ClinVar for MedGen (Select 1800401) - ClinVar

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

Links from MedGen

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2505531	NM_002860.4(ALDH18A1):c.41A>G (p.Asn14Ser)	ALDH18A1 (N14S)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive complex spastic paraplegia type 9B +1 more	GUncertain significance
Select item 1679568	NM_002860.4(ALDH18A1):c.89-1G>C	ALDH18A1	Single nucleotide variant (intron variant +1 more)	Hereditary spastic paraplegia 9A +3 more	GUncertain significance
Select item 1333857	NM_002860.4(ALDH18A1):c.1493G>T (p.Gly498Val)	ALDH18A1 (G286V +5 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 9A	GUncertain significance
Select item 1301642	NM_002860.4(ALDH18A1):c.1237G>C (p.Glu413Gln)	ALDH18A1 (E201Q +5 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 9A	GUncertain significance
Select item 1285129	NM_002860.4(ALDH18A1):c.809-1G>C	ALDH18A1	Single nucleotide variant (splice acceptor variant)	Hereditary spastic paraplegia 9A	GUncertain significance
Select item 1188865	NM_002860.4(ALDH18A1):c.88+126A>C	ALDH18A1	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 1135364	NM_002860.4(ALDH18A1):c.303+4_303+7dup	ALDH18A1	Duplication (intron variant +1 more)	Cutis laxa, autosomal dominant 3 +2 more	GLikely benign
Select item 1087767	NM_002860.4(ALDH18A1):c.1152+8_1152+9del	ALDH18A1	Deletion (intron variant)	Hereditary spastic paraplegia 9A +2 more	GLikely benign
Select item 989201	NM_002860.4(ALDH18A1):c.478G>T (p.Ala160Ser)	ALDH18A1 (A160S +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 9A	GPathogenic
Select item 956990	NM_002860.4(ALDH18A1):c.973G>T (p.Val325Phe)	ALDH18A1 (V113F +5 more)	Single nucleotide variant (missense variant)	de Barsy syndrome +2 more	GUncertain significance
Select item 879506	NM_002860.4(ALDH18A1):c.1740C>G (p.Ser580Arg)	ALDH18A1 (S469R +5 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 9A +5 more	GUncertain significance
Select item 872769	NM_002860.4(ALDH18A1):c.1393G>A (p.Glu465Lys)	ALDH18A1 (E430K +5 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 9A +5 more	GUncertain significance
Select item 862391	NM_002860.4(ALDH18A1):c.2140G>A (p.Val714Ile)	ALDH18A1 (V679I +5 more)	Single nucleotide variant (missense variant)	Cutis laxa, autosomal dominant 3 +3 more	GUncertain significance
Select item 799860	NM_002860.4(ALDH18A1):c.1473A>T (p.Ala491=)	ALDH18A1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 9A +2 more	GLikely benign
Select item 784845	NM_002860.4(ALDH18A1):c.306A>G (p.Val102=)	ALDH18A1	Single nucleotide variant (synonymous variant +2 more)	de Barsy syndrome +3 more	GLikely benign
Select item 779073	NM_002860.4(ALDH18A1):c.969T>A (p.Thr323=)	ALDH18A1	Single nucleotide variant (synonymous variant)	de Barsy syndrome +2 more	GLikely benign
Select item 743159	NM_002860.4(ALDH18A1):c.2217G>A (p.Val739=)	ALDH18A1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 9A +2 more	GLikely benign
Select item 706379	NM_002860.4(ALDH18A1):c.2335A>G (p.Ser779Gly)	ALDH18A1 (S668G +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 678446	NM_002860.4(ALDH18A1):c.2207-46G>A	ALDH18A1	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 678444	NM_002860.4(ALDH18A1):c.2110+24A>T	ALDH18A1	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 678443	NM_002860.4(ALDH18A1):c.1606-48T>G	ALDH18A1	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 665168	NM_002860.4(ALDH18A1):c.2383A>G (p.Asn795Asp)	ALDH18A1 (N795D +5 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 9A +2 more	GUncertain significance
Select item 660899	NM_002860.4(ALDH18A1):c.169C>A (p.His57Asn)	ALDH18A1 (H57N)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant spastic paraplegia type 9 +3 more	GUncertain significance
Select item 575749	NM_002860.4(ALDH18A1):c.1370G>A (p.Arg457His)	ALDH18A1 (R457H +5 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 517143	NM_002860.4(ALDH18A1):c.1201G>A (p.Asp401Asn)	ALDH18A1 (D401N +5 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 9A	GUncertain significance
Select item 464038	NM_002860.4(ALDH18A1):c.1264C>G (p.Leu422Val)	ALDH18A1 (L422V +5 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 441102	NM_002860.4(ALDH18A1):c.1942C>T (p.Pro648Ser)	ALDH18A1 (P648S +5 more)	Single nucleotide variant (missense variant)	de Barsy syndrome +2 more	GUncertain significance
Select item 424961	NM_002860.4(ALDH18A1):c.1867G>A (p.Asp623Asn)	ALDH18A1 (D623N +5 more)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 301770	NM_002860.4(ALDH18A1):c.1115C>A (p.Ser372Tyr)	ALDH18A1 (S372Y +5 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +8 more	GBenign
Select item 301767	NM_002860.4(ALDH18A1):c.1329C>T (p.Ile443=)	ALDH18A1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +7 more	GBenign/Likely benign
Select item 258827	NM_002860.4(ALDH18A1):c.896C>T (p.Thr299Ile)	ALDH18A1 (T299I +5 more)	Single nucleotide variant (missense variant)	Cutis laxa, autosomal dominant 3 +7 more	GBenign
Select item 258826	NM_002860.4(ALDH18A1):c.304-34A>G	ALDH18A1	Single nucleotide variant (intron variant)	ALDH18A1-related de Barsy syndrome +5 more	GBenign
Select item 258825	NM_002860.4(ALDH18A1):c.2206+15G>A	ALDH18A1	Single nucleotide variant (intron variant)	Cutis laxa, autosomal dominant 3 +7 more	GBenign
Select item 217259	NM_002860.4(ALDH18A1):c.412C>T (p.Arg138Trp)	ALDH18A1 (R138W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GPathogenic
Select item 217119	NM_002860.4(ALDH18A1):c.1994G>T (p.Arg665Leu)	ALDH18A1 (R665L +5 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 9A	GPathogenic
Select item 217118	NM_002860.4(ALDH18A1):c.359T>C (p.Val120Ala)	ALDH18A1 (V120A +1 more)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, autosomal dominant 3 +2 more	GPathogenic
Select item 217117	NM_002860.4(ALDH18A1):c.755G>A (p.Arg252Gln)	ALDH18A1 (R252Q +5 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 217116	NM_002860.4(ALDH18A1):c.727G>C (p.Val243Leu)	ALDH18A1 (V243L +5 more)	Single nucleotide variant (missense variant)	P5CS deficiency	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 MedGen

Items: 38