ClinVar for MedGen (Select 4904) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1712407	NM_002909.5(REG1A):c.80C>G (p.Thr27Arg)	REG1A (T27R)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 1712406	NM_000186.4(CFH):c.773C>T (p.Pro258Leu)	CFH (P258L)	Single nucleotide variant (missense variant)	Age related macular degeneration 4 +5 more	GUncertain significance
Select item 1712405	NM_016341.4(PLCE1):c.-10T>G	PLCE1	Single nucleotide variant (5 prime UTR variant)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 1712404	NM_014140.4(SMARCAL1):c.353C>G (p.Ala118Gly)	SMARCAL1 (A118G)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia +1 more	GConflicting classifications of pathogenicity
Select item 1712403	NM_020381.4(PDSS2):c.31C>T (p.Pro11Ser)	PDSS2 (P11S)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 1712402	NM_012120.3(CD2AP):c.429A>C (p.Glu143Asp)	CD2AP (E143D)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 1712401	NM_012120.3(CD2AP):c.428A>G (p.Glu143Gly)	CD2AP (E143G)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 1712400	NM_006642.5(SDCCAG8):c.495dup (p.Ser166fs)	SDCCAG8 (S166fs +1 more)	Duplication (5 prime UTR variant +1 more)	Focal segmental glomerulosclerosis	GLikely pathogenic
Select item 1712399	NM_014625.4(NPHS2):c.947C>G (p.Pro316Arg)	AXDND1, NPHS2 (P248R +1 more)	Single nucleotide variant (missense variant +1 more)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 1712398	NM_012120.3(CD2AP):c.1471G>A (p.Ala491Thr)	CD2AP (A491T)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 1712397	NM_004646.4(NPHS1):c.59-9T>G	KIRREL2, NPHS1	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 1712396	NM_004924.6(ACTN4):c.1443-7C>T	ACTN4	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 1712395	NM_004646.4(NPHS1):c.3181C>T (p.Pro1061Ser)	NPHS1 (P1061S)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis +1 more	GUncertain significance
Select item 1712394	NM_004621.6(TRPC6):c.2668G>C (p.Asp890His)	TRPC6 (D890H)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 1712393	NM_004924.6(ACTN4):c.459C>A (p.Phe153Leu)	ACTN4 (F153L)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 1712392	NM_004646.4(NPHS1):c.2517G>A (p.Gln839=)	NPHS1	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis +1 more	GConflicting classifications of pathogenicity
Select item 1712391	NM_004646.4(NPHS1):c.2543A>C (p.Lys848Thr)	NPHS1 (K848T)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis +2 more	GConflicting classifications of pathogenicity
Select item 1712389	NM_004924.6(ACTN4):c.2338-3C>T	ACTN4	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 1712388	NM_012120.3(CD2AP):c.297A>G (p.Pro99=)	CD2AP	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis	GLikely benign
Select item 1712387	NM_014140.4(SMARCAL1):c.965T>A (p.Leu322His)	SMARCAL1 (L322H)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia +1 more	GConflicting classifications of pathogenicity
Select item 1712386	NM_002292.4(LAMB2):c.4759C>T (p.Leu1587=)	LAMB2	Single nucleotide variant (synonymous variant)	Pierson syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1712385	NM_004924.6(ACTN4):c.1229G>A (p.Arg410Gln)	ACTN4 (R410Q)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis	GLikely benign
Select item 1712384	NM_004646.4(NPHS1):c.17C>G (p.Thr6Arg)	KIRREL2, NPHS1 (T6R)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 1712383	NM_004646.4(NPHS1):c.2512C>T (p.Pro838Ser)	NPHS1 (P838S)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis +1 more	GUncertain significance
Select item 1712382	NM_004621.6(TRPC6):c.376G>T (p.Val126Phe)	TRPC6 (V126F)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 1712381	NM_002292.4(LAMB2):c.815A>G (p.Tyr272Cys)	LAMB2 (Y272C)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 1712380	NM_002292.4(LAMB2):c.1156T>C (p.Cys386Arg)	LAMB2 (C386R)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 1712379	NM_004924.6(ACTN4):c.2315C>T (p.Ala772Val)	ACTN4 (A772V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1712378	NM_004621.6(TRPC6):c.1156C>T (p.Gln386Ter)	TRPC6 (Q386*)	Single nucleotide variant (nonsense)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 1712377	NM_004646.4(NPHS1):c.888G>T (p.Ala296=)	NPHS1	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 1712375	NM_016341.4(PLCE1):c.3815-8T>C	PLCE1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1712372	NM_004621.6(TRPC6):c.1196G>A (p.Arg399Gln)	TRPC6 (R399Q)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis +1 more	GConflicting classifications of pathogenicity
Select item 1712371	NM_004621.6(TRPC6):c.2408A>G (p.Lys803Arg)	TRPC6 (K803R)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 1712369	NM_004621.6(TRPC6):c.2346dup (p.Trp783fs)	TRPC6 (W783fs)	Duplication (frameshift variant)	Focal segmental glomerulosclerosis	GLikely pathogenic
Select item 1712368	NM_004646.4(NPHS1):c.3238T>A (p.Cys1080Ser)	NPHS1 (C1080S)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis +1 more	GUncertain significance
Select item 1698961	NM_022489.4(INF2):c.607G>A (p.Ala203Thr)	INF2 (A203T)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 1673701	NM_004621.6(TRPC6):c.996C>T (p.Leu332=)	TRPC6	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 2 +2 more	GBenign/Likely benign
Select item 1657291	NM_004646.4(NPHS1):c.1734G>A (p.Leu578=)	NPHS1	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis +1 more	GConflicting classifications of pathogenicity
Select item 1613447	NM_022489.4(INF2):c.3435C>T (p.Ala1145=)	INF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate E +2 more	GLikely benign
Select item 1611381	NM_002292.4(LAMB2):c.1575C>T (p.Asp525=)	LAMB2	Single nucleotide variant (synonymous variant)	LAMB2-related infantile-onset nephrotic syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1551330	NM_004924.6(ACTN4):c.2520C>T (p.Thr840=)	ACTN4	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 1 +2 more	GConflicting classifications of pathogenicity
Select item 1524828	NM_004646.4(NPHS1):c.2591G>A (p.Arg864His)	NPHS1 (R864H)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 1520811	NM_001174147.2(LMX1B):c.1153G>A (p.Val385Met)	LMX1B (V389M +2 more)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis +1 more	GConflicting classifications of pathogenicity
Select item 1434698	NM_004924.6(ACTN4):c.55G>T (p.Gly19Cys)	ACTN4 (G19C)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 1 +2 more	GUncertain significance
Select item 1344830	NM_030912.3(TRIM8):c.1461C>G (p.Tyr487Ter)	TRIM8 (Y455* +1 more)	Single nucleotide variant (nonsense +1 more)	Focal segmental glomerulosclerosis +2 more	GLikely pathogenic
Select item 1344829	NM_030912.3(TRIM8):c.1240C>T (p.Gln414Ter)	TRIM8 (Q382* +1 more)	Single nucleotide variant (nonsense +1 more)	Focal segmental glomerulosclerosis and neurodevelopmental syndrome	GPathogenic
Select item 1344827	NM_006901.4(MYO9A):c.1166C>T (p.Thr389Met)	MYO9A (T389M)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 1344826	NM_006901.4(MYO9A):c.2295G>C (p.Glu765Asp)	MYO9A (E765D)	Single nucleotide variant (missense variant)	MYO9A-related disorder	GUncertain significance
Select item 1344825	NM_006901.4(MYO9A):c.467A>G (p.Asp156Gly)	MYO9A (D156G)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 1344674	NM_000278.5(PAX2):c.275C>T (p.Thr92Met)	PAX2 (T123M +1 more)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis +1 more	GLikely pathogenic
Select item 1344673	NM_000278.5(PAX2):c.254G>T (p.Gly85Val)	PAX2 (G116V +1 more)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis +1 more	GLikely pathogenic
Select item 1344641	NM_022489.4(INF2):c.542T>G (p.Val181Gly)	INF2 (V181G)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis	GPathogenic
Select item 1342865	NM_000092.5(COL4A4):c.412dup (p.Met138fs)	COL4A4 (M138fs)	Duplication (frameshift variant)	Focal segmental glomerulosclerosis	GLikely pathogenic
Select item 1339205	NM_004646.4(NPHS1):c.2600G>A (p.Gly867Asp)	NPHS1 (G867D)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1330262	NM_001025616.3(ARHGAP24):c.509A>C (p.Glu170Ala)	ARHGAP24 (E170A +3 more)	Single nucleotide variant (intron variant +1 more)	Focal segmental glomerulosclerosis	GUncertain significance
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 1210224	NM_022489.4(INF2):c.2863G>C (p.Glu955Gln)	INF2 (E955Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate E +2 more	GUncertain significance
Select item 1210221	NM_016341.4(PLCE1):c.6640G>A (p.Asp2214Asn)	PLCE1, NOC3L (D1906N +2 more)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 1191639	NM_022489.4(INF2):c.1377G>C (p.Pro459=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis +1 more	GLikely benign
Select item 1189054	NM_030912.3(TRIM8):c.1333C>T (p.Gln445Ter)	TRIM8 (Q413*)	Single nucleotide variant (nonsense +1 more)	Focal segmental glomerulosclerosis and neurodevelopmental syndrome +3 more	GPathogenic/Likely pathogenic
Select item 1189052	NM_030912.3(TRIM8):c.1231C>T (p.Gln411Ter)	TRIM8 (Q379*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 1189050	NM_030912.3(TRIM8):c.1163del (p.Phe388fs)	TRIM8 (F356fs +1 more)	Deletion (frameshift variant +1 more)	Focal segmental glomerulosclerosis and neurodevelopmental syndrome +3 more	GPathogenic/Likely pathogenic
Select item 1189048	NM_030912.3(TRIM8):c.1380T>A (p.Tyr460Ter)	TRIM8 (Y428*)	Single nucleotide variant (nonsense +1 more)	Focal segmental glomerulosclerosis and neurodevelopmental syndrome +3 more	GPathogenic/Likely pathogenic
Select item 1179068	NM_006642.5(SDCCAG8):c.99_100del (p.Ala35fs)	SDCCAG8 (A35fs)	Deletion (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 16 +3 more	GConflicting classifications of pathogenicity
Select item 1170933	NM_004924.6(ACTN4):c.2010+9C>T	ACTN4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1170555	NM_004924.6(ACTN4):c.2191-5C>T	ACTN4	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1169518	NM_022489.4(INF2):c.1929C>T (p.Ile643=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis +2 more	GBenign/Likely benign
Select item 1123904	NM_004924.6(ACTN4):c.1174C>G (p.Gln392Glu)	ACTN4 (Q392E)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis +1 more	GConflicting classifications of pathogenicity
Select item 1120175	NM_003661.3:c.[1024A>G;1152T>G];[1164_1169delTTATAA]	APOL1 (I400M +5 more)	Single nucleotide variant (missense variant)	Hyalinosis, Segmental Glomerular	Grisk factor
Select item 1031102	NM_006901.4(MYO9A):c.5110C>T (p.Pro1704Ser)	MYO9A (P1704S)	Single nucleotide variant (missense variant)	Myasthenic syndrome, congenital, 24, presynaptic	GUncertain significance
Select item 994767	NM_004924.6(ACTN4):c.2680G>A (p.Gly894Ser)	ACTN4 (G889S +1 more)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis +1 more	GConflicting classifications of pathogenicity
Select item 988159	NM_024876.4(COQ8B):c.538C>T (p.Arg180Cys)	COQ8B (R139C +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 9	GUncertain significance
Select item 986857	NM_030912.3(TRIM8):c.1267C>T (p.Gln423Ter)	TRIM8 (Q391* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 964465	NM_000092.5(COL4A4):c.3704del (p.Pro1235fs)	COL4A4 (P1235fs)	Deletion (frameshift variant)	Autosomal recessive Alport syndrome +2 more	GPathogenic
Select item 930195	NM_002473.6(MYH9):c.4358A>G (p.Glu1453Gly)	MYH9 (E1453G)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis +1 more	GUncertain significance
Select item 902789	NM_002292.4(LAMB2):c.4149C>A (p.His1383Gln)	LAMB2 (H1383Q)	Single nucleotide variant (missense variant)	Pierson syndrome +2 more	GUncertain significance
Select item 844422	NM_033380.3(COL4A5):c.1815del (p.Asn607fs)	COL4A5 (N607fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 812904	NM_014669.5(NUP93):c.1909A>G (p.Lys637Glu)	NUP93 (K514E +1 more)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis	GLikely pathogenic
Select item 812903	NM_004621.6(TRPC6):c.2668G>A (p.Asp890Asn)	TRPC6 (D890N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 791013	NM_014140.4(SMARCAL1):c.1776G>A (p.Thr592=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia +1 more	GConflicting classifications of pathogenicity
Select item 769371	NM_016341.4(PLCE1):c.2999G>A (p.Ser1000Asn)	PLCE1 (S1000N +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 760307	NM_004646.4(NPHS1):c.3110-5C>T	NPHS1	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis +1 more	GConflicting classifications of pathogenicity
Select item 741670	NM_014625.4(NPHS2):c.372C>T (p.Cys124=)	NPHS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 725323	NM_004621.6(TRPC6):c.837C>T (p.Gly279=)	TRPC6	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis +1 more	GBenign/Likely benign
Select item 724178	NM_004646.4(NPHS1):c.803G>A (p.Arg268Gln)	NPHS1 (R268Q)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome +3 more	GConflicting classifications of pathogenicity
Select item 720782	NM_004646.4(NPHS1):c.1908C>T (p.Ser636=)	NPHS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 720781	NM_004646.4(NPHS1):c.3598C>T (p.Pro1200Ser)	NPHS1 (P1200S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 718615	NM_020381.4(PDSS2):c.1146G>A (p.Ser382=)	PDSS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 716700	NM_004646.4(NPHS1):c.3130G>A (p.Glu1044Lys)	NPHS1 (E1044K)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 716478	NM_004646.4(NPHS1):c.840+6G>A	NPHS1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 716477	NM_004646.4(NPHS1):c.1758-8T>G	NPHS1	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 710144	NM_004924.6(ACTN4):c.1218C>A (p.Arg406=)	ACTN4	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 1 +2 more	GBenign/Likely benign
Select item 705453	NM_022489.4(INF2):c.354C>T (p.Ile118=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis +2 more	GLikely benign
Select item 635085	NM_016341.4(PLCE1):c.4978_4981del (p.Gln1660fs)	PLCE1, PLCE1-AS1 (Q1660fs +2 more)	Microsatellite (frameshift variant)	Nephrotic syndrome, type 3 +1 more	GPathogenic/Likely pathogenic
Select item 599126	NM_024426.6(WT1):c.1180C>T (p.Arg394Cys)	WT1 (R177C +8 more)	Single nucleotide variant (missense variant +2 more)	Focal segmental glomerulosclerosis +5 more	GUncertain significance
Select item 599123	NM_004924.6(ACTN4):c.1279G>A (p.Ala427Thr)	ACTN4 (A427T)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis +2 more	GConflicting classifications of pathogenicity
Select item 599100	NM_024426.6(WT1):c.1388G>A (p.Arg463Gln)	WT1 (R246Q +10 more)	Single nucleotide variant (missense variant +1 more)	Drash syndrome +9 more	GConflicting classifications of pathogenicity
Select item 596903	NM_014625.4(NPHS2):c.709G>C (p.Glu237Gln)	NPHS2 (E237Q)	Single nucleotide variant (missense variant +1 more)	Focal segmental glomerulosclerosis +3 more	GConflicting classifications of pathogenicity
Select item 585361	NM_004924.6(ACTN4):c.2400C>T (p.Asp800=)	ACTN4	Single nucleotide variant (synonymous variant +1 more)	Focal segmental glomerulosclerosis 1 +2 more	GBenign/Likely benign
Select item 584442	NM_030912.3(TRIM8):c.1375C>T (p.Gln459Ter)	TRIM8 (Q459* +1 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic

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