ClinVar for MedGen (Select 899774) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244835	NC_000010.10:g.(?_97402729)_(97413134_?)dup	ALDH18A1	Duplication	Cutis laxa, autosomal dominant 3 +2 more	GUncertain significance
Select item 3244834	NC_000010.10:g.(?_97366519)_(97366720_?)dup	ALDH18A1	Duplication	Cutis laxa, autosomal dominant 3 +2 more	GUncertain significance
Select item 3244833	NC_000010.10:g.(?_97366519)_(97626140_?)del	ALDH18A1, ENTPD1 +1 more	Deletion	Cutis laxa, autosomal dominant 3 +2 more	GPathogenic
Select item 2954286	NM_002860.4(ALDH18A1):c.2207-7_2207-6inv	ALDH18A1	Inversion (intron variant)	de Barsy syndrome +2 more	GUncertain significance
Select item 2954014	NM_002860.4(ALDH18A1):c.555C>G (p.Ala185=)	ALDH18A1	Single nucleotide variant (synonymous variant +1 more)	de Barsy syndrome +2 more	GLikely benign
Select item 2953894	NM_002860.4(ALDH18A1):c.1112G>T (p.Arg371Leu)	ALDH18A1 (R260L +5 more)	Single nucleotide variant (missense variant)	de Barsy syndrome +2 more	GUncertain significance
Select item 2953845	NM_002860.4(ALDH18A1):c.1126A>T (p.Met376Leu)	ALDH18A1 (M263L +5 more)	Single nucleotide variant (missense variant)	de Barsy syndrome +2 more	GUncertain significance
Select item 2953764	NM_002860.4(ALDH18A1):c.2148T>C (p.Ser716=)	ALDH18A1	Single nucleotide variant (synonymous variant)	de Barsy syndrome +2 more	GLikely benign
Select item 2953290	NM_002860.4(ALDH18A1):c.2277T>C (p.Thr759=)	ALDH18A1	Single nucleotide variant (synonymous variant)	Cutis laxa, autosomal dominant 3 +2 more	GLikely benign
Select item 2951854	NM_002860.4(ALDH18A1):c.717+13T>C	ALDH18A1	Single nucleotide variant (intron variant)	Cutis laxa, autosomal dominant 3 +2 more	GLikely benign
Select item 2951281	NM_002860.4(ALDH18A1):c.1703A>T (p.Gln568Leu)	ALDH18A1 (Q455L +5 more)	Single nucleotide variant (missense variant)	Cutis laxa, autosomal dominant 3 +2 more	GUncertain significance
Select item 2950800	NM_002860.4(ALDH18A1):c.1713dup (p.Lys572Ter)	ALDH18A1 (K459* +5 more)	Duplication (nonsense)	Cutis laxa, autosomal dominant 3 +2 more	GPathogenic
Select item 2950474	NM_002860.4(ALDH18A1):c.255G>T (p.Gly85=)	ALDH18A1	Single nucleotide variant (synonymous variant +1 more)	Cutis laxa, autosomal dominant 3 +2 more	GUncertain significance
Select item 2950292	NM_002860.4(ALDH18A1):c.1802-20C>G	ALDH18A1	Single nucleotide variant (intron variant)	Cutis laxa, autosomal dominant 3 +2 more	GLikely benign
Select item 2949341	NM_002860.4(ALDH18A1):c.1804del (p.Arg602fs)	ALDH18A1 (R491fs +5 more)	Deletion (frameshift variant)	Cutis laxa, autosomal dominant 3 +2 more	GPathogenic
Select item 2949317	NM_002860.4(ALDH18A1):c.1005G>A (p.Val335=)	ALDH18A1	Single nucleotide variant (synonymous variant)	Cutis laxa, autosomal dominant 3 +2 more	GLikely benign
Select item 2949228	NM_002860.4(ALDH18A1):c.100C>G (p.Pro34Ala)	ALDH18A1 (P34A)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, autosomal dominant 3 +2 more	GUncertain significance
Select item 2948821	NM_002860.4(ALDH18A1):c.1371C>T (p.Arg457=)	ALDH18A1	Single nucleotide variant (synonymous variant)	Cutis laxa, autosomal dominant 3 +2 more	GLikely benign
Select item 2948261	NM_002860.4(ALDH18A1):c.687T>C (p.Ala229=)	ALDH18A1	Single nucleotide variant (synonymous variant)	Cutis laxa, autosomal dominant 3 +2 more	GLikely benign
Select item 2948012	NM_002860.4(ALDH18A1):c.155C>T (p.Pro52Leu)	ALDH18A1 (P52L)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, autosomal dominant 3 +2 more	GUncertain significance
Select item 2947845	NM_002860.4(ALDH18A1):c.836A>G (p.Asp279Gly)	ALDH18A1 (D166G +5 more)	Single nucleotide variant (missense variant)	Cutis laxa, autosomal dominant 3 +2 more	GUncertain significance
Select item 2947334	NM_002860.4(ALDH18A1):c.1605+16T>C	ALDH18A1	Single nucleotide variant (intron variant)	Cutis laxa, autosomal dominant 3 +2 more	GLikely benign
Select item 2947006	NM_002860.4(ALDH18A1):c.782T>C (p.Leu261Pro)	ALDH18A1 (L148P +5 more)	Single nucleotide variant (missense variant)	Cutis laxa, autosomal dominant 3 +2 more	GUncertain significance
Select item 2946460	NM_002860.4(ALDH18A1):c.2032G>A (p.Val678Met)	ALDH18A1 (V643M +5 more)	Single nucleotide variant (missense variant)	Cutis laxa, autosomal dominant 3 +2 more	GUncertain significance
Select item 2945927	NM_002860.4(ALDH18A1):c.933+19_933+20insAAGAATCTGGTGCCTTACACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAAGATNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	ALDH18A1	Insertion (intron variant)	Cutis laxa, autosomal dominant 3 +2 more	GUncertain significance
Select item 2945754	NM_002860.4(ALDH18A1):c.1144C>T (p.Pro382Ser)	ALDH18A1 (P269S +5 more)	Single nucleotide variant (missense variant)	Cutis laxa, autosomal dominant 3 +2 more	GUncertain significance
Select item 2945720	NM_002860.4(ALDH18A1):c.2064C>T (p.Ile688=)	ALDH18A1	Single nucleotide variant (synonymous variant)	Cutis laxa, autosomal dominant 3 +2 more	GLikely benign
Select item 2945235	NM_002860.4(ALDH18A1):c.1737C>T (p.His579=)	ALDH18A1	Single nucleotide variant (synonymous variant)	Autosomal dominant spastic paraplegia type 9 +2 more	GLikely benign
Select item 2945204	NM_002860.4(ALDH18A1):c.1956C>T (p.Ser652=)	ALDH18A1	Single nucleotide variant (synonymous variant)	Autosomal dominant spastic paraplegia type 9 +2 more	GUncertain significance
Select item 2944897	NM_002860.4(ALDH18A1):c.1802-21_1802-17del	ALDH18A1	Deletion (intron variant)	Autosomal dominant spastic paraplegia type 9 +2 more	GUncertain significance
Select item 2944321	NM_002860.4(ALDH18A1):c.299A>C (p.Glu100Ala)	ALDH18A1 (E100A)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant spastic paraplegia type 9 +2 more	GUncertain significance
Select item 2944221	NM_002860.4(ALDH18A1):c.565G>C (p.Val189Leu)	ALDH18A1 (V154L +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant spastic paraplegia type 9 +2 more	GUncertain significance
Select item 2943924	NM_002860.4(ALDH18A1):c.157C>G (p.Leu53Val)	ALDH18A1 (L53V)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant spastic paraplegia type 9 +2 more	GUncertain significance
Select item 2943587	NM_002860.4(ALDH18A1):c.1576A>G (p.Ile526Val)	ALDH18A1 (I415V +5 more)	Single nucleotide variant (missense variant)	Cutis laxa, autosomal dominant 3 +2 more	GLikely benign
