NLRP5[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 102985	NM_153447.4(NLRP5):c.-405T>A	NLRP5	Single nucleotide variant	not provided	Gnot provided
Select item 102986	NM_153447.4(NLRP5):c.-397C>T	NLRP5	Single nucleotide variant	not provided	Gnot provided
Select item 102987	NM_153447.4(NLRP5):c.-250C>T	NLRP5	Single nucleotide variant	not provided	Gnot provided
Select item 102988	NM_153447.4(NLRP5):c.-91G>A	NLRP5	Single nucleotide variant	not provided	Gnot provided
Select item 102989	NM_153447.4(NLRP5):c.-57G>A	NLRP5	Single nucleotide variant	not provided	Gnot provided
Select item 3059065	NC_000019.10:g.55999716C>G	NLRP5	Single nucleotide variant	NLRP5-related disorder	GBenign
Select item 102990	NM_153447.4(NLRP5):c.-9G>A	NLRP5	Single nucleotide variant	not provided	Gnot provided
Select item 3059572	NC_000019.10:g.55999724T>C	NLRP5	Single nucleotide variant	NLRP5-related disorder	GBenign
Select item 745795	NM_153447.4(NLRP5):c.54A>C (p.Ser18=)	NLRP5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650549	NM_153447.4(NLRP5):c.62C>T (p.Ala21Val)	NLRP5 (A21V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 103296	NM_153447.4(NLRP5):c.62+1G>A	NLRP5	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2344778	NM_153447.4(NLRP5):c.71C>T (p.Thr24Ile)	NLRP5 (T24I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408470	NM_153447.4(NLRP5):c.119T>C (p.Phe40Ser)	NLRP5 (F40S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200656	NM_153447.4(NLRP5):c.190G>T (p.Gly64Trp)	NLRP5 (G64W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200655	NM_153447.4(NLRP5):c.190G>A (p.Gly64Arg)	NLRP5 (G64R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524378	NM_153447.4(NLRP5):c.201G>T (p.Trp67Cys)	NLRP5 (W67C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398057	NM_153447.4(NLRP5):c.249A>T (p.Leu83Phe)	NLRP5 (L83F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2499459	NM_153447.4(NLRP5):c.292C>T (p.Gln98Ter)	NLRP5	Single nucleotide variant (nonsense)	Oocyte/zygote/embryo maturation arrest 19	GPathogenic
Select item 2387122	NM_153447.4(NLRP5):c.293A>G (p.Gln98Arg)	NLRP5 (Q98R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1175952	NM_153447.4(NLRP5):c.300A>C (p.Glu100Asp)	NLRP5 (E100D)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 792374	NM_153447.4(NLRP5):c.303C>T (p.Ile101=)	NLRP5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3200666	NM_153447.4(NLRP5):c.305A>G (p.Glu102Gly)	NLRP5 (E102G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056195	NM_153447.4(NLRP5):c.312C>T (p.Ala104=)	NLRP5	Single nucleotide variant (synonymous variant)	NLRP5-related disorder	GBenign
Select item 3059251	NM_153447.4(NLRP5):c.315C>T (p.Asn105=)	NLRP5	Single nucleotide variant (synonymous variant)	NLRP5-related disorder	GBenign
Select item 3200668	NM_153447.4(NLRP5):c.316G>A (p.Val106Met)	NLRP5 (V106M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205658	NM_153447.4(NLRP5):c.340C>A (p.His114Asn)	NLRP5 (H114N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 722712	NM_153447.4(NLRP5):c.375G>A (p.Thr125=)	NLRP5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 718760	NM_153447.4(NLRP5):c.407G>A (p.Arg136Gln)	NLRP5 (R136Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 788317	NM_153447.4(NLRP5):c.419A>G (p.Glu140Gly)	NLRP5 (E140G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3200673	NM_153447.4(NLRP5):c.438G>T (p.Met146Ile)	NLRP5 (M146I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713663	NM_153447.4(NLRP5):c.442+6C>T	NLRP5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 761666	NM_153447.4(NLRP5):c.442+7G>A	NLRP5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 103293	NM_153447.4(NLRP5):c.443-72C>T	NLRP5	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 3059791	NM_153447.4(NLRP5):c.443-4C>G	NLRP5	Single nucleotide variant (intron variant)	NLRP5-related disorder	GBenign
