ClinVar for MedGen (Select 1800401) - ClinVar

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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)	ALDH18A1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1188865	NM_002860.4(ALDH18A1):c.88+126A>C	ALDH18A1	Single nucleotide variant (intron variant)	Autosomal recessive complex spastic paraplegia type 9B +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)	Cutis laxa, autosomal dominant 3 +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)	not provided +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)	not provided +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)	Inborn genetic diseases +3 more	GUncertain significance
Select item 799860	NM_002860.4(ALDH18A1):c.1473A>T (p.Ala491=)	ALDH18A1	Single nucleotide variant (synonymous variant)	ALDH18A1-related de Barsy syndrome +2 more	GLikely benign
Select item 784845	NM_002860.4(ALDH18A1):c.306A>G (p.Val102=)	ALDH18A1	Single nucleotide variant (synonymous variant +2 more)	Cutis laxa, autosomal dominant 3 +3 more	GLikely benign
Select item 779073	NM_002860.4(ALDH18A1):c.969T>A (p.Thr323=)	ALDH18A1	Single nucleotide variant (synonymous variant)	Cutis laxa, autosomal dominant 3 +2 more	GLikely benign
Select item 743159	NM_002860.4(ALDH18A1):c.2217G>A (p.Val739=)	ALDH18A1	Single nucleotide variant (synonymous variant)	de Barsy syndrome +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)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 678446	NM_002860.4(ALDH18A1):c.2207-46G>A	ALDH18A1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 9A +4 more	GBenign
Select item 678444	NM_002860.4(ALDH18A1):c.2110+24A>T	ALDH18A1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 9A +4 more	GBenign
Select item 678443	NM_002860.4(ALDH18A1):c.1606-48T>G	ALDH18A1	Single nucleotide variant (intron variant)	Autosomal recessive complex spastic paraplegia type 9B +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)	not provided +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)	Cutis laxa, autosomal dominant 3 +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)	Cutis laxa, autosomal dominant 3 +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)	Autosomal dominant spastic paraplegia type 9 +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)	not specified +7 more	GBenign
Select item 301767	NM_002860.4(ALDH18A1):c.1329C>T (p.Ile443=)	ALDH18A1	Single nucleotide variant (synonymous variant)	not provided +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)	Autosomal recessive complex spastic paraplegia type 9B +6 more	GBenign
Select item 258826	NM_002860.4(ALDH18A1):c.304-34A>G	ALDH18A1	Single nucleotide variant (intron variant)	Cutis laxa, autosomal dominant 3 +5 more	GBenign
Select item 258825	NM_002860.4(ALDH18A1):c.2206+15G>A	ALDH18A1	Single nucleotide variant (intron variant)	Autosomal recessive complex spastic paraplegia type 9B +6 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)	ALDH18A1 deficiency +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

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Items: 38