NLRP9[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 153813	GRCh38/hg38 19q13.42(chr19:55066790-55789870)x3	NAT14, NLRP11 +124 more	Copy number gain	See cases	GUncertain significance
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 2348971	NM_176820.4(NLRP9):c.2944G>A (p.Glu982Lys)	EPN1, NLRP9 (E982K)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2650541	NM_176820.4(NLRP9):c.2943C>T (p.Asp981=)	EPN1, NLRP9	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3300124	NM_176820.4(NLRP9):c.2844G>C (p.Gly948=)	EPN1, NLRP9	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 132883	NM_176820.4(NLRP9):c.2843+28G>A	NLRP9	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 2530012	NM_176820.4(NLRP9):c.2752C>A (p.Leu918Met)	NLRP9 (L918M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 132882	NM_176820.4(NLRP9):c.2752C>T (p.Leu918=)	NLRP9	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 3300121	NM_176820.4(NLRP9):c.2731G>A (p.Ala911Thr)	NLRP9 (A911T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213711	NM_176820.4(NLRP9):c.2695C>G (p.Arg899Gly)	NLRP9 (R899G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773363	NM_176820.4(NLRP9):c.2695C>T (p.Arg899Cys)	NLRP9 (R899C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2376083	NM_176820.4(NLRP9):c.2687C>T (p.Pro896Leu)	NLRP9 (P896L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 132881	NM_176820.4(NLRP9):c.2672+114C>T	NLRP9	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 774740	NM_176820.4(NLRP9):c.2670C>T (p.Leu890=)	NLRP9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3200743	NM_176820.4(NLRP9):c.2663A>T (p.Glu888Val)	NLRP9 (E888V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373883	NM_176820.4(NLRP9):c.2662G>C (p.Glu888Gln)	NLRP9 (E888Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200742	NM_176820.4(NLRP9):c.2543T>C (p.Ile848Thr)	NLRP9 (I848T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 132880	NM_176820.4(NLRP9):c.2502-40C>G	NLRP9	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 786963	NM_176820.4(NLRP9):c.2465C>T (p.Ala822Val)	NLRP9 (A822V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2525648	NM_176820.4(NLRP9):c.2452T>C (p.Ser818Pro)	NLRP9 (S818P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200741	NM_176820.4(NLRP9):c.2432T>C (p.Leu811Pro)	NLRP9 (L811P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 132879	NM_176820.4(NLRP9):c.2330+743G>T	NLRP9	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 730243	NM_176820.4(NLRP9):c.2320G>A (p.Glu774Lys)	NLRP9 (E774K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2222734	NM_176820.4(NLRP9):c.2209G>T (p.Val737Phe)	NLRP9 (V737F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544989	NM_176820.4(NLRP9):c.2098T>A (p.Ser700Thr)	NLRP9 (S700T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2588187	NM_176820.4(NLRP9):c.2089C>A (p.Leu697Ile)	NLRP9 (L697I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588185	NM_176820.4(NLRP9):c.2088C>A (p.Ser696Arg)	NLRP9 (S696R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200739	NM_176820.4(NLRP9):c.2080G>A (p.Gly694Ser)	NLRP9 (G694S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215985	NM_176820.4(NLRP9):c.2005G>C (p.Val669Leu)	NLRP9 (V669L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300122	NM_176820.4(NLRP9):c.1879A>G (p.Ile627Val)	NLRP9 (I627V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200738	NM_176820.4(NLRP9):c.1876T>A (p.Phe626Ile)	NLRP9 (F626I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200737	NM_176820.4(NLRP9):c.1859G>A (p.Arg620Gln)	NLRP9 (R620Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514404	NM_176820.4(NLRP9):c.1858C>T (p.Arg620Trp)	NLRP9 (R620W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200736	NM_176820.4(NLRP9):c.1849G>A (p.Val617Ile)	NLRP9 (V617I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375552	NM_176820.4(NLRP9):c.1838A>G (p.Asn613Ser)	NLRP9 (N613S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286494	NM_176820.4(NLRP9):c.1789T>G (p.Cys597Gly)	NLRP9 (C597G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200735	NM_176820.4(NLRP9):c.1775C>T (p.Thr592Met)	NLRP9 (T592M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555506	NM_176820.4(NLRP9):c.1775C>G (p.Thr592Arg)	NLRP9 (T592R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780581	NM_176820.4(NLRP9):c.1762T>C (p.Cys588Arg)	NLRP9 (C588R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3200734	NM_176820.4(NLRP9):c.1760A>G (p.His587Arg)	NLRP9 (H587R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200733	NM_176820.4(NLRP9):c.1711T>C (p.Tyr571His)	NLRP9 (Y571H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279135	NM_176820.4(NLRP9):c.1705T>C (p.Phe569Leu)	NLRP9 (F569L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326571	NM_176820.4(NLRP9):c.1676C>T (p.Thr559Ile)	NLRP9 (T559I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200732	NM_176820.4(NLRP9):c.1638C>G (p.Phe546Leu)	NLRP9 (F546L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394924	NM_176820.4(NLRP9):c.1586G>T (p.Ser529Ile)	NLRP9 (S529I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276692	NM_176820.4(NLRP9):c.1525A>C (p.Thr509Pro)	NLRP9 (T509P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407552	NM_176820.4(NLRP9):c.1483A>G (p.Met495Val)	NLRP9 (M495V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3200731	NM_176820.4(NLRP9):c.1408A>T (p.Ile470Phe)	NLRP9 (I470F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355890	NM_176820.4(NLRP9):c.1393G>A (p.Asp465Asn)	NLRP9 (D465N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317449	NM_176820.4(NLRP9):c.1365G>A (p.Met455Ile)	NLRP9 (M455I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786964	NM_176820.4(NLRP9):c.1338G>T (p.Leu446=)	NLRP9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2408899	NM_176820.4(NLRP9):c.1323T>G (p.Phe441Leu)	NLRP9 (F441L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386988	NM_176820.4(NLRP9):c.1297C>T (p.Leu433Phe)	NLRP9 (L433F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545415	NM_176820.4(NLRP9):c.1288G>A (p.Gly430Ser)	NLRP9 (G430S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602316	NM_176820.4(NLRP9):c.1260A>T (p.Leu420Phe)	NLRP9 (L420F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483790	NM_176820.4(NLRP9):c.1250G>A (p.Arg417Lys)	NLRP9 (R417K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 132877	NM_176820.4(NLRP9):c.1218T>C (p.Tyr406=)	NLRP9	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 3200729	NM_176820.4(NLRP9):c.1120A>G (p.Thr374Ala)	NLRP9 (T374A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 132876	NM_176820.4(NLRP9):c.1056G>C (p.Glu352Asp)	NLRP9 (E352D)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 132875	NM_176820.4(NLRP9):c.1022G>T (p.Trp341Leu)	NLRP9 (W341L)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 3200750	NM_176820.4(NLRP9):c.995T>A (p.Ile332Asn)	NLRP9 (I332N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292562	NM_176820.4(NLRP9):c.959T>C (p.Val320Ala)	NLRP9 (V320A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2473808	NM_176820.4(NLRP9):c.902C>T (p.Ser301Phe)	NLRP9 (S301F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300126	NM_176820.4(NLRP9):c.849C>G (p.His283Gln)	NLRP9 (H283Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3238743	NM_176820.4(NLRP9):c.796C>T (p.Leu266Phe)	NLRP9 (L266F)	Single nucleotide variant (missense variant)	Congenital stationary night blindness	GUncertain significance
Select item 2513657	NM_176820.4(NLRP9):c.773G>A (p.Ser258Asn)	NLRP9 (S258N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200749	NM_176820.4(NLRP9):c.734A>G (p.Asp245Gly)	NLRP9 (D245G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200748	NM_176820.4(NLRP9):c.719A>G (p.Lys240Arg)	NLRP9 (K240R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200747	NM_176820.4(NLRP9):c.675C>G (p.Phe225Leu)	NLRP9 (F225L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612319	NM_176820.4(NLRP9):c.640G>A (p.Glu214Lys)	NLRP9 (E214K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300125	NM_176820.4(NLRP9):c.578T>C (p.Ile193Thr)	NLRP9 (I193T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300123	NM_176820.4(NLRP9):c.507G>T (p.Trp169Cys)	NLRP9 (W169C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608289	NM_176820.4(NLRP9):c.434G>A (p.Arg145Gln)	NLRP9 (R145Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200746	NM_176820.4(NLRP9):c.430A>G (p.Arg144Gly)	NLRP9 (R144G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3200745	NM_176820.4(NLRP9):c.418A>G (p.Thr140Ala)	NLRP9 (T140A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 775431	NM_176820.4(NLRP9):c.414A>G (p.Ala138=)	NLRP9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3200744	NM_176820.4(NLRP9):c.401A>G (p.Glu134Gly)	NLRP9 (E134G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325399	NM_176820.4(NLRP9):c.364C>T (p.His122Tyr)	NLRP9 (H122Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773364	NM_176820.4(NLRP9):c.360T>C (p.Pro120=)	NLRP9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3200740	NM_176820.4(NLRP9):c.221A>G (p.Asn74Ser)	NLRP9 (N74S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 780582	NM_176820.4(NLRP9):c.162T>C (p.Asp54=)	NLRP9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3200730	NM_176820.4(NLRP9):c.137A>T (p.Glu46Val)	NLRP9 (E46V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599307	NM_176820.4(NLRP9):c.111T>G (p.Phe37Leu)	NLRP9 (F37L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2542161	NM_176820.4(NLRP9):c.88C>T (p.Leu30Phe)	NLRP9 (L30F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 728585	NM_176820.4(NLRP9):c.19dup (p.Ser7fs)	NLRP9 (S7fs)	Duplication (frameshift variant)	not provided	GLikely benign
Select item 132878	NM_176820.4(NLRP9):c.20C>T (p.Ser7Leu)	NLRP9 (S7L)	Single nucleotide variant (missense variant)	not provided	Gnot provided
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

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