FOSL2[gene] and "single gene"[properties] - ClinVar

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

Search results

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3096231	NM_005253.4(FOSL2):c.157G>A (p.Ala53Thr)	FOSL2 (A53T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253682	NM_005253.4(FOSL2):c.205A>G (p.Ile69Val)	FOSL2 (I69V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207121	NM_005253.4(FOSL2):c.216G>A (p.Met72Ile)	FOSL2 (M72I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385478	NM_005253.4(FOSL2):c.223C>G (p.Pro75Ala)	FOSL2 (P75A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283939	NM_005253.4(FOSL2):c.232C>T (p.Arg78Cys)	FOSL2 (R78C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3096232	NM_005253.4(FOSL2):c.248G>T (p.Ser83Ile)	FOSL2 (S83I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242361	NM_005253.4(FOSL2):c.579_589del (p.Ser194fs)	FOSL2 (S194fs)	Deletion (frameshift variant)	Aplasia cutis-enamel dysplasia syndrome	GPathogenic
Select item 3242357	NM_005253.4(FOSL2):c.595C>T (p.Arg199Ter)	FOSL2 (R199*)	Single nucleotide variant (nonsense)	Aplasia cutis-enamel dysplasia syndrome	GPathogenic
Select item 3242360	NM_005253.4(FOSL2):c.605del (p.Pro202fs)	FOSL2 (P202fs)	Deletion (frameshift variant)	Aplasia cutis-enamel dysplasia syndrome	GPathogenic
Select item 2338344	NM_005253.4(FOSL2):c.607G>A (p.Ala203Thr)	FOSL2 (A203T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242358	NM_005253.4(FOSL2):c.619C>T (p.Gln207Ter)	FOSL2 (Q207*)	Single nucleotide variant (nonsense)	Aplasia cutis-enamel dysplasia syndrome	GPathogenic
Select item 2385671	NM_005253.4(FOSL2):c.628C>T (p.Arg210Cys)	FOSL2 (R210C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240152	NM_005253.4(FOSL2):c.629G>A (p.Arg210His)	FOSL2 (R210H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096233	NM_005253.4(FOSL2):c.644C>T (p.Ser215Leu)	FOSL2 (S215L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242359	NM_005253.4(FOSL2):c.662_663del (p.Val221fs)	FOSL2 (V221fs)	Deletion (frameshift variant)	Aplasia cutis-enamel dysplasia syndrome	GPathogenic
Select item 2456806	NM_005253.4(FOSL2):c.695C>T (p.Ser232Leu)	FOSL2 (S232L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589446	NM_005253.4(FOSL2):c.706G>A (p.Ala236Thr)	FOSL2 (A236T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234132	NM_005253.4(FOSL2):c.745A>C (p.Ile249Leu)	FOSL2 (I249L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1321990	NM_005253.4(FOSL2):c.810_811del (p.Pro271fs)	FOSL2 (P271fs)	Microsatellite (frameshift variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 2621002	NM_005253.4(FOSL2):c.808A>G (p.Thr270Ala)	FOSL2 (T270A)	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

Search results

Items: 20