ClinVar for Gene (Select 3953) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3359113	NM_002303.6(LEPR):c.1967dup (p.Glu657fs)	LEPR (E657fs)	Duplication (frameshift variant)	Obesity due to leptin receptor gene deficiency	GLikely pathogenic
Select item 3358769	NM_002303.6(LEPR):c.2271C>T (p.Ser757=)	LEPR	Single nucleotide variant (synonymous variant)	LEPR-related disorder	GLikely benign
Select item 3358491	NM_002303.6(LEPR):c.522G>A (p.Leu174=)	LEPR	Single nucleotide variant (synonymous variant)	LEPR-related disorder	GLikely benign
Select item 3358490	NM_002303.6(LEPR):c.3201C>T (p.Phe1067=)	LEPR	Single nucleotide variant (synonymous variant)	LEPR-related disorder	GLikely benign
Select item 3358455	NM_002303.6(LEPR):c.704-8del	LEPR	Deletion (intron variant)	LEPR-related disorder	GLikely benign
Select item 3358384	NM_002303.6(LEPR):c.587G>A (p.Cys196Tyr)	LEPR (C196Y)	Single nucleotide variant (missense variant)	LEPR-related disorder	GUncertain significance
Select item 3358355	NM_002303.6(LEPR):c.183T>C (p.Asn61=)	LEPR	Single nucleotide variant (synonymous variant)	LEPR-related disorder	GLikely benign
Select item 3358151	NM_002303.6(LEPR):c.2491+3A>G	LEPR	Single nucleotide variant (intron variant)	LEPR-related disorder	GUncertain significance
Select item 3358117	NM_002303.6(LEPR):c.2674-3034G>C	LEPR	Single nucleotide variant (synonymous variant +1 more)	LEPR-related disorder	GLikely benign
Select item 3358079	NM_002303.6(LEPR):c.2592C>T (p.His864=)	LEPR	Single nucleotide variant (synonymous variant)	LEPR-related disorder	GLikely benign
Select item 3358029	NM_002303.6(LEPR):c.3243G>A (p.Gly1081=)	LEPR	Single nucleotide variant (synonymous variant)	LEPR-related disorder	GLikely benign
Select item 3357986	NM_002303.6(LEPR):c.2745T>A (p.Pro915=)	LEPR	Single nucleotide variant (synonymous variant)	LEPR-related disorder	GLikely benign
Select item 3357960	NM_002303.6(LEPR):c.2634C>G (p.Pro878=)	LEPR	Single nucleotide variant (synonymous variant)	LEPR-related disorder	GLikely benign
Select item 3357923	NM_002303.6(LEPR):c.2674-5826A>T	LEPR (D946V)	Single nucleotide variant (missense variant +1 more)	LEPR-related disorder	GUncertain significance
Select item 3357544	NM_002303.6(LEPR):c.2841T>C (p.Asp947=)	LEPR	Single nucleotide variant (synonymous variant)	LEPR-related disorder	GLikely benign
Select item 3357511	NM_002303.6(LEPR):c.470A>C (p.Tyr157Ser)	LEPR (Y157S)	Single nucleotide variant (missense variant)	LEPR-related disorder	GUncertain significance
Select item 3357470	NM_002303.6(LEPR):c.2487T>C (p.Thr829=)	LEPR	Single nucleotide variant (synonymous variant)	LEPR-related disorder	GLikely benign
Select item 3357440	NM_002303.6(LEPR):c.1563A>G (p.Ser521=)	LEPR	Single nucleotide variant (synonymous variant)	LEPR-related disorder	GLikely benign
Select item 3357437	NM_002303.6(LEPR):c.208C>T (p.Pro70Ser)	LEPR (P70S)	Single nucleotide variant (missense variant)	LEPR-related disorder	GUncertain significance
Select item 3357239	NM_002303.6(LEPR):c.968G>A (p.Ser323Asn)	LEPR (S323N)	Single nucleotide variant (missense variant)	LEPR-related disorder	GUncertain significance
Select item 3357196	NM_002303.6(LEPR):c.1205G>A (p.Arg402Gln)	LEPR (R402Q)	Single nucleotide variant (missense variant)	LEPR-related disorder	GUncertain significance
Select item 3357163	NM_002303.6(LEPR):c.2674-3034G>A	LEPR	Single nucleotide variant (synonymous variant +1 more)	LEPR-related disorder	GLikely benign
Select item 3357095	NM_002303.6(LEPR):c.2971A>G (p.Ser991Gly)	LEPR (S991G)	Single nucleotide variant (missense variant)	LEPR-related disorder	GUncertain significance
Select item 3357044	NM_002303.6(LEPR):c.3G>A (p.Met1Ile)	LEPR (M1I)	Single nucleotide variant (missense variant +1 more)	LEPR-related disorder	GLikely pathogenic
Select item 3357032	NM_002303.6(LEPR):c.3134A>G (p.Asn1045Ser)	LEPR (N1045S)	Single nucleotide variant (missense variant)	LEPR-related disorder	GUncertain significance
Select item 3357006	NM_002303.6(LEPR):c.2871C>T (p.Asp957=)	LEPR	Single nucleotide variant (synonymous variant)	LEPR-related disorder	GLikely benign
Select item 3356954	NM_002303.6(LEPR):c.2818G>C (p.Val940Leu)	LEPR (V940L)	Single nucleotide variant (missense variant)	LEPR-related disorder	GUncertain significance
Select item 3356817	NM_002303.6(LEPR):c.1500C>T (p.Phe500=)	LEPR	Single nucleotide variant (synonymous variant)	LEPR-related disorder	GLikely benign
Select item 3356697	NM_002303.6(LEPR):c.2395+10C>A	LEPR	Single nucleotide variant (intron variant)	LEPR-related disorder	GLikely benign
Select item 3356569	NM_002303.6(LEPR):c.3398C>G (p.Ser1133Cys)	LEPR (S1133C)	Single nucleotide variant (missense variant)	LEPR-related disorder	GUncertain significance
Select item 3356513	NM_002303.6(LEPR):c.2477A>G (p.Asn826Ser)	LEPR (N826S)	Single nucleotide variant (missense variant)	LEPR-related disorder	GUncertain significance
Select item 3356453	NM_002303.6(LEPR):c.347A>C (p.Asn116Thr)	LEPR (N116T)	Single nucleotide variant (missense variant)	LEPR-related disorder	GUncertain significance
Select item 3356444	NM_002303.6(LEPR):c.2190C>A (p.Thr730=)	LEPR, LOC122094844	Single nucleotide variant (synonymous variant)	LEPR-related disorder	GLikely benign
Select item 3356426	NM_002303.6(LEPR):c.412A>C (p.Lys138Gln)	LEPR (K138Q)	Single nucleotide variant (missense variant)	LEPR-related disorder	GUncertain significance
Select item 3355917	NM_002303.6(LEPR):c.2364C>A (p.Ile788=)	LEPR	Single nucleotide variant (synonymous variant)	LEPR-related disorder	GLikely benign
Select item 3355852	NM_002303.6(LEPR):c.619G>A (p.Asp207Asn)	LEPR (D207N)	Single nucleotide variant (missense variant)	LEPR-related disorder	GUncertain significance
Select item 3355802	NM_002303.6(LEPR):c.371-10_371-8del	LEPR	Deletion (intron variant)	LEPR-related disorder	GLikely benign
Select item 3355767	NM_002303.6(LEPR):c.1302C>G (p.Ile434Met)	LEPR (I434M)	Single nucleotide variant (missense variant)	LEPR-related disorder	GUncertain significance
Select item 3355674	NM_002303.6(LEPR):c.2674-5843T>A	LEPR	Single nucleotide variant (synonymous variant +1 more)	LEPR-related disorder	GLikely benign
Select item 3355655	NM_002303.6(LEPR):c.2746G>C (p.Glu916Gln)	LEPR (E916Q)	Single nucleotide variant (missense variant)	LEPR-related disorder	GUncertain significance
