ClinVar for MedGen (Select 10257) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25023731.	NM_001174147.2(LMX1B):c.259C>T (p.Gln87Ter) GRCh37: Chr9:129377781 GRCh38: Chr9:126615502	LMX1B	Q87*	Nail-patella syndrome	Pathogenic (May 19, 2023)	criteria provided, single submitter
Select item 18061362.	NM_001174147.2(LMX1B):c.949C>T (p.Gln317Ter) GRCh37: Chr9:129458180 GRCh38: Chr9:126695901	LMX1B	Q317, Q328	Nail-patella syndrome	Pathogenic (Oct 19, 2020)	criteria provided, single submitter
Select item 18058573.	NM_001174147.2(LMX1B):c.886+36G>A GRCh37: Chr9:129456127 GRCh38: Chr9:126693848	LMX1B		Nail-patella syndrome	Uncertain significance (May 6, 2021)	criteria provided, single submitter
Select item 17104664.	NM_001174147.2(LMX1B):c.722del (p.Ser241fs) GRCh37: Chr9:129455583 GRCh38: Chr9:126693304	LMX1B	S241fs	Nail-patella syndrome	Likely pathogenic (Jul 28, 2022)	criteria provided, single submitter
Select item 17035465.	GRCh37/hg19 9q33.3(chr9:129376720-129463802) GRCh37: Chr9:129376720-129463802	LMX1B		Nail-patella syndrome	Pathogenic	no assertion criteria provided
Select item 16652866.	NM_001174147.2(LMX1B):c.1052-19C>T GRCh37: Chr9:129458554 GRCh38: Chr9:126696275	LMX1B		Nail-patella syndrome, Nail-patella-like renal disease, not provided	Likely benign (Aug 2, 2021)	criteria provided, multiple submitters, no conflicts
Select item 16359277.	NM_001174147.2(LMX1B):c.327-17G>A GRCh37: Chr9:129453098 GRCh38: Chr9:126690819	LMX1B		not provided, Nail-patella syndrome, Nail-patella-like renal disease	Likely benign (Nov 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 16070488.	NM_001174147.2(LMX1B):c.333C>T (p.Phe111=) GRCh37: Chr9:129453121 GRCh38: Chr9:126690842	LMX1B		Nail-patella syndrome, Nail-patella-like renal disease, not provided	Likely benign (Aug 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 16011809.	NM_001174147.2(LMX1B):c.570G>A (p.Glu190=) GRCh37: Chr9:129455431 GRCh38: Chr9:126693152	LMX1B		Nail-patella syndrome, Nail-patella-like renal disease, not provided	Benign/Likely benign (Jan 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 156423210.	NM_001174147.2(LMX1B):c.327-6C>T GRCh37: Chr9:129453109 GRCh38: Chr9:126690830	LMX1B		Nail-patella syndrome, Nail-patella-like renal disease, not provided	Likely benign (Mar 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 153590611.	NM_001174147.2(LMX1B):c.648G>A (p.Pro216=) GRCh37: Chr9:129455509 GRCh38: Chr9:126693230	LMX1B		Nail-patella-like renal disease, Nail-patella syndrome, not provided	Benign/Likely benign (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 152545112.	NM_001174147.2(LMX1B):c.349G>A (p.Gly117Ser) GRCh37: Chr9:129453137 GRCh38: Chr9:126690858	LMX1B	G117S	not provided, Nail-patella-like renal disease, Nail-patella syndrome	Uncertain significance (Feb 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 152245613.	NM_001174147.2(LMX1B):c.237G>T (p.Glu79Asp) GRCh37: Chr9:129377759 GRCh38: Chr9:126615480	LMX1B	E79D	Nail-patella-like renal disease, Nail-patella syndrome, not provided	Uncertain significance (Mar 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 149511214.	NM_001174147.2(LMX1B):c.559G>A (p.Val187Met) GRCh37: Chr9:129453347 GRCh38: Chr9:126691068	LMX1B	V187M	Nail-patella syndrome, Nail-patella-like renal disease, not provided	Uncertain significance (Jul 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 135781915.	NM_001174147.2(LMX1B):c.1201G>A (p.Ala401Thr) GRCh37: Chr9:129458722 GRCh38: Chr9:126696443	LMX1B	A394T, A401T, A405T	not provided, Nail-patella syndrome, Nail-patella-like renal disease, Inborn genetic diseases	Uncertain significance (Sep 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 133980516.	NM_001174147.2(LMX1B):c.422_430del (p.Phe141_Cys143del) GRCh37: Chr9:129453204-129453212 GRCh38: Chr9:126690925-126690933	LMX1B		Nail-patella syndrome	not provided	no assertion provided
