ClinVar for MedGen (Select 9635) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2627377	NM_153704.6(TMEM67):c.[1634G>A;2241G>A]	TMEM67 (G545E +1 more)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 6	GPathogenic
Select item 1712480	NM_016341.4(PLCE1):c.3492G>A (p.Thr1164=)	PLCE1	Single nucleotide variant (synonymous variant)	PLCE1-related condition +1 more	GLikely benign
Select item 1712479	NM_007366.5(PLA2R1):c.3570C>T (p.Gly1190=)	PLA2R1	Single nucleotide variant (synonymous variant)	Kidney disorder	GUncertain significance
Select item 1712478	NM_022489.4(INF2):c.2892C>T (p.Pro964=)	INF2	Single nucleotide variant (synonymous variant)	Kidney disorder	GUncertain significance
Select item 1712477	NM_020381.4(PDSS2):c.290C>T (p.Thr97Ile)	PDSS2 (T97I)	Single nucleotide variant (missense variant)	Kidney disorder	GUncertain significance
Select item 1712476	NM_007366.5(PLA2R1):c.2096G>A (p.Cys699Tyr)	PLA2R1 (C699Y)	Single nucleotide variant (missense variant)	Kidney disorder	GUncertain significance
Select item 1712475	NM_004621.6(TRPC6):c.1645T>A (p.Trp549Arg)	TRPC6 (W549R)	Single nucleotide variant (missense variant)	Kidney disorder	GUncertain significance
Select item 1712474	NM_004998.4(MYO1E):c.*716A>G	MYO1E	Single nucleotide variant (3 prime UTR variant)	Kidney disorder	GLikely benign
Select item 1712473	NM_007366.5(PLA2R1):c.-127del	PLA2R1	Deletion (5 prime UTR variant)	Kidney disorder	GLikely benign
Select item 1712472	NM_022098.4(XPNPEP3):c.926G>T (p.Arg309Leu)	XPNPEP3 (R309L)	Single nucleotide variant (missense variant)	Kidney disorder	GUncertain significance
Select item 1712471	NM_153240.5(NPHP3):c.*108G>A	NPHP3, NPHP3-ACAD11	Single nucleotide variant (3 prime UTR variant)	Kidney disorder	GUncertain significance
Select item 1712470	NM_014425.5(INVS):c.1984C>G (p.Pro662Ala)	INVS (P336A +2 more)	Single nucleotide variant (missense variant +1 more)	Kidney disorder	GUncertain significance
Select item 1712469	NM_022098.4(XPNPEP3):c.854A>G (p.Lys285Arg)	XPNPEP3 (K285R)	Single nucleotide variant (missense variant)	Kidney disorder	GUncertain significance
Select item 1712468	NM_022098.4(XPNPEP3):c.926G>A (p.Arg309Gln)	XPNPEP3 (R309Q)	Single nucleotide variant (missense variant)	Nephronophthisis-like nephropathy 1 +1 more	GUncertain significance
Select item 1712458	NM_007366.5(PLA2R1):c.1957del (p.Ala653fs)	PLA2R1 (A653fs)	Deletion (frameshift variant)	Kidney disorder	GBenign
Select item 1712448	NM_000186.4(CFH):c.1617T>C (p.Gly539=)	CFH	Single nucleotide variant (synonymous variant)	Kidney disorder +5 more	GLikely benign
Select item 1712440	NM_001201550.3(CFHR4):c.118C>T (p.Arg40Cys)	CFHR4 (R39C +1 more)	Single nucleotide variant (missense variant)	Kidney disorder	GUncertain significance
Select item 1712436	NM_004924.6(ACTN4):c.909C>T (p.Ser303=)	ACTN4	Single nucleotide variant (synonymous variant)	Kidney disorder	GUncertain significance
Select item 1712435	NM_178170.3(NEK8):c.453C>T (p.Ser151=)	NEK8	Single nucleotide variant (synonymous variant)	Kidney disorder	GUncertain significance
Select item 1712430	NM_153240.5(NPHP3):c.1958A>G (p.Asn653Ser)	NPHP3-ACAD11, NPHP3 (N653S)	Single nucleotide variant (missense variant)	Kidney disorder	GUncertain significance
