"GeneDx"[submitter] AND "LMBR1"[gene] - ClinVar

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Search results

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	ABCB8, ABCF2 +908 more	Copy number gain	See cases	GPathogenic
Select item 60300	GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1	ABCB8, ABCF2 +737 more	Copy number loss	See cases	GPathogenic
Select item 60312	GRCh38/hg38 7q35-36.3(chr7:145699944-159296617)x1	LOC129999655, LOC129999656 +533 more	Copy number loss	See cases	GPathogenic
Select item 60314	GRCh38/hg38 7q36.1-36.3(chr7:152332476-159296617)x1	ACTR3B, BLACE +226 more	Copy number loss	See cases	GPathogenic
Select item 60315	GRCh38/hg38 7q36.2-36.3(chr7:152918472-159307523)x1	BLACE, CNPY1 +204 more	Copy number loss	See cases	GPathogenic
Select item 60316	GRCh38/hg38 7q36.2-36.3(chr7:152920128-159332714)x1	BLACE, CNPY1 +205 more	Copy number loss	See cases	GPathogenic
Select item 359415	NM_022458.4(LMBR1):c.*136dup	LMBR1	Duplication (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 359417	NM_022458.4(LMBR1):c.*91C>T	LMBR1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 359418	NM_022458.4(LMBR1):c.*89A>T	LMBR1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 359419	NM_022458.4(LMBR1):c.*36C>T	LMBR1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 1265077	NM_022458.4(LMBR1):c.1388-207T>C	LMBR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222304	NM_022458.4(LMBR1):c.1387+91C>T	LMBR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273233	NM_022458.4(LMBR1):c.1226-251G>A	LMBR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191850	NM_022458.4(LMBR1):c.1226-261G>A	LMBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1279889	NM_022458.4(LMBR1):c.1226-298T>A	LMBR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256734	NM_022458.4(LMBR1):c.1225+253A>G	LMBR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228319	NM_022458.4(LMBR1):c.1159-79C>A	LMBR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267411	NM_022458.4(LMBR1):c.1159-84A>G	LMBR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280315	NM_022458.4(LMBR1):c.1159-130_1159-129insC	LMBR1	Insertion (intron variant)	not provided	GBenign
Select item 1281255	NM_022458.4(LMBR1):c.1158+122A>G	LMBR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 359423	NM_022458.4(LMBR1):c.1095C>T (p.Gly365=)	LMBR1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 359424	NM_022458.4(LMBR1):c.1092C>T (p.Val364=)	LMBR1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1231566	NM_022458.4(LMBR1):c.1068-40T>C	LMBR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245020	NM_022458.4(LMBR1):c.994-278A>G	LMBR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1199633	NM_022458.4(LMBR1):c.916-176A>C	LMBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2443568	NM_022458.4(LMBR1):c.844C>T (p.Arg282Ter)	LMBR1 (R130* +5 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1178524	NM_022458.4(LMBR1):c.839-79T>A	LMBR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290787	NM_022458.4(LMBR1):c.838+226C>A	LMBR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181839	NM_022458.4(LMBR1):c.758-154A>G	LMBR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1312157	NM_022458.4(LMBR1):c.748C>T (p.Arg250Ter)	LMBR1 (R127* +4 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1293771	NM_022458.4(LMBR1):c.685-36C>T	LMBR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1175592	NM_022458.4(LMBR1):c.685-187G>A	LMBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1260293	NM_022458.4(LMBR1):c.685-196T>A	LMBR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1188302	NM_022458.4(LMBR1):c.684+203G>A	LMBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1232289	NM_022458.4(LMBR1):c.684+142_684+143dup	LMBR1	Duplication (intron variant)	not provided	GBenign
Select item 1227417	NM_022458.4(LMBR1):c.684+142dup	LMBR1	Duplication (intron variant)	not provided	GBenign
Select item 1222245	NM_022458.4(LMBR1):c.684+142_684+154dup	LMBR1	Duplication (intron variant)	not provided	GBenign
Select item 1213138	NM_022458.4(LMBR1):c.684+142_684+146dup	LMBR1	Duplication (intron variant)	not provided	GLikely benign
Select item 1193943	NM_022458.4(LMBR1):c.684+142_684+155dup	LMBR1	Duplication (intron variant)	not provided	GLikely benign
Select item 1175417	NM_022458.4(LMBR1):c.684+142_684+156dup	LMBR1	Duplication (intron variant)	not provided	GLikely benign
Select item 359427	NM_022458.4(LMBR1):c.682A>G (p.Thr228Ala)	LMBR1 (T228A +4 more)	Single nucleotide variant (missense variant +1 more)	Polydactyly of a triphalangeal thumb +1 more	GBenign
Select item 1234357	NM_022458.4(LMBR1):c.619+272_619+275del	LMBR1	Microsatellite (intron variant)	not provided	GBenign
Select item 1235185	NM_022458.4(LMBR1):c.619+210G>A	LMBR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228487	NM_022458.4(LMBR1):c.619+208T>C	LMBR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 750664	NM_022458.4(LMBR1):c.551-6T>A	LMBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1221673	NM_022458.4(LMBR1):c.550+228T>G	LMBR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181684	NM_022458.4(LMBR1):c.550+224del	LMBR1	Deletion (intron variant)	not provided	GBenign
Select item 1181510	NM_022458.4(LMBR1):c.550+169T>A	LMBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1222225	NM_022458.4(LMBR1):c.550+41C>T	LMBR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 283852	NM_022458.4(LMBR1):c.528C>G (p.Ala176=)	LMBR1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 513276	NM_022458.4(LMBR1):c.424-10dup	LMBR1	Duplication (intron variant)	not specified	GLikely benign
