ClinVar for MedGen (Select 76025) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 376165	NM_005027.4(PIK3R2):c.1681A>G (p.Asn561Asp)	PIK3R2 (N561D)	Single nucleotide variant (non-coding transcript variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GLikely pathogenic
Select item 376164	NM_000141.5(FGFR2):c.1605G>A (p.Met535Ile)	FGFR2 (M535I +9 more)	Single nucleotide variant (missense variant +1 more)	Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation	GLikely pathogenic
Select item 376163	NM_000141.5(FGFR2):c.1605G>C (p.Met535Ile)	FGFR2 (M535I +9 more)	Single nucleotide variant (missense variant +1 more)	Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation	GLikely pathogenic
Select item 376162	NM_000141.5(FGFR2):c.1605G>T (p.Met535Ile)	FGFR2 (M535I +9 more)	Single nucleotide variant (missense variant +1 more)	Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation	GLikely pathogenic
Select item 376161	NM_000141.5(FGFR2):c.1611G>A (p.Met537Ile)	FGFR2 (M537I +9 more)	Single nucleotide variant (missense variant +1 more)	Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation	GLikely pathogenic
Select item 376160	NM_000141.5(FGFR2):c.1611G>C (p.Met537Ile)	FGFR2 (M537I +9 more)	Single nucleotide variant (missense variant +1 more)	Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation	GLikely pathogenic
Select item 376159	NM_000141.5(FGFR2):c.1611G>T (p.Met537Ile)	FGFR2 (M537I +9 more)	Single nucleotide variant (missense variant +1 more)	Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation	GLikely pathogenic
Select item 376158	NM_000141.5(FGFR2):c.1639A>G (p.Ile547Val)	FGFR2 (I547V +9 more)	Single nucleotide variant (missense variant +1 more)	Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation	GLikely pathogenic
Select item 376157	NM_000141.5(FGFR2):c.1647T>A (p.Asn549Lys)	FGFR2 (N549K +9 more)	Single nucleotide variant (missense variant +1 more)	Breast neoplasm +4 more	GLikely pathogenic
Select item 376156	NM_000141.5(FGFR2):c.1647T>G (p.Asn549Lys)	FGFR2 (N549K +9 more)	Single nucleotide variant (missense variant +1 more)	Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation	GLikely pathogenic
Select item 376155	NM_000141.5(FGFR2):c.1690G>A (p.Val564Ile)	FGFR2 (V564I +9 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 376154	NM_000141.5(FGFR2):c.1849T>A (p.Leu617Met)	FGFR2 (L617M +9 more)	Single nucleotide variant (missense variant +1 more)	Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation	GLikely pathogenic
Select item 376153	NM_000141.5(FGFR2):c.1975A>G (p.Lys659Glu)	FGFR2 (K659E +9 more)	Single nucleotide variant (missense variant +1 more)	Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation	GLikely pathogenic
Select item 376152	NM_005228.5(EGFR):c.2068G>A (p.Glu690Lys)	EGFR (E690K +3 more)	Single nucleotide variant (missense variant)	Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation	GLikely pathogenic
Select item 374823	NM_000141.5(FGFR2):c.1694A>G (p.Glu565Gly)	FGFR2 (E565G +9 more)	Single nucleotide variant (missense variant +1 more)	Acrocephalosyndactyly type I +12 more	GPathogenic/Likely pathogenic
Select item 374821	NM_000141.5(FGFR2):c.1645A>C (p.Asn549His)	FGFR2 (N549H +9 more)	Single nucleotide variant (missense variant +1 more)	Crouzon syndrome	GLikely pathogenic
Select item 13983	NM_001382430.1(AKT1):c.49G>A (p.Glu17Lys)	AKT1 (E17K)	Single nucleotide variant (missense variant)	Proteus syndrome +3 more	GPathogenic OOncogenic
Select item 13272	NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp)	FGFR2 (S252W +3 more)	Single nucleotide variant (missense variant +2 more)	FGFR2-related disorder +14 more	GPathogenic