Select item 1712429	NM_153240.5(NPHP3):c.2042T>G (p.Ile681Arg)	NPHP3-ACAD11, NPHP3 (I681R)	Single nucleotide variant (non-coding transcript variant +1 more)	Kidney disorder	GUncertain significance
Select item 1712428	NM_014140.4(SMARCAL1):c.2313C>G (p.Phe771Leu)	SMARCAL1 (F771L)	Single nucleotide variant (missense variant)	Kidney disorder	GUncertain significance
Select item 1712427	NM_004646.4(NPHS1):c.2810G>A (p.Ser937Asn)	NPHS1 (S937N)	Single nucleotide variant (missense variant)	NPHS1-related condition +2 more	GUncertain significance
Select item 1712426	NM_000537.4(REN):c.614G>A (p.Arg205Lys)	REN (R205K)	Single nucleotide variant (missense variant)	Kidney disorder	GUncertain significance
Select item 1712425	NM_022489.4(INF2):c.3154G>A (p.Ala1052Thr)	INF2 (A1052T)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +3 more	GConflicting classifications of pathogenicity
Select item 1712424	NM_002292.4(LAMB2):c.2369C>G (p.Ser790Ter)	LAMB2 (S790*)	Single nucleotide variant (nonsense)	Kidney disorder	GLikely pathogenic
Select item 1712423	NM_001358921.2(COQ2):c.951+8C>G	COQ2	Single nucleotide variant (intron variant)	Kidney disorder	GUncertain significance
Select item 1712422	NM_016341.4(PLCE1):c.5625T>G (p.Ile1875Met)	PLCE1 (I1567M +2 more)	Single nucleotide variant (missense variant)	Kidney disorder	GUncertain significance
Select item 1712421	NM_004621.6(TRPC6):c.258C>T (p.Tyr86=)	TRPC6	Single nucleotide variant (synonymous variant)	Kidney disorder	GUncertain significance
Select item 1712420	NM_033380.3(COL4A5):c.465G>A (p.Lys155=)	COL4A5	Single nucleotide variant (synonymous variant)	Kidney disorder	GUncertain significance
Select item 1712419	NM_004621.6(TRPC6):c.76A>T (p.Asn26Tyr)	TRPC6 (N26Y)	Single nucleotide variant (missense variant)	Kidney disorder	GUncertain significance
Select item 1712418	NM_022489.4(INF2):c.1812A>T (p.Arg604=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 5 +2 more	GConflicting classifications of pathogenicity
Select item 1712417	NM_002909.5(REG1A):c.168C>T (p.Thr56=)	REG1A	Single nucleotide variant (synonymous variant)	Kidney disorder	GLikely benign
Select item 1712416	NM_000091.5(COL4A3):c.2656+1G>T	COL4A3, MFF-DT	Single nucleotide variant (splice donor variant)	Inborn genetic diseases +1 more	GLikely pathogenic
Select item 1712415	NM_000092.5(COL4A4):c.4440C>A (p.Cys1480Ter)	COL4A4 (C1480*)	Single nucleotide variant (nonsense)	Kidney disorder	GLikely pathogenic
Select item 1712414	NM_007366.5(PLA2R1):c.3857_3861del (p.Asn1286fs)	PLA2R1 (N1286fs)	Deletion (frameshift variant)	Kidney disorder	GUncertain significance
Select item 1712413	NM_001128178.3(NPHP1):c.1045A>T (p.Ser349Cys)	NPHP1 (S286C +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1712412	NM_022489.4(INF2):c.451T>C (p.Cys151Arg)	INF2 (C151R)	Single nucleotide variant (missense variant)	Kidney disorder	GLikely pathogenic
Select item 1712411	NM_002473.6(MYH9):c.2499+4C>T	MYH9	Single nucleotide variant (intron variant)	Kidney disorder +1 more	GUncertain significance
Select item 1712410	NM_004646.4(NPHS1):c.1108G>A (p.Val370Ile)	NPHS1 (V370I)	Single nucleotide variant (missense variant)	Kidney disorder	GUncertain significance
