C0730379[trait identifier] AND "Molecular Genetics laboratory, Necker - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1328402	NM_001384479.1(AGT):c.1263dup (p.Glu422Ter)	AGT (E422*)	Duplication (nonsense)	Large fontanelles +1 more	GLikely pathogenic
Select item 1328401	NM_001384479.1(AGT):c.161_162delinsT (p.Lys54fs)	AGT (K54fs)	Indel (frameshift variant)	Large fontanelles +1 more	GLikely pathogenic
Select item 1328411	NM_001384479.1(AGT):c.76C>T (p.Arg26Trp)	AGT (R26W)	Single nucleotide variant (missense variant)	Essential hypertension, genetic +2 more	GConflicting classifications of pathogenicity
Select item 1328415	NM_153240.5(NPHP3):c.3412_3413del (p.Leu1138fs)	NPHP3, NPHP3-ACAD11 (L1138fs)	Deletion (non-coding transcript variant +1 more)	Enlarged kidney +2 more	GLikely pathogenic
Select item 1328414	NM_153240.5(NPHP3):c.2279_2280insT (p.Asn761fs)	NPHP3, NPHP3-ACAD11 (N761fs)	Insertion (non-coding transcript variant +1 more)	Enlarged kidney +2 more	GLikely pathogenic
Select item 1328412	NM_000685.5(AGTR1):c.377G>C (p.Arg126Pro)	AGTR1 (R126P)	Single nucleotide variant (missense variant)	Renal dysplasia, cystic, susceptibility to +1 more	GUncertain significance
Select item 1328423	NM_016306.6(DNAJB11):c.600-2A>C	DNAJB11	Single nucleotide variant (splice acceptor variant)	Enlarged kidney +2 more	GLikely pathogenic
Select item 1328405	NM_000297.4(PKD2):c.916C>G (p.Arg306Gly)	PKD2 (R306G)	Single nucleotide variant (missense variant +1 more)	Multiple renal cysts +2 more	GUncertain significance
Select item 1328420	NM_000297.4(PKD2):c.2020-2del	PKD2	Deletion (splice acceptor variant)	Enlarged kidney +3 more	GLikely pathogenic
Select item 1328419	NM_138694.4(PKHD1):c.11421del (p.Asp3808fs)	PKHD1 (D3808fs)	Deletion (frameshift variant)	Enlarged kidney +2 more	GPathogenic
Select item 1328418	NM_138694.4(PKHD1):c.10287dup (p.Val3430fs)	PKHD1 (V3430fs)	Duplication (frameshift variant)	Enlarged kidney +3 more	GPathogenic
Select item 1328403	NM_138694.4(PKHD1):c.8852G>T (p.Gly2951Val)	PKHD1 (G2951V)	Single nucleotide variant (missense variant)	Multiple renal cysts +1 more	GUncertain significance
Select item 1328417	NM_138694.4(PKHD1):c.1694-74_1837-287del	PKHD1	Deletion (splice acceptor variant +1 more)	Anhydramnios +3 more	GPathogenic
Select item 1328404	NM_138694.4(PKHD1):c.654_662del (p.Glu218_Tyr221delinsAsp)	PKHD1	Deletion (inframe_indel)	Multiple renal cysts +1 more	GUncertain significance
Select item 1328416	NM_138694.4(PKHD1):c.444_445del (p.Pro149fs)	PKHD1 (P149fs)	Deletion (frameshift variant)	Enlarged kidney +3 more	GPathogenic
Select item 1328426	NM_000503.6(EYA1):c.1496_1499del (p.Ile498_Leu499insTer)	EYA1	Deletion (nonsense)	Bilateral renal agenesis +1 more	GPathogenic
Select item 1328425	NM_153704.6(TMEM67):c.651+2T>C	TMEM67	Single nucleotide variant (splice donor variant)	Enlarged kidney +2 more	GLikely pathogenic
Select item 1328424	NM_153704.6(TMEM67):c.1981_1982delinsT (p.Ala661fs)	TMEM67 (A580fs +1 more)	Indel (frameshift variant +1 more)	Enlarged kidney +2 more	GLikely pathogenic
Select item 1328422	NM_001009944.3(PKD1):c.11156+2T>C	PKD1, PKD1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Enlarged kidney +3 more	GLikely pathogenic
Select item 1328406	NM_001009944.3(PKD1):c.3764G>A (p.Gly1255Asp)	PKD1 (G1255D)	Single nucleotide variant (missense variant)	Multiple renal cysts +1 more	GUncertain significance
Select item 1328413	NM_000789.4(ACE):c.417+5G>A	ACE	Single nucleotide variant (intron variant)	Renal dysplasia, cystic, susceptibility to +1 more	GUncertain significance
Select item 1328408	NM_001142966.3(GREB1L):c.1720+5G>A	GREB1L, LOC101927521	Single nucleotide variant (intron variant)	Renal agenesis +1 more	GUncertain significance
Select item 1328407	NM_001142966.3(GREB1L):c.2441T>C (p.Leu814Pro)	GREB1L (L814P)	Single nucleotide variant (missense variant)	Renal agenesis +1 more	GUncertain significance
Select item 1328409	NM_001142966.3(GREB1L):c.3170G>C (p.Arg1057Pro)	GREB1L (R1057P)	Single nucleotide variant (missense variant)	Renal agenesis +1 more	GUncertain significance

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Items: 24