ClinVar for MedGen (Select 438) - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2576980	NM_023110.3(FGFR1):c.1179_2378dup (p.Val429_Asn763delinsGluSerArgTrpGlyIleCysThrLeuSerThrThrSerLeuSerGlyProLeuMetProCysProLeuHisCysProTer)	FGFR1	Duplication (nonsense +3 more)	Astrocytoma	GUncertain significance
Select item 1698836	NM_004656.4(BAP1):c.437G>C (p.Arg146Thr)	BAP1 (R146T)	Single nucleotide variant (missense variant)	Astrocytoma	GLikely pathogenic
Select item 1435621	NM_001384732.1(CPLANE1):c.356A>G (p.Tyr119Cys)	CPLANE1 (Y119C)	Single nucleotide variant (missense variant)	Astrocytoma +3 more	GUncertain significance
Select item 523362	NM_000368.5(TSC1):c.359T>C (p.Leu120Pro)	TSC1 (L120P)	Single nucleotide variant (missense variant +2 more)	Astrocytoma +2 more	GUncertain significance
Select item 504473	NC_000014.9:g.38411139_38421941dup		Duplication	Astrocytoma	GLikely pathogenic
Select item 503606	NM_003482.4(KMT2D):c.15876G>C (p.Glu5292Asp)	KMT2D (E5292D)	Single nucleotide variant (missense variant)	Astrocytoma	GUncertain significance
Select item 503605	NM_001281766.3(EPHA5):c.1043A>G (p.Asp348Gly)	EPHA5 (D348G +1 more)	Single nucleotide variant (missense variant)	Astrocytoma	GUncertain significance
Select item 496813	NM_001374828.1(ARID1B):c.1000T>G (p.Cys334Gly)	ARID1B (C251G +1 more)	Single nucleotide variant (missense variant)	Astrocytoma	GUncertain significance
Select item 434329	NM_006015.6(ARID1A):c.48GCC[6] (p.Pro21dup)	ARID1A	Microsatellite (inframe_insertion)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 376435	NM_002107.7(H3-3A):c.83A>T (p.Lys28Met)	H3-3A (K28M)	Single nucleotide variant (missense variant)	Astrocytoma +1 more	GLikely pathogenic
Select item 376430	NM_023110.3(FGFR1):c.1543A>G (p.Met515Val)	FGFR1 (M515V +7 more)	Single nucleotide variant (missense variant)	Gastric adenocarcinoma +4 more	GLikely pathogenic
Select item 376429	NM_023110.3(FGFR1):c.1636A>G (p.Asn546Asp)	FGFR1 (N546D +7 more)	Single nucleotide variant (missense variant)	Astrocytoma +4 more	GLikely pathogenic
Select item 376428	NM_023110.3(FGFR1):c.1968G>C (p.Lys656Asn)	FGFR1 (K656N +7 more)	Single nucleotide variant (missense variant)	Lymphoblastic leukemia, acute, with lymphomatous features +5 more	GLikely pathogenic
Select item 375893	NM_005896.4(IDH1):c.394C>A (p.Arg132Ser)	IDH1 (R132S)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 375891	NM_005896.4(IDH1):c.394C>T (p.Arg132Cys)	IDH1 (R132C)	Single nucleotide variant (missense variant)	Enchondromatosis +5 more	GPathogenic/Likely pathogenic OOncogenic
Select item 224897	NM_023110.3(FGFR1):c.1966A>G (p.Lys656Glu)	FGFR1 (K656E +7 more)	Single nucleotide variant (missense variant)	Medulloblastoma +7 more	GConflicting classifications of pathogenicity
Select item 224896	NM_023110.3(FGFR1):c.1638C>A (p.Asn546Lys)	FGFR1 (N546K +7 more)	Single nucleotide variant (missense variant)	Rosette-forming glioneuronal tumor +2 more	GPathogenic OOncogenic
Select item 156444	NM_005896.4(IDH1):c.395G>A (p.Arg132His)	IDH1 (R132H)	Single nucleotide variant (missense variant)	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria +4 more	GPathogenic/Likely pathogenic OOncogenic
Select item 142324	NM_000546.6(TP53):c.848G>A (p.Arg283His)	TP53 (R151H +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +7 more	GUncertain significance
Select item 128042	NM_007194.4(CHEK2):c.1100del (p.Thr367fs)	CHEK2 (T146fs +4 more)	Deletion (frameshift variant)	Colorectal cancer +21 more	GPathogenic
Select item 13339	NM_002834.5(PTPN11):c.227A>C (p.Glu76Ala)	PTPN11 (E76A +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 13338	NM_002834.5(PTPN11):c.227A>G (p.Glu76Gly)	PTPN11 (E76G +1 more)	Single nucleotide variant (missense variant)	RASopathy +2 more	GConflicting classifications of pathogenicity
Select item 13336	NM_002834.5(PTPN11):c.226G>A (p.Glu76Lys)	PTPN11 (E76K +1 more)	Single nucleotide variant (missense variant)	RASopathy +3 more	GConflicting classifications of pathogenicity

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Items: 23