Select item 131684317.	NM_001174147.2(LMX1B):c.508G>A (p.Glu170Lys) GRCh37: Chr9:129453296 GRCh38: Chr9:126691017	LMX1B	E170K	Nail-patella syndrome, Nail-patella-like renal disease, not provided	Uncertain significance (Aug 22, 2021)	criteria provided, multiple submitters, no conflicts
Select item 116780618.	NM_001174147.2(LMX1B):c.870C>A (p.Ser290=) GRCh37: Chr9:129456075 GRCh38: Chr9:126693796	LMX1B		not provided, Nail-patella-like renal disease, Nail-patella syndrome	Benign/Likely benign (Sep 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 109988319.	NM_001174147.2(LMX1B):c.549G>A (p.Glu183=) GRCh37: Chr9:129453337 GRCh38: Chr9:126691058	LMX1B		Nail-patella syndrome, Nail-patella-like renal disease, not provided	Likely benign (Nov 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 103813720.	NM_001174147.2(LMX1B):c.637G>A (p.Gly213Arg) GRCh37: Chr9:129455498 GRCh38: Chr9:126693219	LMX1B	G213R	Nail-patella syndrome, not provided	Uncertain significance (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 102720821.	NM_001174147.2(LMX1B):c.130G>A (p.Val44Met) GRCh37: Chr9:129376858 GRCh38: Chr9:126614579	LMX1B	V44M	not provided, Nail-patella syndrome, Nail-patella-like renal disease	Uncertain significance (Oct 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 102352522.	NM_001174147.2(LMX1B):c.451C>T (p.Arg151Cys) GRCh37: Chr9:129453239 GRCh38: Chr9:126690960	LMX1B	R151C	Nail-patella syndrome, Nail-patella-like renal disease, not provided	Uncertain significance (Jun 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 101199223.	NM_001174147.2(LMX1B):c.463G>A (p.Glu155Lys) GRCh37: Chr9:129453251 GRCh38: Chr9:126690972	LMX1B	E155K	not provided, Inborn genetic diseases, Nail-patella syndrome, Nail-patella-like renal disease	Uncertain significance (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99557624.	NM_001174147.2(LMX1B):c.353G>A (p.Cys118Tyr) GRCh37: Chr9:129453141 GRCh38: Chr9:126690862	LMX1B	C118Y	Nail-patella syndrome	Likely pathogenic (Nov 18, 2020)	criteria provided, single submitter
Select item 98854925.	NM_001174147.2(LMX1B):c.325C>T (p.Gln109Ter) GRCh37: Chr9:129377847 GRCh38: Chr9:126615568	LMX1B	Q109*	not provided, Nail-patella syndrome, Nail-patella-like renal disease	Pathogenic (Mar 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 98330726.	GRCh37/hg19 9q33.3-34.11(chr9:128512347-130702572)x1 GRCh37: Chr9:128512347-130702572	AK1, ANGPTL2, CDK9, CFAP157, DPM2, ENG, FPGS, GARNL3, LMX1B, LRSAM1, MIR2861, MVB12B, NIBAN2, NRON, PBX3, PIP5KL1, PTRH1, RALGPS1, RPL12, SH2D3C, SLC2A8, ST6GALNAC4, ST6GALNAC6, STXBP1, TOR2A, TTC16, ZBTB34, ZBTB43, ZNF79		Developmental and epileptic encephalopathy, 4, Nail-patella syndrome	Pathogenic (Nov 22, 2018)	no assertion criteria provided
Select item 98265327.	NM_001174147.2(LMX1B):c.253G>A (p.Ala85Thr) GRCh37: Chr9:129377775 GRCh38: Chr9:126615496	LMX1B	A85T	Nail-patella syndrome	Uncertain significance (Jan 1, 2019)	criteria provided, single submitter
Select item 97671228.	NM_001174147.2(LMX1B):c.706G>C (p.Ala236Pro) GRCh37: Chr9:129455567 GRCh38: Chr9:126693288	LMX1B	A236P	Nail-patella syndrome, Nail-patella-like renal disease, not provided, Nail-patella syndrome	Pathogenic (Jun 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 97659829.	NM_001174147.2(LMX1B):c.*3719G>A GRCh37: Chr9:129462449 GRCh38: Chr9:126700170	LMX1B		Nail-patella syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 97658030.	NM_001174147.2(LMX1B):c.*446G>T GRCh37: Chr9:129459176 GRCh38: Chr9:126696897	LMX1B		Nail-patella syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 97615331.	NM_001174147.2(LMX1B):c.797G>C (p.Trp266Ser) GRCh37: Chr9:129455858 GRCh38: Chr9:126693579	LMX1B	W266S	Nail-patella syndrome	Likely pathogenic (Nov 30, 2018)	criteria provided, single submitter
Select item 97386232.	NM_001174147.2(LMX1B):c.115C>T (p.Pro39Ser) GRCh37: Chr9:129376843 GRCh38: Chr9:126614564	LMX1B	P39S	Nail-patella syndrome	Uncertain significance (May 8, 2020)	criteria provided, single submitter
Select item 91481133.	NM_001174147.2(LMX1B):c.*4129C>T GRCh37: Chr9:129462859 GRCh38: Chr9:126700580	LMX1B		Nail-patella syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91476934.	NM_001174147.2(LMX1B):c.*3713G>A GRCh37: Chr9:129462443 GRCh38: Chr9:126700164	LMX1B		Nail-patella syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91476835.	NM_001174147.2(LMX1B):c.*3464G>A GRCh37: Chr9:129462194 GRCh38: Chr9:126699915	LMX1B		Nail-patella syndrome	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 91476736.	NM_001174147.2(LMX1B):c.*3403C>G GRCh37: Chr9:129462133 GRCh38: Chr9:126699854	LMX1B		Nail-patella syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91471437.	NM_001174147.2(LMX1B):c.*2344C>T GRCh37: Chr9:129461074 GRCh38: Chr9:126698795	LMX1B		Nail-patella syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91471338.	NM_001174147.2(LMX1B):c.*2062C>A GRCh37: Chr9:129460792 GRCh38: Chr9:126698513	LMX1B		Nail-patella syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91467939.	NM_001174147.2(LMX1B):c.*1189C>T GRCh37: Chr9:129459919 GRCh38: Chr9:126697640	LMX1B		Nail-patella syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91467840.	NM_001174147.2(LMX1B):c.*1164A>T GRCh37: Chr9:129459894 GRCh38: Chr9:126697615	LMX1B		Nail-patella syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91467741.	NM_001174147.2(LMX1B):c.*999C>G GRCh37: Chr9:129459729 GRCh38: Chr9:126697450	LMX1B		Nail-patella syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91467642.	NM_001174147.2(LMX1B):c.*950G>C GRCh37: Chr9:129459680 GRCh38: Chr9:126697401	LMX1B		not provided, Nail-patella syndrome	Conflicting interpretations of pathogenicity (Jul 1, 2023)	criteria provided, conflicting interpretations
Select item 91463643.	NM_001174147.2(LMX1B):c.*253C>T GRCh37: Chr9:129458983 GRCh38: Chr9:126696704	LMX1B		Nail-patella syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91463544.	NM_001174147.2(LMX1B):c.*155G>A GRCh37: Chr9:129458885 GRCh38: Chr9:126696606	LMX1B		Nail-patella syndrome	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 91463445.	NM_001174147.2(LMX1B):c.*128G>A GRCh37: Chr9:129458858 GRCh38: Chr9:126696579	LMX1B		Nail-patella syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91463346.	NM_001174147.2(LMX1B):c.*105C>G GRCh37: Chr9:129458835 GRCh38: Chr9:126696556	LMX1B		Nail-patella syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91459947.	NM_001174147.2(LMX1B):c.720C>T (p.Val240=) GRCh37: Chr9:129455581 GRCh38: Chr9:126693302	LMX1B		not provided, Nail-patella syndrome	Conflicting interpretations of pathogenicity (Aug 16, 2022)	criteria provided, conflicting interpretations
Select item 91459848.	NM_001174147.2(LMX1B):c.535G>A (p.Val179Met) GRCh37: Chr9:129453323 GRCh38: Chr9:126691044	LMX1B	V179M	Nail-patella syndrome, Nail-patella-like renal disease, Inborn genetic diseases, Nail-patella syndrome	Conflicting interpretations of pathogenicity (Jul 26, 2022)	criteria provided, conflicting interpretations
Select item 91459749.	NM_001174147.2(LMX1B):c.520G>A (p.Asp174Asn) GRCh37: Chr9:129453308 GRCh38: Chr9:126691029	LMX1B	D174N	Nail-patella syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91430750.	NM_001174147.2(LMX1B):c.*4123C>T GRCh37: Chr9:129462853 GRCh38: Chr9:126700574	LMX1B		Nail-patella syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91430651.	NM_001174147.2(LMX1B):c.*4050C>A GRCh37: Chr9:129462780 GRCh38: Chr9:126700501	LMX1B		Nail-patella syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91427052.	NM_001174147.2(LMX1B):c.*3335A>G GRCh37: Chr9:129462065 GRCh38: Chr9:126699786	LMX1B		Nail-patella syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91426953.	NM_001174147.2(LMX1B):c.*3235C>T GRCh37: Chr9:129461965 GRCh38: Chr9:126699686	LMX1B		Nail-patella syndrome	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 91426854.	NM_001174147.2(LMX1B):c.*3196G>A GRCh37: Chr9:129461926 GRCh38: Chr9:126699647	LMX1B		Nail-patella syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91422655.	NM_001174147.2(LMX1B):c.*1899G>A GRCh37: Chr9:129460629 GRCh38: Chr9:126698350	LMX1B		Nail-patella syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91422556.	NM_001174147.2(LMX1B):c.*1703C>T GRCh37: Chr9:129460433 GRCh38: Chr9:126698154	LMX1B		Nail-patella syndrome	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 91417457.	NM_001174147.2(LMX1B):c.*884G>A GRCh37: Chr9:129459614 GRCh38: Chr9:126697335	LMX1B		Nail-patella syndrome	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 91417358.	NM_001174147.2(LMX1B):c.*764A>C GRCh37: Chr9:129459494 GRCh38: Chr9:126697215	LMX1B		Nail-patella syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91417259.	NM_001174147.2(LMX1B):c.*745G>A GRCh37: Chr9:129459475 GRCh38: Chr9:126697196	LMX1B		Nail-patella syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91417160.	NM_001174147.2(LMX1B):c.*635A>G GRCh37: Chr9:129459365 GRCh38: Chr9:126697086	LMX1B		Nail-patella syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91413361.	NM_001174147.2(LMX1B):c.*90C>T GRCh37: Chr9:129458820 GRCh38: Chr9:126696541	LMX1B		Nail-patella syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91413262.	NM_001174147.2(LMX1B):c.*44G>T GRCh37: Chr9:129458774 GRCh38: Chr9:126696495	LMX1B		Nail-patella syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91413163.	NM_001174147.2(LMX1B):c.*18G>A GRCh37: Chr9:129458748 GRCh38: Chr9:126696469	LMX1B		Nail-patella syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91408464.	NM_001174147.2(LMX1B):c.375C>T (p.Thr125=) GRCh37: Chr9:129453163 GRCh38: Chr9:126690884	LMX1B		not provided, Nail-patella syndrome	Conflicting interpretations of pathogenicity (Jul 22, 2022)	criteria provided, conflicting interpretations
Select item 91408365.	NM_001174147.2(LMX1B):c.140-4A>G GRCh37: Chr9:129377658 GRCh38: Chr9:126615379	LMX1B		not provided, Nail-patella syndrome, Nail-patella-like renal disease, Nail-patella syndrome	Benign/Likely benign (Sep 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91408266.	NM_001174147.2(LMX1B):c.94G>A (p.Glu32Lys) GRCh37: Chr9:129376822 GRCh38: Chr9:126614543	LMX1B	E32K	Nail-patella syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91377967.	NM_001174147.2(LMX1B):c.*575G>T GRCh37: Chr9:129459305 GRCh38: Chr9:126697026	LMX1B		Nail-patella syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91377868.	NM_001174147.2(LMX1B):c.*553C>T GRCh37: Chr9:129459283 GRCh38: Chr9:126697004	LMX1B		Nail-patella syndrome	Uncertain significance (Mar 30, 2018)	criteria provided, single submitter
Select item 91377769.	NM_001174147.2(LMX1B):c.*551C>A GRCh37: Chr9:129459281 GRCh38: Chr9:126697002	LMX1B		Nail-patella syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91373570.	NM_001174147.2(LMX1B):c.*17C>T GRCh37: Chr9:129458747 GRCh38: Chr9:126696468	LMX1B		Nail-patella syndrome	Uncertain significance (Feb 2, 2018)	criteria provided, single submitter
Select item 91373471.	NM_001174147.2(LMX1B):c.*13C>T GRCh37: Chr9:129458743 GRCh38: Chr9:126696464	LMX1B		Nail-patella syndrome	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 91373372.	NM_001174147.2(LMX1B):c.1200C>T (p.Phe400=) GRCh37: Chr9:129458721 GRCh38: Chr9:126696442	LMX1B		not provided, Nail-patella syndrome, Nail-patella-like renal disease, Nail-patella syndrome	Benign/Likely benign (Oct 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91373273.	NM_001174147.2(LMX1B):c.1078G>A (p.Asp360Asn) GRCh37: Chr9:129458599 GRCh38: Chr9:126696320	LMX1B	D353N, D364N, D360N	Nail-patella syndrome	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 91369074.	NM_001174147.2(LMX1B):c.-12G>T GRCh37: Chr9:129376717 GRCh38: Chr9:126614438	LMX1B		Nail-patella syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91317175.	NM_001174147.2(LMX1B):c.*3865G>A GRCh37: Chr9:129462595 GRCh38: Chr9:126700316	LMX1B		Nail-patella syndrome	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 91312576.	NM_001174147.2(LMX1B):c.*3052T>C GRCh37: Chr9:129461782 GRCh38: Chr9:126699503	LMX1B		Nail-patella syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91312477.	NM_001174147.2(LMX1B):c.*2739C>A GRCh37: Chr9:129461469 GRCh38: Chr9:126699190	LMX1B		Nail-patella syndrome	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 91285078.	NM_001174147.2(LMX1B):c.*4568C>A GRCh37: Chr9:129463298 GRCh38: Chr9:126701019	LMX1B		Nail-patella syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91284979.	NM_001174147.2(LMX1B):c.*4466C>A GRCh37: Chr9:129463196 GRCh38: Chr9:126700917	LMX1B		Nail-patella syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91284880.	NM_001174147.2(LMX1B):c.*4338G>C GRCh37: Chr9:129463068 GRCh38: Chr9:126700789	LMX1B		Nail-patella syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91280981.	NM_001174147.2(LMX1B):c.*3799G>T GRCh37: Chr9:129462529 GRCh38: Chr9:126700250	LMX1B		Nail-patella syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91276482.	NM_001174147.2(LMX1B):c.*2737C>T GRCh37: Chr9:129461467 GRCh38: Chr9:126699188	LMX1B		Nail-patella syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91276383.	NM_001174147.2(LMX1B):c.*2620G>A GRCh37: Chr9:129461350 GRCh38: Chr9:126699071	LMX1B		Nail-patella syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91276284.	NM_001174147.2(LMX1B):c.*2511C>T GRCh37: Chr9:129461241 GRCh38: Chr9:126698962	LMX1B		Nail-patella syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91271085.	