Select item 1181208	NM_022458.4(LMBR1):c.424-218dup	LMBR1, SHH	Duplication (intron variant)	Holoprosencephaly 3 +1 more	GBenign/Likely benign
Select item 1207483	NM_022458.4(LMBR1):c.424-237A>G	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3 +1 more	GBenign/Likely benign
Select item 2501308	NM_022458.4(LMBR1):c.423+5284C>T	LMBR1, ZRS	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 515097	NM_022458.4(LMBR1):c.423+5176A>G	LMBR1, SHH +1 more	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 669009	NM_022458.4(LMBR1):c.423+5020C>G	ZRS, LMBR1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 155923	NM_022458.4(LMBR1):c.423+4919A>G	LMBR1, ZRS	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 1310158	NM_022458.4(LMBR1):c.423+4916T>C	LMBR1, ZRS	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 426635	NM_022458.4(LMBR1):c.423+4545T>C	LMBR1, ZRS	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 768220	NM_022458.4(LMBR1):c.423+4516C>G	LMBR1, ZRS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218154	NM_022458.4(LMBR1):c.423+4218T>C	LMBR1, ZRS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1287664	NM_022458.4(LMBR1):c.423+4179G>A	LMBR1, ZRS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252909	NM_022458.4(LMBR1):c.423+3946T>C	LMBR1, ZRS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279263	NM_022458.4(LMBR1):c.423+3899G>C	LMBR1, ZRS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 359434	NM_022458.4(LMBR1):c.357T>C (p.Cys119=)	LMBR1	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign
Select item 1264171	NM_022458.4(LMBR1):c.320-301C>T	LMBR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227277	NM_022458.4(LMBR1):c.319+260C>G	LMBR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278891	NM_022458.4(LMBR1):c.319+224T>C	LMBR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249934	NM_022458.4(LMBR1):c.180-77G>A	LMBR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194084	NM_022458.4(LMBR1):c.180-146T>C	LMBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1259741	NM_022458.4(LMBR1):c.180-215C>T	LMBR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202374	NM_022458.4(LMBR1):c.180-261T>C	LMBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1237326	NM_022458.4(LMBR1):c.179+171_179+173del	LMBR1	Deletion (intron variant)	not provided	GBenign
Select item 1243247	NM_022458.4(LMBR1):c.179+169_179+170insTTTAGCACTGGT	LMBR1	Insertion (intron variant)	not provided	GBenign
Select item 1265102	NM_022458.4(LMBR1):c.179+43G>A	LMBR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208020	NM_022458.4(LMBR1):c.140-110T>A	LMBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1262739	NM_022458.4(LMBR1):c.140-191C>G	LMBR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227856	NM_022458.4(LMBR1):c.140-209A>G	LMBR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287331	NM_022458.4(LMBR1):c.139+272C>T	LMBR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1197387	NM_022458.4(LMBR1):c.139+124C>G	LMBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1287978	NM_022458.4(LMBR1):c.67-297_67-296dup	LMBR1	Duplication (intron variant)	not provided	GBenign
Select item 1263077	NM_022458.4(LMBR1):c.67-297dup	LMBR1	Duplication (intron variant)	not provided	GBenign
Select item 1274424	NM_022458.4(LMBR1):c.66+229del	LMBR1, LOC129999726	Deletion (intron variant)	not provided	GBenign
Select item 1225195	NM_022458.4(LMBR1):c.66+227C>G	LMBR1, LOC129999726	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266343	NM_022458.4(LMBR1):c.66+223C>T	LMBR1, LOC129999726	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251310	NM_022458.4(LMBR1):c.66+209G>C	LMBR1, LOC129999726	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208440	NM_022458.4(LMBR1):c.66+192C>T	LMBR1, LOC129999726	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1293912	NM_022458.4(LMBR1):c.66+172_66+176del	LMBR1, LOC129999726	Deletion (intron variant)	not provided	GBenign
Select item 1223271	NM_022458.4(LMBR1):c.66+77_66+83del	LMBR1, LOC129999727	Deletion (intron variant)	not provided	GBenign
Select item 1288006	NM_022458.4(LMBR1):c.66+75dup	LMBR1, LOC129999727	Duplication (intron variant)	not provided	GBenign
Select item 1248958	NM_022458.4(LMBR1):c.66+77T>G	LMBR1, LOC129999727	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191081	NM_022458.4(LMBR1):c.66+58C>T	LMBR1, LOC129999727	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1222226	NM_022458.4(LMBR1):c.66+32C>T	LMBR1, LOC129999727	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234860	NM_022458.4(LMBR1):c.66+30T>C	LMBR1, LOC129999727	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 359444	NM_022458.4(LMBR1):c.-183GCT[1]	LMBR1, LOC129999727	Microsatellite (5 prime UTR variant +1 more)	Triphalangeal thumb-polysyndactyly syndrome +1 more	GBenign
Select item 359445	NM_022458.3(LMBR1):c.-215_-214insCCCCGCCCCCG	LMBR1, LOC129999727	Microsatellite	not provided +1 more	GBenign/Likely benign
Select item 1195546	NC_000007.14:g.156893232G>A	LMBR1, LOC129999727	Single nucleotide variant	not provided	GLikely benign
Select item 1252241	NC_000007.14:g.156893407C>T	LMBR1	Single nucleotide variant	not provided	GBenign
Select item 253366	GRCh37/hg19 7q36.3(chr7:156431577-157598312)x1	PTPRN2, MNX1 +5 more	Copy number loss	See cases	GLikely pathogenic

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Items: 100