM_001243133.2(NLRP3):c.-68C>T	NLRP3	Single nucleotide variant (5 prime UTR variant +1 more)	Chronic infantile neurological, cutaneous and articular syndrome +2 more	GUncertain significance
Select item 296937	NM_001243133.2(NLRP3):c.-40G>T	NLRP3	Single nucleotide variant (5 prime UTR variant)	Chronic infantile neurological, cutaneous and articular syndrome +4 more	GBenign
Select item 1708669	NM_001243133.2(NLRP3):c.10A>G (p.Thr4Ala)	NLRP3 (T4A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1305073	NM_001243133.2(NLRP3):c.13C>T (p.Arg5Cys)	NLRP3 (R5C +1 more)	Single nucleotide variant (missense variant)	Cryopyrin associated periodic syndrome +1 more	GUncertain significance
Select item 2231156	NM_001243133.2(NLRP3):c.14G>A (p.Arg5His)	NLRP3 (R5H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2031284	NM_001243133.2(NLRP3):c.15C>A (p.Arg5=)	NLRP3	Single nucleotide variant (synonymous variant)	Cryopyrin associated periodic syndrome	GLikely benign
Select item 862271	NM_001243133.2(NLRP3):c.18C>T (p.Cys6=)	NLRP3	Single nucleotide variant (synonymous variant)	Cryopyrin associated periodic syndrome	GLikely benign
Select item 2418815	NM_001243133.2(NLRP3):c.27C>T (p.Ala9=)	NLRP3	Single nucleotide variant (synonymous variant)	Cryopyrin associated periodic syndrome	GLikely benign
Select item 296938	NM_001243133.2(NLRP3):c.28A>C (p.Arg10=)	NLRP3	Single nucleotide variant (synonymous variant)	Familial amyloid nephropathy with urticaria AND deafness +2 more	GUncertain significance
Select item 2691257	NM_001243133.2(NLRP3):c.29G>T (p.Arg10Met)	NLRP3 (R10M +1 more)	Single nucleotide variant (missense variant)	Cerebral arteriovenous malformation	GPathogenic
Select item 2134309	NM_001243133.2(NLRP3):c.39G>A (p.Glu13=)	NLRP3	Single nucleotide variant (synonymous variant)	Cryopyrin associated periodic syndrome	GLikely benign
Select item 811400	NM_001243133.2(NLRP3):c.51T>C (p.Asp17=)	NLRP3	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 495298	NM_001243133.2(NLRP3):c.55G>C (p.Asp19His)	NLRP3 (D21H +1 more)	Single nucleotide variant (missense variant)	Keratitis fugax hereditaria	GLikely pathogenic
Select item 453147	NM_001243133.2(NLRP3):c.76C>T (p.His26Tyr)	NLRP3 (H28Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1721170	NM_001243133.2(NLRP3):c.79T>G (p.Leu27Val)	NLRP3 (L27V +1 more)	Single nucleotide variant (missense variant)	Cryopyrin associated periodic syndrome	GUncertain significance
Select item 1303512	NM_001243133.2(NLRP3):c.86A>T (p.Asp29Val)	NLRP3 (D29V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2696987	NM_001243133.2(NLRP3):c.91C>T (p.Pro31Ser)	NLRP3 (P31S +1 more)	Single nucleotide variant (missense variant)	Cryopyrin associated periodic syndrome	GUncertain significance
Select item 1430150	NM_001243133.2(NLRP3):c.92C>T (p.Pro31Leu)	NLRP3 (P31L +1 more)	Single nucleotide variant (missense variant)	Cryopyrin associated periodic syndrome	GUncertain significance
Select item 999770	NM_001243133.2(NLRP3):c.94C>T (p.Pro32Ser)	NLRP3 (P32S +1 more)	Single nucleotide variant (missense variant)	Cryopyrin associated periodic syndrome	GUncertain significance
Select item 1140007	NM_001243133.2(NLRP3):c.102G>A (p.Lys34=)	NLRP3	Single nucleotide variant (synonymous variant)	Cryopyrin associated periodic syndrome	GLikely benign
Select item 2750690	NM_001243133.2(NLRP3):c.104G>T (p.Gly35Val)	NLRP3 (G35V +1 more)	Single nucleotide variant (missense variant)	Cryopyrin associated periodic syndrome	GUncertain significance
