KIRREL2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	ALKBH6, ANKRD27 +459 more	Copy number loss	See cases	GPathogenic
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	ALKBH6, ANKRD27 +439 more	Copy number loss	See cases	GPathogenic
Select item 221400	GRCh38/hg38 19q13.12(chr19:35778321-35862983)x1	ARHGAP33, KIRREL2 +4 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 2735857	NM_004646.4(NPHS1):c.275-15C>T	KIRREL2, NPHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2864723	NM_004646.4(NPHS1):c.274+11A>C	KIRREL2, NPHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985394	NM_004646.4(NPHS1):c.274+9T>C	KIRREL2, NPHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1097387	NM_004646.4(NPHS1):c.274+7G>A	KIRREL2, NPHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2109301	NM_004646.4(NPHS1):c.274+2T>A	KIRREL2, NPHS1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 3201671	NM_004646.4(NPHS1):c.269C>A (p.Ala90Asp)	KIRREL2, NPHS1 (A90D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1616907	NM_004646.4(NPHS1):c.267T>C (p.Pro89=)	KIRREL2, NPHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3201670	NM_004646.4(NPHS1):c.265C>T (p.Pro89Ser)	KIRREL2, NPHS1 (P89S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2895127	NM_004646.4(NPHS1):c.264C>A (p.Asp88Glu)	KIRREL2, NPHS1 (D88E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2324786	NM_004646.4(NPHS1):c.263A>T (p.Asp88Val)	KIRREL2, NPHS1 (D88V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3300807	NM_004646.4(NPHS1):c.259G>T (p.Gly87Trp)	KIRREL2, NPHS1 (G87W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1038951	NM_004646.4(NPHS1):c.250C>T (p.Arg84Cys)	KIRREL2, NPHS1 (R84C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1109075	NM_004646.4(NPHS1):c.249C>T (p.Tyr83=)	KIRREL2, NPHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 992391	NM_004646.4(NPHS1):c.249C>G (p.Tyr83Ter)	NPHS1, KIRREL2 (Y83*)	Single nucleotide variant (nonsense)	Finnish congenital nephrotic syndrome	GPathogenic
Select item 56475	NM_004646.4(NPHS1):c.248dup (p.Tyr83Ter)	KIRREL2, NPHS1 (Y83*)	Duplication (nonsense)	not provided +1 more	GPathogenic
Select item 1077293	NM_004646.4(NPHS1):c.246G>A (p.Arg82=)	KIRREL2, NPHS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1547252	NM_004646.4(NPHS1):c.243G>C (p.Pro81=)	KIRREL2, NPHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1153659	NM_004646.4(NPHS1):c.243G>A (p.Pro81=)	KIRREL2, NPHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1633612	NM_004646.4(NPHS1):c.240C>T (p.Phe80=)	KIRREL2, NPHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2319321	NM_004646.4(NPHS1):c.235G>T (p.Gly79Cys)	KIRREL2, NPHS1 (G79C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2712922	NM_004646.4(NPHS1):c.234A>C (p.Pro78=)	KIRREL2, NPHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1726140	NM_004646.4(NPHS1):c.233dup (p.Gly79fs)	KIRREL2, NPHS1 (G79fs)	Duplication (frameshift variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 2075104	NM_004646.4(NPHS1):c.225C>G (p.Pro75=)	KIRREL2, NPHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1975587	NM_004646.4(NPHS1):c.225del (p.Arg76fs)	KIRREL2, NPHS1 (R76fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 727772	NM_004646.4(NPHS1):c.219C>T (p.Pro73=)	KIRREL2, NPHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 888611	NM_004646.4(NPHS1):c.218C>T (p.Pro73Leu)	KIRREL2, NPHS1 (P73L)	Single nucleotide variant (missense variant)	Congenital nephrotic syndrome +2 more	GUncertain significance
Select item 2789059	NM_004646.4(NPHS1):c.216C>T (p.Gly72=)	KIRREL2, NPHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 259487	NM_004646.4(NPHS1):c.216C>A (p.Gly72=)	KIRREL2, NPHS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2000361	NM_004646.4(NPHS1):c.212del (p.Leu71fs)	KIRREL2, NPHS1 (L71fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 586182	NM_004646.4(NPHS1):c.212T>C (p.Leu71Pro)	KIRREL2, NPHS1 (L71P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1975832	NM_004646.4(NPHS1):c.210C>T (p.Leu70=)	KIRREL2, NPHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1092446	NM_004646.4(NPHS1):c.207G>A (p.Leu69=)	