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

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Search results

Items: 59

	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 3340278	NM_001174147.2(LMX1B):c.313C>T (p.Gln105Ter)	LMX1B (Q105*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
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)	not specified +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)	Focal segmental glomerulosclerosis +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)	Inborn genetic diseases +1 more	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)	Nail-patella syndrome +1 more	GPathogenic
Select item 498798	NM_001174147.2(LMX1B):c.737G>A (p.Arg246Gln)	LMX1B (R246Q)	Single nucleotide variant (missense variant)	Inherited focal segmental glomerulosclerosis +3 more	GPathogenic
Select item 3373650	NM_001174147.2(LMX1B):c.741+3G>C	LMX1B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 3252543	NM_001174147.2(LMX1B):c.751A>G (p.Thr251Ala)	LMX1B (T251A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 +1 more	GBenign
Select item 258631	NM_001174147.2(LMX1B):c.930G>A (p.Thr310=)	LMX1B	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis +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 specified +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)	Nail-patella syndrome +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	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 3360997	NM_001174147.2(LMX1B):c.560-9C>G	LMX1B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3360996	NM_001174147.2(LMX1B):c.61_63dup (p.Cys21_Ala22insCys)	LMX1B	Duplication (inframe_insertion)	not provided	GUncertain significance

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Items: 59