Related gene-specific medical variations for Gene (Select 221468) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2656523	NM_001286401.2(TMEM217):c.*198A>G	TMEM217, TMEM217B (I68V)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2519532	NM_001286401.2(TMEM217):c.515C>T (p.Ala172Val)	TMEM217, TMEM217B (A172V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2510832	NM_001286401.2(TMEM217):c.469C>T (p.Arg157Trp)	TMEM217, TMEM217B (R157W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2377376	NM_001286401.2(TMEM217):c.58G>T (p.Val20Phe)	TMEM217, TMEM217B (V20F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2347472	NM_001286401.2(TMEM217):c.419G>C (p.Cys140Ser)	TMEM217, TMEM217B (C140S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2330488	NM_001286401.2(TMEM217):c.46G>A (p.Val16Met)	TMEM217, TMEM217B (V16M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2321958	NM_001286401.2(TMEM217):c.395T>G (p.Leu132Trp)	TMEM217, TMEM217B (L132W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2313939	NM_017772.4(TBC1D22B):c.7G>T (p.Ala3Ser)	TBC1D22B, TMEM217 +1 more (A3S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2303428	NM_001286401.2(TMEM217):c.83T>C (p.Met28Thr)	TMEM217, TMEM217B (M28T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2300722	NM_001286401.2(TMEM217):c.518A>G (p.Glu173Gly)	TMEM217, TMEM217B (E173G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2291214	NM_001286401.2(TMEM217):c.68T>C (p.Ile23Thr)	TMEM217, TMEM217B (I23T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 789885	NM_001286401.2(TMEM217):c.114G>A (p.Gly38=)	TMEM217, TMEM217B	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 768086	NM_001286401.2(TMEM217):c.294T>C (p.Ile98=)	TMEM217, TMEM217B	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 739014	NM_001286401.2(TMEM217):c.471G>A (p.Arg157=)	TMEM217, TMEM217B	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign