ClinVar for MedGen (Select 1720006) - ClinVar

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Items: 97

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065935	NM_002860.4(ALDH18A1):c.1467G>A (p.Gln489=)	ALDH18A1	Single nucleotide variant (synonymous variant)	ALDH18A1-related de Barsy syndrome	GUncertain significance
Select item 2920660	NM_002860.4(ALDH18A1):c.2344T>C (p.Tyr782His)	ALDH18A1 (Y570H +5 more)	Single nucleotide variant (missense variant)	ALDH18A1-related de Barsy syndrome	GLikely pathogenic
Select item 2627898	NM_002860.4(ALDH18A1):c.1802-4_1924-902delinsG	ALDH18A1, LOC121815958	Indel (splice acceptor variant +1 more)	ALDH18A1-related de Barsy syndrome	GPathogenic
Select item 1685516	NM_002860.4(ALDH18A1):c.401C>T (p.Ser134Phe)	ALDH18A1 (S134F +1 more)	Single nucleotide variant (missense variant +1 more)	ALDH18A1-related de Barsy syndrome	GPathogenic
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)	Cutis laxa, autosomal dominant 3 +2 more	GUncertain significance
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 879920	NM_002860.4(ALDH18A1):c.-140G>A	ALDH18A1	Single nucleotide variant (5 prime UTR variant)	ALDH18A1-related de Barsy syndrome	GUncertain significance
Select item 879819	NM_002860.4(ALDH18A1):c.*293G>A	ALDH18A1	Single nucleotide variant (3 prime UTR variant)	ALDH18A1-related de Barsy syndrome	GUncertain significance
Select item 879818	NM_002860.4(ALDH18A1):c.*611G>A	ALDH18A1	Single nucleotide variant (3 prime UTR variant)	ALDH18A1-related de Barsy syndrome	GBenign
Select item 879817	NM_002860.4(ALDH18A1):c.*644A>G	ALDH18A1	Single nucleotide variant (3 prime UTR variant)	ALDH18A1-related de Barsy syndrome	GUncertain significance
Select item 879553	NM_002860.4(ALDH18A1):c.-44G>A	ALDH18A1	Single nucleotide variant (5 prime UTR variant)	ALDH18A1-related de Barsy syndrome	GUncertain significance
Select item 879552	NM_002860.4(ALDH18A1):c.264T>C (p.Cys88=)	ALDH18A1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant spastic paraplegia type 9 +3 more	GConflicting classifications of pathogenicity
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 879505	NM_002860.4(ALDH18A1):c.1788G>T (p.Lys596Asn)	ALDH18A1 (K483N +5 more)	Single nucleotide variant (missense variant)	Autosomal dominant spastic paraplegia type 9 +3 more	GUncertain significance
Select item 878098	NM_002860.4(ALDH18A1):c.809-13G>A	ALDH18A1	Single nucleotide variant (intron variant)	ALDH18A1-related de Barsy syndrome	GUncertain significance
Select item 878097	NM_002860.4(ALDH18A1):c.809-3T>G	ALDH18A1	Single nucleotide variant (intron variant)	Autosomal dominant spastic paraplegia type 9 +5 more	GUncertain significance
Select item 878096	NM_002860.4(ALDH18A1):c.819C>T (p.Asp273=)	ALDH18A1	Single nucleotide variant (synonymous variant)	ALDH18A1-related de Barsy syndrome +3 more	GConflicting classifications of pathogenicity
Select item 878095	NM_002860.4(ALDH18A1):c.933+13T>C	ALDH18A1	Single nucleotide variant (intron variant)	Autosomal dominant spastic paraplegia type 9 +3 more	GConflicting classifications of pathogenicity
Select item 878042	NM_002860.4(ALDH18A1):c.2135A>G (p.Gln712Arg)	ALDH18A1 (Q677R +5 more)	Single nucleotide variant (missense variant)	ALDH18A1-related de Barsy syndrome +3 more	GUncertain significance
Select item 877932	NM_002860.4(ALDH18A1):c.973G>A (p.Val325Ile)	ALDH18A1 (V113I +5 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +6 more	GUncertain significance
Select item 877931	NM_002860.4(ALDH18A1):c.1169A>G (p.His390Arg)	ALDH18A1 (H279R +5 more)	Single nucleotide variant (missense variant)	ALDH18A1-related de Barsy syndrome	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 807367	NM_002860.4(ALDH18A1):c.2246G>A (p.Arg749Gln)	ALDH18A1 (R636Q +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 806553	NM_002860.4(ALDH18A1):c.1448G>A (p.Arg483His)	ALDH18A1 (R370H +5 more)	Single nucleotide variant (missense variant)	ALDH18A1-related de Barsy syndrome +5 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 706379	NM_002860.4(ALDH18A1):c.2335A>G (p.Ser779Gly)	ALDH18A1 (S668G +5 more)	Single nucleotide variant (missense variant)	de Barsy syndrome +5 more	GConflicting classifications of pathogenicity
Select item 681177	NM_002860.4(ALDH18A1):c.304-3C>T	ALDH18A1	Single nucleotide variant (intron variant)	Autosomal dominant spastic paraplegia type 9 +4 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 660899	NM_002860.4(ALDH18A1):c.169C>A (p.His57Asn)	ALDH18A1 (H57N)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, autosomal dominant 3 +3 more	GUncertain significance
Select item 659530	NM_002860.4(ALDH18A1):c.88+1G>A	ALDH18A1	Single nucleotide variant (splice donor variant)	ALDH18A1-related de Barsy syndrome +6 more	GLikely pathogenic
Select item 638645	NM_002860.4(ALDH18A1):c.1499G>T (p.Gly500Val)	ALDH18A1 (G500V +5 more)	Single nucleotide variant (missense variant)	ALDH18A1-related de Barsy syndrome	GPathogenic
Select item 633462	NM_002860.4(ALDH18A1):c.1273C>T (p.Arg425Cys)	ALDH18A1 (R425C +5 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 559864	NM_002860.4(ALDH18A1):c.177del (p.Lys59fs)	ALDH18A1 (K59fs)	Deletion (frameshift variant +1 more)	ALDH18A1-related de Barsy syndrome	GLikely pathogenic
Select item 532701	NM_002860.4(ALDH18A1):c.1604T>A (p.Leu535Gln)	ALDH18A1 (L535Q +5 more)	Single nucleotide variant (missense variant)	ALDH18A1-related de Barsy syndrome +3 more	GUncertain significance
Select item 514473	NM_002860.4(ALDH18A1):c.1467+15C>T	ALDH18A1	Single nucleotide variant (intron variant)	ALDH18A1-related de Barsy syndrome +4 more	GConflicting classifications of pathogenicity
Select item 511432	NM_002860.4(ALDH18A1):c.1368C>T (p.Arg456=)	ALDH18A1	Single nucleotide variant (synonymous variant)	ALDH18A1-related de Barsy syndrome +4 more	GConflicting classifications of pathogenicity
Select item 459841	NM_002860.4(ALDH18A1):c.741del (p.Asp247fs)	ALDH18A1 (D134fs +5 more)	Deletion (frameshift variant)	ALDH18A1-related de Barsy syndrome +3 more	GPathogenic
Select item 444231	NM_002860.4(ALDH18A1):c.1314C>T (p.Ile438=)	ALDH18A1	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity
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 430484	NM_002860.4(ALDH18A1):c.1315G>A (p.Gly439Ser)	ALDH18A1 (G439S +5 more)	Single nucleotide variant (missense variant)	Autosomal dominant spastic paraplegia type 9 +4 more	GUncertain significance
Select item 424961	NM_002860.4(ALDH18A1):c.1867G>A (p.Asp623Asn)	ALDH18A1 (D623N +5 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 9A +6 more	GUncertain significance
Select item 392692	NM_002860.4(ALDH18A1):c.2160C>T (p.Phe720=)	ALDH18A1	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 392663	NM_002860.4(ALDH18A1):c.991A>C (p.Thr331Pro)	ALDH18A1 (T331P +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GConflicting classifications of pathogenicity
Select item 391463	NM_002860.4(ALDH18A1):c.2232G>A (p.Ser744=)	ALDH18A1	Single nucleotide variant (synonymous variant)	ALDH18A1-related condition +6 more	GConflicting classifications of pathogenicity
Select item 387014	NM_002860.4(ALDH18A1):c.781C>A (p.Leu261Ile)	ALDH18A1 (L261I +5 more)	Single nucleotide variant (missense variant)	Cutis laxa, autosomal dominant 3 +4 more	GUncertain significance