Select item 1712409	NM_006642.5(SDCCAG8):c.1222-8C>T	SDCCAG8	Single nucleotide variant (intron variant)	Kidney disorder	GUncertain significance
Select item 1712408	NM_004646.4(NPHS1):c.2971G>A (p.Val991Ile)	NPHS1 (V991I)	Single nucleotide variant (missense variant)	Kidney disorder	GUncertain significance
Select item 1712390	NM_007366.5(PLA2R1):c.1956A>C (p.Lys652Asn)	PLA2R1 (K652N)	Single nucleotide variant (missense variant)	Kidney disorder	GBenign
Select item 1712376	NM_021023.6(CFHR3):c.355G>C (p.Gly119Arg)	CFHR3 (G119R)	Single nucleotide variant (missense variant)	Kidney disorder	GUncertain significance
Select item 1712374	NM_000537.4(REN):c.492+6T>C	REN	Single nucleotide variant (intron variant)	Kidney disorder	GUncertain significance
Select item 1712373	NM_000186.4(CFH):c.3493C>T (p.His1165Tyr)	CFH (H1165Y)	Single nucleotide variant (missense variant)	Age related macular degeneration 4 +4 more	GUncertain significance
Select item 1712370	NM_004621.6(TRPC6):c.2488G>A (p.Gly830Arg)	TRPC6 (G830R)	Single nucleotide variant (missense variant)	Kidney disorder +1 more	GConflicting classifications of pathogenicity
Select item 1712367	NM_022098.4(XPNPEP3):c.823G>T (p.Ala275Ser)	XPNPEP3 (A275S)	Single nucleotide variant (missense variant)	Kidney disorder	GUncertain significance
Select item 1712366	NM_000186.4(CFH):c.1337-8595C>T	CFH	Single nucleotide variant (intron variant)	Kidney disorder	GBenign
Select item 1712365	NM_000064.4(C3):c.3646+6G>A	C3	Single nucleotide variant (intron variant)	Kidney disorder	GUncertain significance
Select item 1712364	NM_145174.2(DNAJB7):c.164dup (p.Leu56fs)	XPNPEP3, DNAJB7 (L56fs)	Duplication (frameshift variant +2 more)	Kidney disorder	GBenign
Select item 1712363	NM_003647.3(DGKE):c.1347C>T (p.Ile449=)	DGKE	Single nucleotide variant (synonymous variant)	DGKE-related condition +2 more	GConflicting classifications of pathogenicity
Select item 1712362	NM_002292.4(LAMB2):c.3628C>T (p.Arg1210Cys)	LAMB2 (R1210C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1712361	NM_002292.4(LAMB2):c.2151G>A (p.Ser717=)	LAMB2	Single nucleotide variant (synonymous variant)	Kidney disorder +2 more	GUncertain significance
Select item 1712360	NM_153240.5(NPHP3):c.713G>C (p.Gly238Ala)	NPHP3-ACAD11, NPHP3 (G238A)	Single nucleotide variant (non-coding transcript variant +1 more)	Kidney disorder	GUncertain significance
Select item 1712359	NM_000537.4(REN):c.443G>A (p.Arg148His)	REN (R148H)	Single nucleotide variant (missense variant)	Kidney disorder +1 more	GUncertain significance
Select item 1712358	NM_003361.4(UMOD):c.274T>G (p.Cys92Gly)	UMOD (C125G +1 more)	Single nucleotide variant (missense variant +1 more)	Kidney disorder	GUncertain significance
Select item 1712357	NM_007366.5(PLA2R1):c.425G>A (p.Arg142Gln)	PLA2R1 (R142Q)	Single nucleotide variant (missense variant)	Kidney disorder	GLikely benign
Select item 1712356	NM_007366.5(PLA2R1):c.816T>C (p.Asp272=)	PLA2R1	Single nucleotide variant (synonymous variant)	Kidney disorder	GLikely benign
Select item 1712355	NM_000092.5(COL4A4):c.2782_2799del (p.Cys928_Gly933del)	COL4A4	Deletion (inframe_indel +1 more)	Kidney disorder	GUncertain significance
