91662[geneid] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 1219

<< First< Prev

Page of 13

	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 599192	NC_000019.10:g.53536530_53981185dup	MIR525, MIR526A1 +61 more	Duplication	Silver Russell Syndrome-related disorder	GUncertain significance
Select item 58804	GRCh38/hg38 19q13.42(chr19:53553042-53899466)x3	DPRX, LOC121627888 +58 more	Copy number gain	See cases	GUncertain significance
Select item 152850	GRCh38/hg38 19q13.42(chr19:53692245-53808292)x3	MIR1283-2, MIR371A +37 more	Copy number gain	See cases	GUncertain significance
Select item 102979	NM_144687.3(NLRP12):c.*544C>A	NLRP12	Single nucleotide variant	not provided	Gnot provided
Select item 369290	NM_001277126.1(NLRP12):c.*471A>G	NLRP12	Single nucleotide variant	Familial cold autoinflammatory syndrome	GLikely benign
Select item 329983	NM_144687.3(NLRP12):c.*430G>A	NLRP12	Single nucleotide variant (3 prime UTR variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 893240	NM_144687.3(NLRP12):c.*423G>T	NLRP12	Single nucleotide variant (3 prime UTR variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 329984	NM_144687.3(NLRP12):c.*402G>A	NLRP12	Single nucleotide variant (3 prime UTR variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 329985	NM_144687.3(NLRP12):c.*395C>T	NLRP12	Single nucleotide variant (3 prime UTR variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 894092	NM_144687.3(NLRP12):c.*385T>G	NLRP12	Single nucleotide variant (3 prime UTR variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 329986	NM_144687.3(NLRP12):c.*362G>T	NLRP12	Single nucleotide variant (3 prime UTR variant)	Familial cold autoinflammatory syndrome	GLikely benign
Select item 329987	NM_144687.3(NLRP12):c.*343A>G	NLRP12	Single nucleotide variant (3 prime UTR variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 329988	NM_144687.3(NLRP12):c.*324delG	NLRP12	Deletion (3 prime UTR variant)	Familial cold autoinflammatory syndrome	GBenign
Select item 329989	NM_144687.4(NLRP12):c.*290A>C	NLRP12	Single nucleotide variant (3 prime UTR variant)	Familial cold autoinflammatory syndrome 2 +1 more	GUncertain significance
Select item 329990	NM_144687.4(NLRP12):c.*266G>T	NLRP12	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 894482	NM_144687.4(NLRP12):c.*229G>A	NLRP12	Single nucleotide variant (3 prime UTR variant)	Familial cold autoinflammatory syndrome 2 +1 more	GBenign
Select item 329991	NM_144687.4(NLRP12):c.*205G>A	NLRP12	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 329992	NM_144687.4(NLRP12):c.*204C>T	NLRP12	Single nucleotide variant (3 prime UTR variant)	Familial cold autoinflammatory syndrome 2	GBenign
Select item 329993	NM_144687.4(NLRP12):c.*203T>C	NLRP12	Single nucleotide variant (3 prime UTR variant)	Familial cold autoinflammatory syndrome 2	GBenign
Select item 894483	NM_144687.4(NLRP12):c.*194C>T	NLRP12	Single nucleotide variant (3 prime UTR variant)	Familial cold autoinflammatory syndrome 2	GBenign
Select item 894484	NM_144687.4(NLRP12):c.*172C>T	NLRP12	Single nucleotide variant (3 prime UTR variant)	Familial cold autoinflammatory syndrome 2	GBenign
Select item 329994	NM_144687.4(NLRP12):c.*161A>C	NLRP12	Single nucleotide variant (3 prime UTR variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 329995	NM_144687.4(NLRP12):c.*126G>C	NLRP12	Single nucleotide variant (3 prime UTR variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 329996	NM_144687.4(NLRP12):c.*118G>A	NLRP12	Single nucleotide variant (3 prime UTR variant)	Familial cold autoinflammatory syndrome 2	GBenign
Select item 893058	NM_144687.4(NLRP12):c.*108T>C	NLRP12	Single nucleotide variant (3 prime UTR variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 329997	NM_144687.4(NLRP12):c.*69C>A	NLRP12	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 663946	NC_000019.10:g.(?_53794029)_(53794156_?)del	NLRP12	Deletion	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 655749	NC_000019.9:g.(?_54297283)_(54318262_?)dup	NLRP12	Duplication	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 536950	NC_000019.9:g.(?_54297283)_(54327448_?)dup	NLRP12	Duplication	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 2753559	NM_144687.4(NLRP12):c.3185G>A (p.Ter1062=)	NLRP12	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 2	GLikely benign
