ClinVar for MedGen (Select 1626497) - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3258108	NM_001142966.3(GREB1L):c.1394G>A (p.Gly465Asp)	GREB1L, LOC101927521 (G508D +1 more)	Single nucleotide variant (missense variant +1 more)	Renal hypodysplasia/aplasia 3	GUncertain significance
Select item 3256661	NM_001142966.3(GREB1L):c.3907del (p.Asp1303fs)	GREB1L (D1194fs +2 more)	Deletion (frameshift variant)	Renal hypodysplasia/aplasia 3	GLikely pathogenic
Select item 3238846	NM_001142966.3(GREB1L):c.3849_3850del (p.Tyr1284fs)	GREB1L (Y1175fs +2 more)	Microsatellite (frameshift variant)	Renal hypodysplasia/aplasia 3	GLikely pathogenic
Select item 3238805	NM_001142966.3(GREB1L):c.3944G>A (p.Arg1315Gln)	GREB1L (R1206Q +2 more)	Single nucleotide variant (missense variant)	Renal hypodysplasia/aplasia 3	GUncertain significance
Select item 3236252	NM_001142966.3(GREB1L):c.2125A>G (p.Ile709Val)	GREB1L (I600V +2 more)	Single nucleotide variant (missense variant)	Renal hypodysplasia/aplasia 3	GUncertain significance
Select item 3236038	NM_001142966.3(GREB1L):c.1984+5T>C	GREB1L	Single nucleotide variant (intron variant)	Renal hypodysplasia/aplasia 3	GUncertain significance
Select item 3066333	NM_001142966.3(GREB1L):c.1147_1153del (p.Thr383fs)	GREB1L, LOC101927521 (T383fs +1 more)	Deletion (frameshift variant)	Renal hypodysplasia/aplasia 3	GLikely pathogenic
Select item 2627589	NM_001142966.3(GREB1L):c.968G>A (p.Gly323Glu)	LOC101927521, GREB1L (G323E +1 more)	Single nucleotide variant (missense variant)	Renal hypodysplasia/aplasia 3	GUncertain significance
Select item 2626752	NM_001142966.3(GREB1L):c.1975C>T (p.Gln659Ter)	GREB1L (Q550* +2 more)	Single nucleotide variant (nonsense)	Renal hypodysplasia/aplasia 3	GPathogenic
Select item 2581335	NM_001142966.3(GREB1L):c.570dup (p.Phe191fs)	GREB1L, LOC101927521 (F191fs)	Duplication (frameshift variant)	Renal hypodysplasia/aplasia 3	GPathogenic
Select item 2576970	NM_001142966.3(GREB1L):c.3863G>A (p.Trp1288Ter)	GREB1L (W1179* +2 more)	Single nucleotide variant (nonsense)	Renal hypodysplasia/aplasia 3	GLikely pathogenic
Select item 2506468	NM_001142966.3(GREB1L):c.3704C>A (p.Ser1235Tyr)	GREB1L (S1126Y +2 more)	Single nucleotide variant (missense variant)	Renal hypodysplasia/aplasia 3	GLikely pathogenic
Select item 2498134	NM_001142966.3(GREB1L):c.4881_4882del (p.His1627fs)	GREB1L (H1518fs +2 more)	Microsatellite (frameshift variant)	Renal hypodysplasia/aplasia 3	GLikely pathogenic
Select item 2445216	NM_001142966.3(GREB1L):c.833A>T (p.Asp278Val)	GREB1L, LOC101927521 (D278V +1 more)	Single nucleotide variant (missense variant)	Renal hypodysplasia/aplasia 3	GUncertain significance
Select item 2444520	NM_001142966.3(GREB1L):c.2614_2615del (p.Leu872fs)	GREB1L (L872fs)	Microsatellite (frameshift variant)	Renal hypodysplasia/aplasia 3	GPathogenic
Select item 2442169	NM_001142966.3(GREB1L):c.1984+3A>C	GREB1L	Single nucleotide variant (intron variant)	Renal hypodysplasia/aplasia 3	GLikely pathogenic
Select item 2412755	NM_001142966.3(GREB1L):c.5614dup (p.Thr1872fs)	GREB1L (T1872fs)	Duplication (frameshift variant)	Renal hypodysplasia/aplasia 3	GUncertain significance
Select item 2035914	NM_001142966.3(GREB1L):c.2167C>T (p.Arg723Trp)	GREB1L (R723W +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1712327	NM_001142966.3(GREB1L):c.5246A>T (p.Asp1749Val)	GREB1L (D1640V +2 more)	Single nucleotide variant (missense variant)	Renal hypodysplasia/aplasia 3	GUncertain significance
Select item 1705688	NM_001142966.3(GREB1L):c.4507C>T (p.Arg1503Trp)	GREB1L (R1394W +2 more)	Single nucleotide variant (missense variant)	Renal hypodysplasia/aplasia 3	GUncertain significance
Select item 1333790	NM_001142966.3(GREB1L):c.3197G>A (p.Arg1066His)	GREB1L (R1066H)	Single nucleotide variant (missense variant)	Renal hypodysplasia/aplasia 3	GUncertain significance
Select item 1328379	NM_001142966.3(GREB1L):c.553G>A (p.Gly185Ser)	LOC101927521, GREB1L (G185S)	Single nucleotide variant (missense variant)	Mayer-Rokitansky-Küster-Hauser syndrome type 2	GUncertain significance
Select item 1285305	NM_001142966.3(GREB1L):c.5541T>C (p.Ser1847=)	GREB1L	Single nucleotide variant (synonymous variant)	Renal hypodysplasia/aplasia 3 +2 more	GBenign
Select item 1257141	NM_001142966.3(GREB1L):c.3555A>G (p.Glu1185=)	GREB1L	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1172634	NM_001142966.3(GREB1L):c.2252G>A (p.Arg751His)	GREB1L (R751H)	Single nucleotide variant (missense variant)	Renal hypodysplasia/aplasia 3 +2 more	GConflicting classifications of pathogenicity
Select item 1172554	NM_001142966.3(GREB1L):c.3983del (p.Gly1328fs)	GREB1L (G1328fs)	Deletion (frameshift variant)	Renal hypodysplasia/aplasia 3	GPathogenic
Select item 1172553	NM_001142966.3(GREB1L):c.3977del (p.Lys1326fs)	GREB1L (K1326fs)	Deletion (frameshift variant)	Renal hypodysplasia/aplasia 3	GPathogenic
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 1033328	NM_001142966.3(GREB1L):c.5650C>T (p.Arg1884Cys)	GREB1L (R1884C)	Single nucleotide variant (missense variant)	Mayer Rokitansky Kuster Hauser syndrome type 1 +1 more	GUncertain significance
Select item 1033327	NM_001142966.3(GREB1L):c.3364A>T (p.Asn1122Tyr)	GREB1L (N1122Y)	Single nucleotide variant (missense variant)	Renal hypodysplasia/aplasia 3	GUncertain significance
Select item 989324	NM_001142966.3(GREB1L):c.3176T>C (p.Ile1059Thr)	GREB1L (I1059T)	Single nucleotide variant (missense variant)	Renal hypodysplasia/aplasia 3	GUncertain significance
Select item 982418	NM_001142966.3(GREB1L):c.157+1del	GREB1L, LOC101927521	Deletion (splice donor variant)	Renal hypodysplasia/aplasia 3	GLikely pathogenic
Select item 974522	NM_001142966.3(GREB1L):c.5074G>T (p.Asp1692Tyr)	GREB1L (D1692Y)	Single nucleotide variant (missense variant)	Renal hypodysplasia/aplasia 3	GLikely pathogenic
Select item 917910	NM_001142966.3(GREB1L):c.277G>A (p.Glu93Lys)	GREB1L, LOC101927521 (E93K)	Single nucleotide variant (missense variant)	Mayer-Rokitansky-Kuster-Hauser syndrome +2 more	GConflicting classifications of pathogenicity
Select item 917909	NM_001142966.3(GREB1L):c.3492G>T (p.Gly1164=)	GREB1L	Single nucleotide variant (synonymous variant)	Mayer-Rokitansky-Kuster-Hauser syndrome +1 more	GUncertain significance
Select item 917908	NM_001142966.3(GREB1L):c.1936T>C (p.Cys646Arg)	GREB1L (C646R)	Single nucleotide variant (missense variant)	Mayer-Rokitansky-Kuster-Hauser syndrome +1 more	GUncertain significance
Select item 917907	NM_001142966.3(GREB1L):c.3983G>A (p.Gly1328Asp)	GREB1L (G1328D)	Single nucleotide variant (missense variant)	Mayer-Rokitansky-Kuster-Hauser syndrome +1 more	GUncertain significance
Select item 917906	NM_001142966.3(GREB1L):c.1852G>A (p.Asp618Asn)	GREB1L (D618N)	Single nucleotide variant (missense variant)	Mayer-Rokitansky-Kuster-Hauser syndrome +1 more	GUncertain significance
Select item 917905	NM_001142966.3(GREB1L):c.2312C>T (p.Pro771Leu)	GREB1L (P771L)	Single nucleotide variant (missense variant)	Mayer-Rokitansky-Kuster-Hauser syndrome +1 more	GUncertain significance
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 917903	NM_001142966.3(GREB1L):c.5198A>G (p.Asn1733Ser)	GREB1L (N1733S)	Single nucleotide variant (missense variant)	Mayer-Rokitansky-Kuster-Hauser syndrome +1 more	GUncertain significance
Select item 917902	NM_001142966.3(GREB1L):c.2227del (p.Gln743fs)	GREB1L (Q743fs)	Deletion (frameshift variant)	Mayer-Rokitansky-Kuster-Hauser syndrome +1 more	GPathogenic
Select item 917901	NM_001142966.3(GREB1L):c.2787_2788del (p.Asp930fs)	GREB1L (D930fs)	Microsatellite (frameshift variant)	Mayer-Rokitansky-Kuster-Hauser syndrome +1 more	GPathogenic
Select item 917711	NM_001142966.3(GREB1L):c.5622T>A (p.Cys1874Ter)	GREB1L (C1874*)	Single nucleotide variant (nonsense)	Renal hypodysplasia/aplasia 3	GLikely pathogenic
Select item 692049	NM_001142966.3(GREB1L):c.3194C>T (p.Thr1065Ile)	GREB1L (T1065I)	Single nucleotide variant (missense variant)	Renal hypodysplasia/aplasia 3	GLikely pathogenic
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 453284	NM_001142966.3(GREB1L):c.2251C>T (p.Arg751Cys)	GREB1L (R751C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 453282	NM_001142966.3(GREB1L):c.1780G>T (p.Glu594Ter)	GREB1L (E594*)	Single nucleotide variant (nonsense)	Renal hypodysplasia/aplasia 3	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 453280	NM_001142966.3(GREB1L):c.1582del (p.Gln528fs)	GREB1L, LOC101927521 (Q528fs)	Deletion (frameshift 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 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 453277	NM_001142966.3(GREB1L):c.4700T>C (p.Leu1567Pro)	GREB1L (L1567P)	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 453275	NM_001142966.3(GREB1L):c.4000dup (p.Leu1334fs)	GREB1L (L1334fs)	Duplication (frameshift variant)	Renal hypodysplasia/aplasia 3	GPathogenic
Select item 453274	NM_001142966.3(GREB1L):c.5608+1del	GREB1L	Deletion (splice donor variant)	Renal hypodysplasia/aplasia 3	GPathogenic
Select item 453273	NM_001142966.3(GREB1L):c.5378T>G (p.Leu1793Arg)	GREB1L (L1793R)	Single nucleotide variant (missense variant)	not provided	GPathogenic

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Items: 58