173110[MIM - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150826	GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1	HTD2, HTR1F +482 more	Copy number loss	See cases	GPathogenic
Select item 153529	GRCh38/hg38 3p13-11.1(chr3:73824871-90453699)x1	C3orf38, CADM2 +124 more	Copy number loss	See cases	GPathogenic
Select item 155598	GRCh38/hg38 3p12.3-11.1(chr3:74649382-89495681)x1	C3orf38, CADM2 +118 more	Copy number loss	See cases	GPathogenic
Select item 146400	GRCh38/hg38 3p12.3-11.1(chr3:76764260-89682935)x1	C3orf38, CADM2 +89 more	Copy number loss	See cases	GLikely pathogenic
Select item 57759	GRCh38/hg38 3p12.2-11.2(chr3:80320584-87468216)x3	CADM2, CADM2-AS1 +48 more	Copy number gain	See cases	GUncertain significance
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 346826	NM_014043.4(CHMP2B):c.*1589G>A	CHMP2B, POU1F1	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign/Likely benign
Select item 346828	NM_000306.4(POU1F1):c.*245A>G	POU1F1	Single nucleotide variant (3 prime UTR variant)	Combined Pituitary Hormone Deficiency, Recessive +1 more	GUncertain significance
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 346830	NM_000306.4(POU1F1):c.179_182del	POU1F1	Deletion (3 prime UTR variant)	Combined Pituitary Hormone Deficiency, Recessive	GUncertain significance
Select item 346831	NM_000306.4(POU1F1):c.*147dup	POU1F1	Duplication (3 prime UTR variant)	Combined Pituitary Hormone Deficiency, Recessive	GUncertain significance
Select item 346832	NM_000306.4(POU1F1):c.*141A>T	POU1F1	Single nucleotide variant (3 prime UTR variant)	Pituitary hormone deficiency, combined, 1	GUncertain significance
Select item 346835	NM_000306.4(POU1F1):c.138_139dup	POU1F1	Duplication (3 prime UTR variant)	Combined Pituitary Hormone Deficiency, Recessive	GUncertain significance
Select item 346834	NM_000306.4(POU1F1):c.*139dup	CHMP2B, POU1F1	Duplication (3 prime UTR variant)	Combined Pituitary Hormone Deficiency, Recessive +1 more	GConflicting classifications of pathogenicity
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 2902128	NM_000306.4(POU1F1):c.873A>G (p.Arg291=)	POU1F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980569	NM_000306.4(POU1F1):c.871A>C (p.Arg291=)	POU1F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966482	NM_000306.4(POU1F1):c.864T>A (p.Leu288=)	POU1F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2960048	NM_000306.4(POU1F1):c.861T>C (p.His287=)	POU1F1	Single nucleotide variant (synonymous variant)	not provided	GLikely 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 13603	NM_000306.4(POU1F1):c.811C>T (p.Arg271Trp)	POU1F1 (R271W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2963711	NM_000306.4(POU1F1):c.801G>A (p.Gln267=)	POU1F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 502259	NM_000306.4(POU1F1):c.797G>C (p.Arg266Thr)	POU1F1 (R266T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2734543	NM_000306.4(POU1F1):c.793C>T (p.Arg265Trp)	POU1F1 (R265W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2992811	NM_000306.4(POU1F1):c.792C>T (p.Asn264=)	POU1F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2790971	NM_000306.4(POU1F1):c.787del (p.Cys263fs)	POU1F1 (C263fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2730117	NM_000306.4(POU1F1):c.783G>A (p.Trp261Ter)	POU1F1 (W287* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3216881	NM_000306.4(POU1F1):c.778G>A (p.Val260Ile)	POU1F1 (V260I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 13615	NM_000306.4(POU1F1):c.775dup (p.Arg259fs)	POU1F1 (R259fs +1 more)	Duplication (frameshift variant)	Pituitary hormone deficiency, combined, 1	GPathogenic
Select item 2908922	NM_000306.4(POU1F1):c.771A>G (p.Val257=)	POU1F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 13607	NM_000306.4(POU1F1):c.748G>T (p.Glu250Ter)	POU1F1 (E250* +1 more)	Single nucleotide variant (nonsense)	Pituitary hormone deficiency, combined, 1	GPathogenic
Select item 13610	NM_000306.4(POU1F1):c.747del (p.Glu250fs)	POU1F1 (E276fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2696599	NM_000306.4(POU1F1):c.723T>G (p.Ser241=)	POU1F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 13609	NM_000306.4(POU1F1):c.715C>T (p.Pro239Ser)	POU1F1 (P239S +1 more)	Single nucleotide variant (missense variant)	Pituitary hormone deficiency, combined, 1	GPathogenic
Select item 2962352	NM_000306.4(POU1F1):c.711T>C (p.Asn237=)	POU1F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 598158	NM_000306.4(POU1F1):c.699T>C (p.Phe233=)	POU1F1	Single nucleotide variant (synonymous 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 2837699	NM_000306.4(POU1F1):c.681T>C (p.Asp227=)	POU1F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 346838	NM_000306.4(POU1F1):c.667A>G (p.Ile223Val)	POU1F1 (I223V +1 more)	Single nucleotide variant (missense variant)	Combined Pituitary Hormone Deficiency, Recessive +1 more	GUncertain significance
Select item 2908288	NM_000306.4(POU1F1):c.666-6dup	POU1F1	Duplication (intron variant)	not provided	GBenign
Select item 2789858	NM_000306.4(POU1F1):c.666-6_666-5insCG	POU1F1	Insertion (intron variant)	not provided	GLikely benign
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 2965582	NM_000306.4(POU1F1):c.666-6C>G	POU1F1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2886006	NM_000306.4(POU1F1):c.666-6del	POU1F1	Deletion (intron variant)	not provided	GBenign