Select item 3355555	NM_002303.6(LEPR):c.1230G>A (p.Val410=)	LEPR	Single nucleotide variant (synonymous variant)	LEPR-related disorder	GLikely benign
Select item 3355467	NM_002303.6(LEPR):c.1061A>G (p.Tyr354Cys)	LEPR (Y354C)	Single nucleotide variant (missense variant)	LEPR-related disorder	GUncertain significance
Select item 3355425	NM_002303.6(LEPR):c.3439A>G (p.Thr1147Ala)	LEPR (T1147A)	Single nucleotide variant (missense variant)	LEPR-related disorder	GUncertain significance
Select item 3355398	NM_002303.6(LEPR):c.1647A>G (p.Ile549Met)	LEPR (I549M)	Single nucleotide variant (missense variant)	LEPR-related disorder	GUncertain significance
Select item 3355386	NM_002303.6(LEPR):c.2213-9T>C	LEPR	Single nucleotide variant (intron variant)	LEPR-related disorder	GLikely benign
Select item 3355262	NM_002303.6(LEPR):c.1893A>G (p.Thr631=)	LEPR	Single nucleotide variant (synonymous variant)	LEPR-related disorder	GLikely benign
Select item 3355254	NM_002303.6(LEPR):c.2232C>T (p.Leu744=)	LEPR	Single nucleotide variant (synonymous variant)	LEPR-related disorder	GLikely benign
Select item 3355139	NM_002303.6(LEPR):c.1265A>T (p.Tyr422Phe)	LEPR (Y422F)	Single nucleotide variant (missense variant)	LEPR-related disorder	GLikely pathogenic
Select item 3355085	NM_002303.6(LEPR):c.1303T>C (p.Ser435Pro)	LEPR (S435P)	Single nucleotide variant (missense variant)	LEPR-related disorder	GUncertain significance
Select item 3354980	NM_002303.6(LEPR):c.1601T>A (p.Val534Glu)	LEPR (V534E)	Single nucleotide variant (missense variant)	LEPR-related disorder	GUncertain significance
Select item 3354764	NM_002303.6(LEPR):c.1253G>A (p.Cys418Tyr)	LEPR (C418Y)	Single nucleotide variant (missense variant)	LEPR-related disorder	GUncertain significance
Select item 3354657	NM_002303.6(LEPR):c.3490_3494del (p.Thr1164fs)	LEPR (T1164fs)	Deletion (frameshift variant)	LEPR-related disorder	GUncertain significance
Select item 3354648	NM_002303.6(LEPR):c.1770T>C (p.Asp590=)	LEPR	Single nucleotide variant (synonymous variant)	LEPR-related disorder	GLikely benign
Select item 3354467	NM_002303.6(LEPR):c.2673+3153C>A	LEPR	Single nucleotide variant (synonymous variant +1 more)	LEPR-related disorder	GLikely benign
Select item 3354352	NM_002303.6(LEPR):c.1285+9A>G	LEPR	Single nucleotide variant (intron variant)	LEPR-related disorder	GLikely benign
Select item 3354244	NM_002303.6(LEPR):c.802C>T (p.Gln268Ter)	LEPR (Q268*)	Single nucleotide variant (nonsense)	LEPR-related disorder	GLikely pathogenic
Select item 3354084	NM_002303.6(LEPR):c.2943A>G (p.Gln981=)	LEPR	Single nucleotide variant (synonymous variant)	LEPR-related disorder	GLikely benign
Select item 3354050	NM_002303.6(LEPR):c.704-3A>C	LEPR	Single nucleotide variant (intron variant)	LEPR-related disorder	GLikely benign
Select item 3353957	NM_002303.6(LEPR):c.3355A>G (p.Ser1119Gly)	LEPR (S1119G)	Single nucleotide variant (missense variant)	LEPR-related disorder	GUncertain significance
Select item 3353908	NM_002303.6(LEPR):c.554A>G (p.His185Arg)	LEPR (H185R)	Single nucleotide variant (missense variant)	LEPR-related disorder	GUncertain significance
