13394[HGNC] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 561

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58111	GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3	FAM163A, FAM20B +482 more	Copy number gain	See cases	GPathogenic
Select item 155621	GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1	MYOC, MYOCOS +540 more	Copy number loss	See cases	GPathogenic
Select item 154301	GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1	LOC129932082, LOC129932083 +561 more	Copy number loss	See cases	GPathogenic
Select item 145519	GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3	ABL2, ACBD6 +513 more	Copy number gain	See cases	GPathogenic
Select item 57510	GRCh38/hg38 1q25.1-31.1(chr1:175035040-186042595)x1	ABL2, ACBD6 +347 more	Copy number loss	See cases	GPathogenic
Select item 144717	GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1	MIR488, MR1 +456 more	Copy number loss	See cases	GPathogenic
Select item 60076	GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1	LOC129932021, LOC129932022 +478 more	Copy number loss	See cases	GPathogenic
Select item 224486	NM_014625.4(NPHS2):c.*428A>G	AXDND1, NPHS2	Single nucleotide variant (3 prime UTR variant +1 more)	Nephrotic syndrome, type 2 +1 more	GBenign
Select item 873761	NM_014625.4(NPHS2):c.*422T>C	AXDND1, NPHS2	Single nucleotide variant (3 prime UTR variant +1 more)	Nephrotic syndrome, type 2	GUncertain significance
Select item 293842	NM_014625.4(NPHS2):c.*340C>A	AXDND1, NPHS2	Single nucleotide variant (3 prime UTR variant +1 more)	Nephrotic syndrome, type 2	GUncertain significance
Select item 224485	NM_014625.4(NPHS2):c.*258A>G	AXDND1, NPHS2	Single nucleotide variant (3 prime UTR variant +1 more)	Nephrotic syndrome, type 2 +1 more	GBenign
Select item 293843	NM_014625.4(NPHS2):c.*209C>G	AXDND1, NPHS2	Single nucleotide variant (3 prime UTR variant +1 more)	Nephrotic syndrome, type 2	GUncertain significance
Select item 224484	NM_014625.4(NPHS2):c.*200G>A	AXDND1, NPHS2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 874714	NM_014625.4(NPHS2):c.*199C>T	AXDND1, NPHS2	Single nucleotide variant (3 prime UTR variant +1 more)	Nephrotic syndrome, type 2	GUncertain significance
Select item 293844	NM_014625.4(NPHS2):c.*173G>A	AXDND1, NPHS2	Single nucleotide variant (3 prime UTR variant +1 more)	Nephrotic syndrome, type 2 +1 more	GUncertain significance
Select item 224483	NM_014625.4(NPHS2):c.*157G>A	AXDND1, NPHS2	Single nucleotide variant (3 prime UTR variant +1 more)	Nephrotic syndrome, type 2 +1 more	GBenign
Select item 874715	NM_014625.4(NPHS2):c.*127G>C	AXDND1, NPHS2	Single nucleotide variant (3 prime UTR variant +1 more)	Nephrotic syndrome, type 2	GUncertain significance
Select item 874716	NM_014625.4(NPHS2):c.*126C>T	NPHS2, AXDND1	Single nucleotide variant (3 prime UTR variant +1 more)	Nephrotic syndrome, type 2	GUncertain significance
Select item 293845	NM_014625.4(NPHS2):c.*54G>C	NPHS2, AXDND1	Single nucleotide variant (3 prime UTR variant +1 more)	Nephrotic syndrome, type 2 +2 more	GBenign
Select item 1648585	NM_014625.4(NPHS2):c.1140T>C (p.Ser380=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 558528	NM_014625.4(NPHS2):c.1129_1134del (p.Lys377_Lys378del)	AXDND1, NPHS2	Deletion (inframe_deletion +1 more)	Nephrotic syndrome, type 2	GUncertain significance
Select item 2065715	NM_014625.4(NPHS2):c.1130A>G (p.Lys377Arg)	AXDND1, NPHS2 (K309R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1446062	NM_014625.4(NPHS2):c.1127A>G (p.Lys376Arg)	AXDND1, NPHS2 (K308R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1344835	NM_014625.4(NPHS2):c.1120A>T (p.Asn374Tyr)	AXDND1, NPHS2 (N306Y +1 more)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome	GLikely pathogenic
Select item 734422	NM_014625.4(NPHS2):c.1113G>A (p.Glu371=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2813075	NM_014625.4(NPHS2):c.1110T>C (p.Val370=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2882849	NM_014625.4(NPHS2):c.1104A>G (p.Lys368=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 989640	NM_014625.4(NPHS2):c.1097C>T (p.Pro366Leu)	AXDND1, NPHS2 (P298L +1 more)	Single nucleotide variant (missense variant +1 more)	Steroid-resistant nephrotic syndrome	GUncertain significance
Select item 1610077	NM_014625.4(NPHS2):c.1086C>T (p.Pro362=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2887742	NM_014625.4(NPHS2):c.1083C>G (p.Leu361=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1919904	NM_014625.4(NPHS2):c.1083C>T (p.Leu361=)	NPHS2, AXDND1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1088176	NM_014625.4(NPHS2):c.1080C>T (p.Ser360=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 586184	NM_014625.4(NPHS2):c.1064A>G (p.Asn355Ser)	AXDND1, NPHS2 (N355S +1 more)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 2 +1 more	GUncertain significance
Select item 370964	NM_014625.4(NPHS2):c.1062dup (p.Asn355fs)	AXDND1, NPHS2 (N287fs +1 more)	Duplication (frameshift variant +1 more)	Nephrotic syndrome, type 2	GLikely pathogenic
Select item 1344843	NM_014625.4(NPHS2):c.1059_1060del (p.Ser354fs)	AXDND1, NPHS2 (S286fs +1 more)	Deletion (frameshift variant +1 more)	Nephrotic syndrome	GLikely pathogenic
Select item 2890387	NM_014625.4(NPHS2):c.1059C>A (p.Pro353=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 765829	NM_014625.4(NPHS2):c.1059C>T (p.Pro353=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2677349	NM_014625.4(NPHS2):c.1049del (p.Leu350fs)	AXDND1, NPHS2 (L282fs +1 more)	Deletion (frameshift variant +1 more)	Nephrotic syndrome, type 2	GLikely pathogenic
Select item 2015074	NM_014625.4(NPHS2):c.1047C>T (p.Cys349=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 260425	NM_014625.4(NPHS2):c.1038A>G (p.Leu346=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	Nephrotic syndrome, type 2 +2 more	GBenign/Likely benign
Select item 2032557	NM_014625.4(NPHS2):c.1035C>T (p.Asp345=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1068472	NM_014625.4(NPHS2):c.1032del (p.Phe344fs)	AXDND1, NPHS2 (F276fs +1 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1087885	NM_014625.4(NPHS2):c.1023T>G (p.Pro341=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 558139	NM_014625.4(NPHS2):c.1012_1023del (p.Val338_Pro341del)	AXDND1, NPHS2	Deletion (inframe_deletion +1 more)	Nephrotic syndrome, type 2	GUncertain significance
Select item 591360	NM_014625.4(NPHS2):c.1022del (p.Pro341fs)	AXDND1, NPHS2 (P341fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1565150	NM_014625.4(NPHS2):c.1018T>C (p.Leu340=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1100906	NM_014625.4(NPHS2):c.1008C>T (p.Ser336=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1121091	NM_014625.4(NPHS2):c.990G>A (p.Leu330=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1097703	NM_014625.4(NPHS2):c.990G>T (p.Leu330=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2855023	NM_014625.4(NPHS2):c.987T>G (p.Ser329=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1303204	NM_014625.4(NPHS2):c.983A>G (p.Gln328Arg)	AXDND1, NPHS2 (Q260R +1 more)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 2 +1 more	GUncertain significance
Select item 801581	NM_014625.4(NPHS2):c.981del (p.Gln328fs)	AXDND1, NPHS2 (Q260fs +1 more)	Deletion (frameshift variant +1 more)	Nephrotic syndrome, type 2	GPathogenic
Select item 556375	NM_014625.4(NPHS2):c.979C>T (p.Leu327Phe)	AXDND1, NPHS2 (L327F +1 more)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 2 +1 more	GConflicting classifications of pathogenicity
Select item 2269175	NM_014625.4(NPHS2):c.975C>A (p.His325Gln)	AXDND1, NPHS2 (H325Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2734048	NM_014625.4(NPHS2):c.973C>T (p.His325Tyr)	AXDND1, NPHS2 (H325Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2677343	NM_014625.4(NPHS2):c.969C>A (p.Tyr323Ter)	NPHS2, AXDND1 (Y255* +1 more)	Single nucleotide variant (nonsense +1 more)	Nephrotic syndrome, type 2	GLikely pathogenic
Select item 2751297	NM_014625.4(NPHS2):c.966A>G (p.Arg322=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1146580	NM_014625.4(NPHS2):c.966A>T (p.Arg322=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3346051	NM_014625.4(NPHS2):c.965G>T (p.Arg322Leu)	AXDND1, NPHS2 (R254L +1 more)	Single nucleotide variant (missense variant +1 more)	NPHS2-related disorder	GUncertain significance
Select item 988125	NM_014625.4(NPHS2):c.965G>C (p.Arg322Pro)	AXDND1, NPHS2 (R254P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 555850	NM_014625.4(NPHS2):c.965G>A (p.Arg322Gln)	AXDND1, NPHS2 (R322Q +1 more)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 2	GConflicting classifications of pathogenicity
Select item 371673	NM_014625.4(NPHS2):c.964C>T (p.Arg322Ter)	NPHS2, AXDND1 (R322* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1572715	NM_014625.4(NPHS2):c.960G>A (p.Gln320=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 974486	NM_014625.4(NPHS2):c.953_955del (p.Ala318del)	AXDND1, NPHS2 (A250del +1 more)	Deletion (inframe_deletion +1 more)	Nephrotic syndrome, type 2	GLikely pathogenic
Select item 260432	NM_014625.4(NPHS2):c.954C>T (p.Ala318=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	Nephrotic syndrome, type 2 +2 more	GBenign
Select item 447884	NM_014625.4(NPHS2):c.951del (p.Ala318fs)	AXDND1, NPHS2 (A250fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 2098712	NM_014625.4(NPHS2):c.948T>C (p.Pro316=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2022762	NM_014625.4(NPHS2):c.948T>A (p.Pro316=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 188990	NM_014625.4(NPHS2):c.948del (p.Ala317fs)	AXDND1, NPHS2 (A317fs +1 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
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 2715751	NM_014625.4(NPHS2):c.942C>T (p.Gly314=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2013868	NM_014625.4(NPHS2):c.942C>A (p.Gly314=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1986310	NM_014625.4(NPHS2):c.939A>G (p.Ser313=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1684962	NM_014625.4(NPHS2):c.938C>T (p.Ser313Leu)	AXDND1, NPHS2 (S245L +1 more)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 2 +1 more	GUncertain significance
Select item 2838466	NM_014625.4(NPHS2):c.936G>A (p.Leu312=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1120868	NM_014625.4(NPHS2):c.936G>T (p.Leu312=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 551821	NM_014625.4(NPHS2):c.934C>G (p.Leu312Val)	AXDND1, NPHS2 (L312V +1 more)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 2	GUncertain significance
Select item 1346981	NM_014625.4(NPHS2):c.929A>G (p.Glu310Gly)	AXDND1, NPHS2 (E242G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 635511	NM_014625.4(NPHS2):c.929A>T (p.Glu310Val)	AXDND1, NPHS2 (E310V +1 more)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 2	GPathogenic
Select item 1491797	NM_014625.4(NPHS2):c.928G>A (p.Glu310Lys)	AXDND1, NPHS2 (E242K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 863810	NM_014625.4(NPHS2):c.928G>T (p.Glu310Ter)	AXDND1, NPHS2 (E242* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1099887	NM_014625.4(NPHS2):c.927T>A (p.Ala309=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 988166	NM_014625.4(NPHS2):c.923C>T (p.Ala308Val)	AXDND1, NPHS2 (A240V +1 more)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 2	GLikely pathogenic
Select item 1344840	NM_014625.4(NPHS2):c.910_918del (p.Ser304_Arg306del)	AXDND1, NPHS2	Deletion (inframe_deletion +1 more)	Nephrotic syndrome	GLikely pathogenic
Select item 1146247	NM_014625.4(NPHS2):c.918G>A (p.Arg306=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2093494	NM_014625.4(NPHS2):c.915G>A (p.Leu305=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2776632	NM_014625.4(NPHS2):c.900T>C (p.Ala300=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1085602	NM_014625.4(NPHS2):c.897G>A (p.Lys299=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2677348	NM_014625.4(NPHS2):c.896del (p.Lys299fs)	AXDND1, NPHS2 (K231fs +1 more)	Deletion (frameshift variant +1 more)	Nephrotic syndrome, type 2	GLikely pathogenic
Select item 2708162	NM_014625.4(NPHS2):c.891G>T (p.Ala297=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2011314	NM_014625.4(NPHS2):c.891G>C (p.Ala297=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 716056	NM_014625.4(NPHS2):c.891G>A (p.Ala297=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 370718	NM_014625.4(NPHS2):c.890C>T (p.Ala297Val)	AXDND1, NPHS2 (A297V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1154180	NM_014625.4(NPHS2):c.885A>C (p.Ala295=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 752488	NM_014625.4(NPHS2):c.885A>G (p.Ala295=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2202887	NM_014625.4(NPHS2):c.883G>A (p.Ala295Thr)	AXDND1, NPHS2 (A295T +1 more)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 2 +1 more	GConflicting classifications of pathogenicity
Select item 1121879	NM_014625.4(NPHS2):c.879T>C (p.Ile293=)	NPHS2, AXDND1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 875654	NM_014625.4(NPHS2):c.875T>C (p.Met292Thr)	AXDND1, NPHS2 (M224T +1 more)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 2	GUncertain significance
Select item 552959	NM_014625.4(NPHS2):c.874-1G>A	AXDND1, NPHS2	Single nucleotide variant (intron variant +1 more)	Nephrotic syndrome, type 2 +1 more	GPathogenic/Likely pathogenic

<< First< Prev

Page of 6