"GeneDx"[submitter] AND "LOC101929130"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 57868	GRCh38/hg38 3q27.2-29(chr3:185485849-198110178)x1	MIR944, MUC20 +557 more	Copy number loss	See cases	GPathogenic
Select item 1238324	NM_139125.4(MASP1):c.5+240C>T	LOC101929130, MASP1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1199031	NM_139125.4(MASP1):c.5+210C>T	LOC101929130, MASP1	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 1228870	NM_139125.4(MASP1):c.5+65G>C	LOC101929130, MASP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243919	NM_139125.4(MASP1):c.5+44C>T	LOC101929130, MASP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1164250	NM_139125.4(MASP1):c.5+4C>T	LOC101929130, MASP1	Single nucleotide variant (intron variant)	3MC syndrome 1 +1 more	GBenign
Select item 1212194	NM_139125.4(MASP1):c.-66G>A	LOC101929130, MASP1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1268494	NC_000003.12:g.187291950T>C	LOC101929130, MASP1	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1178104	NC_000003.12:g.187291951G>A	LOC101929130, MASP1	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1271090	NC_000003.12:g.187291954T>C	LOC101929130, MASP1	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign