ClinVar for MedGen (Select 18127) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2571627	NM_001024383.2(NAV3):c.664C>T (p.Gln222Ter)	NAV3 (Q222*)	Single nucleotide variant (nonsense)	Broad eyebrow +6 more	GUncertain significance
Select item 2500302	NM_080552.3(SLC32A1):c.1121T>C (p.Leu374Pro)	SLC32A1 (L374P)	Single nucleotide variant (missense variant)	Obesity +2 more	GUncertain significance
Select item 2499590	NM_004176.5(SREBF1):c.2605G>A (p.Val869Ile)	SREBF1 (V725I +11 more)	Single nucleotide variant (missense variant +1 more)	Obesity +1 more	GConflicting classifications of pathogenicity
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 1708436	NM_019888.3(MC3R):c.134T>C (p.Phe45Ser)	MC3R (F45S)	Single nucleotide variant (missense variant)	MC3R-related condition +1 more	GUncertain significance
Select item 1708341	NM_019888.3(MC3R):c.37A>G (p.Thr13Ala)	MC3R (T13A)	Single nucleotide variant (missense variant)	Obesity +1 more	GUncertain significance
Select item 1696658	NM_016362.5(GHRL):c.255del (p.Lys85fs)	GHRL, GHRLOS (K34fs +4 more)	Deletion (frameshift variant)	Obesity	GUncertain significance
Select item 1693543	NM_005912.3(MC4R):c.272T>G (p.Met91Arg)	MC4R (M91R)	Single nucleotide variant (missense variant)	Obesity	GLikely pathogenic
Select item 1693542	NM_005912.3(MC4R):c.127C>A (p.Gln43Lys)	MC4R (Q43K)	Single nucleotide variant (missense variant)	Obesity	GLikely pathogenic
Select item 1693541	NM_019888.3(MC3R):c.151G>C (p.Val51Leu)	MC3R (V51L)	Single nucleotide variant (missense variant)	Obesity	GLikely benign
Select item 1684520	NM_001375912.1(ZNF532):c.3444dup (p.Val1149fs)	LOC126862765, ZNF532 (V1086fs +6 more)	Duplication (frameshift variant +1 more)	Obesity +1 more	GUncertain significance
Select item 1684513	NM_173814.6(PRTG):c.1622C>G (p.Pro541Arg)	PRTG (P541R)	Single nucleotide variant (missense variant)	Obesity +1 more	GUncertain significance
Select item 1684498	NM_001256012.3(MYH10):c.2338C>T (p.Arg780Ter)	MYH10 (R749* +3 more)	Single nucleotide variant (nonsense)	Obesity +4 more	GUncertain significance
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 1669974	NM_006208.3(ENPP1):c.313+8_313+9insTTGTGTGT	ENPP1	Insertion (intron variant)	Type 2 diabetes mellitus +5 more	GLikely benign
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 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 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 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 1368345	NM_000939.4(POMC):c.434G>A (p.Arg145His)	POMC (R145H)	Single nucleotide variant (missense variant)	Obesity +2 more	GUncertain significance
Select item 1339332	NM_021969.3(NR0B2):c.712C>T (p.Arg238Cys)	NUDC, NR0B2 (R238C)	Single nucleotide variant (missense variant)	NR0B2-related condition +2 more	GUncertain significance
Select item 1339321	NM_000939.4(POMC):c.180del (p.Met60fs)	LOC129933280, POMC (M60fs)	Deletion (frameshift variant)	Obesity	GLikely pathogenic
Select item 1338787	NM_173598.6(KSR2):c.2512C>T (p.Arg838Cys)	KSR2 (R838C)	Single nucleotide variant (missense variant)	Obesity +5 more	GUncertain significance
Select item 1336999	NM_003356.4(UCP3):c.922C>T (p.Arg308Trp)	UCP3 (R308W)	Single nucleotide variant (missense variant)	UCP3-related condition +3 more	GConflicting classifications of pathogenicity
Select item 1336776	NM_003356.4(UCP3):c.386T>C (p.Met129Thr)	UCP3 (M129T)	Single nucleotide variant (missense variant)	Obesity +1 more	GUncertain significance
Select item 1336091	NM_003356.4(UCP3):c.63C>G (p.Gly21=)	UCP3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
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 1330180	GRCh37/hg19 12p13.33-13.31(chr12:146240-8330229)x3	ACRBP, ACSM4 +106 more	Copy number gain	Small hand +6 more	GPathogenic
Select item 1330178	GRCh37/hg19 8p23.3-23.1(chr8:10501-7214947)x1	AGPAT5, ANGPT2 +22 more	Copy number loss	Small hand +6 more	GPathogenic
