ClinVar for MedGen (Select 10257) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3730841	NM_001174147.2(LMX1B):c.640A>T (p.Lys214Ter)	LMX1B (K214*)	Single nucleotide variant (nonsense)	Nail-patella syndrome	GPathogenic
Select item 3602743	NM_001174147.2(LMX1B):c.715G>A (p.Glu239Lys)	LMX1B (E239K)	Single nucleotide variant (missense variant)	Nail-patella syndrome	GUncertain significance
Select item 3602075	NM_001174147.2(LMX1B):c.58_100dup (p.Ala34fs)	LMX1B (A34fs)	Duplication (frameshift variant)	Nail-patella syndrome	GPathogenic
Select item 3596451	NM_001174147.2(LMX1B):c.1172G>A (p.Arg391Gln)	LMX1B (R384Q +2 more)	Single nucleotide variant (missense variant)	Nail-patella-like renal disease +1 more	GUncertain significance
Select item 3596450	NM_001174147.2(LMX1B):c.1052-17C>G	LMX1B	Single nucleotide variant (intron variant)	Nail-patella-like renal disease +1 more	GUncertain significance
Select item 3596449	NM_001174147.2(LMX1B):c.929C>T (p.Thr310Met)	LMX1B (T310M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3596448	NM_001174147.2(LMX1B):c.887-7C>A	LMX1B	Single nucleotide variant (intron variant)	Nail-patella-like renal disease +1 more	GUncertain significance
Select item 3596447	NM_001174147.2(LMX1B):c.761C>T (p.Ala254Val)	LMX1B (A254V)	Single nucleotide variant (missense variant)	Nail-patella-like renal disease +1 more	GUncertain significance
Select item 3596446	NM_001174147.2(LMX1B):c.746G>A (p.Arg249Gln)	LMX1B (R249Q)	Single nucleotide variant (missense variant)	Nail-patella syndrome +2 more	GPathogenic
Select item 3596444	NM_001174147.2(LMX1B):c.611G>A (p.Ser204Asn)	LMX1B (S204N)	Single nucleotide variant (missense variant)	Nail-patella-like renal disease +1 more	GUncertain significance
Select item 3596443	NM_001174147.2(LMX1B):c.596C>A (p.Ala199Asp)	LMX1B (A199D)	Single nucleotide variant (missense variant)	Nail-patella-like renal disease +1 more	GUncertain significance
Select item 3596442	NM_001174147.2(LMX1B):c.568G>A (p.Glu190Lys)	LMX1B (E190K)	Single nucleotide variant (missense variant)	Nail-patella-like renal disease +1 more	GUncertain significance
Select item 3596441	NM_001174147.2(LMX1B):c.546C>A (p.Asp182Glu)	LMX1B (D182E)	Single nucleotide variant (missense variant)	Nail-patella-like renal disease +1 more	GUncertain significance
Select item 3596440	NM_001174147.2(LMX1B):c.494G>T (p.Cys165Phe)	LMX1B (C165F)	Single nucleotide variant (missense variant)	Nail-patella-like renal disease +1 more	GUncertain significance
Select item 3596439	NM_001174147.2(LMX1B):c.480G>C (p.Glu160Asp)	LMX1B (E160D)	Single nucleotide variant (missense variant)	Nail-patella-like renal disease +1 more	GUncertain significance
Select item 3596437	NM_001174147.2(LMX1B):c.395T>C (p.Leu132Pro)	LMX1B (L132P)	Single nucleotide variant (missense variant)	Nail-patella-like renal disease +1 more	GUncertain significance
Select item 3596436	NM_001174147.2(LMX1B):c.116C>T (p.Pro39Leu)	LMX1B (P39L)	Single nucleotide variant (missense variant)	Nail-patella-like renal disease +1 more	GUncertain significance
Select item 3596435	NM_001174147.2(LMX1B):c.89T>G (p.Met30Arg)	LMX1B (M30R)	Single nucleotide variant (missense variant)	Nail-patella-like renal disease +1 more	GUncertain significance
Select item 3596434	NM_001174147.2(LMX1B):c.87G>T (p.Lys29Asn)	LMX1B (K29N)	Single nucleotide variant (missense variant)	Nail-patella-like renal disease +1 more	GUncertain significance
Select item 3596433	NM_001174147.2(LMX1B):c.80G>A (p.Gly27Asp)	LMX1B (G27D)	Single nucleotide variant (missense variant)	Nail-patella-like renal disease +1 more	GUncertain significance
Select item 3391130	NM_001174147.2(LMX1B):c.794T>G (p.Val265Gly)	LMX1B (V265G)	Single nucleotide variant (missense variant)	Nail-patella syndrome	GPathogenic
Select item 3382498	NM_001174147.2(LMX1B):c.1051+2T>C	LMX1B	Single nucleotide variant (intron variant +1 more)	Nail-patella syndrome +1 more	GUncertain significance
Select item 3358861	NM_001174147.2(LMX1B):c.755T>A (p.Leu252Gln)	LMX1B (L252Q)	Single nucleotide variant (missense variant)	Nail-patella syndrome	GLikely pathogenic
Select item 3236102	NM_001174147.2(LMX1B):c.224C>T (p.Ser75Phe)	LMX1B (S75F)	Single nucleotide variant (missense variant)	Nail-patella syndrome +1 more	GUncertain significance