Select item 2292339	NM_153447.4(NLRP5):c.446A>C (p.His149Pro)	NLRP5 (H149P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2069859	NM_153447.4(NLRP5):c.463G>T (p.Glu155Ter)	NLRP5 (E155*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3200674	NM_153447.4(NLRP5):c.523G>A (p.Val175Met)	NLRP5 (V175M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300072	NM_153447.4(NLRP5):c.527A>T (p.Gln176Leu)	NLRP5 (Q176L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1298787	NM_153447.4(NLRP5):c.565+3G>A	NLRP5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 103295	NM_153447.4(NLRP5):c.565+81G>A	NLRP5	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103294	NM_153447.4(NLRP5):c.565+114G>T	NLRP5	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 3200675	NM_153447.4(NLRP5):c.599C>T (p.Thr200Ile)	NLRP5 (T200I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300074	NM_153447.4(NLRP5):c.619C>A (p.Gln207Lys)	NLRP5 (Q207K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 103297	NM_153447.4(NLRP5):c.622+253G>A	NLRP5	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103298	NM_153447.4(NLRP5):c.622+266C>A	NLRP5	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103299	NM_153447.4(NLRP5):c.622+403G>C	NLRP5	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103300	NM_153447.4(NLRP5):c.623-87A>G	NLRP5	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 2556090	NM_153447.4(NLRP5):c.637A>G (p.Met213Val)	NLRP5 (M213V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373002	NM_153447.4(NLRP5):c.668C>T (p.Thr223Ile)	NLRP5 (T223I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 103301	NM_153447.4(NLRP5):c.679+313G>T	NLRP5	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103302	NM_153447.4(NLRP5):c.679+340T>C	NLRP5	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 3200677	NM_153447.4(NLRP5):c.725A>G (p.Lys242Arg)	LOC126862935, NLRP5 (K242R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2043547	NM_153447.4(NLRP5):c.764A>G (p.Asn255Ser)	LOC126862935, NLRP5 (N255S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 710282	NM_153447.4(NLRP5):c.771T>C (p.Ala257=)	LOC126862935, NLRP5	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2263094	NM_153447.4(NLRP5):c.782C>G (p.Pro261Arg)	LOC126862935, NLRP5 (P261R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 103303	NM_153447.4(NLRP5):c.790C>G (p.Gln264Glu)	NLRP5, LOC126862935 (Q264E)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 758135	NM_153447.4(NLRP5):c.804T>C (p.Gly268=)	LOC126862935, NLRP5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3200678	NM_153447.4(NLRP5):c.815C>T (p.Ser272Leu)	LOC126862935, NLRP5 (S272L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048097	NM_153447.4(NLRP5):c.816A>C (p.Ser272=)	LOC126862935, NLRP5	Single nucleotide variant (synonymous variant)	NLRP5-related disorder	GBenign
Select item 3042272	NM_153447.4(NLRP5):c.839G>A (p.Arg280His)	LOC126862935, NLRP5 (R280H)	Single nucleotide variant (missense variant)	NLRP5-related disorder	GBenign
Select item 786437	NM_153447.4(NLRP5):c.842C>T (p.Thr281Met)	LOC126862935, NLRP5 (T281M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 778871	NM_153447.4(NLRP5):c.843G>A (p.Thr281=)	LOC126862935, NLRP5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2499461	NM_153447.4(NLRP5):c.866G>A (p.Gly289Glu)	LOC126862935, NLRP5	Single nucleotide variant (missense variant)	Oocyte/zygote/embryo maturation arrest 19	GPathogenic
