"OMIM"[submitter] AND "GREB1L"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 929431	NM_001142966.3(GREB1L):c.347C>T (p.Thr116Ile)	GREB1L, LOC101927521 (T116I)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss	GUncertain significance
Select item 1064690	NM_001142966.3(GREB1L):c.705G>T (p.Trp235Cys)	GREB1L, LOC101927521 (W235C)	Single nucleotide variant (missense variant)	Renal hypodysplasia/aplasia 3	GPathogenic
Select item 830361	NM_001142966.3(GREB1L):c.848A>G (p.Asn283Ser)	GREB1L, LOC101927521 (N283S)	Single nucleotide variant (missense variant)	Profound hearing impairment	GLikely pathogenic
Select item 446526	NM_001142966.3(GREB1L):c.982C>T (p.Arg328Ter)	GREB1L, LOC101927521 (R328*)	Single nucleotide variant (nonsense)	Inner ear malformation +1 more	GPathogenic
Select item 453285	NM_001142966.3(GREB1L):c.983G>A (p.Arg328Gln)	GREB1L, LOC101927521 (R328Q)	Single nucleotide variant (missense variant)	Renal hypodysplasia/aplasia 3	GPathogenic
Select item 453280	NM_001142966.3(GREB1L):c.1582del (p.Gln528fs)	GREB1L, LOC101927521 (Q528fs)	Deletion (frameshift variant)	Renal hypodysplasia/aplasia 3	GPathogenic
Select item 453282	NM_001142966.3(GREB1L):c.1780G>T (p.Glu594Ter)	GREB1L (E594*)	Single nucleotide variant (nonsense)	Renal hypodysplasia/aplasia 3	GPathogenic
Select item 453284	NM_001142966.3(GREB1L):c.2251C>T (p.Arg751Cys)	GREB1L (R751C)	Single nucleotide variant (missense variant)	Renal hypodysplasia/aplasia 3	GPathogenic
Select item 453279	NM_001142966.3(GREB1L):c.3295C>T (p.Gln1099Ter)	GREB1L (Q1099*)	Single nucleotide variant (nonsense)	Renal hypodysplasia/aplasia 3	GPathogenic
Select item 917904	NM_001142966.3(GREB1L):c.3970-20A>G	GREB1L	Single nucleotide variant (intron variant)	Mayer-Rokitansky-Kuster-Hauser syndrome +1 more	GLikely pathogenic
Select item 453275	NM_001142966.3(GREB1L):c.4000dup (p.Leu1334fs)	GREB1L (L1334fs)	Duplication (frameshift variant)	Renal hypodysplasia/aplasia 3	GPathogenic
Select item 446527	NM_001142966.3(GREB1L):c.4368G>T (p.Gln1456His)	GREB1L (Q1456H)	Single nucleotide variant (missense variant)	Hearing loss, autosomal dominant 80 +1 more	GPathogenic
Select item 453281	NM_001142966.3(GREB1L):c.4369-1G>C	GREB1L	Single nucleotide variant (splice acceptor variant)	Renal hypodysplasia/aplasia 3	GPathogenic
Select item 453283	NM_001142966.3(GREB1L):c.4607A>G (p.His1536Arg)	GREB1L (H1536R)	Single nucleotide variant (missense variant)	Renal hypodysplasia/aplasia 3	GPathogenic
Select item 453276	NM_001142966.3(GREB1L):c.4680C>A (p.Tyr1560Ter)	GREB1L (Y1560*)	Single nucleotide variant (nonsense)	Renal hypodysplasia/aplasia 3	GPathogenic
Select item 453277	NM_001142966.3(GREB1L):c.4700T>C (p.Leu1567Pro)	GREB1L (L1567P)	Single nucleotide variant (missense variant)	Renal hypodysplasia/aplasia 3	GPathogenic
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 453273	NM_001142966.3(GREB1L):c.5378T>G (p.Leu1793Arg)	GREB1L (L1793R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 453274	NM_001142966.3(GREB1L):c.5608+1del	GREB1L	Deletion (splice donor variant)	Renal hypodysplasia/aplasia 3	GPathogenic