"GeneDx"[submitter] AND "LOC129999727"[gene] - ClinVar - NCBI

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Items: 16

	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 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