Select item 1712354	NM_001358921.2(COQ2):c.739T>C (p.Tyr247His)	COQ2 (Y247H +1 more)	Single nucleotide variant (missense variant)	Kidney disorder	GUncertain significance
Select item 1712353	NM_033380.3(COL4A5):c.4184dup (p.Pro1396fs)	COL4A5 (P1390fs +1 more)	Duplication (frameshift variant)	Kidney disorder	GLikely pathogenic
Select item 1712352	NM_015272.5(RPGRIP1L):c.3486A>G (p.Gln1162=)	RPGRIP1L	Single nucleotide variant (synonymous variant)	Kidney disorder	GUncertain significance
Select item 1712351	NM_007366.5(PLA2R1):c.86C>G (p.Pro29Arg)	PLA2R1 (P29R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1712350	NM_016341.4(PLCE1):c.1984T>C (p.Phe662Leu)	PLCE1 (F354L +1 more)	Single nucleotide variant (missense variant)	Kidney disorder	GUncertain significance
Select item 1712349	NM_006642.5(SDCCAG8):c.553A>G (p.Met185Val)	SDCCAG8 (M185V +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 16 +2 more	GUncertain significance
Select item 1712348	NM_153704.6(TMEM67):c.2882C>A (p.Ser961Tyr)	TMEM67 (S880Y +1 more)	Single nucleotide variant (missense variant +1 more)	Kidney disorder	GUncertain significance
Select item 1712347	NM_016341.4(PLCE1):c.826G>T (p.Val276Leu)	PLCE1 (V276L)	Single nucleotide variant (missense variant)	Kidney disorder	GUncertain significance
Select item 1712346	NM_153240.5(NPHP3):c.2670T>G (p.Phe890Leu)	NPHP3, NPHP3-ACAD11 (F890L)	Single nucleotide variant (non-coding transcript variant +1 more)	Kidney disorder	GUncertain significance
Select item 1708300	NM_138694.4(PKHD1):c.1625T>C (p.Leu542Ser)	PKHD1 (L542S)	Single nucleotide variant (missense variant)	Kidney disorder	GUncertain significance
Select item 1703962	NM_000091.5(COL4A3):c.440C>T (p.Pro147Leu)	COL4A3, MFF-DT (P147L)	Single nucleotide variant (missense variant)	Kidney disorder +1 more	GUncertain significance
Select item 1588570	NM_000186.4(CFH):c.3045T>C (p.Thr1015=)	CFH	Single nucleotide variant (synonymous variant)	Kidney disorder +5 more	GConflicting classifications of pathogenicity
Select item 1561661	NM_015102.5(NPHP4):c.3915C>T (p.Leu1305=)	NPHP4	Single nucleotide variant (synonymous variant +1 more)	Kidney disorder +1 more	GLikely benign
Select item 1548560	NM_033380.3(COL4A5):c.66G>A (p.Gln22=)	COL4A5	Single nucleotide variant (synonymous variant)	Kidney disorder +1 more	GConflicting classifications of pathogenicity
Select item 1521297	NM_002292.4(LAMB2):c.4070C>T (p.Pro1357Leu)	LAMB2 (P1357L)	Single nucleotide variant (missense variant)	Kidney disorder +2 more	GUncertain significance
Select item 1496856	NM_020381.4(PDSS2):c.908A>G (p.Glu303Gly)	PDSS2 (E303G)	Single nucleotide variant (missense variant)	PDSS2-related condition +3 more	GUncertain significance
Select item 1465073	NM_015102.5(NPHP4):c.2206C>T (p.Arg736Cys)	NPHP4 (R223C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1444216	NM_153704.6(TMEM67):c.2634T>G (p.Asn878Lys)	TMEM67 (N797K +1 more)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +8 more	GUncertain significance
Select item 1423584	NM_001174147.2(LMX1B):c.901C>T (p.Arg301Cys)	LMX1B (R301C +1 more)	Single nucleotide variant (missense variant)	Kidney disorder +2 more	GUncertain significance