Select item 1330175	GRCh37/hg19 16p12.2(chr16:21751992-22546976)x1	UQCRC2, VWA3A +9 more	Copy number loss	Abnormal foot morphology +4 more	GPathogenic
Select item 1285457	NM_005068.3(SIM1):c.817G>A (p.Asp273Asn)	SIM1 (D273N)	Single nucleotide variant (missense variant)	Obesity	GUncertain significance
Select item 1179191	NM_006208.3(ENPP1):c.2344C>T (p.Arg782Ter)	ENPP1 (R782*)	Single nucleotide variant (nonsense)	ENPP1-Related Disorders +6 more	GPathogenic
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 1101510	NM_006208.3(ENPP1):c.2445-5T>C	ENPP1	Single nucleotide variant (intron variant)	ENPP1-related condition +6 more	GLikely benign
Select item 1050424	NM_000025.3(ADRB3):c.1013A>G (p.Asn338Ser)	ADRB3 (N338S)	Single nucleotide variant (missense variant)	Obesity +1 more	GUncertain significance
Select item 1050272	NM_000025.3(ADRB3):c.452A>G (p.Lys151Arg)	ADRB3 (K151R)	Single nucleotide variant (missense variant)	Obesity +1 more	GUncertain significance
Select item 1049092	NM_001138.2(AGRP):c.264A>G (p.Val88=)	AGRP, ATP6V0D1-DT	Single nucleotide variant (synonymous variant)	Obesity	GUncertain significance
Select item 1047892	GRCh37/hg19 19p13.3(chr19:3976203-4345430)	STAP2, TMIGD2 +12 more	Copy number loss	Obesity +1 more	GPathogenic
Select item 1029698	NM_003356.4(UCP3):c.490G>A (p.Asp164Asn)	UCP3 (D164N)	Single nucleotide variant (missense variant)	UCP3-related condition +1 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 981928	NM_001709.5(BDNF):c.557G>A (p.Cys186Tyr)	BDNF, BDNF-AS (C186Y +4 more)	Single nucleotide variant (missense variant)	Obesity	GLikely pathogenic
Select item 976089	NM_014974.3(DIP2C):c.262C>T (p.Arg88Trp)	DIP2C (R88W)	Single nucleotide variant (missense variant)	Obesity +1 more	GUncertain significance
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 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 930372	NM_138711.6(PPARG):c.46_58del (p.Ser17fs)	PPARG (S19fs +2 more)	Deletion (frameshift variant +1 more)	Obesity	GLikely pathogenic
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 917498	NM_005912.3(MC4R):c.[105C>A;110A>T]	MC4R (Y35* +1 more)	Single nucleotide variant (nonsense +1 more)	Obesity	GPathogenic
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 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 904142	NM_006208.3(ENPP1):c.*128C>T	ENPP1	Single nucleotide variant (3 prime UTR variant)	Arterial calcification, generalized, of infancy, 1 +4 more	GUncertain significance
Select item 904076	NM_006208.3(ENPP1):c.2380G>A (p.Val794Ile)	ENPP1 (V794I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 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 901923	NM_138711.6(PPARG):c.629G>A (p.Arg210Gln)	LOC114803475, PPARG (R240Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
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 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 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 898577	NM_000939.4(POMC):c.642G>A (p.Glu214=)	POMC	Single nucleotide variant (synonymous variant)	Obesity +1 more	GUncertain significance
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 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 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 896987	NM_000939.4(POMC):c.283A>G (p.Ser95Gly)	POMC (S95G)	Single nucleotide variant (missense variant)	Obesity +1 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 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 895581	NM_000939.4(POMC):c.491C>T (p.Ala164Val)	POMC (A164V)	Single nucleotide variant (missense variant)	Obesity +1 more	GUncertain significance
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 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 892156	NM_005912.3(MC4R):c.373A>G (p.Ile125Val)	MC4R (I125V)	Single nucleotide variant (missense variant)	Obesity	GUncertain significance
Select item 892155	NM_005912.3(MC4R):c.405A>C (p.Ala135=)	MC4R	Single nucleotide variant (synonymous variant)	Obesity +1 more	GConflicting classifications of pathogenicity
Select item 892154	NM_005912.3(MC4R):c.534G>A (p.Thr178=)	MC4R	Single nucleotide variant (synonymous variant)	Obesity	GUncertain significance
Select item 892153	NM_005912.3(MC4R):c.645G>A (p.Met215Ile)	MC4R (M215I)	Single nucleotide variant (missense variant)	Obesity	GUncertain significance
Select item 890987	NM_005912.3(MC4R):c.-360G>A	MC4R	Single nucleotide variant (5 prime UTR variant)	Obesity	GUncertain significance
Select item 890986	NM_005912.3(MC4R):c.-359C>A	MC4R	Single nucleotide variant (5 prime UTR variant)	Obesity	GUncertain significance
Select item 890985	NM_005912.3(MC4R):c.-295A>G	MC4R	Single nucleotide variant (5 prime UTR variant)	Obesity	GUncertain significance
Select item 890984	NM_005912.3(MC4R):c.-263A>G	MC4R	Single nucleotide variant (5 prime UTR variant)	Obesity	GUncertain significance
Select item 890920	NM_005912.3(MC4R):c.655G>T (p.Ala219Ser)	MC4R (A219S)	Single nucleotide variant (missense variant)	Obesity	GUncertain significance
Select item 890919	NM_005912.3(MC4R):c.815C>G (p.Pro272Arg)	MC4R (P272R)	Single nucleotide variant (missense variant)	Obesity +1 more	GUncertain significance
Select item 890918	NM_005912.3(MC4R):c.836G>A (p.Cys279Tyr)	MC4R (C279Y)	Single nucleotide variant (missense variant)	Obesity	GUncertain significance
Select item 890917	NM_005912.3(MC4R):c.929G>A (p.Arg310Lys)	MC4R (R310K)	Single nucleotide variant (missense variant)	Obesity	GUncertain significance
Select item 890416	NM_005912.3(MC4R):c.-216C>T	MC4R	Single nucleotide variant (5 prime UTR variant)	Obesity	GBenign
Select item 890415	NM_005912.3(MC4R):c.-176A>G	MC4R	Single nucleotide variant (5 prime UTR variant)	Obesity	GUncertain significance
Select item 890414	NM_005912.3(MC4R):c.-121G>A	MC4R	Single nucleotide variant (5 prime UTR variant)	Obesity +1 more	GUncertain significance
Select item 890413	NM_005912.3(MC4R):c.-64G>A	MC4R	Single nucleotide variant (5 prime UTR variant)	Obesity	GUncertain significance
Select item 890361	NM_005912.3(MC4R):c.949A>T (p.Ile317Phe)	MC4R (I317F)	Single nucleotide variant (missense variant)	Obesity	GUncertain significance
Select item 888710	NM_005912.3(MC4R):c.-59G>A	MC4R	Single nucleotide variant (5 prime UTR variant)	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 +1 more	GUncertain significance
Select item 888709	NM_005912.3(MC4R):c.15C>T (p.Thr5=)	MC4R	Single nucleotide variant (synonymous variant)	MC4R-related condition +1 more	GUncertain significance
Select item 888708	NM_005912.3(MC4R):c.21T>C (p.Arg7=)	MC4R	Single nucleotide variant (synonymous variant)	Obesity	GUncertain significance
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 812171	NM_017774.3(CDKAL1):c.371+11642G>C	CDKAL1	Single nucleotide variant (intron variant)	Obesity	Grisk factor
Select item 812170	NC_000012.12:g.49853685G>A		Single nucleotide variant	Obesity	Grisk factor
Select item 812169	NC_000002.12:g.634905T>C		Single nucleotide variant	Obesity	Grisk factor
Select item 800838	NM_003356.4(UCP3):c.365C>T (p.Ala122Val)	UCP3 (A122V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 773827	NM_003356.4(UCP3):c.72C>T (p.Ala24=)	UCP3	Single nucleotide variant (synonymous variant)	UCP3-related condition +2 more	GBenign/Likely benign
Select item 749502	NM_005912.3(MC4R):c.468G>A (p.Gln156=)	MC4R	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 738391	NM_003356.4(UCP3):c.356G>A (p.Arg119Gln)	UCP3 (R119Q)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
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 723534	NM_003356.4(UCP3):c.127-7C>T	UCP3	Single nucleotide variant (intron variant)	Obesity +2 more	GBenign/Likely benign
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 712327	NM_005912.3(MC4R):c.335C>T (p.Thr112Met)	MC4R (T112M)	Single nucleotide variant (missense variant)	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 +2 more	GConflicting classifications of pathogenicity

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