ClinVar for MedGen (Select 483038) - 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 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 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 2571601	NM_001127255.2(NLRP7):c.277+1G>A	NLRP7	Single nucleotide variant (splice donor variant)	Hydatidiform mole, recurrent, 1	GLikely pathogenic
Select item 2434382	NM_001127255.2(NLRP7):c.637A>G (p.Lys213Glu)	NLRP7 (K213E)	Single nucleotide variant (missense variant)	Hydatidiform mole, recurrent, 1	GUncertain significance
Select item 1031155	NM_001127255.2(NLRP7):c.298A>G (p.Ile100Val)	NLRP7 (I100V)	Single nucleotide variant (missense variant)	Hydatidiform mole, recurrent, 1 +1 more	GUncertain significance
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)	not provided +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 894311	NM_001127255.2(NLRP7):c.467G>A (p.Arg156Gln)	NLRP7 (R156Q)	Single nucleotide variant (missense variant)	Hydatidiform mole, recurrent, 1 +1 more	GBenign/Likely benign
Select item 894310	NM_001127255.2(NLRP7):c.519G>A (p.Thr173=)	NLRP7	Single nucleotide variant (synonymous variant)	Hydatidiform mole, recurrent, 1	GUncertain significance
Select item 894309	NM_001127255.2(NLRP7):c.528G>A (p.Leu176=)	NLRP7	Single nucleotide variant (synonymous variant)	Hydatidiform mole, recurrent, 1	GUncertain significance
Select item 894287	NM_001127255.2(NLRP7):c.1169G>A (p.Arg390His)	NLRP7 (R390H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 894286	NM_001127255.2(NLRP7):c.1187G>A (p.Arg396His)	NLRP7 (R396H)	Single nucleotide variant (missense variant)	Hydatidiform mole, recurrent, 1	GUncertain significance
Select item 894285	NM_001127255.2(NLRP7):c.1191C>T (p.Phe397=)	NLRP7	Single nucleotide variant (synonymous variant)	Hydatidiform mole, recurrent, 1	GUncertain significance
Select item 894284	NM_001127255.2(NLRP7):c.1296A>C (p.Arg432=)	NLRP7	Single nucleotide variant (synonymous variant)	Hydatidiform mole, recurrent, 1	GUncertain significance
Select item 894283	NM_001127255.2(NLRP7):c.1299G>C (p.Glu433Asp)	NLRP7 (E433D)	Single nucleotide variant (missense variant)	Hydatidiform mole, recurrent, 1	GUncertain significance
Select item 893924	NM_001127255.2(NLRP7):c.603C>T (p.Ser201=)	NLRP7	Single nucleotide variant (synonymous variant)	Hydatidiform mole, recurrent, 1 +1 more	GLikely benign
Select item 893923	NM_001127255.2(NLRP7):c.750C>A (p.Phe250Leu)	NLRP7 (F250L)	Single nucleotide variant (missense variant)	Hydatidiform mole, recurrent, 1	GUncertain significance
Select item 893922	NM_001127255.2(NLRP7):c.790G>A (p.Ala264Thr)	NLRP7 (A264T)	Single nucleotide variant (missense variant)	Hydatidiform mole, recurrent, 1	GUncertain significance
Select item 893921	NM_001127255.2(NLRP7):c.809G>A (p.Cys270Tyr)	NLRP7 (C270Y)	Single nucleotide variant (missense variant)	Hydatidiform mole, recurrent, 1 +1 more	GUncertain significance
Select item 893892	NM_001127255.2(NLRP7):c.1336C>T (p.Arg446Cys)	NLRP7 (R446C)	Single nucleotide variant (missense variant)	Hydatidiform mole, recurrent, 1	GUncertain significance
Select item 893891	NM_001127255.2(NLRP7):c.1501C>G (p.Gln501Glu)	NLRP7 (Q501E)	Single nucleotide variant (missense variant)	Hydatidiform mole, recurrent, 1	GUncertain significance
Select item 893890	NM_001127255.2(NLRP7):c.1514C>T (p.Ser505Phe)	NLRP7 (S505F)	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 893671	NM_001127255.2(NLRP7):c.99C>T (p.Pro33=)	NLRP7	Single nucleotide variant (synonymous variant)	Hydatidiform mole, recurrent, 1	GUncertain significance
