"GeneDx"[submitter] AND "LMX1B"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59125	GRCh38/hg38 9q33.3-34.11(chr9:125993583-129682375)x1	AK1, ANGPTL2 +309 more	Copy number loss	See cases	GPathogenic
Select item 1230698	NM_001174147.2(LMX1B):c.139+209C>T	LMX1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225663	NM_001174147.2(LMX1B):c.139+295G>A	LMX1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262332	NM_001174147.2(LMX1B):c.140-266A>G	LMX1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 379916	NM_001174147.2(LMX1B):c.226T>G (p.Trp76Gly)	LMX1B (W76G)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 265489	NM_001174147.2(LMX1B):c.227G>A (p.Trp76Ter)	LMX1B (W76*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 7005	NM_001174147.2(LMX1B):c.244C>T (p.Gln82Ter)	LMX1B (Q82*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 432312	NM_001174147.2(LMX1B):c.257G>A (p.Cys86Tyr)	LMX1B (C86Y)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1165914	NM_001174147.2(LMX1B):c.295C>A (p.Arg99=)	LMX1B	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 7004	NM_001174147.2(LMX1B):c.303_304del (p.Tyr102fs)	LMX1B (Y102fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1271513	NM_001174147.2(LMX1B):c.326+178G>C	LMX1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296569	NM_001174147.2(LMX1B):c.327-338A>G	LMX1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268989	NM_001174147.2(LMX1B):c.327-318A>G	LMX1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249448	NM_001174147.2(LMX1B):c.327-283T>A	LMX1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239330	NM_001174147.2(LMX1B):c.327-273G>A	LMX1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 258625	NM_001174147.2(LMX1B):c.441A>G (p.Glu147=)	LMX1B	Single nucleotide variant (synonymous variant)	Nail-patella-like renal disease +3 more	GBenign
Select item 1723475	NM_001174147.2(LMX1B):c.442C>T (p.Arg148Trp)	LMX1B (R148W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1316843	NM_001174147.2(LMX1B):c.508G>A (p.Glu170Lys)	LMX1B (E170K)	Single nucleotide variant (missense variant)	Nail-patella-like renal disease +2 more	GUncertain significance
Select item 720442	NM_001174147.2(LMX1B):c.534C>A (p.Ser178=)	LMX1B	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 364879	NM_001174147.2(LMX1B):c.552C>T (p.Ser184=)	LMX1B	Single nucleotide variant (synonymous variant)	Nail-patella syndrome +3 more	GBenign/Likely benign
Select item 258627	NM_001174147.2(LMX1B):c.559+20G>A	LMX1B	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1207692	NM_001174147.2(LMX1B):c.560-214G>A	LMX1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203082	NM_001174147.2(LMX1B):c.560-175T>C	LMX1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193545	NM_001174147.2(LMX1B):c.560-87A>G	LMX1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1265768	NM_001174147.2(LMX1B):c.560-49C>T	LMX1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1206608	NM_001174147.2(LMX1B):c.560-28A>C	LMX1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 258628	NM_001174147.2(LMX1B):c.560-19C>T	LMX1B	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 7007	NM_001174147.2(LMX1B):c.668G>A (p.Arg223Gln)	LMX1B (R223Q)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 7006	NM_001174147.2(LMX1B):c.691C>T (p.Arg231Ter)	LMX1B (R231*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 976712	NM_001174147.2(LMX1B):c.706G>C (p.Ala236Pro)	LMX1B (A236P)	Single nucleotide variant (missense variant)	Nail-patella syndrome +2 more	GPathogenic
Select item 258629	NM_001174147.2(LMX1B):c.726G>C (p.Ser242=)	LMX1B	Single nucleotide variant (synonymous variant)	Nail-patella-like renal disease +3 more	GBenign
Select item 488835	NM_001174147.2(LMX1B):c.736C>T (p.Arg246Ter)	LMX1B (R246*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 498798	NM_001174147.2(LMX1B):c.737G>A (p.Arg246Gln)	LMX1B (R246Q)	Single nucleotide variant (missense variant)	Nail-patella syndrome +4 more	GPathogenic
Select item 364885	NM_001174147.2(LMX1B):c.742-7G>C	LMX1B	Single nucleotide variant (intron variant)	Nail-patella syndrome +1 more	GUncertain significance
Select item 7010	NM_001174147.2(LMX1B):c.745C>T (p.Arg249Ter)	LMX1B (R249*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 265491	NM_001174147.2(LMX1B):c.781C>T (p.Arg261Cys)	LMX1B (R261C)	Single nucleotide variant (missense variant)	Nail-patella syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1328638	NM_001174147.2(LMX1B):c.819+53G>A	LMX1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2572003	NM_001174147.2(LMX1B):c.871C>T (p.Gln291Ter)	LMX1B (Q291*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1315701	NM_001174147.2(LMX1B):c.883C>A (p.Gln295Lys)	LMX1B (Q295K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1218881	NM_001174147.2(LMX1B):c.887-77T>A	LMX1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1281138	NM_001174147.2(LMX1B):c.887-26G>T	LMX1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 258631	NM_001174147.2(LMX1B):c.930G>A (p.Thr310=)	LMX1B	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 1263311	NM_001174147.2(LMX1B):c.1051+19A>C	LMX1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222677	NM_001174147.2(LMX1B):c.1051+23G>C	LMX1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268596	NM_001174147.2(LMX1B):c.1051+27G>C	LMX1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1214573	NM_001174147.2(LMX1B):c.1051+27G>A	LMX1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1328797	NM_001174147.2(LMX1B):c.1051+92C>A	LMX1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 258620	NM_001174147.2(LMX1B):c.1107C>T (p.Ser369=)	LMX1B	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 364890	NM_001174147.2(LMX1B):c.*27G>A	LMX1B	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 364892	NM_001174147.2(LMX1B):c.*51A>G	LMX1B	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 364894	NM_001174147.2(LMX1B):c.*79G>A	LMX1B	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 364895	NM_001174147.2(LMX1B):c.*127C>T	LMX1B	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 364901	NM_001174147.2(LMX1B):c.*280G>A	LMX1B	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ANGPTL2, ANKRD18A +771 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 54