Related gene-specific medical variations for Gene (Select 8733) - 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 2989150	NM_003801.4(GPAA1):c.36G>A (p.Ala12=)	GPAA1, LOC130001364	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2863830	NM_003801.4(GPAA1):c.74+1G>A	LOC130001364, GPAA1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2805751	NM_003801.4(GPAA1):c.33C>A (p.Arg11=)	GPAA1, LOC130001364	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2446514	NM_003801.4(GPAA1):c.7C>G (p.Leu3Val)	GPAA1, LOC130001364 (L3V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432238	NM_003801.4(GPAA1):c.1A>C (p.Met1Leu)	GPAA1, LOC130001364 (M1L)	Single nucleotide variant (missense variant +1 more)	Glycosylphosphatidylinositol biosynthesis defect 15	GUncertain significance
Select item 2313160	NM_003801.4(GPAA1):c.17A>G (p.Asp6Gly)	GPAA1, LOC130001364 (D6G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2103810	NM_003801.4(GPAA1):c.52C>G (p.Leu18Val)	GPAA1, LOC130001364 (L18V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2046547	NM_003801.4(GPAA1):c.51G>T (p.Val17=)	GPAA1, LOC130001364	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2044303	NM_003801.4(GPAA1):c.35C>T (p.Ala12Val)	GPAA1, LOC130001364 (A12V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2013464	NM_003801.4(GPAA1):c.26G>A (p.Arg9His)	GPAA1, LOC130001364 (R9H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1958455	NM_003801.4(GPAA1):c.62A>G (p.Asn21Ser)	GPAA1, LOC130001364 (N21S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1956496	NM_003801.4(GPAA1):c.6C>G (p.Gly2=)	GPAA1, LOC130001364	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1937130	NM_003801.4(GPAA1):c.74+9A>G	GPAA1, LOC130001364	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1674232	NM_003801.4(GPAA1):c.74+20A>C	GPAA1, LOC130001364	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1674063	NM_003801.4(GPAA1):c.51G>A (p.Val17=)	GPAA1, LOC130001364	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1603879	NM_003801.4(GPAA1):c.63C>T (p.Asn21=)	GPAA1, LOC130001364	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1601488	NM_003801.4(GPAA1):c.74+16G>T	GPAA1, LOC130001364	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1568567	NM_003801.4(GPAA1):c.45C>T (p.Arg15=)	GPAA1, LOC130001364	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1553512	NM_003801.4(GPAA1):c.74+15C>G	GPAA1, LOC130001364	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1514585	NM_003801.4(GPAA1):c.19C>T (p.Pro7Ser)	GPAA1, LOC130001364 (P7S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1498537	NM_003801.4(GPAA1):c.20C>T (p.Pro7Leu)	GPAA1, LOC130001364 (P7L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1451609	NM_003801.4(GPAA1):c.43del (p.Arg15fs)	GPAA1, LOC130001364 (R15fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1433443	NM_003801.4(GPAA1):c.58C>T (p.Leu20Phe)	GPAA1, LOC130001364 (L20F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1427045	NM_003801.4(GPAA1):c.74+4A>G	GPAA1, LOC130001364	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1397011	NM_003801.4(GPAA1):c.74+1_74+3del	GPAA1, LOC130001364	Microsatellite (splice donor variant)	not provided	GUncertain significance
Select item 1375678	NM_003801.4(GPAA1):c.49G>T (p.Val17Leu)	GPAA1, LOC130001364 (V17L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1098687	NM_003801.4(GPAA1):c.1051G>C (p.Glu351Gln)	GPAA1 (E351Q)	Single nucleotide variant (missense variant)	Glycosylphosphatidylinositol biosynthesis defect 15	GUncertain significance
Select item 1028656	NM_003801.4(GPAA1):c.29G>A (p.Arg10Gln)	GPAA1, LOC130001364 (R10Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 617925	NM_003801.4(GPAA1):c.152C>T (p.Ser51Leu)	GPAA1 (S51L)	Single nucleotide variant (missense variant)	Glycosylphosphatidylinositol biosynthesis defect 15	GLikely pathogenic

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