KIRREL2, NPHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1666469	NM_004646.4(NPHS1):c.205C>T (p.Leu69=)	KIRREL2, NPHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1149652	NM_004646.4(NPHS1):c.204G>A (p.Gly68=)	KIRREL2, NPHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 56455	NM_004646.4(NPHS1):c.191G>C (p.Trp64Ser)	KIRREL2, NPHS1 (W64S)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 1726782	NM_004646.4(NPHS1):c.187C>T (p.Gln63Ter)	KIRREL2, NPHS1 (Q63*)	Single nucleotide variant (nonsense)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 3300804	NM_004646.4(NPHS1):c.184G>T (p.Val62Leu)	KIRREL2, NPHS1 (V62L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1541393	NM_004646.4(NPHS1):c.183G>A (p.Ala61=)	KIRREL2, NPHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1725372	NM_004646.4(NPHS1):c.181_182insTCTT (p.Ala61fs)	KIRREL2, NPHS1 (A61fs)	Insertion (frameshift variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 1724213	NM_004646.4(NPHS1):c.181_182insTT (p.Ala61fs)	KIRREL2, NPHS1 (A61fs)	Insertion (frameshift variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 1602037	NM_004646.4(NPHS1):c.182C>T (p.Ala61Val)	KIRREL2, NPHS1 (A61V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1130692	NM_004646.4(NPHS1):c.177C>G (p.Gly59=)	KIRREL2, NPHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 733234	NM_004646.4(NPHS1):c.177C>A (p.Gly59=)	KIRREL2, NPHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1806196	NM_004646.4(NPHS1):c.162_176del (p.Val55_Gly59del)	KIRREL2, NPHS1	Deletion (inframe_indel +1 more)	Finnish congenital nephrotic syndrome	GUncertain significance
Select item 2023367	NM_004646.4(NPHS1):c.174T>C (p.Pro58=)	KIRREL2, NPHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 371017	NM_004646.4(NPHS1):c.174del (p.Gly59fs)	KIRREL2, NPHS1 (G59fs)	Deletion (frameshift variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 2677310	NM_004646.4(NPHS1):c.173del (p.Pro58fs)	NPHS1, KIRREL2 (P58fs)	Deletion (frameshift variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 1079342	NM_004646.4(NPHS1):c.171C>A (p.Thr57=)	KIRREL2, NPHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1999083	NM_004646.4(NPHS1):c.165C>T (p.Val55=)	KIRREL2, NPHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2760285	NM_004646.4(NPHS1):c.163_164insA (p.Val55fs)	KIRREL2, NPHS1 (V55fs)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 1726058	NM_004646.4(NPHS1):c.163del (p.Val55fs)	KIRREL2, NPHS1 (V55fs)	Deletion (frameshift variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 1953357	NM_004646.4(NPHS1):c.162G>A (p.Gly54=)	KIRREL2, NPHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2920279	NM_004646.4(NPHS1):c.156T>C (p.Arg52=)	KIRREL2, NPHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2183699	NM_004646.4(NPHS1):c.155G>A (p.Arg52His)	KIRREL2, NPHS1 (R52H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1112324	NM_004646.4(NPHS1):c.153G>A (p.Leu51=)	KIRREL2, NPHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 328882	NM_004646.4(NPHS1):c.151C>T (p.Leu51=)	NPHS1, KIRREL2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis +2 more	GConflicting classifications of pathogenicity
Select item 1334163	NM_004646.4(NPHS1):c.146T>G (p.Val49Gly)	KIRREL2, NPHS1 (V49G)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome	GUncertain significance
Select item 1627173	NM_004646.4(NPHS1):c.144A>C (p.Ser48=)	KIRREL2, NPHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3014485	NM_004646.4(NPHS1):c.141C>T (p.Ala47=)	KIRREL2, NPHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 56440	NM_004646.4(NPHS1):c.139del (p.Ala47fs)	KIRREL2, NPHS1 (A47fs)	Deletion (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 2982953	NM_004646.4(NPHS1):c.138G>A (p.Gly46=)	KIRREL2, NPHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2549517	NM_004646.4(NPHS1):c.137G>A (p.Gly46Glu)	KIRREL2, NPHS1 (G46E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2855755	NM_004646.4(NPHS1):c.135G>A (p.Glu45=)	KIRREL2, NPHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2702250	NM_004646.4(NPHS1):c.134_135del (p.Glu45fs)	KIRREL2, NPHS1 (E45fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2677295	NM_004646.4(NPHS1):c.133dup (p.Glu45fs)	KIRREL2, NPHS1 (E45fs)	Duplication (frameshift variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 2153700	NM_004646.4(NPHS1):c.133G>A (p.Glu45Lys)	KIRREL2, NPHS1 (E45K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1555106	NM_004646.4(NPHS1):c.129G>A (p.Val43=)	KIRREL2, NPHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1136903	NM_004646.4(NPHS1):c.129G>C (p.Val43=)	KIRREL2, NPHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 259483	NM_004646.4(NPHS1):c.128T>C (p.Val43Ala)	KIRREL2, NPHS1 (V43A)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 737074	NM_004646.4(NPHS1):c.126G>T (p.Thr42=)	KIRREL2, NPHS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1115391	NM_004646.4(NPHS1):c.123G>C (p.Leu41=)	KIRREL2, NPHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 56431	NM_004646.4(NPHS1):c.121_122del (p.Leu41fs)	KIRREL2, NPHS1 (L41fs)	Deletion (frameshift variant)	NPHS1-related disorder +2 more	GPathogenic
Select item 328883	NM_004646.4(NPHS1):c.115G>A (p.Glu39Lys)	KIRREL2, NPHS1 (E39K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 3239966	NM_004646.4(NPHS1):c.111delinsTT (p.Pro38fs)	KIRREL2, NPHS1 (P38fs)	Indel (frameshift variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 2677304	NM_004646.4(NPHS1):c.109dup (p.Leu37fs)	KIRREL2, NPHS1 (L37fs)	Duplication (frameshift variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 1995431	NM_004646.4(NPHS1):c.108C>A (p.Ala36=)	KIRREL2, NPHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1378967	NM_004646.4(NPHS1):c.105G>A (p.Trp35Ter)	KIRREL2, NPHS1 (W35*)	Single nucleotide variant (nonsense)	Finnish congenital nephrotic syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2779659	NM_004646.4(NPHS1):c.104G>A (p.Trp35Ter)	KIRREL2, NPHS1 (W35*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2875906	NM_004646.4(NPHS1):c.103del (p.Trp35fs)	KIRREL2, NPHS1 (W35fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1147992	NM_004646.4(NPHS1):c.99C>G (p.Gly33=)	KIRREL2, NPHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3065434	NM_004646.4(NPHS1):c.95G>A (p.Arg32Gln)	KIRREL2, NPHS1 (R32Q)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome	GUncertain significance
Select item 2732110	NM_004646.4(NPHS1):c.94C>T (p.Arg32Trp)	KIRREL2, NPHS1 (R32W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1725073	NM_004646.4(NPHS1):c.94del (p.Arg32fs)	KIRREL2, NPHS1 (R32fs)	Deletion (frameshift variant)	Finnish congenital nephrotic syndrome	GLikely pathogenic
Select item 1073424	NM_004646.4(NPHS1):c.90del (p.Arg32fs)	KIRREL2, NPHS1 (R32fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2132576	NM_004646.4(NPHS1):c.87C>A (p.Ser29=)	KIRREL2, NPHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1158836	NM_004646.4(NPHS1):c.87C>T (p.Ser29=)	KIRREL2, NPHS1	Single nucleotide variant (synonymous variant)	Finnish congenital nephrotic syndrome +1 more	GLikely benign
Select item 1143106	NM_004646.4(NPHS1):c.87C>G (p.Ser29=)	KIRREL2, NPHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1444767	NM_004646.4(NPHS1):c.86C>T (p.Ser29Phe)	KIRREL2, NPHS1 (S29F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 798426	NM_004646.4(NPHS1):c.84C>T (p.Ala28=)	KIRREL2, NPHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2487544	NM_004646.4(NPHS1):c.83C>T (p.Ala28Val)	KIRREL2, NPHS1 (A28V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216461	NM_004646.4(NPHS1):c.82G>C (p.Ala28Pro)	KIRREL2, NPHS1 (A28P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2763016	NM_004646.4(NPHS1):c.81T>G (p.Pro27=)	KIRREL2, NPHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1607626	NM_004646.4(NPHS1):c.75G>C (p.Ala25=)	KIRREL2, NPHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1111286	NM_004646.4(NPHS1):c.75G>A (p.Ala25=)	KIRREL2, NPHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2733238	NM_004646.4(NPHS1):c.74C>T (p.Ala25Val)	KIRREL2, NPHS1 (A25V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1726198	NM_004646.4(NPHS1):c.71T>A (p.Leu24Ter)	KIRREL2, NPHS1 (L24*)	Single nucleotide variant (nonsense)	Finnish congenital nephrotic syndrome	GLikely pathogenic

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