Related gene-specific medical variations for Gene (Select 339488) - ClinVar

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

Links from Gene

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3176460	NM_178548.4(TFAP2E):c.527G>C (p.Gly176Ala)	TFAP2E, TFAP2E-AS1 (G176A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176459	NM_178548.4(TFAP2E):c.445G>T (p.Gly149Cys)	TFAP2E, TFAP2E-AS1 (G149C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176458	NM_178548.4(TFAP2E):c.398C>T (p.Ala133Val)	TFAP2E, TFAP2E-AS1 (A133V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176457	NM_178548.4(TFAP2E):c.338C>T (p.Pro113Leu)	TFAP2E, TFAP2E-AS1 (P113L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176456	NM_178548.4(TFAP2E):c.330C>A (p.His110Gln)	TFAP2E, TFAP2E-AS1 (H110Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176455	NM_178548.4(TFAP2E):c.254G>A (p.Gly85Asp)	TFAP2E, TFAP2E-AS1 (G85D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558038	NM_178548.4(TFAP2E):c.436G>A (p.Gly146Ser)	TFAP2E, TFAP2E-AS1 (G146S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529531	NM_178548.4(TFAP2E):c.368C>T (p.Ala123Val)	TFAP2E, TFAP2E-AS1 (A123V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509334	NM_178548.4(TFAP2E):c.215C>A (p.Ala72Asp)	TFAP2E, TFAP2E-AS1 (A72D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490730	NM_178548.4(TFAP2E):c.97G>C (p.Gly33Arg)	TFAP2E, TFAP2E-AS1 (G33R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490729	NM_178548.4(TFAP2E):c.262G>C (p.Ala88Pro)	TFAP2E, TFAP2E-AS1 (A88P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411764	NM_178548.4(TFAP2E):c.500A>G (p.Glu167Gly)	TFAP2E, TFAP2E-AS1 (E167G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408084	NM_178548.4(TFAP2E):c.319G>T (p.Ala107Ser)	TFAP2E, TFAP2E-AS1 (A107S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405506	NM_178548.4(TFAP2E):c.86A>C (p.Gln29Pro)	TFAP2E, TFAP2E-AS1 (Q29P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339070	NM_178548.4(TFAP2E):c.330C>G (p.His110Gln)	TFAP2E, TFAP2E-AS1 (H110Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329518	NM_178548.4(TFAP2E):c.520G>C (p.Glu174Gln)	TFAP2E, TFAP2E-AS1 (E174Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325351	NM_178548.4(TFAP2E):c.142G>A (p.Ala48Thr)	TFAP2E, TFAP2E-AS1 (A48T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306082	NM_178548.4(TFAP2E):c.409C>T (p.Pro137Ser)	TFAP2E, TFAP2E-AS1 (P137S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279813	NM_178548.4(TFAP2E):c.263C>T (p.Ala88Val)	TFAP2E, TFAP2E-AS1 (A88V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266508	NM_178548.4(TFAP2E):c.97G>A (p.Gly33Arg)	TFAP2E, TFAP2E-AS1 (G33R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220363	NM_178548.4(TFAP2E):c.296C>T (p.Ala99Val)	TFAP2E, TFAP2E-AS1 (A99V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220362	NM_178548.4(TFAP2E):c.295G>A (p.Ala99Thr)	TFAP2E, TFAP2E-AS1 (A99T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218797	NM_178548.4(TFAP2E):c.482C>T (p.Ala161Val)	TFAP2E, TFAP2E-AS1 (A161V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215291	NM_178548.4(TFAP2E):c.47G>A (p.Gly16Glu)	TFAP2E, TFAP2E-AS1 (G16E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209756	NM_178548.4(TFAP2E):c.529A>T (p.Met177Leu)	TFAP2E, TFAP2E-AS1 (M177L)	Single nucleotide variant (missense variant)	not specified	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: 25