C1968949[trait identifier] AND "Yale Center for Mendelian Genomics, Ya - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 499260	NM_015102.5(NPHP4):c.3983C>T (p.Pro1328Leu)	NPHP4 (P1328L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1344621	NM_001128178.3(NPHP1):c.1636del (p.Ser546fs)	NPHP1 (S483fs +4 more)	Deletion (frameshift variant)	Congenital anomaly of kidney and urinary tract	GPathogenic
Select item 995966	NM_001395656.1(ROBO2):c.292G>T (p.Gly98Trp)	ROBO2 (G114W +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital anomaly of kidney and urinary tract	GUncertain significance
Select item 684623	NM_004787.4(SLIT2):c.292G>A (p.Ala98Thr)	SLIT2 (A98T)	Single nucleotide variant (missense variant)	Congenital anomaly of kidney and urinary tract	GPathogenic
Select item 633691	NM_004787.4(SLIT2):c.1697G>A (p.Ser566Asn)	SLIT2 (S566N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 684624	NM_004787.4(SLIT2):c.2712A>T (p.Lys904Asn)	SLIT2 (K896N +2 more)	Single nucleotide variant (missense variant)	Congenital anomaly of kidney and urinary tract	GPathogenic
Select item 1344614	NM_025074.7(FRAS1):c.3998T>C (p.Val1333Ala)	FRAS1 (V1333A)	Single nucleotide variant (missense variant)	Congenital anomaly of kidney and urinary tract	GLikely pathogenic
Select item 1344615	NM_025074.7(FRAS1):c.8131T>C (p.Tyr2711His)	FRAS1 (Y2711H)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 813916	NM_001291303.3(FAT4):c.9279A>C (p.Gln3093His)	FAT4 (Q3091H +1 more)	Single nucleotide variant (missense variant)	See cases +2 more	GUncertain significance
Select item 813917	NM_001291303.3(FAT4):c.9313A>G (p.Ser3105Gly)	FAT4 (S3105G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1344727	NM_001453.3(FOXC1):c.176G>T (p.Gly59Val)	FOXC1 (G59V)	Single nucleotide variant (missense variant)	Congenital anomaly of kidney and urinary tract	GLikely pathogenic
Select item 1344728	NM_001453.3(FOXC1):c.207GCAGCC[3] (p.70QP[3])	FOXC1	Microsatellite (inframe_insertion)	Congenital anomaly of kidney and urinary tract	GLikely pathogenic
Select item 1344729	NM_001453.3(FOXC1):c.430AAG[1] (p.Lys145del)	FOXC1 (K145del)	Microsatellite (inframe_deletion)	Congenital anomaly of kidney and urinary tract	GLikely pathogenic
Select item 1344730	NM_001453.3(FOXC1):c.926_940del (p.Ser309_Ile313del)	FOXC1	Deletion (inframe_deletion)	Anterior segment dysgenesis 3 +1 more	GUncertain significance
Select item 1344731	NM_001453.3(FOXC1):c.1025C>T (p.Ala342Val)	FOXC1 (A342V)	Single nucleotide variant (missense variant)	Congenital anomaly of kidney and urinary tract	GLikely pathogenic
Select item 1344734	NM_001453.3(FOXC1):c.1090C>T (p.Pro364Ser)	FOXC1 (P364S)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 1344735	NM_001453.3(FOXC1):c.1139G>T (p.Gly380Val)	FOXC1 (G380V)	Single nucleotide variant (missense variant)	Congenital anomaly of kidney and urinary tract	GLikely pathogenic
Select item 1344613	NM_001080508.3(TBX18):c.1802A>G (p.Gln601Arg)	TBX18 (Q601R)	Single nucleotide variant (missense variant)	Congenital anomaly of kidney and urinary tract	GLikely pathogenic
Select item 208527	NM_001080508.3(TBX18):c.1010del (p.Gly337fs)	TBX18 (G337fs)	Deletion (frameshift variant)	Congenital anomaly of kidney and urinary tract +1 more	GPathogenic/Likely pathogenic
Select item 5578	NM_014112.5(TRPS1):c.2795C>T (p.Ala932Val)	TRPS1 (A932V +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 1344619	NM_012330.4(KAT6B):c.4285G>A (p.Glu1429Lys)	KAT6B (E1074K +7 more)	Single nucleotide variant (missense variant)	Genitopatellar syndrome	GBenign
Select item 1344620	NM_021828.5(HPSE2):c.1099-2A>G	HPSE2	Single nucleotide variant (splice acceptor variant)	Congenital anomaly of kidney and urinary tract	GPathogenic
Select item 89	NM_021828.5(HPSE2):c.457C>T (p.Arg153Ter)	HPSE2 (R153*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 156297	NM_000278.5(PAX2):c.76dup (p.Val26fs)	PAX2 (V26fs +1 more)	Duplication (frameshift variant)	not provided +3 more	GPathogenic
Select item 684621	NM_020762.4(SRGAP1):c.806G>A (p.Cys269Tyr)	SRGAP1 (C269Y)	Single nucleotide variant (missense variant)	Nephronophthisis	GUncertain significance
Select item 684622	NM_020762.4(SRGAP1):c.1993C>A (p.Pro665Thr)	SRGAP1 (P642T +1 more)	Single nucleotide variant (missense variant)	Congenital anomalies of kidney and urinary tract 1	GUncertain significance
Select item 1344767	NM_197968.4(ZMYM2):c.622C>T (p.Arg208Ter)	ZMYM2 (R208*)	Single nucleotide variant (nonsense +2 more)	Congenital anomaly of kidney and urinary tract	GLikely pathogenic
Select item 1264314	NM_197968.4(ZMYM2):c.766_767dup (p.Val256_Gly257insTer)	ZMYM2	Duplication (frameshift variant +1 more)	Congenital anomaly of kidney and urinary tract +1 more	GPathogenic/Likely pathogenic
Select item 1344768	NM_197968.4(ZMYM2):c.1192C>T (p.Gln398Ter)	ZMYM2 (Q311* +2 more)	Single nucleotide variant (nonsense +1 more)	Congenital anomaly of kidney and urinary tract	GLikely pathogenic
Select item 1344769	NM_197968.4(ZMYM2):c.1367dup (p.Tyr456Ter)	ZMYM2 (Y369* +2 more)	Duplication (nonsense +1 more)	Congenital anomaly of kidney and urinary tract	GLikely pathogenic
Select item 1264313	NM_197968.4(ZMYM2):c.1607del (p.Cys536fs)	ZMYM2 (C449fs +2 more)	Deletion (frameshift variant +1 more)	Congenital anomaly of kidney and urinary tract +1 more	GPathogenic/Likely pathogenic
Select item 1264312	NM_197968.4(ZMYM2):c.1618C>T (p.Arg540Ter)	ZMYM2 (R540* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1344770	NM_197968.4(ZMYM2):c.1623_1627del (p.Cys543fs)	ZMYM2 (C456fs +2 more)	Deletion (frameshift variant +1 more)	Congenital anomaly of kidney and urinary tract	GLikely pathogenic
Select item 1344771	NM_197968.4(ZMYM2):c.2165T>A (p.Leu722Ter)	ZMYM2 (L635* +2 more)	Single nucleotide variant (nonsense +1 more)	Congenital anomaly of kidney and urinary tract	GLikely pathogenic
Select item 1325743	NM_197968.4(ZMYM2):c.2338C>T (p.Arg780Ter)	ZMYM2 (R693* +2 more)	Single nucleotide variant (nonsense +1 more)	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities +2 more	GPathogenic/Likely pathogenic
Select item 1264315	NM_197968.4(ZMYM2):c.2434_2437del (p.Lys812fs)	ZMYM2 (K725fs +2 more)	Deletion (frameshift variant +1 more)	Congenital anomaly of kidney and urinary tract +1 more	GPathogenic/Likely pathogenic
Select item 1264316	NM_197968.4(ZMYM2):c.2494-1G>A	ZMYM2	Single nucleotide variant (splice acceptor variant)	Congenital anomaly of kidney and urinary tract +1 more	GPathogenic/Likely pathogenic
Select item 1264317	NM_197968.4(ZMYM2):c.3130_3131dup (p.Gly1045fs)	ZMYM2 (G1045fs +2 more)	Duplication (frameshift variant +1 more)	Congenital anomaly of kidney and urinary tract +1 more	GPathogenic/Likely pathogenic
Select item 1344772	NM_197968.4(ZMYM2):c.3176dup (p.Asp1059fs)	ZMYM2 (D1059fs +2 more)	Duplication (frameshift variant +1 more)	Congenital anomaly of kidney and urinary tract	GLikely pathogenic
Select item 1344773	NM_197968.4(ZMYM2):c.3246G>A (p.Trp1082Ter)	ZMYM2 (W1017* +2 more)	Single nucleotide variant (nonsense +1 more)	Congenital anomaly of kidney and urinary tract	GLikely pathogenic
Select item 1344610	NM_207361.6(FREM2):c.649C>T (p.Arg217Cys)	FREM2 (R217C)	Single nucleotide variant (missense variant)	Congenital anomaly of kidney and urinary tract	GLikely pathogenic
Select item 311971	NM_207361.6(FREM2):c.4031G>A (p.Arg1344His)	FREM2 (R1344H)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 435265	NM_207361.6(FREM2):c.7535G>A (p.Arg2512His)	FREM2 (R2512H)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1344678	NM_001845.6(COL4A1):c.4717G>A (p.Gly1573Arg)	COL4A1 (G1573R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 872456	NM_001845.6(COL4A1):c.4213G>A (p.Gly1405Ser)	COL4A1 (G1405S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1163068	NM_001845.6(COL4A1):c.3997G>A (p.Asp1333Asn)	COL4A1 (D1333N)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 1027964	NM_001845.6(COL4A1):c.3704A>G (p.Lys1235Arg)	COL4A1 (K1235R)	Single nucleotide variant (missense variant)	Retinal arterial tortuosity +1 more	GUncertain significance
Select item 1344677	NM_001845.6(COL4A1):c.3671C>T (p.Pro1224Leu)	COL4A1 (P1224L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1344676	NM_001845.6(COL4A1):c.2782G>C (p.Asp928His)	COL4A1 (D928H)	Single nucleotide variant (missense variant)	Congenital anomaly of kidney and urinary tract	GLikely pathogenic
Select item 884075	NM_001845.6(COL4A1):c.2641A>G (p.Met881Val)	COL4A1 (M881V)	Single nucleotide variant (missense variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1344675	NM_001845.6(COL4A1):c.2512A>G (p.Met838Val)	COL4A1 (M838V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 522668	NM_001845.6(COL4A1):c.1807C>T (p.Pro603Ser)	COL4A1 (P603S)	Single nucleotide variant (missense variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +1 more	GConflicting classifications of pathogenicity
Select item 807047	NM_001845.6(COL4A1):c.196C>A (p.Gln66Lys)	COL4A1 (Q66K)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 559147	NM_016292.3(TRAP1):c.1406G>A (p.Arg469His)	DNASE1, TRAP1 (R469H +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1344617	NM_002968.3(SALL1):c.1666G>A (p.Gly556Ser)	SALL1 (G459S +1 more)	Single nucleotide variant (missense variant)	Congenital anomaly of kidney and urinary tract	GLikely pathogenic
Select item 771794	NM_002968.3(SALL1):c.703G>A (p.Ala235Thr)	SALL1 (A235T +1 more)	Single nucleotide variant (missense variant)	Townes-Brocks syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 635014	NM_001077418.3(TMEM231):c.119T>G (p.Leu40Arg)	TMEM231 (W61G +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 11	GUncertain significance
Select item 1344612	NM_001012759.3(CTU2):c.1399C>T (p.Arg467Cys)	CTU2 (R380C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 635613	NM_000458.4(HNF1B):c.1024T>C (p.Ser342Pro)	HNF1B (S342P +1 more)	Single nucleotide variant (missense variant)	Congenital anomaly of kidney and urinary tract +2 more	GConflicting classifications of pathogenicity
Select item 1344611	NM_001079675.5(ETV4):c.1244G>A (p.Arg415His)	DHX8, ETV4 (R138H +4 more)	Single nucleotide variant (missense variant +1 more)	Congenital anomaly of kidney and urinary tract	GLikely pathogenic
Select item 29585	NM_001614.5(ACTG1):c.464C>T (p.Ser155Phe)	ACTG1 (S155F)	Single nucleotide variant (non-coding transcript variant +1 more)	Baraitser-winter syndrome 2 +2 more	GPathogenic
Select item 1344618	NM_001142966.3(GREB1L):c.4276G>A (p.Val1426Ile)	GREB1L (V1426I)	Single nucleotide variant (missense variant)	Congenital anomaly of kidney and urinary tract	GLikely pathogenic
Select item 453278	NM_001142966.3(GREB1L):c.5068G>A (p.Val1690Met)	GREB1L (V1690M)	Single nucleotide variant (missense variant)	Renal hypodysplasia/aplasia 3	GUncertain significance
Select item 548653	NM_003489.4(NRIP1):c.279del (p.Asp92_Trp93insTer)	NRIP1	Deletion (nonsense)	Congenital anomaly of kidney and urinary tract +1 more	GPathogenic

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Items: 64