NLRP7[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 127251	NM_001127255.1(NLRP7):c.*374G>A	NCR1, NLRP7	Single nucleotide variant	not provided	Gnot provided
Select item 330152	NM_206828.4(NLRP7):c.*183G>A	NCR1, NLRP7	Single nucleotide variant	Hydatidiform mole, recurrent, 1	GUncertain significance
Select item 330153	NM_206828.4(NLRP7):c.*180G>C	NCR1, NLRP7	Single nucleotide variant	Hydatidiform mole, recurrent, 1 +1 more	GLikely benign
Select item 892762	NM_206828.4(NLRP7):c.*44G>A	NCR1, NLRP7	Single nucleotide variant	Hydatidiform mole, recurrent, 1	GUncertain significance
Select item 893568	NM_206828.4(NLRP7):c.*20C>T	NCR1, NLRP7	Single nucleotide variant	Hydatidiform mole, recurrent, 1	GUncertain significance
Select item 330154	NM_206828.4(NLRP7):c.*5C>T	NCR1, NLRP7	Single nucleotide variant	Hydatidiform mole, recurrent, 1	GUncertain significance
Select item 330155	NM_001127255.2(NLRP7):c.3083C>T (p.Thr1028Met)	NCR1, NLRP7 (T971M +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 893569	NM_001127255.2(NLRP7):c.3082A>G (p.Thr1028Ala)	NCR1, NLRP7 (T1000A +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 893570	NM_001127255.2(NLRP7):c.3076G>A (p.Gly1026Arg)	NCR1, NLRP7 (G998R +2 more)	Single nucleotide variant (missense variant)	Hydatidiform mole, recurrent, 1	GUncertain significance
Select item 2650496	NM_001127255.2(NLRP7):c.3069T>C (p.Asn1023=)	NCR1, NLRP7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 893571	NM_001127255.2(NLRP7):c.3068A>G (p.Asn1023Ser)	NCR1, NLRP7 (N966S +2 more)	Single nucleotide variant (missense variant)	Hydatidiform mole, recurrent, 1	GUncertain significance
Select item 893572	NM_001127255.2(NLRP7):c.3031G>C (p.Val1011Leu)	NCR1, NLRP7 (V1011L +2 more)	Single nucleotide variant (missense variant)	Hydatidiform mole, recurrent, 1	GUncertain significance
Select item 2397043	NM_001127255.2(NLRP7):c.3030A>C (p.Glu1010Asp)	NCR1, NLRP7 (E1010D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3200702	NM_001127255.2(NLRP7):c.3018G>C (p.Lys1006Asn)	NCR1, NLRP7 (K1006N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211470	NM_001127255.2(NLRP7):c.2995G>A (p.Glu999Lys)	NCR1, NLRP7 (E971K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 997712	NM_001127255.2(NLRP7):c.2982-28del	NCR1, NLRP7	Deletion (intron variant)	Hydatidiform mole	GLikely benign
Select item 97793	NM_001127255.2(NLRP7):c.2981+142C>A	NCR1, NLRP7	Single nucleotide variant (intron variant)	Hydatidiform mole, recurrent, 1	Gnot provided
Select item 97792	NM_001127255.2(NLRP7):c.2981+123T>C	NCR1, NLRP7	Single nucleotide variant (intron variant)	Hydatidiform mole, recurrent, 1	Gnot provided
Select item 97795	NM_001127255.2(NLRP7):c.2981+33T>G	NCR1, NLRP7	Single nucleotide variant (intron variant)	Hydatidiform mole, recurrent, 1	Gnot provided
Select item 97794	NM_001127255.2(NLRP7):c.2981+29_2981+32del	NCR1, NLRP7	Deletion (intron variant)	Hydatidiform mole, recurrent, 1	Gnot provided
Select item 3025641	NM_001127255.2(NLRP7):c.2937C>T (p.Leu979=)	NCR1, NLRP7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 97790	NM_001127255.2(NLRP7):c.2891T>C (p.Leu964Pro)	NCR1, NLRP7 (L964P +1 more)	Single nucleotide variant (missense variant +1 more)	Hydatidiform mole, recurrent, 1	Gnot provided
Select item 997711	NM_001127255.2(NLRP7):c.2811-23A>G	NCR1, NLRP7	Single nucleotide variant (intron variant)	Hydatidiform mole +1 more	GBenign
Select item 97770	NM_001127255.2(NLRP7):c.2811-25G>C	NCR1, NLRP7	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 97901	NM_001127255.2(NLRP7):c.2811-28C>T	NCR1, NLRP7	Single nucleotide variant (intron variant)	Hydatidiform mole, recurrent, 1	Gnot provided
Select item 97780	NM_001127255.2(NLRP7):c.2811-34T>G	NCR1, NLRP7	Single nucleotide variant (intron variant)	Hydatidiform mole, recurrent, 1	Gnot provided
Select item 97781	NM_001127255.2(NLRP7):c.2811-37C>T	NCR1, NLRP7	Single nucleotide variant (intron variant)	Hydatidiform mole, recurrent, 1	Gnot provided
Select item 97775	NM_001127255.2(NLRP7):c.2811-135C>T	NCR1, NLRP7	Single nucleotide variant (intron variant)	Hydatidiform mole, recurrent, 1	Gnot provided
Select item 97776	NM_001127255.2(NLRP7):c.2811-178G>A	NCR1, NLRP7	Single nucleotide variant (intron variant)	Hydatidiform mole, recurrent, 1	Gnot provided
Select item 97777	NM_001127255.2(NLRP7):c.2811-228T>C	NCR1, NLRP7	Single nucleotide variant (intron variant)	Hydatidiform mole, recurrent, 1	Gnot provided
Select item 97778	NM_001127255.2(NLRP7):c.2811-312C>A	NCR1, NLRP7	Single nucleotide variant (intron variant)	Hydatidiform mole, recurrent, 1	Gnot provided
Select item 97779	NM_001127255.2(NLRP7):c.2811-329A>G	NCR1, NLRP7	Single nucleotide variant (intron variant)	Hydatidiform mole, recurrent, 1	Gnot provided
Select item 97782	NM_001127255.2(NLRP7):c.2811-394G>T	NCR1, NLRP7	Single nucleotide variant (intron variant)	Hydatidiform mole, recurrent, 1	Gnot provided
Select item 97783	NM_001127255.2(NLRP7):c.2811-399A>G	NCR1, NLRP7	Single nucleotide variant (intron variant)	Hydatidiform mole, recurrent, 1	Gnot provided
Select item 97784	NM_001127255.2(NLRP7):c.2811-402C>T	NCR1, NLRP7	Single nucleotide variant (intron variant)	Hydatidiform mole, recurrent, 1	Gnot provided
Select item 97785	NM_001127255.2(NLRP7):c.2811-496T>C	NCR1, NLRP7	Single nucleotide variant (intron variant)	Hydatidiform mole, recurrent, 1	Gnot provided
Select item 97786	NM_001127255.2(NLRP7):c.2811-523C>T	NCR1, NLRP7	Single nucleotide variant (intron variant)	Hydatidiform mole, recurrent, 1	Gnot provided
Select item 97787	NM_001127255.2(NLRP7):c.2811-559A>G	NCR1, NLRP7	Single nucleotide variant (intron variant)	Hydatidiform mole, recurrent, 1	Gnot provided
Select item 97788	NM_001127255.2(NLRP7):c.2811-678C>A	NCR1, NLRP7	Single nucleotide variant (intron variant)	Hydatidiform mole, recurrent, 1	Gnot provided
Select item 97789	NM_001127255.2(NLRP7):c.2811-695T>C	NCR1, NLRP7	Single nucleotide variant (intron variant)	Hydatidiform mole, recurrent, 1	Gnot provided
Select item 97774	NM_001127255.2(NLRP7):c.2811-1214C>T	NCR1, NLRP7	Single nucleotide variant (intron variant)	Hydatidiform mole, recurrent, 1	Gnot provided
Select item 97769	NM_001127255.2(NLRP7):c.2810+224G>A	NCR1, NLRP7	Single nucleotide variant (intron variant)	Hydatidiform mole, recurrent, 1	Gnot provided
Select item 97768	NM_001127255.2(NLRP7):c.2810+171T>A	NCR1, NLRP7	Single nucleotide variant (intron variant)	Hydatidiform mole, recurrent, 1	Gnot provided
Select item 97767	NM_001127255.2(NLRP7):c.2810+126T>C	NCR1, NLRP7	Single nucleotide variant (intron variant)	Hydatidiform mole, recurrent, 1	Gnot provided
Select item 97766	NM_001127255.2(NLRP7):c.2810+123G>A	NCR1, NLRP7	Single nucleotide variant (intron variant)	Hydatidiform mole, recurrent, 1	Gnot provided
Select item 97773	NM_001127255.2(NLRP7):c.2810+57T>C	NCR1, NLRP7	Single nucleotide variant (intron variant)	Hydatidiform mole, recurrent, 1	Gnot provided
Select item 97771	NM_001127255.2(NLRP7):c.2810+26C>T	NCR1, NLRP7	Single nucleotide variant (intron variant)	Hydatidiform mole, recurrent, 1	Gnot provided
Select item 97772	NM_001127255.2(NLRP7):c.2810+2T>G	NCR1, NLRP7	Single nucleotide variant (splice donor variant)	Hydatidiform mole, recurrent, 1	Gnot provided
Select item 2635805	NM_001127255.2(NLRP7):c.2808dup (p.Arg937fs)	NCR1, NLRP7 (R909fs +1 more)	Duplication (frameshift variant)	NLRP7-related disorder	GLikely pathogenic
Select item 2218924	NM_001127255.2(NLRP7):c.2806C>A (p.Leu936Ile)	NCR1, NLRP7 (L908I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207880	NM_001127255.2(NLRP7):c.2803C>T (p.His935Tyr)	NCR1, NLRP7 (H907Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 290323	NM_001127255.2(NLRP7):c.2788A>T (p.Asn930Tyr)	NCR1, NLRP7 (N902Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 330156	NM_001127255.2(NLRP7):c.2775A>G (p.Ala925=)	NCR1, NLRP7	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 330157	NM_001127255.2(NLRP7):c.2750G>A (p.Arg917His)	NCR1, NLRP7 (R917H +1 more)	Single nucleotide variant (missense variant)	Hydatidiform mole, recurrent, 1 +1 more	GUncertain significance
Select item 1588	NM_001127255.2(NLRP7):c.2738A>G (p.Asn913Ser)	NCR1, NLRP7 (N913S +1 more)	Single nucleotide variant (missense variant)	Hydatidiform mole, recurrent, 1	GLikely pathogenic
Select item 893860	NM_001127255.2(NLRP7):c.2721C>T (p.Asn907=)	NCR1, NLRP7	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2557448	NM_001127255.2(NLRP7):c.2717C>A (p.Thr906Lys)	NCR1, NLRP7 (T878K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 893861	NM_001127255.2(NLRP7):c.2706C>T (p.Ala902=)	NCR1, NLRP7	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 3200701	NM_001127255.2(NLRP7):c.2704G>A (p.Ala902Thr)	NCR1, NLRP7 (A874T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 997710	NM_001127255.2(NLRP7):c.2695C>T (p.Leu899Phe)	NCR1, NLRP7 (L871F +1 more)	Single nucleotide variant (missense variant)	Hydatidiform mole	GUncertain significance
Select item 330158	NM_001127255.2(NLRP7):c.2682T>C (p.Tyr894=)	NCR1, NLRP7	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 3200700	NM_001127255.2(NLRP7):c.2681A>G (p.Tyr894Cys)	NCR1, NLRP7 (Y894C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302393	NM_001127255.2(NLRP7):c.2654G>A (p.Cys885Tyr)	NCR1, NLRP7 (C857Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 97764	NM_001127255.2(NLRP7):c.2643-246T>G	NCR1, NLRP7	Single nucleotide variant (intron variant)	Hydatidiform mole, recurrent, 1	Gnot provided
Select item 97765	NM_001127255.2(NLRP7):c.2643-364G>T	NCR1, NLRP7	Single nucleotide variant (intron variant)	Hydatidiform mole, recurrent, 1	Gnot provided
Select item 97763	NM_001127255.2(NLRP7):c.2643-1390T>C	NCR1, NLRP7	Single nucleotide variant (intron variant)	Hydatidiform mole, recurrent, 1	Gnot provided
Select item 97762	NM_001127255.2(NLRP7):c.2642+114G>A	NCR1, NLRP7	Single nucleotide variant (intron variant)	Hydatidiform mole, recurrent, 1	Gnot provided
Select item 997709	NM_001127255.2(NLRP7):c.2642+17TG[6]	NCR1, NLRP7	Microsatellite (intron variant)	Hydatidiform mole	GUncertain significance
Select item 3235890	NM_001127255.2(NLRP7):c.2585G>A (p.Gly862Glu)	NCR1, NLRP7 (G834E +1 more)	Single nucleotide variant (missense variant)	Hydatidiform mole, recurrent, 1	GLikely pathogenic
Select item 2604243	NM_001127255.2(NLRP7):c.2551C>G (p.Leu851Val)	NCR1, NLRP7 (L823V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 330159	NM_001127255.2(NLRP7):c.2548C>T (p.His850Tyr)	NCR1, NLRP7 (H850Y +1 more)	Single nucleotide variant (missense variant)	Hydatidiform mole, recurrent, 1	GUncertain significance