Select item 2801907	NM_001243133.2(NLRP3):c.108C>T (p.Cys36=)	NLRP3	Single nucleotide variant (synonymous variant)	Cryopyrin associated periodic syndrome	GLikely benign
Select item 2544215	NM_001243133.2(NLRP3):c.109A>C (p.Ile37Leu)	NLRP3 (I37L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 812073	NM_001243133.2(NLRP3):c.111C>T (p.Ile37=)	NLRP3	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 851331	NM_001243133.2(NLRP3):c.112C>T (p.Pro38Ser)	NLRP3 (P40S +1 more)	Single nucleotide variant (missense variant)	Cryopyrin associated periodic syndrome	GLikely benign
Select item 1714203	NM_001243133.2(NLRP3):c.113C>G (p.Pro38Arg)	NLRP3 (P38R +1 more)	Single nucleotide variant (missense variant)	Cryopyrin associated periodic syndrome	GUncertain significance
Select item 760721	NM_001243133.2(NLRP3):c.114C>T (p.Pro38=)	NLRP3	Single nucleotide variant (synonymous variant)	Cryopyrin associated periodic syndrome	GLikely benign
Select item 1015930	NM_001243133.2(NLRP3):c.118C>T (p.Pro40Ser)	NLRP3 (P40S +1 more)	Single nucleotide variant (missense variant)	Cryopyrin associated periodic syndrome	GUncertain significance
Select item 2060562	NM_001243133.2(NLRP3):c.120G>A (p.Pro40=)	NLRP3	Single nucleotide variant (synonymous variant)	Cryopyrin associated periodic syndrome	GLikely benign
Select item 875720	NM_001243133.2(NLRP3):c.122G>A (p.Arg41Lys)	NLRP3 (R43K +1 more)	Single nucleotide variant (missense variant)	Familial amyloid nephropathy with urticaria AND deafness +5 more	GUncertain significance
Select item 591795	NM_001243133.2(NLRP3):c.127C>T (p.Gln43Ter)	NLRP3 (Q45* +1 more)	Single nucleotide variant (nonsense)	Familial cold autoinflammatory syndrome 1 +4 more	GUncertain significance
Select item 1980301	NM_001243133.2(NLRP3):c.129G>A (p.Gln43=)	NLRP3	Single nucleotide variant (synonymous variant)	Cryopyrin associated periodic syndrome	GLikely benign
Select item 1719696	NM_001243133.2(NLRP3):c.131C>G (p.Thr44Arg)	NLRP3 (T44R +1 more)	Single nucleotide variant (missense variant)	Cryopyrin associated periodic syndrome	GUncertain significance
Select item 1061222	NM_001243133.2(NLRP3):c.139G>T (p.Ala47Ser)	NLRP3 (A47S +1 more)	Single nucleotide variant (missense variant)	Cryopyrin associated periodic syndrome	GUncertain significance
Select item 449689	NM_001243133.2(NLRP3):c.146A>G (p.His49Arg)	NLRP3 (H51R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1107892	NM_001243133.2(NLRP3):c.147T>C (p.His49=)	NLRP3	Single nucleotide variant (synonymous variant)	Cryopyrin associated periodic syndrome +5 more	GLikely benign
Select item 958913	NM_001243133.2(NLRP3):c.154C>G (p.Leu52Val)	NLRP3 (L54V +1 more)	Single nucleotide variant (missense variant)	NLRP3-related disorder +2 more	GUncertain significance
Select item 793925	NM_001243133.2(NLRP3):c.154C>T (p.Leu52=)	NLRP3	Single nucleotide variant (synonymous variant)	Cryopyrin associated periodic syndrome	GLikely benign
Select item 1122128	NM_001243133.2(NLRP3):c.159C>A (p.Ala53=)	NLRP3	Single nucleotide variant (synonymous variant)	Cryopyrin associated periodic syndrome	GLikely benign
Select item 1980929	NM_001243133.2(NLRP3):c.162G>A (p.Thr54=)	NLRP3	Single nucleotide variant (synonymous variant)	Cryopyrin associated periodic syndrome	GLikely benign

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