Select item 893638	NM_001127255.2(NLRP7):c.929A>G (p.Gln310Arg)	NLRP7 (Q310R)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 893637	NM_001127255.2(NLRP7):c.930G>T (p.Gln310His)	NLRP7 (Q310H)	Single nucleotide variant (missense variant)	Hydatidiform mole, recurrent, 1	GUncertain significance
Select item 893636	NM_001127255.2(NLRP7):c.931C>A (p.Leu311Ile)	NLRP7 (L311I)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 893608	NM_001127255.2(NLRP7):c.1569C>T (p.Phe523=)	NLRP7	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 893607	NM_001127255.2(NLRP7):c.1605G>A (p.Glu535=)	NLRP7	Single nucleotide variant (synonymous variant)	Hydatidiform mole, recurrent, 1	GUncertain significance
Select item 893606	NM_001127255.2(NLRP7):c.1614T>A (p.Phe538Leu)	NLRP7 (F538L)	Single nucleotide variant (missense variant)	Hydatidiform mole, recurrent, 1	GUncertain significance
Select item 893605	NM_001127255.2(NLRP7):c.1762G>A (p.Val588Met)	NLRP7 (V588M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 893604	NM_001127255.2(NLRP7):c.1767C>T (p.Ala589=)	NLRP7	Single nucleotide variant (synonymous 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 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 892861	NM_001127255.2(NLRP7):c.184T>G (p.Ser62Ala)	NLRP7 (S62A)	Single nucleotide variant (missense variant)	Hydatidiform mole, recurrent, 1	GUncertain significance
Select item 892860	NM_001127255.2(NLRP7):c.198G>C (p.Trp66Cys)	NLRP7 (W66C)	Single nucleotide variant (missense variant)	Hydatidiform mole, recurrent, 1	GUncertain significance
Select item 892859	NM_001127255.2(NLRP7):c.226G>C (p.Glu76Gln)	NLRP7 (E76Q)	Single nucleotide variant (missense variant)	Hydatidiform mole, recurrent, 1	GUncertain significance
Select item 892858	NM_001127255.2(NLRP7):c.278-12A>C	NLRP7	Single nucleotide variant (intron variant)	Hydatidiform mole, recurrent, 1	GUncertain significance
Select item 892857	NM_001127255.2(NLRP7):c.361G>A (p.Glu121Lys)	NLRP7 (E121K)	Single nucleotide variant (missense variant)	Hydatidiform mole, recurrent, 1	GUncertain significance
Select item 892832	NM_001127255.2(NLRP7):c.1104T>G (p.Ile368Met)	NLRP7 (I368M)	Single nucleotide variant (missense variant)	Hydatidiform mole, recurrent, 1	GUncertain significance
Select item 892831	NM_001127255.2(NLRP7):c.1111A>G (p.Thr371Ala)	NLRP7 (T371A)	Single nucleotide variant (missense variant)	Hydatidiform mole, recurrent, 1	GUncertain significance
Select item 892830	NM_001127255.2(NLRP7):c.1149G>A (p.Pro383=)	NLRP7	Single nucleotide variant (synonymous 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 812700	NM_001127255.2(NLRP7):c.1857_1858delAC (p.Lys619Asnfs)	NLRP7 (K619fs)	Deletion (frameshift variant)	Hydatidiform mole, recurrent, 1	GPathogenic
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 330189	NM_206828.4(NLRP7):c.-49C>T	NLRP7	Single nucleotide variant	Hydatidiform mole, recurrent, 1	GUncertain significance
Select item 330188	NM_001127255.2(NLRP7):c.-39-3C>T	NLRP7	Single nucleotide variant (intron variant)	Hydatidiform mole, recurrent, 1	GUncertain significance
Select item 330187	NM_206828.4(NLRP7):c.-9C>T	NLRP7	Single nucleotide variant	not provided +1 more	GUncertain significance
Select item 330186	NM_001127255.2(NLRP7):c.66A>G (p.Leu22=)	NLRP7	Single nucleotide variant (synonymous variant)	Hydatidiform mole, recurrent, 1	GUncertain significance
Select item 330185	NM_001127255.2(NLRP7):c.336G>C (p.Ser112=)	NLRP7	Single nucleotide variant (synonymous variant)	Hydatidiform mole, recurrent, 1	GUncertain significance
Select item 330184	NM_001127255.2(NLRP7):c.352+13G>A	NLRP7	Single nucleotide variant (intron variant)	Hydatidiform mole, recurrent, 1 +1 more	GUncertain significance
Select item 330183	NM_001127255.2(NLRP7):c.390G>A (p.Gln130=)	NLRP7	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 330182	NM_001127255.2(NLRP7):c.445G>A (p.Asp149Asn)	NLRP7 (D149N)	Single nucleotide variant (missense variant)	Hydatidiform mole, recurrent, 1	GUncertain significance
Select item 330181	NM_001127255.2(NLRP7):c.531C>T (p.His177=)	NLRP7	Single nucleotide variant (synonymous variant)	Hydatidiform mole, recurrent, 1	GConflicting classifications of pathogenicity
Select item 330180	NM_001127255.2(NLRP7):c.555C>T (p.Thr185=)	NLRP7	Single nucleotide variant (synonymous variant)	Hydatidiform mole, recurrent, 1	GUncertain significance
Select item 330179	NM_001127255.2(NLRP7):c.681C>A (p.Ile227=)	NLRP7	Single nucleotide variant (synonymous variant)	Hydatidiform mole, recurrent, 1	GUncertain significance
Select item 330178	NM_001127255.2(NLRP7):c.749T>G (p.Phe250Cys)	NLRP7 (F250C)	Single nucleotide variant (missense variant)	Hydatidiform mole, recurrent, 1	GUncertain significance
Select item 330177	NM_001127255.2(NLRP7):c.835G>T (p.Val279Leu)	NLRP7 (V279L)	Single nucleotide variant (missense variant)	Hydatidiform mole, recurrent, 1 +1 more	GUncertain significance
Select item 330176	NM_001127255.2(NLRP7):c.955G>A (p.Val319Ile)	NLRP7 (V319I)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 330175	NM_001127255.2(NLRP7):c.977A>T (p.Glu326Val)	NLRP7 (E326V)	Single nucleotide variant (missense variant)	Hydatidiform mole, recurrent, 1 +1 more	GUncertain significance
Select item 330174	NM_001127255.2(NLRP7):c.1104T>C (p.Ile368=)	NLRP7	Single nucleotide variant (synonymous variant)	Hydatidiform mole, recurrent, 1 +1 more	GLikely benign
Select item 330173	NM_001127255.2(NLRP7):c.1113G>A (p.Thr371=)	NLRP7	Single nucleotide variant (synonymous variant)	Hydatidiform mole, recurrent, 1	GUncertain significance
Select item 330172	NM_001127255.2(NLRP7):c.1137G>A (p.Lys379=)	NLRP7	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 330171	NM_001127255.2(NLRP7):c.1168C>T (p.Arg390Cys)	NLRP7 (R390C)	Single nucleotide variant (missense variant)	Hydatidiform mole, recurrent, 1	GUncertain significance
Select item 330170	NM_001127255.2(NLRP7):c.1257C>G (p.Ala419=)	NLRP7	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 330169	NM_001127255.2(NLRP7):c.1461_1463GGA[3] (p.Glu488_Asp489insGlu)	NLRP7	Microsatellite (inframe_insertion +1 more)	Hydatidiform mole, recurrent, 1	GUncertain significance
Select item 330168	NM_001127255.2(NLRP7):c.1488C>T (p.Asp496=)	NLRP7	Single nucleotide variant (synonymous variant)	Hydatidiform mole, recurrent, 1	GUncertain significance
Select item 330167	NM_001127255.2(NLRP7):c.1491C>T (p.Ile497=)	NLRP7	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 330166	NM_001127255.2(NLRP7):c.1548T>C (p.Ile516=)	NLRP7	Single nucleotide variant (synonymous variant)	Hydatidiform mole, recurrent, 1	GUncertain significance
Select item 330165	NM_001127255.2(NLRP7):c.1718G>A (p.Gly573Asp)	NLRP7 (G573D)	Single nucleotide variant (missense variant)	Hydatidiform mole, recurrent, 1	GUncertain significance
Select item 330164	NM_001127255.2(NLRP7):c.1725G>T (p.Leu575=)	NLRP7	Single nucleotide variant (synonymous variant)	Hydatidiform mole +2 more	GLikely benign
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 290507	NM_001127255.2(NLRP7):c.1460G>A (p.Gly487Glu)	NLRP7 (G487E)	Single nucleotide variant (missense variant)	Hydatidiform mole, recurrent, 1 +2 more	GBenign
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 288252	NM_001127255.2(NLRP7):c.1082C>T (p.Ser361Leu)	NLRP7 (S361L)	Single nucleotide variant (missense variant)	Hydatidiform mole, recurrent, 1 +1 more	GConflicting classifications of pathogenicity

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