Select item 3067825	NM_001174147.2(LMX1B):c.1100G>A (p.Ser367Asn)	LMX1B (S360N +2 more)	Single nucleotide variant (missense variant)	Nail-patella syndrome +1 more	GUncertain significance
Select item 2806555	NM_001174147.2(LMX1B):c.553G>A (p.Asp185Asn)	LMX1B (D185N)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2776723	NM_001174147.2(LMX1B):c.1108G>A (p.Asp370Asn)	LMX1B (D363N +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	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 2433493	NM_001174147.2(LMX1B):c.783C>T (p.Arg261=)	LMX1B	Single nucleotide variant (synonymous variant)	Nail-patella syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2082525	NM_001174147.2(LMX1B):c.311A>G (p.Lys104Arg)	LMX1B (K104R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1920345	NM_001174147.2(LMX1B):c.217G>C (p.Glu73Gln)	LMX1B (E73Q)	Single nucleotide variant (missense variant)	LMX1B-related disorder +3 more	GUncertain significance
Select item 1919449	NM_001174147.2(LMX1B):c.1132G>A (p.Val378Met)	LMX1B (V371M +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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)	not provided +2 more	GLikely benign
Select item 1635927	NM_001174147.2(LMX1B):c.327-17G>A	LMX1B	Single nucleotide variant (intron variant)	not provided +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)	not provided +2 more	GBenign/Likely benign
Select item 1564232	NM_001174147.2(LMX1B):c.327-6C>T	LMX1B	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 1535906	NM_001174147.2(LMX1B):c.648G>A (p.Pro216=)	LMX1B	Single nucleotide variant (synonymous variant)	Nail-patella syndrome +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 1520811	NM_001174147.2(LMX1B):c.1153G>A (p.Val385Met)	LMX1B (V389M +2 more)	Single nucleotide variant (missense variant)	Nail-patella syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1495112	NM_001174147.2(LMX1B):c.559G>A (p.Val187Met)	LMX1B (V187M)	Single nucleotide variant (missense variant)	Nail-patella-like renal disease +2 more	GUncertain significance
Select item 1452363	NM_001174147.2(LMX1B):c.207dup (p.Arg70fs)	LMX1B (R70fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 1416097	NM_001174147.2(LMX1B):c.1171C>T (p.Arg391Trp)	LMX1B (R395W +2 more)	Single nucleotide variant (missense variant)	Nail-patella syndrome +2 more	GUncertain significance
Select item 1401618	NM_001174147.2(LMX1B):c.745C>A (p.Arg249=)	LMX1B	Single nucleotide variant (synonymous variant)	Nail-patella syndrome +2 more	GUncertain significance
Select item 1394734	NM_001174147.2(LMX1B):c.915G>A (p.Met305Ile)	LMX1B (M305I +1 more)	Single nucleotide variant (missense variant)	Nail-patella-like renal disease +2 more	GConflicting classifications of pathogenicity
Select item 1375664	NM_001174147.2(LMX1B):c.1084G>A (p.Asp362Asn)	LMX1B (D355N +2 more)	Single nucleotide variant (missense variant)	Nail-patella syndrome +2 more	GUncertain significance
Select item 1361298	NM_001174147.2(LMX1B):c.1002G>T (p.Gln334His)	LMX1B (Q345H +1 more)	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)	not provided +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)	Nail-patella syndrome +2 more	GLikely benign
Select item 1060826	NM_001174147.2(LMX1B):c.1052G>A (p.Gly351Glu)	LMX1B (G344E +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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-like renal disease +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)	not provided +2 more	GConflicting classifications of pathogenicity
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 1006393	NM_001174147.2(LMX1B):c.874C>T (p.Arg292Trp)	LMX1B (R292W)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 995576	NM_001174147.2(LMX1B):c.353G>A (p.Cys118Tyr)	LMX1B (C118Y)	Single nucleotide variant (missense variant)	Nail-patella syndrome +2 more	GConflicting classifications of pathogenicity
Select item 988549	NM_001174147.2(LMX1B):c.325C>T (p.Gln109Ter)	LMX1B (Q109*)	Single nucleotide variant (nonsense)	Nail-patella syndrome +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)	Nail-patella syndrome +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)	Nail-patella syndrome +2 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 +3 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

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