"GeneDx"[submitter] AND "LOC130001411"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 144948	GRCh38/hg38 8q24.3(chr8:144264907-144668170)x1	ADCK5, ARHGAP39 +74 more	Copy number loss	See cases	GBenign
Select item 58433	GRCh38/hg38 8q24.3(chr8:144287919-144723120)x3	ADCK5, ARHGAP39 +73 more	Copy number gain	See cases	GUncertain significance
Select item 152001	GRCh38/hg38 8q24.3(chr8:144468986-144535245)x3	ARHGAP39, C8orf82 +21 more	Copy number gain	See cases	GBenign
Select item 414185	NM_004260.4(RECQL4):c.171C>T (p.Gly57=)	LOC130001411, RECQL4	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 135157	NM_004260.4(RECQL4):c.161A>G (p.Gln54Arg)	LOC130001411, RECQL4 (Q54R)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 406941	NM_004260.4(RECQL4):c.145A>C (p.Lys49Gln)	LOC130001411, RECQL4 (K49Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 94885	NM_004260.4(RECQL4):c.132A>G (p.Glu44=)	RECQL4, LOC130001411	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 407024	NM_004260.4(RECQL4):c.127C>T (p.Arg43Trp)	LOC130001411, RECQL4 (R43W)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +1 more	GUncertain significance
Select item 509056	NM_004260.4(RECQL4):c.85-13G>T	LOC130001411, RECQL4	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 529004	NM_004260.4(RECQL4):c.25G>A (p.Glu9Lys)	LOC130001411, RECQL4 (E9K)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +4 more	GConflicting classifications of pathogenicity
Select item 652369	NM_004260.4(RECQL4):c.16G>A (p.Asp6Asn)	LOC130001411, RECQL4 (D6N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1198830	NM_004260.4(RECQL4):c.-6C>T	RECQL4, LOC130001411	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GBenign/Likely benign
Select item 1187315	NC_000008.11:g.144518144C>T	LOC130001411, LRRC14 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign