Related gene-specific medical variations for Gene (Select 8729) - ClinVar

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

Links from Gene

Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236643	NM_001377137.1(GBF1):c.556G>C (p.Val186Leu)	GBF1 (V186L)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease, dominant intermediate A +1 more	GUncertain significance
Select item 3213322	NM_005029.4(PITX3):c.677C>A (p.Ala226Asp)	GBF1, LOC130004591 +1 more (A226D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3213321	NM_005029.4(PITX3):c.464A>G (p.Asn155Ser)	GBF1, PITX3 (N155S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3213319	NM_005029.4(PITX3):c.269G>C (p.Ser90Thr)	GBF1, PITX3 (S90T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3213318	NM_005029.4(PITX3):c.114C>A (p.His38Gln)	GBF1, PITX3 (H38Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3065522	NM_001377137.1(GBF1):c.3499G>A (p.Glu1167Lys)	GBF1 (E1040K +9 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth Disease, axonal, type 2GG	GUncertain significance
Select item 3047919	NM_005029.4(PITX3):c.759C>T (p.Pro253=)	GBF1, LOC130004591 +1 more	Single nucleotide variant (synonymous variant +1 more)	PITX3-related disorder	GLikely benign
Select item 3030213	NM_005029.4(PITX3):c.483T>G (p.Leu161=)	GBF1, PITX3	Single nucleotide variant (synonymous variant +1 more)	PITX3-related disorder	GLikely benign
Select item 3025816	NM_005029.4(PITX3):c.662G>C (p.Gly221Ala)	GBF1, PITX3 (G221A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3015982	NM_005029.4(PITX3):c.185A>G (p.Gln62Arg)	GBF1, PITX3 (Q62R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3015864	NM_005029.4(PITX3):c.32C>T (p.Ala11Val)	GBF1, PITX3 (A11V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2968291	NM_005029.4(PITX3):c.669C>T (p.Pro223=)	GBF1, PITX3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2894634	NM_005029.4(PITX3):c.661G>A (p.Gly221Ser)	GBF1, PITX3 (G221S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2836795	NM_005029.4(PITX3):c.441G>T (p.Val147=)	GBF1, PITX3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2833834	NM_001377137.1(GBF1):c.1621A>C (p.Ile541Leu)	GBF1, LOC129390225 (I541L +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2722578	NM_005029.4(PITX3):c.586G>A (p.Ala196Thr)	GBF1, PITX3 (A196T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2640787	NM_005029.4(PITX3):c.234G>A (p.Glu78=)	GBF1, PITX3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2635698	NM_005029.4(PITX3):c.703G>A (p.Val235Met)	GBF1, LOC130004591 +1 more (V235M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2607847	NM_005029.4(PITX3):c.740C>T (p.Ala247Val)	GBF1, LOC130004591 +1 more (A247V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2576183	NM_001377137.1(GBF1):c.73C>T (p.Arg25Ter)	GBF1 (R25*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2483932	NM_005029.4(PITX3):c.524A>C (p.Asn175Thr)	GBF1, PITX3 (N175T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2434868	NM_005029.4(PITX3):c.181A>C (p.Lys61Gln)	GBF1, PITX3 (K61Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2412872	NM_005029.4(PITX3):c.682G>A (p.Ala228Thr)	GBF1, LOC130004591 +1 more (A228T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2361463	NM_005029.4(PITX3):c.677C>T (p.Ala226Val)	GBF1, LOC130004591 +1 more (A226V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2234383	NM_005029.4(PITX3):c.14T>C (p.Leu5Pro)	GBF1, PITX3 (L5P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2190037	NM_005029.4(PITX3):c.322-11C>G	GBF1, PITX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2162942	NM_005029.4(PITX3):c.771G>A (p.Arg257=)	GBF1, PITX3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2146233	NM_005029.4(PITX3):c.34C>G (p.Arg12Gly)	GBF1, PITX3 (R12G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2079724	NM_005029.4(PITX3):c.699G>A (p.Gly233=)	GBF1, LOC130004591 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2040191	NM_005029.4(PITX3):c.445C>A (p.Pro149Thr)	GBF1, PITX3 (P149T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1500829	NM_005029.4(PITX3):c.617del (p.Pro206fs)	GBF1, PITX3 (P206fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1456216	NM_005029.4(PITX3):c.636_637dup (p.Gly213fs)	GBF1, PITX3 (G213fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 1306042	NM_005029.4(PITX3):c.397T>C (p.Phe133Leu)	GBF1, PITX3 (F133L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1301674	NM_005029.4(PITX3):c.88G>A (p.Glu30Lys)	GBF1, PITX3 (E30K)	Single nucleotide variant (missense variant +1 more)	Anterior segment dysgenesis 1	GUncertain significance
Select item 1286452	NM_005029.4(PITX3):c.-12-273A>G	GBF1, PITX3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246648	NM_005029.4(PITX3):c.321+142C>G	GBF1, PITX3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218752	NM_005029.4(PITX3):c.322-132C>G	GBF1, PITX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1035812	NM_005029.4(PITX3):c.448G>T (p.Gly150Cys)	GBF1, PITX3 (G150C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1025063	NM_005029.4(PITX3):c.55T>A (p.Ser19Thr)	GBF1, PITX3 (S19T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1012557	NM_005029.4(PITX3):c.773A>G (p.Asp258Gly)	GBF1, PITX3 (D258G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 671634	NM_005029.4(PITX3):c.285C>A (p.Ile95=)	GBF1, PITX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 665913	NM_005029.4(PITX3):c.726CGC[6] (p.Ala250dup)	GBF1, LOC130004591 +1 more	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 620191	NM_005029.4(PITX3):c.762C>A (p.Tyr254Ter)	GBF1, LOC130004591 +1 more (Y254*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 583055	NM_005029.4(PITX3):c.388A>T (p.Lys130Ter)	GBF1, PITX3 (K130*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 468353	NM_005029.4(PITX3):c.640_656dup (p.Gly220fs)	GBF1, PITX3 (G220fs)	Duplication (frameshift variant)	Cataract 11 multiple types +1 more	GPathogenic
Select item 468252	NM_005029.4(PITX3):c.640_656del (p.Ala214fs)	GBF1, PITX3 (A214fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 468251	NM_005029.4(PITX3):c.414G>T (p.Gly138=)	GBF1, PITX3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 372897	NM_005029.4(PITX3):c.646C>T (p.Gln216Ter)	GBF1, PITX3 (Q216*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 283807	NM_005029.4(PITX3):c.42T>C (p.Pro14=)	GBF1, PITX3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 196404	NM_005029.4(PITX3):c.285C>T (p.Ile95=)	GBF1, PITX3	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 6939	NM_005029.4(PITX3):c.650del (p.Gly217fs)	PITX3, GBF1 (G217fs)	Deletion (frameshift variant)	Cataract 11, posterior polar +1 more	GPathogenic
Select item 6938	NM_005029.4(PITX3):c.38G>A (p.Ser13Asn)	GBF1, PITX3 (S13N)	Single nucleotide variant (missense variant)	Cataract 11 multiple types	GPathogenic

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: 52