ClinVar for MedGen (Select 10257) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3067825	NM_001174147.2(LMX1B):c.1100G>A (p.Ser367Asn)	LMX1B (S360N +2 more)	Single nucleotide variant (missense variant)	Nail-patella syndrome	GUncertain significance
Select item 2502373	NM_001174147.2(LMX1B):c.259C>T (p.Gln87Ter)	LMX1B (Q87*)	Single nucleotide variant (nonsense)	Nail-patella syndrome	GPathogenic
Select item 1806136	NM_001174147.2(LMX1B):c.949C>T (p.Gln317Ter)	LMX1B (Q317* +1 more)	Single nucleotide variant (nonsense)	Nail-patella syndrome	GPathogenic
Select item 1805857	NM_001174147.2(LMX1B):c.886+36G>A	LMX1B	Single nucleotide variant (intron variant)	Nail-patella syndrome	GUncertain significance
Select item 1710466	NM_001174147.2(LMX1B):c.722del (p.Ser241fs)	LMX1B (S241fs)	Deletion (frameshift variant)	Nail-patella syndrome	GLikely pathogenic
Select item 1703546	GRCh37/hg19 9q33.3(chr9:129376720-129463802)	LMX1B	Copy number loss	Nail-patella syndrome	GPathogenic
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)	not provided +3 more	GUncertain significance
Select item 1339805	NM_001174147.2(LMX1B):c.422_430del (p.Phe141_Cys143del)	LMX1B	Deletion (inframe_deletion)	Nail-patella syndrome	Gnot provided
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 1038137	NM_001174147.2(LMX1B):c.637G>A (p.Gly213Arg)	LMX1B (G213R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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)	Nail-patella syndrome +3 more	GUncertain significance
Select item 995576	NM_001174147.2(LMX1B):c.353G>A (p.Cys118Tyr)	LMX1B (C118Y)	Single nucleotide variant (missense variant)	Nail-patella syndrome +1 more	GConflicting classifications of pathogenicity
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 983307	GRCh37/hg19 9q33.3-34.11(chr9:128512347-130702572)x1	AK1, ANGPTL2 +27 more	Copy number loss	Developmental and epileptic encephalopathy, 4 +1 more	GPathogenic
Select item 982653	NM_001174147.2(LMX1B):c.253G>A (p.Ala85Thr)	LMX1B (A85T)	Single nucleotide variant (missense variant)	Nail-patella syndrome	GUncertain significance
Select item 976712	NM_001174147.2(LMX1B):c.706G>C (p.Ala236Pro)	LMX1B (A236P)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 976598	NM_001174147.2(LMX1B):c.*3719G>A	LMX1B	Single nucleotide variant (3 prime UTR variant)	Nail-patella syndrome	GUncertain significance
Select item 976580	NM_001174147.2(LMX1B):c.*446G>T	LMX1B	Single nucleotide variant (3 prime UTR variant)	Nail-patella syndrome	GUncertain significance
Select item 976153	NM_001174147.2(LMX1B):c.797G>C (p.Trp266Ser)	LMX1B (W266S)	Single nucleotide variant (missense variant)	Nail-patella syndrome	GLikely pathogenic
Select item 973862	NM_001174147.2(LMX1B):c.115C>T (p.Pro39Ser)	LMX1B (P39S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 914811	NM_001174147.2(LMX1B):c.*4129C>T	LMX1B	Single nucleotide variant (3 prime UTR variant)	Nail-patella syndrome	GUncertain significance
Select item 914769	NM_001174147.2(LMX1B):c.*3713G>A	LMX1B	Single nucleotide variant (3 prime UTR variant)	Nail-patella syndrome	GUncertain significance
Select item 914768	NM_001174147.2(LMX1B):c.*3464G>A	LMX1B	Single nucleotide variant (3 prime UTR variant)	Nail-patella syndrome	GUncertain significance
Select item 914767	NM_001174147.2(LMX1B):c.*3403C>G	LMX1B	Single nucleotide variant (3 prime UTR variant)	Nail-patella syndrome	GUncertain significance
Select item 914714	NM_001174147.2(LMX1B):c.*2344C>T	LMX1B	Single nucleotide variant (3 prime UTR variant)	Nail-patella syndrome	GUncertain significance
Select item 914713	NM_001174147.2(LMX1B):c.*2062C>A	LMX1B	Single nucleotide variant (3 prime UTR variant)	Nail-patella syndrome	GUncertain significance
Select item 914679	NM_001174147.2(LMX1B):c.*1189C>T	LMX1B	Single nucleotide variant (3 prime UTR variant)	Nail-patella syndrome	GUncertain significance
Select item 914678	NM_001174147.2(LMX1B):c.*1164A>T	LMX1B	Single nucleotide variant (3 prime UTR variant)	Nail-patella syndrome	GUncertain significance
Select item 914677	NM_001174147.2(LMX1B):c.*999C>G	LMX1B	Single nucleotide variant (3 prime UTR variant)	Nail-patella syndrome	GUncertain significance
Select item 914676	NM_001174147.2(LMX1B):c.*950G>C	LMX1B	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 914636	NM_001174147.2(LMX1B):c.*253C>T	LMX1B	Single nucleotide variant (3 prime UTR variant)	Nail-patella syndrome	GUncertain significance
Select item 914635	NM_001174147.2(LMX1B):c.*155G>A	LMX1B	Single nucleotide variant (3 prime UTR variant)	Nail-patella syndrome	GBenign
Select item 914634	NM_001174147.2(LMX1B):c.*128G>A	LMX1B	Single nucleotide variant (3 prime UTR variant)	Nail-patella syndrome	GUncertain significance
Select item 914633	NM_001174147.2(LMX1B):c.*105C>G	LMX1B	Single nucleotide variant (3 prime UTR variant)	Nail-patella syndrome	GUncertain significance
Select item 914599	NM_001174147.2(LMX1B):c.720C>T (p.Val240=)	LMX1B	Single nucleotide variant (synonymous variant)	Nail-patella syndrome +1 more	GConflicting classifications of pathogenicity
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 914597	NM_001174147.2(LMX1B):c.520G>A (p.Asp174Asn)	LMX1B (D174N)	Single nucleotide variant (missense variant)	Nail-patella syndrome	GUncertain significance
Select item 914307	NM_001174147.2(LMX1B):c.*4123C>T	LMX1B	Single nucleotide variant (3 prime UTR variant)	Nail-patella syndrome	GUncertain significance
Select item 914306	NM_001174147.2(LMX1B):c.*4050C>A	LMX1B	Single nucleotide variant (3 prime UTR variant)	Nail-patella syndrome	GUncertain significance
Select item 914270	NM_001174147.2(LMX1B):c.*3335A>G	LMX1B	Single nucleotide variant (3 prime UTR variant)	Nail-patella syndrome	GUncertain significance
Select item 914269	NM_001174147.2(LMX1B):c.*3235C>T	LMX1B	Single nucleotide variant (3 prime UTR variant)	Nail-patella syndrome	GUncertain significance
Select item 914268	NM_001174147.2(LMX1B):c.*3196G>A	LMX1B	Single nucleotide variant (3 prime UTR variant)	Nail-patella syndrome	GUncertain significance
Select item 914226	NM_001174147.2(LMX1B):c.*1899G>A	LMX1B	Single nucleotide variant (3 prime UTR variant)	Nail-patella syndrome	GUncertain significance
Select item 914225	NM_001174147.2(LMX1B):c.*1703C>T	LMX1B	Single nucleotide variant (3 prime UTR variant)	Nail-patella syndrome	GBenign
Select item 914174	NM_001174147.2(LMX1B):c.*884G>A	LMX1B	Single nucleotide variant (3 prime UTR variant)	Nail-patella syndrome	GBenign
Select item 914173	NM_001174147.2(LMX1B):c.*764A>C	LMX1B	Single nucleotide variant (3 prime UTR variant)	Nail-patella syndrome	GUncertain significance
Select item 914172	NM_001174147.2(LMX1B):c.*745G>A	LMX1B	Single nucleotide variant (3 prime UTR variant)	Nail-patella syndrome	GUncertain significance
Select item 914171	NM_001174147.2(LMX1B):c.*635A>G	LMX1B	Single nucleotide variant (3 prime UTR variant)	Nail-patella syndrome	GUncertain significance
Select item 914133	NM_001174147.2(LMX1B):c.*90C>T	LMX1B	Single nucleotide variant (3 prime UTR variant)	Nail-patella syndrome	GUncertain significance
Select item 914132	NM_001174147.2(LMX1B):c.*44G>T	LMX1B	Single nucleotide variant (3 prime UTR variant)	Nail-patella syndrome	GUncertain significance
Select item 914131	NM_001174147.2(LMX1B):c.*18G>A	LMX1B	Single nucleotide variant (3 prime UTR variant)	Nail-patella syndrome	GUncertain significance
Select item 914084	NM_001174147.2(LMX1B):c.375C>T (p.Thr125=)	LMX1B	Single nucleotide variant (synonymous variant)	not provided +1 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 914082	NM_001174147.2(LMX1B):c.94G>A (p.Glu32Lys)	LMX1B (E32K)	Single nucleotide variant (missense variant)	Nail-patella syndrome	GUncertain significance
Select item 913779	NM_001174147.2(LMX1B):c.*575G>T	LMX1B	Single nucleotide variant (3 prime UTR variant)	Nail-patella syndrome	GUncertain significance
Select item 913778	NM_001174147.2(LMX1B):c.*553C>T	LMX1B	Single nucleotide variant (3 prime UTR variant)	Nail-patella syndrome	GUncertain significance
Select item 913777	NM_001174147.2(LMX1B):c.*551C>A	LMX1B	Single nucleotide variant (3 prime UTR variant)	Nail-patella syndrome	GUncertain significance
Select item 913735	NM_001174147.2(LMX1B):c.*17C>T	LMX1B	Single nucleotide variant (3 prime UTR variant)	Nail-patella syndrome	GUncertain significance