Select item 855846	NM_144687.4(NLRP12):c.3181T>G (p.Cys1061Gly)	NLRP12 (C1004G +2 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 2784883	NM_144687.4(NLRP12):c.3180C>G (p.Gly1060=)	NLRP12	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 2	GBenign
Select item 1669569	NM_144687.4(NLRP12):c.3180C>T (p.Gly1060=)	NLRP12	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 2	GLikely benign
Select item 2630026	NM_144687.4(NLRP12):c.3176T>C (p.Ile1059Thr)	NLRP12 (I1002T +2 more)	Single nucleotide variant (missense variant)	NLRP12-related disorder	GUncertain significance
Select item 1693754	NM_144687.4(NLRP12):c.3174C>A (p.Asp1058Glu)	NLRP12 (D1001E +2 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2 +1 more	GUncertain significance
Select item 756853	NM_144687.4(NLRP12):c.3168T>C (p.Tyr1056=)	NLRP12	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 2	GLikely benign
Select item 546852	NM_144687.4(NLRP12):c.3161_3162del (p.Lys1054fs)	NLRP12 (K1054fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1464003	NM_144687.4(NLRP12):c.3160A>G (p.Lys1054Glu)	NLRP12 (K1055E +2 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 1694421	NM_144687.4(NLRP12):c.3159A>G (p.Thr1053=)	NLRP12	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome	GUncertain significance
Select item 656393	NM_144687.4(NLRP12):c.3152G>A (p.Arg1051Gln)	NLRP12 (R994Q +2 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 329998	NM_144687.4(NLRP12):c.3152G>C (p.Arg1051Pro)	NLRP12 (R1051P +2 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2	GConflicting classifications of pathogenicity
Select item 489269	NM_144687.4(NLRP12):c.3151C>T (p.Arg1051Ter)	NLRP12 (R1051* +2 more)	Single nucleotide variant (nonsense)	Familial cold autoinflammatory syndrome 2 +1 more	GUncertain significance
Select item 2085777	NM_144687.4(NLRP12):c.3149T>A (p.Leu1050His)	NLRP12 (L1051H +2 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 662273	NM_144687.4(NLRP12):c.3148C>T (p.Leu1050Phe)	NLRP12 (L1051F +2 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 993802	NM_144687.4(NLRP12):c.3147G>A (p.Ala1049=)	NLRP12	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 2	GLikely benign
Select item 329999	NM_144687.4(NLRP12):c.3146C>T (p.Ala1049Val)	NLRP12 (A1050V +2 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1488679	NM_144687.4(NLRP12):c.3136A>G (p.Arg1046Gly)	NLRP12 (R1046G +2 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 1484781	NM_144687.4(NLRP12):c.3133A>C (p.Ser1045Arg)	NLRP12 (S1046R +2 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 663725	NM_144687.4(NLRP12):c.3128C>T (p.Thr1043Ile)	NLRP12 (T1043I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1431815	NM_144687.4(NLRP12):c.3127A>G (p.Thr1043Ala)	NLRP12 (T1043A +2 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 1482033	NM_144687.4(NLRP12):c.3125T>G (p.Met1042Arg)	NLRP12 (M1042R +2 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 2047679	NM_144687.4(NLRP12):c.3120_3122dup (p.Asn1040_Lys1041insAsn)	NLRP12	Duplication (inframe_insertion)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 566252	NM_144687.4(NLRP12):c.3109A>G (p.Met1037Val)	NLRP12 (M1037V +2 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 1348387	NM_144687.4(NLRP12):c.3106G>A (p.Gly1036Arg)	NLRP12 (G1037R +2 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 1460904	NM_144687.4(NLRP12):c.3099G>T (p.Trp1033Cys)	NLRP12 (W1033C +2 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 1597618	NM_144687.4(NLRP12):c.3099-19_3099-17del	NLRP12	Deletion (intron variant)	Familial cold autoinflammatory syndrome 2	GLikely benign
Select item 2994135	NM_144687.4(NLRP12):c.3099-19T>G	NLRP12	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 2	GLikely benign
Select item 1674730	NM_144687.4(NLRP12):c.3099-20A>G	NLRP12	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 2	GLikely benign
Select item 1596503	NM_144687.4(NLRP12):c.3099-22_3099-20del	NLRP12	Microsatellite (intron variant)	Familial cold autoinflammatory syndrome 2	GLikely benign
Select item 1279160	NM_144687.4(NLRP12):c.3099-33A>G	NLRP12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238643	NM_144687.4(NLRP12):c.3099-148T>C	NLRP12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249997	NM_144687.4(NLRP12):c.3098+206A>G	NLRP12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280492	NM_144687.4(NLRP12):c.3098+193C>T	NLRP12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283596	NM_144687.4(NLRP12):c.3098+189C>T	NLRP12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234743	NM_144687.4(NLRP12):c.3098+138G>C	NLRP12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242297	NM_144687.4(NLRP12):c.3098+99G>A	NLRP12	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1535711	NM_144687.4(NLRP12):c.3098+18G>C	NLRP12	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2771291	NM_144687.4(NLRP12):c.3098+17A>G	NLRP12	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 2	GBenign
Select item 1653460	NM_144687.4(NLRP12):c.3098+10G>C	NLRP12	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 2	GLikely benign
Select item 1619490	NM_144687.4(NLRP12):c.3098+10G>A	NLRP12	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 2	GLikely benign
Select item 2979531	NM_144687.4(NLRP12):c.3098+6G>T	NLRP12	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 2792464	NM_144687.4(NLRP12):c.3098+4A>G	NLRP12	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 424316	NM_144687.4(NLRP12):c.3078_3098+1del	NLRP12	Deletion (splice donor variant)	not provided +1 more	GUncertain significance
Select item 1694420	NM_144687.4(NLRP12):c.3095T>C (p.Leu1032Pro)	NLRP12 (L1032P +2 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome	GUncertain significance
Select item 1694419	NM_144687.4(NLRP12):c.3092T>A (p.Val1031Asp)	NLRP12 (V1031D +2 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome	GUncertain significance
Select item 2175191	NM_144687.4(NLRP12):c.3090A>T (p.Arg1030=)	NLRP12	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 2	GLikely benign
Select item 1009704	NM_144687.4(NLRP12):c.3089G>A (p.Arg1030Gln)	NLRP12 (R1030Q +2 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 945830	NM_144687.4(NLRP12):c.3088C>T (p.Arg1030Ter)	NLRP12 (R1031* +2 more)	Single nucleotide variant (nonsense)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 330000	NM_144687.4(NLRP12):c.3088C>G (p.Arg1030Gly)	NLRP12 (R1030G +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1086417	NM_144687.4(NLRP12):c.3081C>T (p.Cys1027=)	NLRP12	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 2	GLikely benign
Select item 3023107	NM_144687.4(NLRP12):c.3079T>C (p.Cys1027Arg)	NLRP12 (C1028R +2 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 2197141	NM_144687.4(NLRP12):c.3068del (p.Ser1023fs)	NLRP12 (S1023fs +2 more)	Deletion (frameshift variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 808636	NM_144687.4(NLRP12):c.3065T>G (p.Leu1022Arg)	NLRP12 (L1022R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1397617	NM_144687.4(NLRP12):c.3062G>A (p.Arg1021Gln)	NLRP12 (R964Q +2 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 2986291	NM_144687.4(NLRP12):c.3061C>T (p.Arg1021Trp)	NLRP12 (R964W +2 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 1401818	NM_144687.4(NLRP12):c.3052C>T (p.Leu1018Phe)	NLRP12 (L1019F +2 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 1935057	NM_144687.4(NLRP12):c.3047G>A (p.Arg1016Gln)	NLRP12 (R1017Q +2 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 330001	NM_144687.4(NLRP12):c.3046C>T (p.Arg1016Ter)	NLRP12 (R1016* +2 more)	Single nucleotide variant (nonsense)	Autoinflammatory syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1636919	NM_144687.4(NLRP12):c.3042T>C (p.Gly1014=)	NLRP12	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 2736924	NM_144687.4(NLRP12):c.3039_3040del (p.Gly1014fs)	NLRP12 (G1014fs +2 more)	Deletion (frameshift variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 469094	NM_144687.4(NLRP12):c.3038C>A (p.Thr1013Lys)	NLRP12 (T1013K +2 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance

<< First< Prev

Page of 13