Select item 3353609	NM_002303.6(LEPR):c.815A>T (p.Lys272Ile)	LEPR (K272I)	Single nucleotide variant (missense variant)	LEPR-related disorder	GUncertain significance
Select item 3353573	NM_002303.6(LEPR):c.2674-5813C>T	LEPR	Single nucleotide variant (synonymous variant +1 more)	LEPR-related disorder	GLikely benign
Select item 3353564	NM_002303.6(LEPR):c.1752+4C>A	LEPR	Single nucleotide variant (intron variant)	LEPR-related disorder	GLikely benign
Select item 3353532	NM_002303.6(LEPR):c.3337A>G (p.Ile1113Val)	LEPR (I1113V)	Single nucleotide variant (missense variant)	LEPR-related disorder	GUncertain significance
Select item 3353402	NM_002303.6(LEPR):c.2498T>C (p.Ile833Thr)	LEPR (I833T)	Single nucleotide variant (missense variant)	LEPR-related disorder	GUncertain significance
Select item 3353366	NM_002303.6(LEPR):c.286_289delinsT (p.Asp96_Arg97delinsTer)	LEPR	Indel (nonsense)	LEPR-related disorder	GLikely pathogenic
Select item 3353357	NM_002303.6(LEPR):c.2674-5951C>T	LEPR	Single nucleotide variant (synonymous variant +1 more)	LEPR-related disorder	GLikely benign
Select item 3353282	NM_002303.6(LEPR):c.1987C>A (p.Leu663Ile)	LEPR (L663I)	Single nucleotide variant (missense variant)	LEPR-related disorder	GUncertain significance
Select item 3353224	NM_002303.6(LEPR):c.179C>T (p.Ser60Leu)	LEPR (S60L)	Single nucleotide variant (missense variant)	LEPR-related disorder	GUncertain significance
Select item 3353124	NM_002303.6(LEPR):c.1286-5A>G	LEPR	Single nucleotide variant (intron variant)	LEPR-related disorder	GUncertain significance
Select item 3352977	NM_002303.6(LEPR):c.12A>G (p.Gln4=)	LEPR	Single nucleotide variant (synonymous variant)	LEPR-related disorder	GLikely benign
Select item 3352908	NM_002303.6(LEPR):c.1975A>C (p.Asn659His)	LEPR (N659H)	Single nucleotide variant (missense variant)	LEPR-related disorder	GUncertain significance
Select item 3352778	NM_002303.6(LEPR):c.26T>C (p.Val9Ala)	LEPR (V9A)	Single nucleotide variant (missense variant)	LEPR-related disorder	GUncertain significance
Select item 3352582	NM_002303.6(LEPR):c.1574C>T (p.Pro525Leu)	LEPR (P525L)	Single nucleotide variant (missense variant)	LEPR-related disorder	GUncertain significance
Select item 3352473	NM_002303.6(LEPR):c.371-33_371-9dup	LEPR	Duplication (intron variant)	LEPR-related disorder	GLikely benign
Select item 3352469	NM_002303.6(LEPR):c.2491+5A>G	LEPR	Single nucleotide variant (intron variant)	LEPR-related disorder	GLikely benign
Select item 3352411	NM_002303.6(LEPR):c.1897G>C (p.Val633Leu)	LEPR (V633L)	Single nucleotide variant (missense variant)	LEPR-related disorder	GUncertain significance
Select item 3352255	NM_002303.6(LEPR):c.1695G>C (p.Glu565Asp)	LEPR (E565D)	Single nucleotide variant (missense variant)	LEPR-related disorder	GUncertain significance
Select item 3352215	NM_002303.6(LEPR):c.1527C>T (p.Tyr509=)	LEPR	Single nucleotide variant (synonymous variant)	LEPR-related disorder	GLikely benign
Select item 3351993	NM_002303.6(LEPR):c.2550T>C (p.Ile850=)	LEPR	Single nucleotide variant (synonymous variant)	LEPR-related disorder	GLikely benign