Select item 382498	NM_002860.4(ALDH18A1):c.2345A>C (p.Tyr782Ser)	ALDH18A1 (Y782S +5 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 301782	NM_002860.4(ALDH18A1):c.-120A>G	ALDH18A1	Single nucleotide variant (5 prime UTR variant)	ALDH18A1-related de Barsy syndrome +1 more	GLikely benign
Select item 301781	NM_002860.4(ALDH18A1):c.-79A>G	ALDH18A1	Single nucleotide variant (5 prime UTR variant)	Hereditary spastic paraplegia +2 more	GBenign/Likely benign
Select item 301780	NM_002860.4(ALDH18A1):c.-67C>T	ALDH18A1	Single nucleotide variant (5 prime UTR variant)	ALDH18A1-related de Barsy syndrome	GUncertain significance
Select item 301778	NM_002860.4(ALDH18A1):c.-29+10G>A	ALDH18A1	Single nucleotide variant (5 prime UTR variant +1 more)	ALDH18A1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 301777	NM_002860.4(ALDH18A1):c.-5G>A	ALDH18A1	Single nucleotide variant (5 prime UTR variant)	ALDH18A1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 301775	NM_002860.4(ALDH18A1):c.492C>T (p.Ala164=)	ALDH18A1	Single nucleotide variant (synonymous variant +1 more)	ALDH18A1-related condition +6 more	GConflicting classifications of pathogenicity
Select item 301774	NM_002860.4(ALDH18A1):c.842C>T (p.Ala281Val)	ALDH18A1 (A281V +5 more)	Single nucleotide variant (missense variant)	ALDH18A1-related de Barsy syndrome	GUncertain significance
Select item 301773	NM_002860.4(ALDH18A1):c.933+14G>A	ALDH18A1	Single nucleotide variant (intron variant)	ALDH18A1-related de Barsy syndrome +3 more	GConflicting classifications of pathogenicity
Select item 301772	NM_002860.4(ALDH18A1):c.934-7T>A	ALDH18A1	Single nucleotide variant (intron variant)	ALDH18A1-related de Barsy syndrome +3 more	GConflicting classifications of pathogenicity
Select item 301771	NM_002860.4(ALDH18A1):c.1083T>C (p.Pro361=)	ALDH18A1	Single nucleotide variant (synonymous variant)	ALDH18A1-related de Barsy syndrome	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 +7 more	GBenign
Select item 301769	NM_002860.4(ALDH18A1):c.1153-13A>G	ALDH18A1	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 301768	NM_002860.4(ALDH18A1):c.1308G>A (p.Leu436=)	ALDH18A1	Single nucleotide variant (synonymous variant)	ALDH18A1-related condition +6 more	GConflicting classifications of pathogenicity
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 301766	NM_002860.4(ALDH18A1):c.1385A>G (p.Lys462Arg)	ALDH18A1 (K462R +5 more)	Single nucleotide variant (missense variant)	ALDH18A1-related de Barsy syndrome +3 more	GUncertain significance
Select item 301765	NM_002860.4(ALDH18A1):c.1596C>T (p.Ala532=)	ALDH18A1	Single nucleotide variant (synonymous variant)	ALDH18A1-related de Barsy syndrome +4 more	GConflicting classifications of pathogenicity
Select item 301764	NM_002860.4(ALDH18A1):c.1605+5G>A	ALDH18A1	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 301763	NM_002860.4(ALDH18A1):c.1740C>T (p.Ser580=)	ALDH18A1	Single nucleotide variant (synonymous variant)	ALDH18A1-related de Barsy syndrome +3 more	GConflicting classifications of pathogenicity
Select item 301762	NM_002860.4(ALDH18A1):c.1770C>T (p.Ser590=)	ALDH18A1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +5 more	GBenign
Select item 301761	NM_002860.4(ALDH18A1):c.1977C>T (p.Ser659=)	ALDH18A1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +5 more	GBenign
Select item 301760	NM_002860.4(ALDH18A1):c.2001G>A (p.Glu667=)	ALDH18A1	Single nucleotide variant (synonymous variant)	ALDH18A1-related de Barsy syndrome +4 more	GBenign
Select item 301759	NM_002860.4(ALDH18A1):c.2098G>A (p.Val700Ile)	ALDH18A1 (V700I +5 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 301758	NM_002860.4(ALDH18A1):c.2110+13A>G	ALDH18A1	Single nucleotide variant (intron variant)	ALDH18A1-related de Barsy syndrome +4 more	GConflicting classifications of pathogenicity
Select item 301757	NM_002860.4(ALDH18A1):c.2194C>T (p.Arg732Cys)	ALDH18A1 (R732C +5 more)	Single nucleotide variant (missense variant)	Autosomal dominant spastic paraplegia type 9 +4 more	GUncertain significance
Select item 301756	NM_002860.4(ALDH18A1):c.2207-3C>T	ALDH18A1	Single nucleotide variant (intron variant)	ALDH18A1-related condition +7 more	GBenign/Likely benign
Select item 301755	NM_002860.4(ALDH18A1):c.*56T>A	ALDH18A1	Single nucleotide variant (3 prime UTR variant)	ALDH18A1-related de Barsy syndrome +1 more	GBenign/Likely benign
Select item 301754	NM_002860.4(ALDH18A1):c.*140C>T	ALDH18A1	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 301753	NM_002860.4(ALDH18A1):c.*155G>A	ALDH18A1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 301752	NM_002860.4(ALDH18A1):c.*202T>C	ALDH18A1	Single nucleotide variant (3 prime UTR variant)	ALDH18A1-related de Barsy syndrome	GUncertain significance
Select item 301751	NM_002860.4(ALDH18A1):c.*227A>G	ALDH18A1	Single nucleotide variant (3 prime UTR variant)	ALDH18A1-related de Barsy syndrome	GBenign
Select item 301750	NM_002860.4(ALDH18A1):c.*292C>T	ALDH18A1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 301749	NM_002860.4(ALDH18A1):c.*412T>C	ALDH18A1	Single nucleotide variant (3 prime UTR variant)	ALDH18A1-related de Barsy syndrome	GBenign
Select item 301748	NM_002860.4(ALDH18A1):c.*466T>G	ALDH18A1	Single nucleotide variant (3 prime UTR variant)	ALDH18A1-related de Barsy syndrome	GUncertain significance
Select item 301747	NM_002860.4(ALDH18A1):c.*698G>A	ALDH18A1	Single nucleotide variant (3 prime UTR variant)	ALDH18A1-related de Barsy syndrome	GUncertain significance
Select item 301746	NM_002860.4(ALDH18A1):c.*699C>T	ALDH18A1	Single nucleotide variant (3 prime UTR variant)	ALDH18A1-related de Barsy syndrome	GBenign
Select item 301745	NM_002860.4(ALDH18A1):c.*734C>A	ALDH18A1	Single nucleotide variant (3 prime UTR variant)	ALDH18A1-related de Barsy syndrome	GLikely benign
Select item 258827	NM_002860.4(ALDH18A1):c.896C>T (p.Thr299Ile)	ALDH18A1 (T299I +5 more)	Single nucleotide variant (missense variant)	de Barsy syndrome +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)	de Barsy syndrome +6 more	GBenign
Select item 258823	NM_002860.4(ALDH18A1):c.1029T>C (p.Ile343=)	ALDH18A1	Single nucleotide variant (synonymous variant)	de Barsy syndrome +5 more	GBenign
Select item 217273	NM_002860.4(ALDH18A1):c.2345A>G (p.Tyr782Cys)	ALDH18A1 (Y780C +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 217261	NM_002860.4(ALDH18A1):c.413G>T (p.Arg138Leu)	ALDH18A1 (R138L +1 more)	Single nucleotide variant (missense variant +1 more)	ALDH18A1-related de Barsy syndrome	GPathogenic
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 216888	NM_002860.4(ALDH18A1):c.2294G>A (p.Arg765Gln)	ALDH18A1 (R765Q +5 more)	Single nucleotide variant (missense variant)	Cutis laxa, autosomal dominant 3 +4 more	GConflicting classifications of pathogenicity
Select item 156546	NM_002860.4(ALDH18A1):c.2131del (p.Leu711fs)	ALDH18A1 (L676fs +5 more)	Deletion (frameshift variant)	ALDH18A1-related de Barsy syndrome	GPathogenic
Select item 29727	NM_002860.4(ALDH18A1):c.1923+1G>A	ALDH18A1	Single nucleotide variant (splice donor variant)	ALDH18A1-related de Barsy syndrome	GPathogenic
Select item 16086	NM_002860.4(ALDH18A1):c.2350C>T (p.His784Tyr)	ALDH18A1 (H784Y +5 more)	Single nucleotide variant (missense variant)	ALDH18A1-related de Barsy syndrome	GPathogenic
Select item 16085	NM_002860.4(ALDH18A1):c.251G>A (p.Arg84Gln)	ALDH18A1 (R84Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity

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Items: 97