ClinVar for Gene (Select 126204) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3300039	NM_176810.2(NLRP13):c.2918G>A (p.Cys973Tyr)	NLRP13 (C973Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300038	NM_176810.2(NLRP13):c.26C>T (p.Pro9Leu)	NLRP13 (P9L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300037	NM_176810.2(NLRP13):c.1870G>A (p.Gly624Ser)	NLRP13 (G624S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300036	NM_176810.2(NLRP13):c.1811T>G (p.Leu604Trp)	NLRP13 (L604W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300035	NM_176810.2(NLRP13):c.2146A>G (p.Asn716Asp)	NLRP13 (N716D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300033	NM_176810.2(NLRP13):c.1970G>A (p.Arg657His)	NLRP13 (R657H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3300032	NM_176810.2(NLRP13):c.2291C>T (p.Ser764Leu)	NLRP13 (S764L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200590	NM_176810.2(NLRP13):c.899T>C (p.Met300Thr)	NLRP13 (M300T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200589	NM_176810.2(NLRP13):c.793G>A (p.Val265Ile)	NLRP13 (V265I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200588	NM_176810.2(NLRP13):c.716T>C (p.Val239Ala)	NLRP13 (V239A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200586	NM_176810.2(NLRP13):c.397C>G (p.Gln133Glu)	NLRP13 (Q133E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200585	NM_176810.2(NLRP13):c.2902G>A (p.Gly968Arg)	NLRP13 (G968R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200584	NM_176810.2(NLRP13):c.2849A>G (p.His950Arg)	NLRP13 (H950R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200583	NM_176810.2(NLRP13):c.2543A>G (p.Asn848Ser)	NLRP13 (N848S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200582	NM_176810.2(NLRP13):c.2462A>G (p.Asn821Ser)	NLRP13 (N821S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3200581	NM_176810.2(NLRP13):c.2399T>C (p.Leu800Pro)	NLRP13 (L800P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200580	NM_176810.2(NLRP13):c.230C>G (p.Pro77Arg)	NLRP13 (P77R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200579	NM_176810.2(NLRP13):c.2185C>T (p.His729Tyr)	NLRP13 (H729Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200578	NM_176810.2(NLRP13):c.2065C>T (p.Leu689Phe)	NLRP13 (L689F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200577	NM_176810.2(NLRP13):c.1942G>C (p.Glu648Gln)	NLRP13 (E648Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200576	NM_176810.2(NLRP13):c.1757T>C (p.Leu586Pro)	NLRP13 (L586P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200575	NM_176810.2(NLRP13):c.1481T>C (p.Met494Thr)	NLRP13 (M494T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200574	NM_176810.2(NLRP13):c.1313C>A (p.Pro438Gln)	NLRP13 (P438Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3200573	NM_176810.2(NLRP13):c.1174C>T (p.Arg392Trp)	NLRP13 (R392W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3200572	NM_176810.2(NLRP13):c.112C>A (p.Pro38Thr)	NLRP13 (P38T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062375	GRCh37/hg19 19q13.42-13.43(chr19:56080158-57672397)x1	CCDC106, DUXA +36 more	Copy number loss	not specified	GUncertain significance
Select item 2684892	GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	ACP4, ADM5 +261 more	Copy number gain	not provided	GLikely pathogenic
Select item 2615736	NM_176810.2(NLRP13):c.2246C>G (p.Ala749Gly)	NLRP13 (A749G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613439	NM_176810.2(NLRP13):c.2285G>A (p.Cys762Tyr)	NLRP13 (C762Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612972	NM_176810.2(NLRP13):c.2504C>T (p.Thr835Ile)	NLRP13 (T835I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607707	NM_176810.2(NLRP13):c.3038T>C (p.Leu1013Pro)	NLRP13 (L1013P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595114	NM_176810.2(NLRP13):c.964C>T (p.Arg322Cys)	NLRP13 (R322C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588080	NM_176810.2(NLRP13):c.2468C>T (p.Ser823Leu)	NLRP13 (S823L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550039	NM_176810.2(NLRP13):c.1397C>G (p.Thr466Arg)	NLRP13 (T466R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545820	NM_176810.2(NLRP13):c.1839G>A (p.Met613Ile)	NLRP13 (M613I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543169	NM_176810.2(NLRP13):c.362A>G (p.Asp121Gly)	NLRP13 (D121G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528853	NM_176810.2(NLRP13):c.1102G>A (p.Val368Met)	NLRP13 (V368M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523355	NM_176810.2(NLRP13):c.2335C>A (p.Gln779Lys)	NLRP13 (Q779K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521477	NM_176810.2(NLRP13):c.1420G>A (p.Asp474Asn)	NLRP13 (D474N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515157	NM_176810.2(NLRP13):c.137C>T (p.Ser46Leu)	NLRP13 (S46L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513191	NM_176810.2(NLRP13):c.650G>A (p.Arg217His)	NLRP13 (R217H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496347	NM_176810.2(NLRP13):c.478T>C (p.Cys160Arg)	NLRP13 (C160R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496185	NM_176810.2(NLRP13):c.2156G>T (p.Cys719Phe)	NLRP13 (C719F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492319	NM_176810.2(NLRP13):c.1964T>C (p.Leu655Ser)	NLRP13 (L655S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481717	NM_176810.2(NLRP13):c.2813G>C (p.Arg938Thr)	NLRP13 (R938T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468163	NM_176810.2(NLRP13):c.1246G>A (p.Glu416Lys)	NLRP13 (E416K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465479	NM_176810.2(NLRP13):c.728C>A (p.Thr243Asn)	NLRP13 (T243N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456629	NM_176810.2(NLRP13):c.1557C>G (p.Phe519Leu)	NLRP13 (F519L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2455702	NM_176810.2(NLRP13):c.2647G>A (p.Ala883Thr)	NLRP13 (A883T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455490	NM_176810.2(NLRP13):c.1717G>A (p.Val573Ile)	NLRP13 (V573I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412522	NM_176810.2(NLRP13):c.96C>A (p.Phe32Leu)	NLRP13 (F32L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406787	NM_176810.2(NLRP13):c.857C>T (p.Ser286Phe)	NLRP13 (S286F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387050	NM_176810.2(NLRP13):c.1085C>T (p.Thr362Met)	NLRP13 (T362M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385487	NM_176810.2(NLRP13):c.374T>C (p.Leu125Pro)	NLRP13 (L125P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2384130	NM_176810.2(NLRP13):c.157C>A (p.Pro53Thr)	NLRP13 (P53T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382823	NM_176810.2(NLRP13):c.2620C>T (p.Leu874Phe)	NLRP13 (L874F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381422	NM_176810.2(NLRP13):c.211C>A (p.Leu71Ile)	NLRP13 (L71I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376573	NM_176810.2(NLRP13):c.460A>C (p.Asn154His)	NLRP13 (N154H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375687	NM_176810.2(NLRP13):c.2901T>A (p.Asp967Glu)	NLRP13 (D967E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369964	NM_176810.2(NLRP13):c.1094C>A (p.Thr365Asn)	NLRP13 (T365N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328371	NM_176810.2(NLRP13):c.2245G>A (p.Ala749Thr)	NLRP13 (A749T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313164	NM_176810.2(NLRP13):c.587G>A (p.Ser196Asn)	NLRP13 (S196N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298573	NM_176810.2(NLRP13):c.3043C>A (p.Leu1015Ile)	NLRP13 (L1015I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293477	NM_176810.2(NLRP13):c.1259A>C (p.His420Pro)	NLRP13 (H420P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282470	NM_176810.2(NLRP13):c.1457T>C (p.Leu486Pro)	NLRP13 (L486P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274134	NM_176810.2(NLRP13):c.1745C>A (p.Thr582Asn)	NLRP13 (T582N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265552	NM_176810.2(NLRP13):c.1640C>T (p.Ser547Phe)	NLRP13 (S547F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2248731	NM_176810.2(NLRP13):c.29A>G (p.Asn10Ser)	NLRP13 (N10S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246650	NM_176810.2(NLRP13):c.1202A>T (p.Asp401Val)	NLRP13 (D401V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245630	NM_176810.2(NLRP13):c.326T>G (p.Val109Gly)	NLRP13 (V109G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245296	NM_176810.2(NLRP13):c.860T>G (p.Leu287Trp)	NLRP13 (L287W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242682	NM_176810.2(NLRP13):c.193C>T (p.Pro65Ser)	NLRP13 (P65S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239452	NM_176810.2(NLRP13):c.788C>T (p.Ser263Phe)	NLRP13 (S263F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230430	NM_176810.2(NLRP13):c.247A>C (p.Lys83Gln)	NLRP13 (K83Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222221	NM_176810.2(NLRP13):c.2433C>A (p.Asn811Lys)	NLRP13 (N811K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220381	NM_176810.2(NLRP13):c.2963C>T (p.Ala988Val)	NLRP13 (A988V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215889	NM_176810.2(NLRP13):c.791A>G (p.Tyr264Cys)	NLRP13 (Y264C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808053	GRCh37/hg19 19q13.43(chr19:56332374-56796637)x3	GALP, NLRP11 +8 more	Copy number gain	not provided	GUncertain significance
Select item 1526672	GRCh37/hg19 19q13.43(chr19:56332200-57126728)	GALP, NLRP11 +15 more	Copy number gain	not specified	GUncertain significance
Select item 1341981	GRCh37/hg19 19q13.42-13.43(chr19:55434660-56463734)x1	CCDC106, COX6B2 +45 more	Copy number loss	not provided	GUncertain significance
Select item 1341017	GRCh37/hg19 19q13.42-13.43(chr19:55247893-56503347)x1	BRSK1, CCDC106 +54 more	Copy number loss	not provided	GLikely pathogenic
Select item 980776	GRCh37/hg19 19q13.43(chr19:56358060-57007128)x3	GALP, NLRP13 +10 more	Copy number gain	not provided	GUncertain significance
Select item 980774	GRCh37/hg19 19q13.43(chr19:56421745-56490943)x1	NLRP13, NLRP8	Copy number loss	not provided	GLikely benign
Select item 980772	GRCh37/hg19 19q13.42-13.43(chr19:54334195-56434037)x3	TMC4, TMEM150B +87 more	Copy number gain	not provided	GUncertain significance
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	PPP1R15A, PPP2R1A +308 more	Copy number gain	not provided	GPathogenic
Select item 816095	GRCh37/hg19 19q13.43(chr19:56375683-56985884)x3	ZSCAN5B, GALP +10 more	Copy number gain	not provided	GUncertain significance
Select item 786965	NM_176810.2(NLRP13):c.1604C>T (p.Thr535Ile)	NLRP13 (T535I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 564606	GRCh37/hg19 19q13.42-13.43(chr19:54196216-58759679)x3	ZNF548, ZNF549 +157 more	Copy number gain	not provided	GPathogenic
Select item 564600	GRCh37/hg19 19q13.42-13.43(chr19:55779884-56896574)x1	KMT5C, NLRP8 +39 more	Copy number loss	not provided	GUncertain significance
Select item 560140	Single allele	CCDC106, EPN1 +37 more	Deletion	not provided	GUncertain significance
Select item 443658	GRCh37/hg19 19q13.42-13.43(chr19:55844155-57408007)x3	CCDC106, COX6B2 +47 more	Copy number gain	See cases	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443202	GRCh37/hg19 19q13.42-13.43(chr19:55549385-57489784)x3	BRSK1, CCDC106 +61 more	Copy number gain	See cases	GUncertain significance
Select item 442366	GRCh37/hg19 19q13.42-13.43(chr19:56212463-57191708)x3	GALP, NLRP11 +21 more	Copy number gain	See cases	GUncertain significance
Select item 394342	GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3	A1BG, ACP4 +280 more	Copy number gain	See cases	GPathogenic
Select item 221405	GRCh37/hg19 19q13.42-13.43(chr19:56200298-57654005)x1	NLRP5, NLRP8 +26 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221354	chr19:56133299..57648277 complex variant	NLRP4, CCDC106 +31 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 207900	NM_176810.2(NLRP13):c.190G>A (p.Asp64Asn)	NLRP13 (D64N)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely benign
Select item 154108	GRCh38/hg38 19q13.42-13.43(chr19:55037146-56982033)x3	BRSK1, C19orf85 +196 more	Copy number gain	See cases	GUncertain significance

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