Select item 783075	NM_153447.4(NLRP5):c.868A>G (p.Ile290Val)	LOC126862935, NLRP5 (I290V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 734648	NM_153447.4(NLRP5):c.897C>T (p.Ile299=)	LOC126862935, NLRP5	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2283074	NM_153447.4(NLRP5):c.898G>A (p.Val300Met)	LOC126862935, NLRP5 (V300M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731852	NM_153447.4(NLRP5):c.914A>G (p.Gln305Arg)	LOC126862935, NLRP5 (Q305R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2650550	NM_153447.4(NLRP5):c.933A>G (p.Gly311=)	LOC126862935, NLRP5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1130480	NM_153447.4(NLRP5):c.946G>A (p.Val316Ile)	LOC126862935, NLRP5 (V316I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2279059	NM_153447.4(NLRP5):c.950T>C (p.Phe317Ser)	LOC126862935, NLRP5 (F317S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1697239	NM_153447.4(NLRP5):c.971T>A (p.Met324Lys)	LOC126862935, NLRP5 (M324K)	Single nucleotide variant (missense variant)	Inherited oocyte maturation defect	GUncertain significance
Select item 2354665	NM_153447.4(NLRP5):c.977G>A (p.Arg326Gln)	LOC126862935, NLRP5 (R326Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3200679	NM_153447.4(NLRP5):c.985G>A (p.Glu329Lys)	LOC126862935, NLRP5 (E329K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650551	NM_153447.4(NLRP5):c.992G>T (p.Ser331Ile)	LOC126862935, NLRP5 (S331I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2339368	NM_153447.4(NLRP5):c.992G>C (p.Ser331Thr)	LOC126862935, NLRP5 (S331T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067909	NM_153447.4(NLRP5):c.998_999del (p.Thr333fs)	LOC126862935, NLRP5 (T333fs)	Microsatellite (frameshift variant)	Oocyte/zygote/embryo maturation arrest 19	GUncertain significance
Select item 788337	NM_153447.4(NLRP5):c.1035T>C (p.Ala345=)	LOC126862935, NLRP5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3200652	NM_153447.4(NLRP5):c.1043C>T (p.Thr348Met)	LOC126862935, NLRP5 (T348M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466412	NM_153447.4(NLRP5):c.1051A>G (p.Met351Val)	LOC126862935, NLRP5 (M351V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718965	NM_153447.4(NLRP5):c.1058G>A (p.Arg353Gln)	LOC126862935, NLRP5 (R353Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 713924	NM_153447.4(NLRP5):c.1066A>G (p.Arg356Gly)	LOC126862935, NLRP5 (R356G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 103278	NM_153447.4(NLRP5):c.1072T>C (p.Leu358=)	LOC126862935, NLRP5	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3052311	NM_153447.4(NLRP5):c.1111C>T (p.Leu371Phe)	LOC126862935, NLRP5 (L371F)	Single nucleotide variant (missense variant)	NLRP5-related disorder	GLikely benign
Select item 2338154	NM_153447.4(NLRP5):c.1175G>A (p.Arg392His)	LOC126862935, NLRP5 (R392H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1697244	NM_153447.4(NLRP5):c.1202C>T (p.Pro401Leu)	LOC126862935, NLRP5 (P401L)	Single nucleotide variant (missense variant)	Inherited oocyte maturation defect	GUncertain significance
Select item 3059594	NM_153447.4(NLRP5):c.1233C>T (p.Asp411=)	LOC126862935, NLRP5	Single nucleotide variant (synonymous variant)	NLRP5-related disorder	GBenign
Select item 2082543	NM_153447.4(NLRP5):c.1259_1260del (p.Glu420fs)	LOC126862935, NLRP5 (E420fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2387638	NM_153447.4(NLRP5):c.1273C>T (p.Arg425Cys)	LOC126862935, NLRP5 (R425C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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