ClinVar for MedGen (Select 1800403) - ClinVar

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Items: 30

	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 2442115	NM_002860.4(ALDH18A1):c.1691T>C (p.Val564Ala)	ALDH18A1 (V352A +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive complex spastic paraplegia type 9B +3 more	GUncertain significance
Select item 1878569	NM_002860.4(ALDH18A1):c.1931T>A (p.Ile644Asn)	ALDH18A1 (I432N +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive complex spastic paraplegia type 9B	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 1523847	NM_002860.4(ALDH18A1):c.1078+5A>G	ALDH18A1	Single nucleotide variant (intron variant)	Autosomal dominant spastic paraplegia type 9 +2 more	GUncertain significance
Select item 1333680	NM_002860.4(ALDH18A1):c.1481C>T (p.Ala494Val)	ALDH18A1 (A282V +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive complex spastic paraplegia type 9B	GLikely pathogenic
Select item 1333373	NM_002860.4(ALDH18A1):c.1596_1600del (p.Val533fs)	ALDH18A1 (V321fs +5 more)	Deletion (frameshift variant)	Autosomal recessive complex spastic paraplegia type 9B	GLikely pathogenic
Select item 1299693	NM_002860.4(ALDH18A1):c.1926A>G (p.Val642=)	ALDH18A1	Single nucleotide variant (synonymous variant)	Autosomal recessive complex spastic paraplegia type 9B	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 1029647	NM_002860.4(ALDH18A1):c.1078+6T>C	ALDH18A1	Single nucleotide variant (intron variant)	not provided +4 more	GUncertain significance
Select item 1013572	NM_002860.4(ALDH18A1):c.743G>A (p.Ser248Asn)	ALDH18A1 (S135N +5 more)	Single nucleotide variant (missense variant)	not provided +3 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 689652	NM_002860.4(ALDH18A1):c.2177G>A (p.Arg726His)	ALDH18A1 (R514H +5 more)	Single nucleotide variant (missense variant)	Cutis laxa, autosomal dominant 3 +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 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 623751	NM_002860.4(ALDH18A1):c.1351G>A (p.Val451Met)	ALDH18A1 (V451M +5 more)	Single nucleotide variant (missense variant)	Cutis laxa, autosomal dominant 3 +4 more	GUncertain significance
Select item 441102	NM_002860.4(ALDH18A1):c.1942C>T (p.Pro648Ser)	ALDH18A1 (P648S +5 more)	Single nucleotide variant (missense variant)	Autosomal dominant spastic paraplegia type 9 +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 392663	NM_002860.4(ALDH18A1):c.991A>C (p.Thr331Pro)	ALDH18A1 (T331P +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive complex spastic paraplegia type 9B +6 more	GConflicting classifications of pathogenicity
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)	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)	not specified +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)	not specified +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 217121	NM_002860.4(ALDH18A1):c.383G>A (p.Arg128His)	ALDH18A1 (R128H +1 more)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, autosomal dominant 3 +3 more	GConflicting classifications of pathogenicity
Select item 217120	NM_002860.4(ALDH18A1):c.1910T>C (p.Leu637Pro)	ALDH18A1 (L637P +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive complex spastic paraplegia type 9B	GPathogenic
Select item 217115	NM_002860.4(ALDH18A1):c.2143G>C (p.Asp715His)	ALDH18A1 (D715H +5 more)	Single nucleotide variant (missense variant)	Cutis laxa, autosomal dominant 3 +2 more	GLikely pathogenic

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Items: 30