Related gene-specific medical variations for Gene (Select 643382) - ClinVar

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Links from Gene

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3179302	NM_001395467.1(TMEM253):c.604G>A (p.Glu202Lys)	TMEM253, ZNF219 (E165K +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3179301	NM_001395467.1(TMEM253):c.430A>T (p.Thr144Ser)	TMEM253, ZNF219 (T107S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3179300	NM_001395467.1(TMEM253):c.340G>A (p.Glu114Lys)	TMEM253, ZNF219 (E114K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3179299	NM_001395467.1(TMEM253):c.281G>A (p.Arg94Gln)	TMEM253, ZNF219 (R94Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3179298	NM_001395467.1(TMEM253):c.206G>T (p.Gly69Val)	TMEM253, ZNF219 (G69V)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2603178	NM_001395467.1(TMEM253):c.55A>G (p.Lys19Glu)	TMEM253, ZNF219 (K19E)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2601468	NM_001395467.1(TMEM253):c.390T>A (p.His130Gln)	TMEM253, ZNF219 (H93Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2548489	NM_001395467.1(TMEM253):c.484A>G (p.Lys162Glu)	TMEM253, ZNF219 (K125E +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2536788	NM_001395467.1(TMEM253):c.46C>T (p.Arg16Cys)	TMEM253, ZNF219 (R16C)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2516198	NM_001395467.1(TMEM253):c.616C>G (p.Gln206Glu)	TMEM253, ZNF219 (Q111E +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2405442	NM_001395467.1(TMEM253):c.592A>C (p.Thr198Pro)	TMEM253, ZNF219 (T103P +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2373887	NM_001395467.1(TMEM253):c.318G>T (p.Leu106Phe)	TMEM253, ZNF219 (L106F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352252	NM_001395467.1(TMEM253):c.25G>C (p.Glu9Gln)	TMEM253, ZNF219 (E9Q)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2351667	NM_001395467.1(TMEM253):c.139G>A (p.Val47Met)	TMEM253, ZNF219 (V47M)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2289097	NM_001395467.1(TMEM253):c.8A>G (p.Asp3Gly)	TMEM253, ZNF219 (D3G)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2266848	NM_001395467.1(TMEM253):c.373A>G (p.Thr125Ala)	TMEM253, ZNF219 (T88A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255727	NM_001395467.1(TMEM253):c.301A>T (p.Thr101Ser)	TMEM253, ZNF219 (T64S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234712	NM_001395467.1(TMEM253):c.457C>T (p.His153Tyr)	TMEM253, ZNF219 (H116Y +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2225547	NM_001395467.1(TMEM253):c.614G>A (p.Gly205Glu)	TMEM253, ZNF219 (G205E +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2223609	NM_001395467.1(TMEM253):c.238G>A (p.Val80Ile)	TMEM253, ZNF219 (V43I +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance

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Links from Gene

Items: 20