NLRP13[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	LOC130065082, LOC130065083 +806 more	Copy number gain	See cases	GPathogenic
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	OSCAR, PEG3 +782 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065034, LOC130065035 +761 more	Copy number gain	See cases	GPathogenic
Select item 59127	GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3	A1BG, A1BG-AS1 +647 more	Copy number gain	See cases	GPathogenic
Select item 153721	GRCh38/hg38 19q13.41-13.43(chr19:52143873-58445521)x3	A1BG, A1BG-AS1 +547 more	Copy number gain	See cases	GPathogenic
Select item 144762	GRCh38/hg38 19q13.41-13.43(chr19:52612432-58581203)x3	SSC5D, SYT5 +553 more	Copy number gain	See cases	GPathogenic
Select item 144709	GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3	TMC4, TMEM150B +537 more	Copy number gain	See cases	GPathogenic
Select item 154108	GRCh38/hg38 19q13.42-13.43(chr19:55037146-56982033)x3	BRSK1, C19orf85 +196 more	Copy number gain	See cases	GUncertain significance
Select item 149081	GRCh38/hg38 19q13.42-13.43(chr19:55048514-56972458)x3	BRSK1, C19orf85 +194 more	Copy number gain	See cases	GLikely pathogenic
Select item 145961	GRCh38/hg38 19q13.42-13.43(chr19:55550939-57031576)x1	CCDC106, EDDM13 +106 more	Copy number loss	See cases	GLikely pathogenic
Select item 560140	Single allele	CCDC106, EPN1 +37 more	Deletion	not provided	GUncertain significance
Select item 103316	NM_176810.2(NLRP13):c.3104C>T (p.Ser1035Leu)	NLRP13 (S1035L)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
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 2607707	NM_176810.2(NLRP13):c.3038T>C (p.Leu1013Pro)	NLRP13 (L1013P)	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 103315	NM_176810.2(NLRP13):c.2958G>A (p.Gly986=)	NLRP13	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 3200585	NM_176810.2(NLRP13):c.2902G>A (p.Gly968Arg)	NLRP13 (G968R)	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 3200584	NM_176810.2(NLRP13):c.2849A>G (p.His950Arg)	NLRP13 (H950R)	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 103314	NM_176810.2(NLRP13):c.2650T>A (p.Cys884Ser)	NLRP13 (C884S)	Single nucleotide variant (missense variant)	not provided	Gnot provided
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 2382823	NM_176810.2(NLRP13):c.2620C>T (p.Leu874Phe)	NLRP13 (L874F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 103312	NM_176810.2(NLRP13):c.2619-7C>A	NLRP13	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103310	NM_176810.2(NLRP13):c.2619-11T>A	NLRP13	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103311	NM_176810.2(NLRP13):c.2619-24A>G	NLRP13	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103313	NM_176810.2(NLRP13):c.2619-85C>T	NLRP13	Single nucleotide variant (intron variant)	not provided	Gnot provided
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 2612972	NM_176810.2(NLRP13):c.2504C>T (p.Thr835Ile)	NLRP13 (T835I)	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 3200582	NM_176810.2(NLRP13):c.2462A>G (p.Asn821Ser)	NLRP13 (N821S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3200581	NM_176810.2(NLRP13):c.2399T>C (p.Leu800Pro)	NLRP13 (L800P)	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 3300032	NM_176810.2(NLRP13):c.2291C>T (p.Ser764Leu)	NLRP13 (S764L)	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 103309	NM_176810.2(NLRP13):c.2282+34C>A	NLRP13	Single nucleotide variant (intron variant)	not provided	Gnot provided
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 2328371	NM_176810.2(NLRP13):c.2245G>A (p.Ala749Thr)	NLRP13 (A749T)	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 2496185	NM_176810.2(NLRP13):c.2156G>T (p.Cys719Phe)	NLRP13 (C719F)	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 103307	NM_176810.2(NLRP13):c.2112-208G>A	NLRP13	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103308	NM_176810.2(NLRP13):c.2112-290T>G	NLRP13	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103306	NM_176810.2(NLRP13):c.2111+89G>T	NLRP13	Single nucleotide variant (intron variant)	not provided	Gnot provided