NM_001174147.2(LMX1B):c.*1493C>T GRCh37: Chr9:129460223 GRCh38: Chr9:126697944	LMX1B		Nail-patella syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91270986.	NM_001174147.2(LMX1B):c.*1287A>T GRCh37: Chr9:129460017 GRCh38: Chr9:126697738	LMX1B		Nail-patella syndrome	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 91267487.	NM_001174147.2(LMX1B):c.*317G>A GRCh37: Chr9:129459047 GRCh38: Chr9:126696768	LMX1B		Nail-patella syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91267388.	NM_001174147.2(LMX1B):c.*286C>T GRCh37: Chr9:129459016 GRCh38: Chr9:126696737	LMX1B		Nail-patella syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91263389.	NM_001174147.2(LMX1B):c.933G>T (p.Pro311=) GRCh37: Chr9:129458164 GRCh38: Chr9:126695885	LMX1B		not provided, Nail-patella syndrome, Nail-patella-like renal disease, Nail-patella syndrome	Likely benign (Apr 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91263290.	NM_001174147.2(LMX1B):c.820-13G>A GRCh37: Chr9:129456012 GRCh38: Chr9:126693733	LMX1B		not provided, Nail-patella syndrome	Conflicting interpretations of pathogenicity (Apr 8, 2021)	criteria provided, conflicting interpretations
Select item 83000291.	NM_001174147.2(LMX1B):c.746G>C (p.Arg249Pro) GRCh37: Chr9:129455807 GRCh38: Chr9:126693528	LMX1B	R249P	Nail-patella syndrome	Pathogenic (Aug 7, 2019)	no assertion criteria provided
Select item 82765192.	NM_001174147.2(LMX1B):c.819+1G>A GRCh37: Chr9:129455881 GRCh38: Chr9:126693602	LMX1B		Nail-patella syndrome	Pathogenic (Mar 16, 2020)	criteria provided, single submitter
Select item 82765093.	NM_001174147.2(LMX1B):c.806_811del (p.Asn269_Gln270del) GRCh37: Chr9:129455866-129455871 GRCh38: Chr9:126693587-126693592	LMX1B		Nail-patella syndrome	Pathogenic (Mar 16, 2020)	criteria provided, single submitter
Select item 82764994.	NM_001174147.2(LMX1B):c.793G>T (p.Val265Phe) GRCh37: Chr9:129455854 GRCh38: Chr9:126693575	LMX1B	V265F	Nail-patella syndrome	Pathogenic (Mar 16, 2020)	criteria provided, single submitter
Select item 82764895.	NM_001174147.2(LMX1B):c.793G>C (p.Val265Leu) GRCh37: Chr9:129455854 GRCh38: Chr9:126693575	LMX1B	V265L	Nail-patella syndrome	Pathogenic (Mar 16, 2020)	criteria provided, single submitter
Select item 82764796.	NM_001174147.2(LMX1B):c.783dup (p.Val262fs) GRCh37: Chr9:129455843-129455844 GRCh38: Chr9:126693564-126693565	LMX1B	V262fs	Nail-patella syndrome	Pathogenic (Mar 16, 2020)	no assertion criteria provided
Select item 82764697.	NM_001174147.2(LMX1B):c.169G>T (p.Glu57Ter) GRCh37: Chr9:129377691 GRCh38: Chr9:126615412	LMX1B	E57*	Nail-patella syndrome	Pathogenic (Mar 16, 2020)	criteria provided, single submitter
Select item 81041498.	NM_001174147.2(LMX1B):c.784G>A (p.Val262Met) GRCh37: Chr9:129455845 GRCh38: Chr9:126693566	LMX1B	V262M	Nail-patella syndrome, not provided	Pathogenic/Likely pathogenic (Oct 17, 2019)	criteria provided, multiple submitters, no conflicts
Select item 80762599.	NM_001174147.2(LMX1B):c.932del (p.Pro311fs) GRCh37: Chr9:129458162 GRCh38: Chr9:126695883	LMX1B	P311fs, P322fs	Nail-patella syndrome	Pathogenic (Jan 24, 2019)	criteria provided, single submitter
Select item 807624100.	NM_001174147.2(LMX1B):c.917_926del (p.Met306fs) GRCh37: Chr9:129458147-129458156 GRCh38: Chr9:126695868-126695877	LMX1B	M317fs, M306fs	Nail-patella syndrome	Pathogenic (Jun 26, 2018)	criteria provided, single submitter

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