Select item 3043555	NM_001127255.2(NLRP7):c.2542C>T (p.Leu848=)	NCR1, NLRP7	Single nucleotide variant (synonymous variant)	NLRP7-related disorder	GLikely benign
Select item 894773	NM_001127255.2(NLRP7):c.2504G>T (p.Cys835Phe)	NCR1, NLRP7 (C807F +1 more)	Single nucleotide variant (missense variant)	Hydatidiform mole, recurrent, 1	GUncertain significance
Select item 2253982	NM_001127255.2(NLRP7):c.2485C>T (p.Arg829Cys)	NCR1, NLRP7 (R801C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 97759	NM_001127255.2(NLRP7):c.2472-126A>G	NCR1, NLRP7	Single nucleotide variant (intron variant)	Hydatidiform mole, recurrent, 1	Gnot provided
Select item 97760	NM_001127255.2(NLRP7):c.2472-181G>A	NCR1, NLRP7	Single nucleotide variant (intron variant)	Hydatidiform mole, recurrent, 1	Gnot provided
Select item 97758	NM_001127255.2(NLRP7):c.2471+81_2471+82insG	NCR1, NLRP7	Insertion (intron variant)	Hydatidiform mole, recurrent, 1	Gnot provided
Select item 1585	NM_001127255.2(NLRP7):c.2471+1G>A	NCR1, NLRP7	Single nucleotide variant (splice donor variant)	Hydatidiform mole, recurrent, 1	GPathogenic
Select item 2206406	NM_001127255.2(NLRP7):c.2453A>G (p.His818Arg)	NCR1, NLRP7 (H818R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3025285	NM_001127255.2(NLRP7):c.2444G>A (p.Arg815His)	NCR1, NLRP7 (R787H +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2326826	NM_001127255.2(NLRP7):c.2439G>C (p.Met813Ile)	NCR1, NLRP7 (M785I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 894774	NM_001127255.2(NLRP7):c.2420T>G (p.Met807Arg)	NCR1, NLRP7 (M779R +1 more)	Single nucleotide variant (missense variant)	Hydatidiform mole, recurrent, 1 +1 more	GUncertain significance
Select item 834074	NM_001127255.2(NLRP7):c.2402T>C (p.Leu801Pro)	NCR1, NLRP7 (L773P +1 more)	Single nucleotide variant (missense variant)	Hydatidiform mole, recurrent, 1	GUncertain significance
Select item 330160	NM_001127255.2(NLRP7):c.2384G>A (p.Arg795His)	NCR1, NLRP7 (R795H +1 more)	Single nucleotide variant (missense variant)	Hydatidiform mole, recurrent, 1 +1 more	GConflicting classifications of pathogenicity
Select item 894775	NM_001127255.2(NLRP7):c.2383C>T (p.Arg795Cys)	NCR1, NLRP7 (R795C +1 more)	Single nucleotide variant (missense variant)	Hydatidiform mole, recurrent, 1	GBenign
Select item 330161	NM_001127255.2(NLRP7):c.2373G>A (p.Leu791=)	NCR1, NLRP7	Single nucleotide variant (synonymous variant)	Hydatidiform mole, recurrent, 1	GUncertain significance
Select item 3048430	NM_001127255.2(NLRP7):c.2364C>T (p.Asn788=)	NCR1, NLRP7	Single nucleotide variant (synonymous variant)	NLRP7-related disorder	GLikely benign
Select item 894776	NM_001127255.2(NLRP7):c.2361C>T (p.Ala787=)	NCR1, NLRP7	Single nucleotide variant (synonymous variant)	Hydatidiform mole, recurrent, 1	GUncertain significance
Select item 97756	NM_001127255.2(NLRP7):c.2334G>A (p.Trp778Ter)	NCR1, NLRP7 (W778* +1 more)	Single nucleotide variant (nonsense)	Hydatidiform mole, recurrent, 1	Gnot provided
Select item 330162	NM_001127255.2(NLRP7):c.2325G>A (p.Pro775=)	NCR1, NLRP7	Single nucleotide variant (synonymous variant)	Hydatidiform mole, recurrent, 1 +1 more	GLikely benign
Select item 830330	NM_001127255.2(NLRP7):c.2320_2321insT (p.Thr774Ilefs)	NCR1, NLRP7 (T746fs +1 more)	Insertion (frameshift variant)	Hydatidiform mole, recurrent, 1	GLikely pathogenic

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