ClinVar for MedGen (Select 473458) - ClinVar

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

Links from MedGen

Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1802600	NM_017777.4(MKS1):c.[1115_1117del;1476T>G]	MKS1 (C492W +3 more)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome 13	GLikely pathogenic
Select item 1344867	NM_003396.3(WNT9B):c.11dup (p.Pro5fs)	LRRC37A2, WNT9B (P5fs)	Duplication (frameshift variant)	Renal dysplasia +2 more	GLikely pathogenic
Select item 1344866	NM_003396.3(WNT9B):c.949G>A (p.Gly317Arg)	LRRC37A2, WNT9B (G317R)	Single nucleotide variant (missense variant +1 more)	Cystic renal dysplasia +1 more	GLikely pathogenic
Select item 1344815	NM_014553.3(TFCP2L1):c.689del (p.Asp230fs)	TFCP2L1 (D230fs)	Deletion (frameshift variant)	Chronic kidney disease	GLikely pathogenic
Select item 977307	NM_000092.5(COL4A4):c.2164+2T>G	COL4A4	Single nucleotide variant (splice donor variant)	Chronic kidney disease	GLikely pathogenic
Select item 915867	NM_022454.4(SOX17):c.954GCACCA[5] (p.316QH[6])	SOX17	Microsatellite (inframe_insertion)	Chronic kidney disease +2 more	GConflicting classifications of pathogenicity
Select item 915866	NM_004924.6(ACTN4):c.928C>T (p.Arg310Trp)	ACTN4 (R310W)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 1 +1 more	GUncertain significance
Select item 915865	NM_002113.3(CFHR1):c.911A>G (p.Tyr304Cys)	CFHR1 (Y304C +7 more)	Single nucleotide variant (missense variant)	Chronic kidney disease +1 more	GUncertain significance
Select item 915864	NM_002113.3(CFHR1):c.790+1G>A	CFHR1	Single nucleotide variant (splice donor variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 915863	NM_004309.6(ARHGDIA):c.*243G>A	ARHGDIA (G249E)	Single nucleotide variant (3 prime UTR variant +3 more)	Nephrotic syndrome, type 8 +2 more	GConflicting classifications of pathogenicity
Select item 915862	NM_212482.4(FN1):c.7408G>C (p.Ala2470Pro)	ATIC, FN1 (A2260P +16 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 915861	NM_002113.3(CFHR1):c.727C>G (p.Leu243Val)	CFHR1 (L243V +7 more)	Single nucleotide variant (missense variant)	Chronic kidney disease	GUncertain significance
Select item 915860	NM_000039.3(APOA1):c.625G>A (p.Gly209Ser)	APOA1 (G100S +1 more)	Single nucleotide variant (missense variant)	Chronic kidney disease	GUncertain significance
Select item 915857	NM_001966.4(EHHADH):c.594_595del (p.Cys199fs)	EHHADH (C103fs +1 more)	Microsatellite (frameshift variant)	Chronic kidney disease	GUncertain significance
Select item 915856	NM_024426.6(WT1):c.576G>T (p.Gln192His)	LOC107982234, WT1 (Q192H)	Single nucleotide variant (missense variant +1 more)	Chronic kidney disease	GUncertain significance
Select item 915855	NM_018685.5(ANLN):c.575C>G (p.Ser192Trp)	ANLN (S192W)	Single nucleotide variant (missense variant)	Chronic kidney disease +1 more	GConflicting classifications of pathogenicity
Select item 915854	NM_001080508.3(TBX18):c.574G>T (p.Val192Leu)	TBX18 (V192L)	Single nucleotide variant (missense variant)	TBX18-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 915852	NM_000092.5(COL4A4):c.4603_4604del (p.Gln1535fs)	COL4A4 (Q1535fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 915850	NM_212482.4(FN1):c.3130G>A (p.Val1044Met)	FN1 (V1044M)	Single nucleotide variant (missense variant)	Spondylometaphyseal dysplasia - Sutcliffe type +3 more	GConflicting classifications of pathogenicity
Select item 915849	NM_015375.3(DSTYK):c.2776G>T (p.Asp926Tyr)	DSTYK (D881Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 884577	NM_003361.4(UMOD):c.1243C>T (p.Arg415Cys)	UMOD (R448C +1 more)	Single nucleotide variant (missense variant +1 more)	Chronic kidney disease +1 more	GConflicting classifications of pathogenicity
Select item 829912	NM_000091.5(COL4A3):c.4700T>G (p.Ile1567Ser)	COL4A3, MFF-DT (I1567S)	Single nucleotide variant (missense variant)	COL4A3-related disorder +7 more	GUncertain significance
Select item 803159	NM_001009944.3(PKD1):c.12460C>T (p.Arg4154Cys)	PKD1 (R4154C +1 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type +3 more	GConflicting classifications of pathogenicity
Select item 791471	NM_212482.4(FN1):c.1070G>A (p.Gly357Glu)	FN1, LOC126806498 (G357E)	Single nucleotide variant (missense variant)	Chronic kidney disease +1 more	GConflicting classifications of pathogenicity
Select item 790514	NM_212482.4(FN1):c.1775G>A (p.Arg592His)	FN1 (R592H)	Single nucleotide variant (missense variant)	Chronic kidney disease +1 more	GConflicting classifications of pathogenicity
Select item 779411	NM_212482.4(FN1):c.4486C>T (p.Arg1496Trp)	FN1 (R1496W +1 more)	Single nucleotide variant (missense variant)	Chronic kidney disease +1 more	GConflicting classifications of pathogenicity
Select item 774610	NM_001966.4(EHHADH):c.2108C>T (p.Ser703Phe)	EHHADH (S607F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 721814	NM_212482.4(FN1):c.5954C>A (p.Pro1985His)	FN1, LOC126806496 (P1985H +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 716421	NM_198334.3(GANAB):c.925C>T (p.Arg309Cys)	GANAB (R331C +5 more)	Single nucleotide variant (missense variant)	Chronic kidney disease +1 more	GConflicting classifications of pathogenicity
Select item 689830	NC_012920.1(MT-CYB):m.643A>G	MT-TF	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke +3 more	GUncertain significance
Select item 645949	NM_001379286.1(ZNF423):c.2275C>T (p.Arg759Cys)	ZNF423 (R634C +3 more)	Single nucleotide variant (missense variant)	Nephronophthisis 14 +1 more	GUncertain significance
Select item 636899	NM_000039.3(APOA1):c.388AAG[1] (p.Lys131del)	APOA1-AS, APOA1 (K131del +1 more)	Microsatellite (inframe_deletion +2 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 591005	NM_000186.4(CFH):c.2517C>A (p.Cys839Ter)	CFH (C839*)	Single nucleotide variant (nonsense)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 523547	NM_033380.3(COL4A5):c.3614G>T (p.Gly1205Val)	COL4A5 (G1205V)	Single nucleotide variant (missense variant)	Chronic kidney disease +2 more	GPathogenic
Select item 452348	NM_000091.5(COL4A3):c.1886C>T (p.Thr629Met)	COL4A3, MFF-DT (T629M)	Single nucleotide variant (missense variant)	Chronic kidney disease +3 more	GConflicting classifications of pathogenicity
Select item 449549	NM_000092.5(COL4A4):c.2906C>G (p.Ser969Ter)	COL4A4 (S969*)	Single nucleotide variant (nonsense)	COL4A4-related disorder +3 more	GPathogenic
Select item 427112	NM_001009944.3(PKD1):c.9898G>A (p.Gly3300Arg)	PKD1 (G3300R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 402534	NM_030787.4(CFHR5):c.486dup (p.Glu163fs)	CFHR5 (E163fs)	Duplication	not specified +3 more	GConflicting classifications of pathogenicity
Select item 373955	NM_000297.4(PKD2):c.357_364delinsTAGGACG (p.Pro120fs)	LOC129992813, PKD2 (P120fs)	Indel (frameshift variant +1 more)	Hypertensive disorder +3 more	GPathogenic
Select item 366157	NM_001379081.2(FREM1):c.1640C>G (p.Ala547Gly)	FREM1 (A547G)	Single nucleotide variant (missense variant +1 more)	Chronic kidney disease +3 more	GUncertain significance
Select item 279752	NM_030787.4(CFHR5):c.622T>C (p.Cys208Arg)	CFHR5 (C208R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 254994	NM_000091.5(COL4A3):c.346C>A (p.Pro116Thr)	MFF-DT, COL4A3 (P116T)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 252572	NM_015148.4(PASK):c.3533+1G>A	PASK	Single nucleotide variant (splice donor variant)	not specified +1 more	GUncertain significance
Select item 245863	NM_022489.4(INF2):c.3221G>A (p.Arg1074Lys)	INF2 (R1074K)	Single nucleotide variant (missense variant)	Chronic kidney disease +4 more	GBenign/Likely benign
Select item 217677	NM_017777.4(MKS1):c.1115_1117del (p.Ser372del)	MKS1 (S372del +1 more)	Deletion (inframe_deletion)	Limb undergrowth +9 more	GPathogenic/Likely pathogenic
Select item 203697	NM_001985.3(ETFB):c.292C>T (p.Arg98Cys)	ETFB (R98C +1 more)	Single nucleotide variant (missense variant)	Chronic kidney disease +4 more	GConflicting classifications of pathogenicity
Select item 196327	NM_001845.6(COL4A1):c.161C>T (p.Pro54Leu)	COL4A1 (P54L)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies +5 more	GConflicting classifications of pathogenicity
Select item 195777	NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val)	TTC21B (L1002V)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +8 more	GConflicting classifications of pathogenicity
Select item 188823	NM_014625.4(NPHS2):c.855_856del (p.Arg286fs)	AXDND1, NPHS2 (R286fs +1 more)	Deletion (frameshift variant +1 more)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 183313	NM_177550.5(SLC13A5):c.231+2T>G	SLC13A5	Single nucleotide variant (intron variant +1 more)	Global developmental delay +2 more	GLikely pathogenic
Select item 128688	NM_001807.6(CEL):c.1966G>C (p.Ala656Pro)	CEL (A656P)	Single nucleotide variant (missense variant)	X-linked dominant inheritance +11 more	GUncertain significance
Select item 65580	NM_000204.5(CFI):c.782G>A (p.Gly261Asp)	CFI (G261D +1 more)	Single nucleotide variant (missense variant +1 more)	Chronic kidney disease +6 more	GLikely benign
Select item 5360	NM_014625.4(NPHS2):c.413G>A (p.Arg138Gln)	NPHS2 (R138Q)	Single nucleotide variant (missense variant)	See cases +4 more	GPathogenic/Likely pathogenic
Select item 5271	NM_004252.5(NHERF1):c.458G>A (p.Arg153Gln)	NHERF1 (R153Q)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 54