ClinVar for Gene (Select 9437) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382290	NM_001127255.2(NLRP7):c.2218_2224del (p.Gly740fs)	NCR1, NLRP7 (G712fs +1 more)	Deletion (frameshift variant)	Hydatidiform mole, recurrent, 1	GLikely pathogenic
Select item 3376766	NM_001127255.2(NLRP7):c.2177C>T (p.Ala726Val)	NCR1, NLRP7 (A698V +1 more)	Single nucleotide variant (missense variant)	Hydatidiform mole, recurrent, 1	GLikely pathogenic
Select item 3300109	NM_001127255.2(NLRP7):c.2226C>G (p.Ile742Met)	NCR1, NLRP7 (I714M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3300104	NM_001127255.2(NLRP7):c.2008C>G (p.Leu670Val)	NCR1, NLRP7 (L670V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3298940	NM_004829.7(NCR1):c.533G>A (p.Gly178Asp)	NCR1 (G83D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298939	NM_004829.7(NCR1):c.426C>G (p.Phe142Leu)	NCR1 (F47L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298938	NM_004829.7(NCR1):c.181C>A (p.His61Asn)	NCR1 (H61N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3298937	NM_004829.7(NCR1):c.764A>G (p.Asn255Ser)	NCR1 (N143S +4 more)	Single nucleotide variant (missense variant)	not specified	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 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 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 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 3185266	NM_004829.7(NCR1):c.88T>G (p.Phe30Val)	NCR1 (F30V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185264	NM_004829.7(NCR1):c.802G>T (p.Ala268Ser)	NCR1 (A173S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185254	NM_004829.7(NCR1):c.494A>G (p.Gln165Arg)	NCR1 (Q165R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185247	NM_004829.7(NCR1):c.442A>C (p.Thr148Pro)	NCR1 (T53P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185239	NM_004829.7(NCR1):c.226G>C (p.Glu76Gln)	NCR1 (E76Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185234	NM_004829.7(NCR1):c.181C>G (p.His61Asp)	NCR1 (H61D)	Single nucleotide variant (missense variant +1 more)	not specified	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 3043555	NM_001127255.2(NLRP7):c.2542C>T (p.Leu848=)	NCR1, NLRP7	Single nucleotide variant (synonymous variant)	NLRP7-related disorder	GLikely benign
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 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 2684892	GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	ACP4, ADM5 +261 more	Copy number gain	not provided	GLikely pathogenic
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 2635805	NM_001127255.2(NLRP7):c.2808dup (p.Arg937fs)	NCR1, NLRP7 (R909fs +1 more)	Duplication (frameshift variant)	NLRP7-related disorder	GLikely pathogenic
Select item 2610862	NM_001127255.2(NLRP7):c.1976G>A (p.Arg659His)	NCR1, NLRP7 (R659H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2585388	NM_001127255.2(NLRP7):c.2002T>C (p.Cys668Arg)	NCR1, NLRP7 (C668R)	Single nucleotide variant (missense variant +1 more)	Hydatidiform mole, recurrent, 1	GUncertain significance
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 2487097	NM_004829.7(NCR1):c.331A>G (p.Asn111Asp)	NCR1 (N111D)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2484491	NM_004829.7(NCR1):c.127A>G (p.Lys43Glu)	NCR1 (K43E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468308	NM_004829.7(NCR1):c.566G>A (p.Arg189Gln)	NCR1 (R94Q +1 more)	Single nucleotide variant (missense variant)	not specified	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 2379927	NM_004829.7(NCR1):c.271C>T (p.Arg91Cys)	NCR1 (R91C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368077	NM_001127255.2(NLRP7):c.2162G>T (p.Arg721Leu)	NCR1, NLRP7 (R721L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365099	NM_001127255.2(NLRP7):c.2105G>A (p.Ser702Asn)	NCR1, NLRP7 (S674N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363911	NM_004829.7(NCR1):c.644A>G (p.Glu215Gly)	NCR1 (E120G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2362816	NM_001127255.2(NLRP7):c.2155G>A (p.Ala719Thr)	NCR1, NLRP7 (A719T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337342	NM_004829.7(NCR1):c.773G>A (p.Arg258Gln)	NCR1 (R241Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2304810	NM_004829.7(NCR1):c.10A>G (p.Thr4Ala)	NCR1 (T4A)	Single nucleotide variant (missense variant)	not specified	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 2301128	NM_004829.7(NCR1):c.263T>G (p.Met88Arg)	NCR1 (M88R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299334	NM_004829.7(NCR1):c.482C>T (p.Ser161Phe)	NCR1 (S66F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259138	NM_004829.7(NCR1):c.182A>G (p.His61Arg)	NCR1 (H61R)	Single nucleotide variant (missense variant +1 more)	not specified	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 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 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 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 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 1443808	NC_000019.9:g.(?_54297303)_(55678016_?)dup	CACNG6, CACNG7 +51 more	Duplication	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 997712	NM_001127255.2(NLRP7):c.2982-28del	NCR1, NLRP7	Deletion (intron variant)	Hydatidiform mole	GLikely benign
