"GeneDx"[submitter] AND "POU4F1"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57644	GRCh38/hg38 13q22.3-32.1(chr13:78349126-94701844)x1	DCT, GPC5 +121 more	Copy number loss	See cases	GPathogenic
Select item 2506790	NM_006237.4(POU4F1):c.840C>G (p.Ile280Met)	OBI1-AS1, POU4F1 (I280M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1878732	NM_006237.4(POU4F1):c.394G>C (p.Gly132Arg)	POU4F1, OBI1-AS1 (G132R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2573972	NM_006237.4(POU4F1):c.365C>A (p.Ser122Ter)	POU4F1, OBI1-AS1 (S122*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1178627	NM_006237.4(POU4F1):c.302_309dup (p.His104fs)	OBI1-AS1, POU4F1 (H104fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3253117	NM_006237.4(POU4F1):c.256_257del (p.Asn86fs)	OBI1-AS1, POU4F1 (N86fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3370546	NM_006237.4(POU4F1):c.169_170del (p.Arg57fs)	OBI1-AS1, POU4F1 (R57fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 253533	GRCh37/hg19 13q21.33-31.2(chr13:72013791-88021559)x1	ACOD1, BORA +27 more	Copy number loss	See cases	GPathogenic
Select item 253405	GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3	GTF2F2, LINC00567 +332 more	Copy number gain	See cases	GPathogenic
Select item 3362206	NM_006237.4(POU4F1):c.694_729del (p.Ala232_Ala243del)	POU4F1	Deletion (inframe_deletion)	not provided	GUncertain significance