ClinVar (all) for Orgtrack (Select 500130) - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 626257	NC_000007.14:g.31008681G>T	GHRHR	Single nucleotide variant	Isolated growth hormone deficiency type IB	GPathogenic
Select item 254176	NM_000306.4(POU1F1):c.215-3C>G	POU1F1	Single nucleotide variant (intron variant)	Pituitary hormone deficiency, combined, 1	GLikely pathogenic
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 219161	NM_003002.4(SDHD):c.386del (p.Leu129fs)	SDHD (L129fs +2 more)	Deletion (frameshift variant +2 more)	Pheochromocytoma	GLikely pathogenic
Select item 219160	NM_000551.4(VHL):c.293A>C (p.Tyr98Ser)	VHL (Y98S)	Single nucleotide variant (missense variant)	Chuvash polycythemia +2 more	GPathogenic/Likely pathogenic
Select item 219159	NM_000551.4(VHL):c.509T>C (p.Val170Ala)	LOC107303340, VHL (V170A +1 more)	Single nucleotide variant (missense variant +1 more)	Pheochromocytoma	GLikely pathogenic
Select item 219158	NM_000551.4(VHL):c.548C>G (p.Ser183Trp)	LOC107303340, VHL (S183W +1 more)	Single nucleotide variant (missense variant +1 more)	Chuvash polycythemia +1 more	GUncertain significance
Select item 219157	NM_000551.4(VHL):c.479A>T (p.Glu160Val)	LOC107303340, VHL (E160V +1 more)	Single nucleotide variant (missense variant +1 more)	Pheochromocytoma	GLikely pathogenic
Select item 219156	NM_000551.4(VHL):c.588dup (p.Asp197fs)	LOC107303340, VHL (D156fs +1 more)	Duplication (frameshift variant +1 more)	Pheochromocytoma	GLikely pathogenic
Select item 219155	NM_003000.3(SDHB):c.131_139del (p.Ile44_Trp47delinsArg)	SDHB	Deletion (inframe_indel)	Pheochromocytoma	GLikely pathogenic
Select item 219154	NM_003000.3(SDHB):c.227T>G (p.Leu76Ter)	SDHB (L76*)	Single nucleotide variant (nonsense)	Pheochromocytoma	GLikely pathogenic
Select item 219153	NM_003000.3(SDHB):c.251A>C (p.Asp84Ala)	SDHB (D84A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 219152	NM_003000.3(SDHB):c.338G>C (p.Cys113Ser)	SDHB (C113S)	Single nucleotide variant (missense variant)	Paragangliomas 4 +2 more	GPathogenic
Select item 161437	NM_000823.4(GHRHR):c.495C>A (p.His165Gln)	GHRHR (H165Q)	Single nucleotide variant (missense variant)	Isolated growth hormone deficiency type IB	GLikely pathogenic
Select item 161436	NM_000823.4(GHRHR):c.281G>A (p.Arg94Gln)	GHRHR (R94Q)	Single nucleotide variant (missense variant)	Isolated growth hormone deficiency, type 4	GLikely pathogenic
Select item 161435	NM_000823.4(GHRHR):c.418T>C (p.Ser140Pro)	GHRHR (S140P)	Single nucleotide variant (missense variant)	Isolated growth hormone deficiency type IB	GLikely pathogenic
Select item 161433	NM_006261.5(PROP1):c.274C>T (p.Gln92Ter)	PROP1 (Q92*)	Single nucleotide variant (nonsense)	Pituitary hormone deficiency, combined, 2	GLikely pathogenic
Select item 161432	NC_000003.12:g.87310484C>T	POU1F1	Single nucleotide variant	Pituitary hormone deficiency, combined, 1	GLikely pathogenic
Select item 140614	NM_000216.4(ANOS1):c.1A>G (p.Met1Val)	ANOS1 (M1V)	Single nucleotide variant (missense variant +1 more)	ANOS1-related condition	GPathogenic
Select item 140613	NM_033163.5(FGF8):c.237C>G (p.Leu79=)	FGF8	Single nucleotide variant (5 prime UTR variant +1 more)	FGF8-related condition	GLikely benign
Select item 140612	NM_033163.5(FGF8):c.451G>A (p.Gly151Ser)	FGF8 (G151S +4 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 6 with or without anosmia	GUncertain significance
Select item 140611	NM_000406.3(GNRHR):c.806C>T (p.Thr269Met)	GNRHR (T269M)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 7 with or without anosmia	GPathogenic
Select item 140610	NM_000406.3(GNRHR):c.392T>C (p.Met131Thr)	GNRHR (M131T)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GPathogenic
Select item 132648	NM_023110.3(FGFR1):c.2084C>T (p.Thr695Ile)	FGFR1 (T695I +7 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 2 with or without anosmia	GPathogenic
Select item 132647	NM_023110.3(FGFR1):c.1460G>A (p.Gly487Asp)	FGFR1 (G487D +7 more)	Single nucleotide variant (missense variant)	Hartsfield-Bixler-Demyer syndrome	GPathogenic
Select item 132646	NM_023110.3(FGFR1):c.790A>C (p.Asn264His)	FGFR1 (N264H +5 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 2 with or without anosmia	GPathogenic
Select item 132645	NM_023110.3(FGFR1):c.443G>A (p.Arg148His)	FGFR1 (R148H +2 more)	Single nucleotide variant (missense variant +1 more)	Trigonocephaly 1 +7 more	GUncertain significance
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 126541	NM_000406.3(GNRHR):c.94A>G (p.Thr32Ala)	GNRHR (T32A)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 126540	NM_000406.3(GNRHR):c.842C>T (p.Thr281Ile)	GNRHR (T281I)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 7 with or without anosmia	GPathogenic
Select item 88740	NC_000007.14:g.62535490A>G		Single nucleotide variant	Isolated growth hormone deficiency type IB	GPathogenic
Select item 88647	NM_000216.4(ANOS1):c.1449+2del	ANOS1	Deletion (splice donor variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GPathogenic
Select item 66010	NM_032551.5(KISS1R):c.167del (p.Gly56fs)	KISS1R (G56fs)	Deletion (frameshift variant)	not provided	Gnot provided
Select item 56966	NC_000007.14:g.30959635_30967328delinsAGAGATCCA	GHRHR	Indel	Isolated growth hormone deficiency type IB	GPathogenic
Select item 8101	NM_006261.5(PROP1):c.112_124del (p.Ser38fs)	PROP1 (S38fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic

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Items: 35