Select item 346839	NM_000306.4(POU1F1):c.666-6C>T	CHMP2B, POU1F1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3005655	NM_000306.4(POU1F1):c.666-7C>T	POU1F1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2801391	NM_000306.4(POU1F1):c.666-8C>T	POU1F1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2715656	NM_000306.4(POU1F1):c.666-8C>A	POU1F1	Single nucleotide variant (intron variant)	not provided	GLikely 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 2819195	NM_000306.4(POU1F1):c.666-9C>A	POU1F1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2854443	NM_000306.4(POU1F1):c.666-10C>T	POU1F1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2841445	NM_000306.4(POU1F1):c.666-10C>A	POU1F1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2806905	NM_000306.4(POU1F1):c.666-11C>A	POU1F1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2801555	NM_000306.4(POU1F1):c.666-11C>T	POU1F1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2829173	NM_000306.4(POU1F1):c.666-13C>T	POU1F1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2868363	NM_000306.4(POU1F1):c.666-16G>A	POU1F1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2796849	NM_000306.4(POU1F1):c.666-18A>G	POU1F1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998016	NM_000306.4(POU1F1):c.666-20dup	POU1F1	Duplication (intron variant)	not provided	GBenign
Select item 2995970	NM_000306.4(POU1F1):c.666-21_666-19del	POU1F1	Deletion (intron variant)	not provided	GLikely benign
Select item 2985657	NM_000306.4(POU1F1):c.666-19del	POU1F1	Deletion (intron variant)	not provided	GLikely benign
Select item 2859259	NM_000306.4(POU1F1):c.666-20C>T	POU1F1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2782611	NM_000306.4(POU1F1):c.665+19G>A	POU1F1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2749240	NM_000306.4(POU1F1):c.665+17A>T	POU1F1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2767342	NM_000306.4(POU1F1):c.665+13T>C	POU1F1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2746430	NM_000306.4(POU1F1):c.665+11T>C	POU1F1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984458	NM_000306.4(POU1F1):c.665+10A>G	POU1F1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000439	NM_000306.4(POU1F1):c.665+9T>C	POU1F1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 126542	NM_000306.4(POU1F1):c.665+1G>T	POU1F1	Single nucleotide variant (splice donor variant)	Pituitary hormone deficiency, combined, 1	GPathogenic
Select item 1183964	NM_000306.4(POU1F1):c.662T>C (p.Ile221Thr)	POU1F1 (I221T +1 more)	Single nucleotide variant (missense variant)	Pituitary hormone deficiency, combined, 1	GLikely pathogenic
Select item 2886544	NM_000306.4(POU1F1):c.651A>C (p.Arg217=)	POU1F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2846205	NM_000306.4(POU1F1):c.644_648del (p.Arg215fs)	POU1F1 (R215fs +1 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2218872	NM_000306.4(POU1F1):c.643A>G (p.Arg215Gly)	POU1F1 (R215G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 254175	NM_000306.4(POU1F1):c.638_642del (p.Arg213fs)	POU1F1 (R239fs +1 more)	Deletion (frameshift variant)	Pituitary hormone deficiency, combined, 1	GLikely pathogenic
Select item 2696272	NM_000306.4(POU1F1):c.634_635del (p.Glu212fs)	POU1F1 (E212fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2746122	NM_000306.4(POU1F1):c.633T>C (p.Asn211=)	POU1F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2759183	NM_000306.4(POU1F1):c.605-5dup	POU1F1	Duplication (intron variant)	not provided	GLikely benign
Select item 346840	NM_000306.4(POU1F1):c.605-5T>G	POU1F1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2973132	NM_000306.4(POU1F1):c.605-7A>G	POU1F1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977313	NM_000306.4(POU1F1):c.605-9A>G	POU1F1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2794389	NM_000306.4(POU1F1):c.605-10C>T	POU1F1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2789812	NM_000306.4(POU1F1):c.605-20CT[5]	POU1F1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2835324	NM_000306.4(POU1F1):c.605-20C>G	POU1F1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 346841	NM_000306.4(POU1F1):c.604+9T>C	POU1F1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2819330	NM_000306.4(POU1F1):c.588A>G (p.Glu196=)	POU1F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2879309	NM_000306.4(POU1F1):c.585G>A (p.Glu195=)	POU1F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 13611	NM_000306.4(POU1F1):c.577T>C (p.Trp193Arg)	POU1F1 (W193R +1 more)	Single nucleotide variant (missense variant)	Pituitary hormone deficiency, combined, 1	GPathogenic
Select item 2905624	NM_000306.4(POU1F1):c.573C>A (p.Ser191=)	POU1F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881117	NM_000306.4(POU1F1):c.558G>C (p.Leu186=)	POU1F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 747557	NM_000306.4(POU1F1):c.546T>C (p.Asn182=)	POU1F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 13616	NM_000306.4(POU1F1):c.537C>G (p.Ser179Arg)	POU1F1 (S179R +1 more)	Single nucleotide variant (missense variant)	Pituitary hormone deficiency, combined, 1	GPathogenic
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 13602	NM_000306.4(POU1F1):c.514C>T (p.Arg172Ter)	POU1F1 (R172* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2283221	NM_000306.4(POU1F1):c.503CAA[1] (p.Thr169del)	POU1F1 (T195del +1 more)	Microsatellite (inframe_deletion)	Inborn genetic diseases	GUncertain significance
Select item 2789612	NM_000306.4(POU1F1):c.504A>C (p.Thr168=)	POU1F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 560655	NM_000306.4(POU1F1):c.500A>C (p.Gln167Pro)	POU1F1 (Q167P +1 more)	Single nucleotide variant (missense variant)	Pituitary hormone deficiency, combined, 1	GLikely pathogenic

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