Select item 913734	NM_001174147.2(LMX1B):c.*13C>T	LMX1B	Single nucleotide variant (3 prime UTR variant)	Nail-patella syndrome	GLikely benign
Select item 913733	NM_001174147.2(LMX1B):c.1200C>T (p.Phe400=)	LMX1B	Single nucleotide variant (synonymous variant)	LMX1B-related condition +3 more	GBenign/Likely benign
Select item 913732	NM_001174147.2(LMX1B):c.1078G>A (p.Asp360Asn)	LMX1B (D353N +2 more)	Single nucleotide variant (missense variant)	Nail-patella syndrome	GLikely benign
Select item 913690	NM_001174147.2(LMX1B):c.-12G>T	LMX1B	Single nucleotide variant (5 prime UTR variant)	Nail-patella syndrome	GUncertain significance
Select item 913171	NM_001174147.2(LMX1B):c.*3865G>A	LMX1B	Single nucleotide variant (3 prime UTR variant)	Nail-patella syndrome	GBenign
Select item 913125	NM_001174147.2(LMX1B):c.*3052T>C	LMX1B	Single nucleotide variant (3 prime UTR variant)	Nail-patella syndrome	GUncertain significance
Select item 913124	NM_001174147.2(LMX1B):c.*2739C>A	LMX1B	Single nucleotide variant (3 prime UTR variant)	Nail-patella syndrome	GLikely benign
Select item 912850	NM_001174147.2(LMX1B):c.*4568C>A	LMX1B	Single nucleotide variant (3 prime UTR variant)	Nail-patella syndrome	GUncertain significance
Select item 912849	NM_001174147.2(LMX1B):c.*4466C>A	LMX1B	Single nucleotide variant (3 prime UTR variant)	Nail-patella syndrome	GUncertain significance
Select item 912848	NM_001174147.2(LMX1B):c.*4338G>C	LMX1B	Single nucleotide variant (3 prime UTR variant)	Nail-patella syndrome	GUncertain significance
Select item 912809	NM_001174147.2(LMX1B):c.*3799G>T	LMX1B	Single nucleotide variant (3 prime UTR variant)	Nail-patella syndrome	GUncertain significance
Select item 912764	NM_001174147.2(LMX1B):c.*2737C>T	LMX1B	Single nucleotide variant (3 prime UTR variant)	Nail-patella syndrome	GUncertain significance
Select item 912763	NM_001174147.2(LMX1B):c.*2620G>A	LMX1B	Single nucleotide variant (3 prime UTR variant)	Nail-patella syndrome	GUncertain significance
Select item 912762	NM_001174147.2(LMX1B):c.*2511C>T	LMX1B	Single nucleotide variant (3 prime UTR variant)	Nail-patella syndrome	GUncertain significance
Select item 912710	NM_001174147.2(LMX1B):c.*1493C>T	LMX1B	Single nucleotide variant (3 prime UTR variant)	Nail-patella syndrome	GUncertain significance
Select item 912709	NM_001174147.2(LMX1B):c.*1287A>T	LMX1B	Single nucleotide variant (3 prime UTR variant)	Nail-patella syndrome	GBenign
Select item 912674	NM_001174147.2(LMX1B):c.*317G>A	LMX1B	Single nucleotide variant (3 prime UTR variant)	Nail-patella syndrome	GUncertain significance
Select item 912673	NM_001174147.2(LMX1B):c.*286C>T	LMX1B	Single nucleotide variant (3 prime UTR variant)	Nail-patella syndrome	GUncertain significance
Select item 912633	NM_001174147.2(LMX1B):c.933G>T (p.Pro311=)	LMX1B	Single nucleotide variant (synonymous variant)	LMX1B-related condition +3 more	GLikely benign
Select item 912632	NM_001174147.2(LMX1B):c.820-13G>A	LMX1B	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 830002	NM_001174147.2(LMX1B):c.746G>C (p.Arg249Pro)	LMX1B (R249P)	Single nucleotide variant (missense variant)	Nail-patella syndrome	GPathogenic
Select item 827651	NM_001174147.2(LMX1B):c.819+1G>A	LMX1B	Single nucleotide variant (splice donor variant)	Nail-patella syndrome	GPathogenic
Select item 827650	NM_001174147.2(LMX1B):c.806_811del (p.Asn269_Gln270del)	LMX1B	Deletion (inframe_deletion)	Nail-patella syndrome	GPathogenic
Select item 827649	NM_001174147.2(LMX1B):c.793G>T (p.Val265Phe)	LMX1B (V265F)	Single nucleotide variant (missense variant)	Nail-patella syndrome	GPathogenic
Select item 827648	NM_001174147.2(LMX1B):c.793G>C (p.Val265Leu)	LMX1B (V265L)	Single nucleotide variant (missense variant)	Nail-patella syndrome	GPathogenic
Select item 827647	NM_001174147.2(LMX1B):c.783dup (p.Val262fs)	LMX1B (V262fs)	Duplication (frameshift variant)	Nail-patella syndrome	GPathogenic
Select item 827646	NM_001174147.2(LMX1B):c.169G>T (p.Glu57Ter)	LMX1B (E57*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 810414	NM_001174147.2(LMX1B):c.784G>A (p.Val262Met)	LMX1B (V262M)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic

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