Select item 1336119	NM_001201550.3(CFHR4):c.103T>C (p.Tyr35His)	CFHR4 (Y34H +1 more)	Single nucleotide variant (missense variant)	Kidney disorder +1 more	GLikely benign
Select item 1336024	NM_001710.6(CFB):c.978A>C (p.Glu326Asp)	CFB (E326D)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1294548	NM_004998.4(MYO1E):c.*14C>G	MYO1E	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 1284610	NM_000186.4(CFH):c.3150T>C (p.Asn1050=)	CFH	Single nucleotide variant (synonymous variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1 +6 more	GBenign/Likely benign
Select item 1229176	NM_002113.3(CFHR1):c.447T>C (p.Asn149=)	CFHR1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1220836	NM_003647.3(DGKE):c.798T>A (p.Leu266=)	DGKE	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1210225	NM_016341.4(PLCE1):c.3595G>A (p.Gly1199Ser)	PLCE1 (G1183S +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1168375	NM_004998.4(MYO1E):c.1440G>A (p.Thr480=)	MYO1E	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1145698	NM_002292.4(LAMB2):c.3797+4C>T	LAMB2	Single nucleotide variant (intron variant)	Pierson syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1145431	NM_014625.4(NPHS2):c.513T>C (p.Thr171=)	NPHS2	Single nucleotide variant (synonymous variant)	Kidney disorder +1 more	GConflicting classifications of pathogenicity
Select item 1142457	NM_033380.3(COL4A5):c.4659G>A (p.Met1553Ile)	COL4A5 (M1547I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1137635	NM_022489.4(INF2):c.1458C>T (p.Phe486=)	INF2	Single nucleotide variant (synonymous variant)	INF2-related condition +3 more	GConflicting classifications of pathogenicity
Select item 1112132	NM_022489.4(INF2):c.636C>T (p.Arg212=)	INF2	Single nucleotide variant (synonymous variant)	Kidney disorder +2 more	GConflicting classifications of pathogenicity
Select item 1101471	NM_000092.5(COL4A4):c.2190G>A (p.Pro730=)	COL4A4	Single nucleotide variant (synonymous variant)	Kidney disorder +1 more	GConflicting classifications of pathogenicity
Select item 1012479	NM_000361.3(THBD):c.57A>T (p.Ala19=)	THBD	Single nucleotide variant (synonymous variant)	Kidney disorder +1 more	GConflicting classifications of pathogenicity
Select item 1012478	NM_000361.3(THBD):c.1356C>A (p.Ser452=)	THBD	Single nucleotide variant (synonymous variant)	Kidney disorder +1 more	GBenign/Likely benign
Select item 1007191	NM_001174147.2(LMX1B):c.327-5_327-3dup	LMX1B	Duplication (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 999475	NM_006642.5(SDCCAG8):c.283A>G (p.Arg95Gly)	SDCCAG8 (R95G)	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +3 more	GUncertain significance
Select item 967617	NM_015272.5(RPGRIP1L):c.1880A>C (p.Lys627Thr)	RPGRIP1L (K627T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 966726	NM_025114.4(CEP290):c.1448C>T (p.Thr483Ile)	CEP290 (T483I)	Single nucleotide variant (missense variant)	Kidney disorder +4 more	GUncertain significance
Select item 931168	NM_015102.5(NPHP4):c.12G>A (p.Trp4Ter)	NPHP4 (W4*)	Single nucleotide variant (5 prime UTR variant +3 more)	Senior-Loken syndrome 4 +2 more	GPathogenic/Likely pathogenic

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