ClinVar for MedGen (Select 140789) - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236102	NM_001174147.2(LMX1B):c.224C>T (p.Ser75Phe)	LMX1B (S75F)	Single nucleotide variant (missense variant)	Nail-patella-like renal disease	GUncertain significance
Select item 3235977	NM_001174147.2(LMX1B):c.389G>A (p.Arg130Gln)	LMX1B (R130Q)	Single nucleotide variant (missense variant)	Nail-patella-like renal disease	GUncertain significance
Select item 3068346	NM_001174147.2(LMX1B):c.957del (p.Ile319fs)	LMX1B (I319fs +1 more)	Deletion (frameshift variant)	Nail-patella-like renal disease	GLikely pathogenic
Select item 1665286	NM_001174147.2(LMX1B):c.1052-19C>T	LMX1B	Single nucleotide variant (intron variant)	Nail-patella syndrome +2 more	GLikely benign
Select item 1635927	NM_001174147.2(LMX1B):c.327-17G>A	LMX1B	Single nucleotide variant (intron variant)	Nail-patella syndrome +2 more	GLikely benign
Select item 1607048	NM_001174147.2(LMX1B):c.333C>T (p.Phe111=)	LMX1B	Single nucleotide variant (synonymous variant)	Nail-patella syndrome +2 more	GLikely benign
Select item 1601180	NM_001174147.2(LMX1B):c.570G>A (p.Glu190=)	LMX1B	Single nucleotide variant (synonymous variant)	Nail-patella syndrome +2 more	GBenign/Likely benign
Select item 1564232	NM_001174147.2(LMX1B):c.327-6C>T	LMX1B	Single nucleotide variant (intron variant)	Nail-patella syndrome +2 more	GLikely benign
Select item 1535906	NM_001174147.2(LMX1B):c.648G>A (p.Pro216=)	LMX1B	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1525451	NM_001174147.2(LMX1B):c.349G>A (p.Gly117Ser)	LMX1B (G117S)	Single nucleotide variant (missense variant)	Nail-patella syndrome +2 more	GUncertain significance
Select item 1522456	NM_001174147.2(LMX1B):c.237G>T (p.Glu79Asp)	LMX1B (E79D)	Single nucleotide variant (missense variant)	Nail-patella syndrome +2 more	GUncertain significance
Select item 1495112	NM_001174147.2(LMX1B):c.559G>A (p.Val187Met)	LMX1B (V187M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1357819	NM_001174147.2(LMX1B):c.1201G>A (p.Ala401Thr)	LMX1B (A394T +2 more)	Single nucleotide variant (missense variant)	Nail-patella syndrome +3 more	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 1167806	NM_001174147.2(LMX1B):c.870C>A (p.Ser290=)	LMX1B	Single nucleotide variant (synonymous variant)	Nail-patella syndrome +2 more	GBenign/Likely benign
Select item 1099883	NM_001174147.2(LMX1B):c.549G>A (p.Glu183=)	LMX1B	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1035953	NM_001174147.2(LMX1B):c.958G>A (p.Val320Met)	LMX1B (V331M +1 more)	Single nucleotide variant (missense variant)	Nail-patella syndrome +2 more	GUncertain significance
Select item 1027208	NM_001174147.2(LMX1B):c.130G>A (p.Val44Met)	LMX1B (V44M)	Single nucleotide variant (missense variant)	Nail-patella syndrome +2 more	GUncertain significance
Select item 1023525	NM_001174147.2(LMX1B):c.451C>T (p.Arg151Cys)	LMX1B (R151C)	Single nucleotide variant (missense variant)	Nail-patella syndrome +2 more	GUncertain significance
Select item 1011992	NM_001174147.2(LMX1B):c.463G>A (p.Glu155Lys)	LMX1B (E155K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 988549	NM_001174147.2(LMX1B):c.325C>T (p.Gln109Ter)	LMX1B (Q109*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 976712	NM_001174147.2(LMX1B):c.706G>C (p.Ala236Pro)	LMX1B (A236P)	Single nucleotide variant (missense variant)	Nail-patella-like renal disease +2 more	GPathogenic
Select item 914598	NM_001174147.2(LMX1B):c.535G>A (p.Val179Met)	LMX1B (V179M)	Single nucleotide variant (missense variant)	Nail-patella syndrome +2 more	GConflicting classifications of pathogenicity
Select item 914083	NM_001174147.2(LMX1B):c.140-4A>G	LMX1B	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 913733	NM_001174147.2(LMX1B):c.1200C>T (p.Phe400=)	LMX1B	Single nucleotide variant (synonymous variant)	Nail-patella-like renal disease +3 more	GBenign/Likely benign
Select item 912633	NM_001174147.2(LMX1B):c.933G>T (p.Pro311=)	LMX1B	Single nucleotide variant (synonymous variant)	Nail-patella-like renal disease +3 more	GLikely benign
Select item 812901	NM_001174147.2(LMX1B):c.737G>C (p.Arg246Pro)	LMX1B (R246P)	Single nucleotide variant (missense variant)	Lipoid nephrosis +1 more	GPathogenic/Likely pathogenic
Select item 747613	NM_001174147.2(LMX1B):c.1059C>T (p.Asp353=)	LMX1B	Single nucleotide variant (synonymous variant)	Nail-patella syndrome +2 more	GBenign/Likely benign
Select item 741388	NM_001174147.2(LMX1B):c.723G>T (p.Ser241=)	LMX1B	Single nucleotide variant (synonymous variant)	Nail-patella syndrome +2 more	GLikely benign
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 364887	NM_001174147.2(LMX1B):c.972G>C (p.Gln324His)	LMX1B (Q335H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 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 258626	NM_001174147.2(LMX1B):c.546C>T (p.Asp182=)	LMX1B	Single nucleotide variant (synonymous variant)	Nail-patella syndrome +3 more	GLikely benign
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 258624	NM_001174147.2(LMX1B):c.432C>T (p.Cys144=)	LMX1B	Single nucleotide variant (synonymous variant)	Nail-patella syndrome +4 more	GBenign/Likely benign
Select item 258622	NM_001174147.2(LMX1B):c.326+7G>C	LMX1B	Single nucleotide variant (intron variant)	Nail-patella-like renal disease +3 more	GBenign
Select item 258621	NM_001174147.2(LMX1B):c.139+19C>T	LMX1B	Single nucleotide variant (intron variant)	Nail-patella syndrome +3 more	GBenign/Likely benign

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Items: 38