"GeneDx"[submitter] AND "LOC113845788"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145168	GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1	LOC125467786, LOC125467787 +1203 more	Copy number loss	See cases	GPathogenic
Select item 58661	GRCh38/hg38 Xq21.1-25(chrX:81261589-126519353)x3	LOC126863293, LOC126863294 +478 more	Copy number gain	See cases	GPathogenic
Select item 452955	NM_001079872.2(CUL4B):c.494T>C (p.Val165Ala)	CUL4B, LOC113845788 (V183A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373278	NM_001079872.2(CUL4B):c.461A>G (p.His154Arg)	CUL4B, LOC113845788 (H154R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 372872	NM_001079872.2(CUL4B):c.422A>G (p.Asn141Ser)	CUL4B, LOC113845788 (N159S +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 420582	NM_001079872.2(CUL4B):c.360CTC[7] (p.Ser128dup)	CUL4B, LOC113845788	Microsatellite (inframe_insertion)	not specified +2 more	GLikely benign
Select item 504176	NM_001079872.2(CUL4B):c.360CTC[3] (p.Ser126_Ser128del)	CUL4B, LOC113845788	Microsatellite (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 418570	NM_001079872.2(CUL4B):c.360CTC[5] (p.Ser128del)	CUL4B, LOC113845788 (S146del +2 more)	Microsatellite (inframe_deletion)	X-linked intellectual disability Cabezas type +1 more	GLikely benign
Select item 3368651	NM_001079872.2(CUL4B):c.327T>G (p.Phe109Leu)	CUL4B, LOC113845788 (F109L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 533698	NM_001079872.2(CUL4B):c.319C>G (p.Leu107Val)	CUL4B, LOC113845788 (L125V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2662039	NM_001079872.2(CUL4B):c.314A>T (p.Asp105Val)	CUL4B, LOC113845788 (D105V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1305051	NM_001079872.2(CUL4B):c.175G>A (p.Asp59Asn)	CUL4B, LOC113845788 (D59N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1698238	NM_001079872.2(CUL4B):c.165AGA[1] (p.Glu56del)	CUL4B, LOC113845788 (E56del +2 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1800635	NM_001079872.2(CUL4B):c.144_152del (p.48SSN[1])	CUL4B, LOC113845788	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1206135	NM_001079872.2(CUL4B):c.131GCAGCAGTA[1] (p.Ser47_Ser49del)	CUL4B, LOC113845788	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 2574888	NM_001079872.2(CUL4B):c.111G>C (p.Lys37Asn)	CUL4B, LOC113845788 (K37N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1710583	NM_001079872.2(CUL4B):c.94C>A (p.Pro32Thr)	CUL4B, LOC113845788 (P32T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1313939	NM_001079872.2(CUL4B):c.65C>T (p.Ser22Phe)	CUL4B, LOC113845788 (S22F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance