C0028754 - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 631526	NM_015047.3(EMC1):c.313C>T (p.Arg105Ter)	EMC1 (R105* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1339332	NM_021969.3(NR0B2):c.712C>T (p.Arg238Cys)	NR0B2, NUDC (R238C)	Single nucleotide variant (missense variant)	NR0B2-related condition +2 more	GUncertain significance
Select item 1803829	NM_021969.3(NR0B2):c.528C>A (p.Asn176Lys)	NR0B2, NUDC (N176K)	Single nucleotide variant (missense variant)	Obesity	GUncertain significance
Select item 782367	NM_021969.3(NR0B2):c.473G>A (p.Ser158Asn)	NR0B2, NUDC (S158N)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 636298	NM_021969.3(NR0B2):c.293_301delinsAC (p.Leu98fs)	NR0B2, NUDC (L98fs)	Indel (frameshift variant)	Obesity	GLikely pathogenic
Select item 636300	NM_021969.3(NR0B2):c.227del (p.Phe76fs)	NR0B2, NUDC (F76fs)	Deletion (frameshift variant)	Obesity	GPathogenic
Select item 397631	NM_001365999.1(SZT2):c.9893G>A (p.Arg3298His)	SZT2, SZT2-AS1 (R3241H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Generalized epilepsy +2 more	GUncertain significance
Select item 36465	NM_002303.6(LEPR):c.2880C>G (p.Asn960Lys)	LEPR (N960K)	Single nucleotide variant (missense variant)	Obesity	GLikely pathogenic
Select item 36466	NM_002303.6(LEPR):c.3417A>G (p.Ala1139=)	LEPR	Single nucleotide variant (synonymous variant)	LEPR-related condition +5 more	GConflicting classifications of pathogenicity
Select item 36467	NM_002303.6(LEPR):c.3423C>T (p.Tyr1141=)	LEPR	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 631528	NM_015100.4(POGZ):c.3638G>A (p.Trp1213Ter)	POGZ (W1151* +4 more)	Single nucleotide variant (nonsense)	Obesity	GLikely pathogenic
Select item 812169	NC_000002.12:g.634905T>C		Single nucleotide variant	Obesity	Grisk factor
Select item 335351	NM_000939.4(POMC):c.*120A>G	POMC	Single nucleotide variant (3 prime UTR variant)	Obesity due to pro-opiomelanocortin deficiency +1 more	GUncertain significance
Select item 335352	NM_000939.4(POMC):c.*63C>T	POMC	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 898575	NM_000939.4(POMC):c.801G>A (p.Glu267=)	POMC	Single nucleotide variant (synonymous variant)	POMC-related condition +2 more	GConflicting classifications of pathogenicity
Select item 898576	NM_000939.4(POMC):c.662A>G (p.Tyr221Cys)	POMC (Y221C)	Single nucleotide variant (missense variant)	POMC-related condition +3 more	GConflicting classifications of pathogenicity
Select item 898577	NM_000939.4(POMC):c.642G>A (p.Glu214=)	POMC	Single nucleotide variant (synonymous variant)	Obesity +1 more	GUncertain significance
Select item 211936	NM_000939.4(POMC):c.641A>G (p.Glu214Gly)	POMC (E214G)	Single nucleotide variant (missense variant)	POMC-related condition +3 more	GLikely benign
Select item 895579	NM_000939.4(POMC):c.638C>T (p.Ala213Val)	POMC (A213V)	Single nucleotide variant (missense variant)	Obesity due to pro-opiomelanocortin deficiency +2 more	GUncertain significance
Select item 420163	NM_000939.4(POMC):c.599_604dup (p.Ala201_Gln202insArgAla)	POMC	Duplication (inframe_insertion)	not provided +2 more	GUncertain significance
Select item 335354	NM_000939.4(POMC):c.585C>T (p.Ala195=)	POMC	Single nucleotide variant (synonymous variant)	Obesity due to pro-opiomelanocortin deficiency +2 more	GBenign
Select item 895580	NM_000939.4(POMC):c.498C>T (p.Asp166=)	POMC	Single nucleotide variant (synonymous variant)	Obesity due to pro-opiomelanocortin deficiency +2 more	GConflicting classifications of pathogenicity
Select item 895581	NM_000939.4(POMC):c.491C>T (p.Ala164Val)	POMC (A164V)	Single nucleotide variant (missense variant)	Obesity +1 more	GUncertain significance
Select item 335355	NM_000939.4(POMC):c.474G>T (p.Lys158Asn)	POMC (K158N)	Single nucleotide variant (missense variant)	Obesity due to pro-opiomelanocortin deficiency +1 more	GUncertain significance
Select item 1368345	NM_000939.4(POMC):c.434G>A (p.Arg145His)	POMC (R145H)	Single nucleotide variant (missense variant)	Obesity +2 more	GUncertain significance
Select item 631855	NM_000939.4(POMC):c.433C>T (p.Arg145Cys)	POMC (R145C)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 451178	NM_000939.4(POMC):c.429C>G (p.His143Gln)	POMC (H143Q)	Single nucleotide variant (missense variant)	POMC-related condition +3 more	GUncertain significance
Select item 896986	NM_000939.4(POMC):c.394C>G (p.Pro132Ala)	POMC (P132A)	Single nucleotide variant (missense variant)	Obesity +4 more	GConflicting classifications of pathogenicity
Select item 728820	NM_000939.4(POMC):c.346C>T (p.Leu116=)	POMC	Single nucleotide variant (synonymous variant)	Obesity +3 more	GBenign/Likely benign
Select item 592127	NM_001035256.2(POMC):c.297_298ins90 (p.?)	POMC	Insertion	Obesity	GUncertain significance
Select item 896987	NM_000939.4(POMC):c.283A>G (p.Ser95Gly)	POMC (S95G)	Single nucleotide variant (missense variant)	Obesity +1 more	GUncertain significance
Select item 335356	NM_000939.4(POMC):c.282C>T (p.Ser94=)	POMC	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 710881	NM_000939.4(POMC):c.261C>A (p.Phe87Leu)	POMC (F87L)	Single nucleotide variant (missense variant)	Obesity due to pro-opiomelanocortin deficiency +3 more	GConflicting classifications of pathogenicity
Select item 1339321	NM_000939.4(POMC):c.180del (p.Met60fs)	LOC129933280, POMC (M60fs)	Deletion (frameshift variant)	Obesity	GLikely pathogenic
Select item 335357	NM_000939.4(POMC):c.158A>G (p.Asp53Gly)	LOC129933280, POMC (D53G)	Single nucleotide variant (missense variant)	POMC-related condition +3 more	GConflicting classifications of pathogenicity
Select item 897472	NM_000939.4(POMC):c.116C>T (p.Thr39Met)	POMC (T39M)	Single nucleotide variant (missense variant)	POMC-related condition +2 more	GUncertain significance
Select item 983342	NM_000939.4(POMC):c.26C>T (p.Ser9Leu)	POMC (S9L)	Single nucleotide variant (missense variant)	POMC-related condition +2 more	GUncertain significance
Select item 335358	NM_000939.4(POMC):c.18C>T (p.Cys6=)	POMC	Single nucleotide variant (synonymous variant)	Obesity +2 more	GConflicting classifications of pathogenicity
Select item 335359	NM_000939.4(POMC):c.4C>T (p.Pro2Ser)	POMC (P2S)	Single nucleotide variant (missense variant)	Obesity due to pro-opiomelanocortin deficiency +1 more	GUncertain significance
Select item 13355	NM_000939.4(POMC):c.-11C>A	POMC	Single nucleotide variant (5 prime UTR variant)	Obesity due to pro-opiomelanocortin deficiency +2 more	GPathogenic
Select item 335360	NM_000939.4(POMC):c.-20-904T>C	POMC	Single nucleotide variant (intron variant)	Obesity due to pro-opiomelanocortin deficiency +1 more	GUncertain significance
Select item 335361	NM_000939.4(POMC):c.-20-906C>T	POMC	Single nucleotide variant (intron variant)	Obesity due to pro-opiomelanocortin deficiency +1 more	GUncertain significance
Select item 335362	NM_001035256.2(POMC):c.-203A>G	LOC108167315, POMC	Single nucleotide variant	Obesity due to pro-opiomelanocortin deficiency +1 more	GConflicting classifications of pathogenicity
Select item 895643	NM_001035256.2(POMC):c.-263C>A	LOC108167315, POMC	Single nucleotide variant	Obesity due to pro-opiomelanocortin deficiency +1 more	GUncertain significance
Select item 1332907	NM_022552.5(DNMT3A):c.1647C>A (p.Cys549Ter)	DNMT3A (C326* +3 more)	Single nucleotide variant (nonsense +1 more)	Macrocephaly +6 more	GPathogenic
Select item 631527	NM_001190274.2(FBXO11):c.440C>G (p.Ser147Ter)	FBXO11 (S63* +1 more)	Single nucleotide variant (nonsense)	Obesity	GLikely pathogenic
Select item 194930	NM_001330078.2(NRXN1):c.3499C>T (p.Arg1167Ter)	NRXN1 (R1207* +10 more)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 598954	NM_003466.4(PAX8):c.1011del (p.Val339fs)	PAX8 (V339fs +1 more)	Deletion (frameshift variant +1 more)	Obesity +4 more	GUncertain significance
Select item 503736	NM_001165963.4(SCN1A):c.971ATT[1] (p.Tyr325del)	SCN1A (Y325del)	Microsatellite (inframe_deletion +2 more)	Intellectual disability +3 more	GPathogenic/Likely pathogenic
Select item 5063	NM_016362.5(GHRL):c.269A>T (p.Gln90Leu)	GHRL, GHRLOS (Q90L +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1696658	NM_016362.5(GHRL):c.255del (p.Lys85fs)	GHRL, GHRLOS (K34fs +4 more)	Deletion (frameshift variant)	Obesity	GUncertain significance
Select item 5062	NM_016362.5(GHRL):c.214C>A (p.Leu72Met)	GHRL, GHRLOS (L72M +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 5061	NM_016362.5(GHRL):c.152G>A (p.Arg51Gln)	GHRL, GHRLOS (R51Q +3 more)	Single nucleotide variant (missense variant +1 more)	Obesity +1 more	Grisk factor
Select item 342919	NM_138711.6(PPARG):c.-8-28133C>T	PPARG	Single nucleotide variant (5 prime UTR variant +1 more)	Obesity +2 more	GBenign/Likely benign
Select item 130019	NM_138711.6(PPARG):c.-8-28078C>G	PPARG (P12A)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 930372	NM_138711.6(PPARG):c.46_58del (p.Ser17fs)	PPARG (S19fs +2 more)	Deletion (frameshift variant +1 more)	Obesity	GLikely pathogenic
Select item 901544	NM_138711.6(PPARG):c.56A>C (p.Asp19Ala)	PPARG (D21A +2 more)	Single nucleotide variant (missense variant +1 more)	Obesity +2 more	GUncertain significance
Select item 436395	NM_138711.6(PPARG):c.145G>A (p.Glu49Lys)	PPARG (E51K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 342920	NM_138711.6(PPARG):c.150C>T (p.Asp50=)	PPARG	Single nucleotide variant (synonymous variant +1 more)	Obesity +4 more	GConflicting classifications of pathogenicity
Select item 342921	NM_138711.6(PPARG):c.198C>T (p.Asp66=)	PPARG	Single nucleotide variant (synonymous variant +1 more)	Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension +2 more	GUncertain significance
Select item 342922	NM_138711.6(PPARG):c.348T>C (p.Ala116=)	PPARG	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 342923	NM_138711.6(PPARG):c.391-3C>T	PPARG	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 901054	NM_138711.6(PPARG):c.393T>C (p.Gly131=)	PPARG	Single nucleotide variant (synonymous variant +1 more)	PPARG-related familial partial lipodystrophy +3 more	GConflicting classifications of pathogenicity
Select item 342924	NM_138711.6(PPARG):c.417G>A (p.Leu139=)	PPARG	Single nucleotide variant (synonymous variant +1 more)	Obesity +4 more	GConflicting classifications of pathogenicity
Select item 901055	NM_138711.6(PPARG):c.431A>G (p.Asp144Gly)	PPARG (D146G +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 901923	NM_138711.6(PPARG):c.629G>A (p.Arg210Gln)	LOC114803475, PPARG (R240Q +2 more)	Single nucleotide variant (missense variant +1 more)	PPARG-related familial partial lipodystrophy +5 more	GConflicting classifications of pathogenicity
Select item 343047	NM_138711.6(PPARG):c.801C>G (p.Pro267=)	PPARG	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign
Select item 343048	NM_138711.6(PPARG):c.1116C>A (p.Phe372Leu)	PPARG (F402L +2 more)	Single nucleotide variant (missense variant +1 more)	Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension +2 more	GUncertain significance
Select item 902829	NM_138711.6(PPARG):c.1224A>G (p.Gln408=)	PPARG	Single nucleotide variant (3 prime UTR variant +1 more)	Obesity +2 more	GConflicting classifications of pathogenicity
Select item 343049	NM_138711.6(PPARG):c.1281A>G (p.Ser427=)	PPARG	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +5 more	GBenign/Likely benign
Select item 8139	NM_138711.6(PPARG):c.1341C>T (p.His447=)	PPARG	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 343050	NM_138711.6(PPARG):c.1362C>T (p.Ile454=)	PPARG	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +5 more	GBenign/Likely benign
Select item 343051	NM_138711.6(PPARG):c.1419C>T (p.Asp473=)	PPARG	Single nucleotide variant (3 prime UTR variant +1 more)	PPARG-related familial partial lipodystrophy +2 more	GUncertain significance
Select item 632552	NC_000003.12:g.41359534_41821951del	LOC126806660, ULK4	Deletion	Obesity	GUncertain significance
Select item 6993	NM_004291.4(CARTPT):c.183G>C (p.Leu61Phe)	CARTPT (L61F)	Single nucleotide variant (missense variant)	Obesity	GUncertain significance
Select item 523302	GRCh37/hg19 5p14.3-14.2(chr5:22308420-24492723)	PRDM9, CDH12 +2 more	Copy number gain	Global developmental delay +4 more	GUncertain significance
Select item 812171	NM_017774.3(CDKAL1):c.371+11642G>C	CDKAL1	Single nucleotide variant (intron variant)	Obesity	Grisk factor
Select item 1285457	NM_005068.3(SIM1):c.817G>A (p.Asp273Asn)	SIM1 (D273N)	Single nucleotide variant (missense variant)	Obesity	GUncertain significance
Select item 1169635	NM_006208.3(ENPP1):c.313+8_313+9dup	ENPP1	Duplication (intron variant)	not provided +6 more	GBenign/Likely benign
Select item 1669974	NM_006208.3(ENPP1):c.313+8_313+9insTTGTGTGT	ENPP1	Insertion (intron variant)	Type 2 diabetes mellitus +5 more	GLikely benign
Select item 930370	NM_006208.3(ENPP1):c.313+11_313+15del	ENPP1	Deletion (intron variant)	Hypophosphatemic rickets, autosomal recessive, 2 +4 more	GBenign
Select item 13589	NM_006208.3(ENPP1):c.517A>C (p.Lys173Gln)	ENPP1 (K173Q)	Single nucleotide variant (missense variant)	ENPP1-related condition +6 more	GBenign
Select item 1409337	NM_006208.3(ENPP1):c.595A>G (p.Asn199Asp)	ENPP1 (N199D)	Single nucleotide variant (missense variant)	Hypopigmentation-punctate palmoplantar keratoderma syndrome +5 more	GUncertain significance
Select item 905829	NM_006208.3(ENPP1):c.614C>A (p.Ala205Glu)	ENPP1 (A205E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GUncertain significance
Select item 953229	NM_006208.3(ENPP1):c.626C>T (p.Thr209Met)	ENPP1 (T209M)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 906337	NM_006208.3(ENPP1):c.685G>A (p.Gly229Ser)	ENPP1 (G229S)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 717550	NM_006208.3(ENPP1):c.750G>A (p.Pro250=)	ENPP1	Single nucleotide variant (synonymous variant)	not provided +5 more	GLikely benign
Select item 1674352	NM_006208.3(ENPP1):c.795+12A>G	ENPP1	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus +5 more	GLikely benign
Select item 783000	NM_006208.3(ENPP1):c.1274-5C>T	ENPP1	Single nucleotide variant (intron variant)	not provided +5 more	GLikely benign
Select item 1397275	NM_006208.3(ENPP1):c.1352A>G (p.Tyr451Cys)	ENPP1 (Y451C)	Single nucleotide variant (missense variant)	Hypopigmentation-punctate palmoplantar keratoderma syndrome +5 more	GConflicting classifications of pathogenicity
Select item 846125	NM_006208.3(ENPP1):c.1437+3_1437+6del	ENPP1	Deletion (splice donor variant)	Hypopigmentation-punctate palmoplantar keratoderma syndrome +5 more	GUncertain significance
Select item 284959	NM_006208.3(ENPP1):c.1437+9_1437+12del	ENPP1	Deletion (intron variant)	not provided +6 more	GBenign/Likely benign
Select item 968927	NM_006208.3(ENPP1):c.1699A>G (p.Ile567Val)	ENPP1 (I567V)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 355344	NM_006208.3(ENPP1):c.1798T>C (p.Tyr600His)	ENPP1 (Y600H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GUncertain significance
Select item 355346	NM_006208.3(ENPP1):c.2089G>A (p.Val697Met)	ENPP1 (V697M)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +5 more	GUncertain significance
Select item 355347	NM_006208.3(ENPP1):c.2101-11del	ENPP1	Deletion (intron variant)	Hypophosphatemic Rickets, Recessive +5 more	GBenign
Select item 355352	NM_006208.3(ENPP1):c.2236A>C (p.Asn746His)	ENPP1 (N746H)	Single nucleotide variant (missense variant)	ENPP1-related condition +6 more	GConflicting classifications of pathogenicity
Select item 1442096	NM_006208.3(ENPP1):c.2252G>A (p.Gly751Glu)	ENPP1 (G751E)	Single nucleotide variant (missense variant)	Arterial calcification, generalized, of infancy, 1 +5 more	GUncertain significance
Select item 1529764	NM_006208.3(ENPP1):c.2311+8A>G	ENPP1	Single nucleotide variant (intron variant)	not provided +5 more	GLikely benign
Select item 561005	NM_006208.3(ENPP1):c.2330A>G (p.His777Arg)	ENPP1 (H777R)	Single nucleotide variant (missense variant)	Arterial calcification, generalized, of infancy, 1 +6 more	GUncertain significance

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