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 103305	NM_176810.2(NLRP13):c.2037G>T (p.Lys679Asn)	NLRP13 (K679N)	Single nucleotide variant (missense variant)	not provided	Gnot provided
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 2492319	NM_176810.2(NLRP13):c.1964T>C (p.Leu655Ser)	NLRP13 (L655S)	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 3300037	NM_176810.2(NLRP13):c.1870G>A (p.Gly624Ser)	NLRP13 (G624S)	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 3300036	NM_176810.2(NLRP13):c.1811T>G (p.Leu604Trp)	NLRP13 (L604W)	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 2274134	NM_176810.2(NLRP13):c.1745C>A (p.Thr582Asn)	NLRP13 (T582N)	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 2265552	NM_176810.2(NLRP13):c.1640C>T (p.Ser547Phe)	NLRP13 (S547F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 786965	NM_176810.2(NLRP13):c.1604C>T (p.Thr535Ile)	NLRP13 (T535I)	Single nucleotide variant (missense variant)	not provided	GBenign
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 103304	NM_176810.2(NLRP13):c.1530G>A (p.Val510=)	NLRP13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2282470	NM_176810.2(NLRP13):c.1457T>C (p.Leu486Pro)	NLRP13 (L486P)	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 2550039	NM_176810.2(NLRP13):c.1397C>G (p.Thr466Arg)	NLRP13 (T466R)	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 2293477	NM_176810.2(NLRP13):c.1259A>C (p.His420Pro)	NLRP13 (H420P)	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 2246650	NM_176810.2(NLRP13):c.1202A>T (p.Asp401Val)	NLRP13 (D401V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2528853	NM_176810.2(NLRP13):c.1102G>A (p.Val368Met)	NLRP13 (V368M)	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 2387050	NM_176810.2(NLRP13):c.1085C>T (p.Thr362Met)	NLRP13 (T362M)	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 3200590	NM_176810.2(NLRP13):c.899T>C (p.Met300Thr)	NLRP13 (M300T)	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 2406787	NM_176810.2(NLRP13):c.857C>T (p.Ser286Phe)	NLRP13 (S286F)	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 2215889	NM_176810.2(NLRP13):c.791A>G (p.Tyr264Cys)	NLRP13 (Y264C)	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 2465479	NM_176810.2(NLRP13):c.728C>A (p.Thr243Asn)	NLRP13 (T243N)	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 2513191	NM_176810.2(NLRP13):c.650G>A (p.Arg217His)	NLRP13 (R217H)	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 2496347	NM_176810.2(NLRP13):c.478T>C (p.Cys160Arg)	NLRP13 (C160R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 103320	NM_176810.2(NLRP13):c.470C>T (p.Ala157Val)	NLRP13 (A157V)	Single nucleotide variant (missense variant)	not provided	Gnot provided
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 103319	NM_176810.2(NLRP13):c.458-188G>A	NLRP13	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103318	NM_176810.2(NLRP13):c.457+143T>G	NLRP13	Single nucleotide variant (intron variant)	not provided	Gnot provided
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 2385487	NM_176810.2(NLRP13):c.374T>C (p.Leu125Pro)	NLRP13 (L125P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2245630	NM_176810.2(NLRP13):c.326T>G (p.Val109Gly)	NLRP13 (V109G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 103317	NM_176810.2(NLRP13):c.319+45C>T	NLRP13	Single nucleotide variant (intron variant)	not provided	Gnot provided
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 3200580	NM_176810.2(NLRP13):c.230C>G (p.Pro77Arg)	NLRP13 (P77R)	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 2242682	NM_176810.2(NLRP13):c.193C>T (p.Pro65Ser)	NLRP13 (P65S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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