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 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 997709	NM_001127255.2(NLRP7):c.2642+17TG[6]	NCR1, NLRP7	Microsatellite (intron variant)	Hydatidiform mole	GUncertain significance
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 932559	NM_004829.7(NCR1):c.339G>A (p.Leu113=)	NCR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 894777	NM_001127255.2(NLRP7):c.2250G>C (p.Leu750=)	NCR1, NLRP7	Single nucleotide variant (synonymous variant)	Hydatidiform mole, recurrent, 1	GUncertain significance
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 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 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 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 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 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 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 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 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 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 893568	NM_206828.4(NLRP7):c.*20C>T	NCR1, NLRP7	Single nucleotide variant	Hydatidiform mole, recurrent, 1	GUncertain significance
Select item 892802	NM_001127255.2(NLRP7):c.2154C>T (p.Thr718=)	NCR1, NLRP7	Single nucleotide variant (synonymous variant)	Hydatidiform mole, recurrent, 1	GUncertain significance
Select item 892801	NM_001127255.2(NLRP7):c.2204A>G (p.His735Arg)	NCR1, NLRP7 (H707R +1 more)	Single nucleotide variant (missense variant)	Hydatidiform mole, recurrent, 1	GUncertain significance
Select item 892800	NM_001127255.2(NLRP7):c.2226C>T (p.Ile742=)	NCR1, NLRP7	Single nucleotide variant (synonymous variant)	Hydatidiform mole, recurrent, 1	GUncertain significance
Select item 892762	NM_206828.4(NLRP7):c.*44G>A	NCR1, NLRP7	Single nucleotide variant	Hydatidiform mole, recurrent, 1	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 830330	NM_001127255.2(NLRP7):c.2320_2321insT (p.Thr774Ilefs)	NCR1, NLRP7 (T746fs +1 more)	Insertion (frameshift variant)	Hydatidiform mole, recurrent, 1	GLikely pathogenic
Select item 816093	GRCh37/hg19 19q13.42(chr19:54701333-55536206)x3	CDC42EP5, FCAR +28 more	Copy number gain	not provided	GUncertain significance
Select item 775585	NM_001127255.2(NLRP7):c.2201C>T (p.Thr734Met)	NCR1, NLRP7 (T734M +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 631820	NM_001127255.2(NLRP7):c.2130-2A>G	NCR1, NLRP7	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 564602	GRCh37/hg19 19q13.42(chr19:53867570-55833460)x3	BRSK1, CACNG6 +68 more	Copy number gain	not provided	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 394342	GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3	A1BG, ACP4 +280 more	Copy number gain	See cases	GPathogenic
Select item 330163	NM_001127255.2(NLRP7):c.2129+6T>C	NCR1, NLRP7	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 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 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 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 330158	NM_001127255.2(NLRP7):c.2682T>C (p.Tyr894=)	NCR1, NLRP7	Single nucleotide variant (synonymous variant)	not provided +3 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 330156	NM_001127255.2(NLRP7):c.2775A>G (p.Ala925=)	NCR1, NLRP7	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
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 330154	NM_206828.4(NLRP7):c.*5C>T	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 330152	NM_206828.4(NLRP7):c.*183G>A	NCR1, NLRP7	Single nucleotide variant	Hydatidiform mole, recurrent, 1	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 253872	GRCh37/hg19 19q13.42(chr19:55392342-55574857)x3	FCAR, GP6 +4 more	Copy number gain	See cases	GUncertain significance
Select item 221404	GRCh37/hg19 19q13.42(chr19:54710237-55648526)x1	LILRB3, CDC42EP5 +32 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance

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