"GeneDx"[submitter] AND "POU1F1"[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57802	GRCh38/hg38 3p12.2-11.1(chr3:82912987-90179222)x1	C3orf38, CADM2 +54 more	Copy number loss	See cases	GPathogenic
Select item 346829	NM_000306.4(POU1F1):c.*213=	CHMP2B, POU1F1	Single nucleotide variant (no sequence alteration)	Pituitary hormone deficiency, combined, 1 +2 more	GBenign
Select item 346833	NM_000306.4(POU1F1):c.*140A>T	CHMP2B, POU1F1	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign/Likely benign
Select item 346836	NM_000306.4(POU1F1):c.*139T>A	CHMP2B, POU1F1	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign/Likely benign
Select item 346837	NM_000306.4(POU1F1):c.*138T>A	CHMP2B, POU1F1	Single nucleotide variant (3 prime UTR variant)	Pituitary hormone deficiency, combined, 1 +3 more	GBenign/Likely benign
Select item 3368405	NM_000306.4(POU1F1):c.824G>A (p.Ser275Asn)	POU1F1 (S275N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2581801	NM_000306.4(POU1F1):c.698T>C (p.Phe233Ser)	POU1F1 (F233S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 13613	NM_000306.4(POU1F1):c.688G>A (p.Glu230Lys)	POU1F1 (E230K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1202172	NM_000306.4(POU1F1):c.671C>T (p.Ala224Val)	POU1F1 (A224V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 198069	NM_000306.4(POU1F1):c.666-5G>A	POU1F1, CHMP2B	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 1310748	NM_000306.4(POU1F1):c.666-8C>G	POU1F1	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 998004	NM_000306.4(POU1F1):c.649C>T (p.Arg217Ter)	POU1F1 (R217* +1 more)	Single nucleotide variant (nonsense)	Pituitary hormone deficiency, combined, 1 +1 more	GConflicting classifications of pathogenicity
Select item 13614	NM_000306.4(POU1F1):c.515G>A (p.Arg172Gln)	POU1F1 (R172Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1262639	NM_000306.4(POU1F1):c.439+291T>C	POU1F1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232020	NM_000306.4(POU1F1):c.439+85G>A	POU1F1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 513086	NM_000306.4(POU1F1):c.439+4T>C	POU1F1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 346844	NM_000306.4(POU1F1):c.370A>G (p.Met124Val)	POU1F1 (M124V +1 more)	Single nucleotide variant (missense variant)	Combined Pituitary Hormone Deficiency, Recessive +3 more	GConflicting classifications of pathogenicity
Select item 1306652	NM_000306.4(POU1F1):c.301G>A (p.Asp101Asn)	POU1F1 (D101N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1302173	NM_000306.4(POU1F1):c.143-2A>G	POU1F1	Single nucleotide variant (synonymous variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 424407	NM_000306.4(POU1F1):c.143-64T>G	POU1F1 (S53A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3340314	NM_000306.4(POU1F1):c.143-83A>G	POU1F1	Single nucleotide variant (intron variant)	not provided	GPathogenic
Select item 1309676	NM_000306.4(POU1F1):c.106_107delinsGT (p.Pro36Val)	POU1F1 (P36V)	Indel (missense variant)	not provided	GUncertain significance
Select item 1209024	NM_000306.4(POU1F1):c.104T>C (p.Leu35Pro)	POU1F1 (L35P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 13605	NM_000306.4(POU1F1):c.71C>T (p.Pro24Leu)	POU1F1 (P24L)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 585096	NM_000306.4(POU1F1):c.40C>G (p.Pro14Ala)	POU1F1 (P14A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1282388	NC_000003.12:g.87276603G>A	POU1F1	Single nucleotide variant	not provided	GBenign

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Items: 26