Select item 3351981	NM_002303.6(LEPR):c.-5G>C	LEPR	Single nucleotide variant (5 prime UTR variant)	LEPR-related disorder	GLikely benign
Select item 3351967	NM_002303.6(LEPR):c.1103G>A (p.Trp368Ter)	LEPR (W368*)	Single nucleotide variant (nonsense)	LEPR-related disorder	GPathogenic
Select item 3351929	NM_002303.6(LEPR):c.861T>C (p.Ile287=)	LEPR	Single nucleotide variant (synonymous variant)	LEPR-related disorder	GLikely benign
Select item 3351645	NM_002303.6(LEPR):c.127A>G (p.Thr43Ala)	LEPR (T43A)	Single nucleotide variant (missense variant)	LEPR-related disorder	GUncertain significance
Select item 3351586	NM_002303.6(LEPR):c.1776del (p.Lys592fs)	LEPR (K592fs)	Deletion (frameshift variant)	LEPR-related disorder	GPathogenic
Select item 3351391	NM_002303.6(LEPR):c.703+10G>A	LEPR	Single nucleotide variant (intron variant)	LEPR-related disorder	GLikely benign
Select item 3351282	NM_002303.6(LEPR):c.371-16_371-9del	LEPR	Deletion (intron variant)	LEPR-related disorder	GLikely benign
Select item 3351172	NM_002303.6(LEPR):c.264C>T (p.His88=)	LEPR	Single nucleotide variant (synonymous variant)	LEPR-related disorder	GLikely benign
Select item 3351098	NM_002303.6(LEPR):c.2674-5955A>G	LEPR (H903R)	Single nucleotide variant (missense variant +1 more)	LEPR-related disorder	GUncertain significance
Select item 3351079	NM_002303.6(LEPR):c.2340T>C (p.Asp780=)	LEPR	Single nucleotide variant (synonymous variant)	LEPR-related disorder	GLikely benign
Select item 3351054	NM_002303.6(LEPR):c.1990T>A (p.Trp664Arg)	LEPR (W664R)	Single nucleotide variant (missense variant)	LEPR-related disorder	GLikely pathogenic
Select item 3350835	NM_002303.6(LEPR):c.2794G>C (p.Asp932His)	LEPR (D932H)	Single nucleotide variant (missense variant)	LEPR-related disorder	GUncertain significance
Select item 3350772	NM_002303.6(LEPR):c.2674-5810C>T	LEPR	Single nucleotide variant (synonymous variant +1 more)	LEPR-related disorder	GLikely benign
Select item 3350770	NM_002303.6(LEPR):c.1618C>A (p.Pro540Thr)	LEPR (P540T)	Single nucleotide variant (missense variant)	LEPR-related disorder	GUncertain significance
Select item 3350741	NM_002303.6(LEPR):c.66T>C (p.Phe22=)	LEPR	Single nucleotide variant (synonymous variant)	LEPR-related disorder	GLikely benign
Select item 3350713	NM_002303.6(LEPR):c.2674-5968G>C	LEPR (V899L)	Single nucleotide variant (missense variant +1 more)	LEPR-related disorder	GUncertain significance
Select item 3350690	NM_002303.6(LEPR):c.2674-5906A>G	LEPR	Single nucleotide variant (synonymous variant +1 more)	LEPR-related disorder	GLikely benign
Select item 3350575	NM_002303.6(LEPR):c.2674-5983G>T	LEPR (E894*)	Single nucleotide variant (nonsense +1 more)	LEPR-related disorder	GUncertain significance
Select item 3350551	NM_002303.6(LEPR):c.1284T>C (p.Ile428=)	LEPR	Single nucleotide variant (synonymous variant)	LEPR-related disorder	GLikely benign
Select item 3350454	NM_002303.6(LEPR):c.3081C>T (p.Ser1027=)	LEPR	Single nucleotide variant (synonymous variant)	LEPR-related disorder	GLikely benign

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