Related gene-specific medical variations for Gene (Select 51222) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3335156	NM_016423.3(ZNF219):c.88T>A (p.Ser30Thr)	LOC124958012, ZNF219 (S30T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194448	NM_016423.3(ZNF219):c.302G>A (p.Arg101His)	LOC124958012, ZNF219 (R101H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2529331	NM_016423.3(ZNF219):c.360G>T (p.Leu120Phe)	LOC124958012, ZNF219 (L120F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527167	NM_016423.3(ZNF219):c.187G>C (p.Gly63Arg)	LOC124958012, ZNF219 (G63R)	Single nucleotide variant (missense variant)	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)	ZNF219, TMEM253 (T103P +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2388098	NM_016423.3(ZNF219):c.686A>C (p.Gln229Pro)	LOC130055281, ZNF219 (Q229P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380910	NM_016423.3(ZNF219):c.112G>C (p.Gly38Arg)	LOC124958012, ZNF219 (G38R)	Single nucleotide variant (missense variant)	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 2365610	NM_016423.3(ZNF219):c.655C>A (p.Leu219Met)	LOC130055281, ZNF219 (L219M)	Single nucleotide variant (missense variant)	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 2314121	NM_016423.3(ZNF219):c.217G>A (p.Ala73Thr)	LOC124958012, ZNF219 (A73T)	Single nucleotide variant (missense variant)	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
Select item 91993	NM_016423.3(ZNF219):c.60C>T (p.Phe20=)	ZNF219	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 29