Select item 2942138	NM_002860.4(ALDH18A1):c.223G>T (p.Val75Leu)	ALDH18A1 (V75L)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, autosomal dominant 3 +2 more	GUncertain significance
Select item 2941990	NM_002860.4(ALDH18A1):c.1514G>A (p.Gly505Glu)	ALDH18A1 (G503E +5 more)	Single nucleotide variant (missense variant)	Cutis laxa, autosomal dominant 3 +2 more	GUncertain significance
Select item 2941554	NM_002860.4(ALDH18A1):c.1247-16C>G	ALDH18A1	Single nucleotide variant (intron variant)	Cutis laxa, autosomal dominant 3 +2 more	GLikely benign
Select item 2941520	NM_002860.4(ALDH18A1):c.1784A>T (p.Asp595Val)	ALDH18A1 (D383V +5 more)	Single nucleotide variant (missense variant)	Cutis laxa, autosomal dominant 3 +2 more	GUncertain significance
Select item 2941217	NM_002860.4(ALDH18A1):c.1048G>T (p.Gly350Cys)	ALDH18A1 (G348C +5 more)	Single nucleotide variant (missense variant)	Cutis laxa, autosomal dominant 3 +2 more	GUncertain significance
Select item 2940959	NM_002860.4(ALDH18A1):c.339del (p.Met113fs)	ALDH18A1 (M2fs +1 more)	Deletion (frameshift variant +1 more)	Cutis laxa, autosomal dominant 3 +2 more	GPathogenic
Select item 2940833	NM_002860.4(ALDH18A1):c.2230T>A (p.Ser744Thr)	ALDH18A1 (S532T +5 more)	Single nucleotide variant (missense variant)	Cutis laxa, autosomal dominant 3 +2 more	GUncertain significance
Select item 2940641	NM_002860.4(ALDH18A1):c.1468-2A>C	ALDH18A1	Single nucleotide variant (splice acceptor variant)	Cutis laxa, autosomal dominant 3 +2 more	GLikely pathogenic
Select item 2940578	NM_002860.4(ALDH18A1):c.781C>G (p.Leu261Val)	ALDH18A1 (L49V +5 more)	Single nucleotide variant (missense variant)	Cutis laxa, autosomal dominant 3 +2 more	GUncertain significance
Select item 2940371	NM_002860.4(ALDH18A1):c.1864C>G (p.Arg622Gly)	ALDH18A1 (R410G +5 more)	Single nucleotide variant (missense variant)	Cutis laxa, autosomal dominant 3 +2 more	GUncertain significance
Select item 2940064	NM_002860.4(ALDH18A1):c.1492G>A (p.Gly498Ser)	ALDH18A1 (G385S +5 more)	Single nucleotide variant (missense variant)	Cutis laxa, autosomal dominant 3 +2 more	GUncertain significance
Select item 2939892	NM_002860.4(ALDH18A1):c.1227dup (p.Asp410fs)	ALDH18A1 (D198fs +5 more)	Duplication (frameshift variant)	Cutis laxa, autosomal dominant 3 +2 more	GPathogenic
Select item 2939751	NM_002860.4(ALDH18A1):c.1567G>C (p.Ala523Pro)	ALDH18A1 (A488P +5 more)	Single nucleotide variant (missense variant)	Cutis laxa, autosomal dominant 3 +2 more	GUncertain significance
Select item 2939691	NM_002860.4(ALDH18A1):c.1606-7T>C	ALDH18A1	Single nucleotide variant (intron variant)	Cutis laxa, autosomal dominant 3 +2 more	GLikely benign
Select item 2939682	NM_002860.4(ALDH18A1):c.1517G>T (p.Gly506Val)	ALDH18A1 (G395V +5 more)	Single nucleotide variant (missense variant)	Cutis laxa, autosomal dominant 3 +2 more	GUncertain significance
Select item 2938820	NM_002860.4(ALDH18A1):c.1290A>C (p.Thr430=)	ALDH18A1	Single nucleotide variant (synonymous variant)	Cutis laxa, autosomal dominant 3 +2 more	GLikely benign
Select item 2938759	NM_002860.4(ALDH18A1):c.1653G>T (p.Met551Ile)	ALDH18A1 (M438I +5 more)	Single nucleotide variant (missense variant)	Cutis laxa, autosomal dominant 3 +2 more	GUncertain significance
Select item 2938559	NM_002860.4(ALDH18A1):c.1474G>C (p.Ala492Pro)	ALDH18A1 (A381P +5 more)	Single nucleotide variant (missense variant)	Cutis laxa, autosomal dominant 3 +2 more	GUncertain significance
Select item 2938547	NM_002860.4(ALDH18A1):c.695A>G (p.Asn232Ser)	ALDH18A1 (N232S +3 more)	Single nucleotide variant (missense variant)	Cutis laxa, autosomal dominant 3 +2 more	GUncertain significance
Select item 2937025	NM_002860.4(ALDH18A1):c.1180G>A (p.Asp394Asn)	ALDH18A1 (D281N +5 more)	Single nucleotide variant (missense variant)	Cutis laxa, autosomal dominant 3 +2 more	GUncertain significance
Select item 2936827	NM_002860.4(ALDH18A1):c.2085C>T (p.His695=)	ALDH18A1	Single nucleotide variant (synonymous variant)	Cutis laxa, autosomal dominant 3 +2 more	GLikely benign
Select item 2936754	NM_002860.4(ALDH18A1):c.279G>A (p.Gly93=)	ALDH18A1	Single nucleotide variant (synonymous variant +1 more)	Cutis laxa, autosomal dominant 3 +2 more	GLikely benign
Select item 2936137	NM_002860.4(ALDH18A1):c.1112G>C (p.Arg371Pro)	ALDH18A1 (R369P +5 more)	Single nucleotide variant (missense variant)	Cutis laxa, autosomal dominant 3 +2 more	GUncertain significance
Select item 2935952	NM_002860.4(ALDH18A1):c.20G>A (p.Arg7His)	ALDH18A1 (R7H)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, autosomal dominant 3 +2 more	GUncertain significance
Select item 2935644	NM_002860.4(ALDH18A1):c.475C>A (p.Arg159=)	ALDH18A1	Single nucleotide variant (synonymous variant +1 more)	Cutis laxa, autosomal dominant 3 +2 more	GLikely benign
Select item 2934154	NM_002860.4(ALDH18A1):c.1447C>T (p.Arg483Cys)	ALDH18A1 (R448C +5 more)	Single nucleotide variant (missense variant)	Cutis laxa, autosomal dominant 3 +2 more	GUncertain significance
Select item 2933859	NM_002860.4(ALDH18A1):c.601C>T (p.Arg201Trp)	ALDH18A1 (R166W +2 more)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, autosomal dominant 3 +2 more	GUncertain significance
Select item 2933733	NM_002860.4(ALDH18A1):c.1506A>G (p.Leu502=)	ALDH18A1	Single nucleotide variant (synonymous variant)	Cutis laxa, autosomal dominant 3 +2 more	GLikely benign
Select item 2933208	NM_002860.4(ALDH18A1):c.1151A>G (p.Gln384Arg)	ALDH18A1 (Q349R +5 more)	Single nucleotide variant (missense variant)	Cutis laxa, autosomal dominant 3 +2 more	GUncertain significance
Select item 2933171	NM_002860.4(ALDH18A1):c.1104A>G (p.Glu368=)	ALDH18A1	Single nucleotide variant (synonymous variant)	Cutis laxa, autosomal dominant 3 +2 more	GLikely benign
Select item 2933105	NM_002860.4(ALDH18A1):c.1551C>T (p.His517=)	ALDH18A1	Single nucleotide variant (synonymous variant)	Cutis laxa, autosomal dominant 3 +2 more	GLikely benign
Select item 2932585	NM_002860.4(ALDH18A1):c.34C>G (p.Pro12Ala)	ALDH18A1 (P12A)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, autosomal dominant 3 +2 more	GUncertain significance
Select item 2932495	NM_002860.4(ALDH18A1):c.293T>C (p.Ile98Thr)	ALDH18A1 (I98T)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, autosomal dominant 3 +2 more	GUncertain significance
Select item 2932406	NM_002860.4(ALDH18A1):c.163C>T (p.Arg55Cys)	ALDH18A1 (R55C)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, autosomal dominant 3 +2 more	GUncertain significance
Select item 2932025	NM_002860.4(ALDH18A1):c.1801+10A>G	ALDH18A1	Single nucleotide variant (intron variant)	Cutis laxa, autosomal dominant 3 +2 more	GLikely benign
Select item 2931688	NM_002860.4(ALDH18A1):c.88+13G>C	ALDH18A1	Single nucleotide variant (intron variant)	Cutis laxa, autosomal dominant 3 +2 more	GLikely benign
Select item 2931307	NM_002860.4(ALDH18A1):c.1001A>G (p.Lys334Arg)	ALDH18A1 (K221R +5 more)	Single nucleotide variant (missense variant)	de Barsy syndrome +2 more	GUncertain significance
Select item 2930910	NM_002860.4(ALDH18A1):c.2007G>A (p.Gly669=)	ALDH18A1	Single nucleotide variant (synonymous variant)	de Barsy syndrome +2 more	GLikely benign
Select item 2930570	NM_002860.4(ALDH18A1):c.1795del (p.Arg599fs)	ALDH18A1 (R486fs +5 more)	Deletion (frameshift variant)	de Barsy syndrome +2 more	GPathogenic
Select item 2929867	NM_002860.4(ALDH18A1):c.1958A>C (p.Tyr653Ser)	ALDH18A1 (Y441S +5 more)	Single nucleotide variant (missense variant)	de Barsy syndrome +2 more	GUncertain significance
Select item 2929596	NM_002860.4(ALDH18A1):c.1153-8_1153-5del	ALDH18A1	Deletion (intron variant)	Cutis laxa, autosomal dominant 3 +2 more	GLikely benign
Select item 2929153	NM_002860.4(ALDH18A1):c.839A>G (p.Asp280Gly)	ALDH18A1 (D278G +5 more)	Single nucleotide variant (missense variant)	Cutis laxa, autosomal dominant 3 +2 more	GUncertain significance
Select item 2928718	NM_002860.4(ALDH18A1):c.1802-20C>A	ALDH18A1	Single nucleotide variant (intron variant)	Cutis laxa, autosomal dominant 3 +2 more	GLikely benign
Select item 2928463	NM_002860.4(ALDH18A1):c.808+3A>G	ALDH18A1	Single nucleotide variant (intron variant)	Cutis laxa, autosomal dominant 3 +2 more	GUncertain significance
Select item 2928218	NM_002860.4(ALDH18A1):c.2078G>C (p.Ser693Thr)	ALDH18A1 (S582T +5 more)	Single nucleotide variant (missense variant)	Cutis laxa, autosomal dominant 3 +2 more	GUncertain significance
Select item 2928043	NM_002860.4(ALDH18A1):c.1780G>A (p.Val594Ile)	ALDH18A1 (V481I +5 more)	Single nucleotide variant (missense variant)	Cutis laxa, autosomal dominant 3 +2 more	GUncertain significance
Select item 2927718	NM_002860.4(ALDH18A1):c.1150C>G (p.Gln384Glu)	ALDH18A1 (Q273E +5 more)	Single nucleotide variant (missense variant)	Cutis laxa, autosomal dominant 3 +2 more	GUncertain significance
Select item 2926360	NM_002860.4(ALDH18A1):c.1275T>C (p.Arg425=)	ALDH18A1	Single nucleotide variant (synonymous variant)	Cutis laxa, autosomal dominant 3 +2 more	GLikely benign
Select item 2925779	NM_002860.4(ALDH18A1):c.2067C>G (p.His689Gln)	ALDH18A1 (H687Q +5 more)	Single nucleotide variant (missense variant)	Cutis laxa, autosomal dominant 3 +2 more	GUncertain significance
Select item 2924391	NM_002860.4(ALDH18A1):c.303+15A>G	ALDH18A1	Single nucleotide variant (intron variant)	Cutis laxa, autosomal dominant 3 +2 more	GLikely benign
Select item 2924294	NM_002860.4(ALDH18A1):c.1321C>T (p.Arg441Ter)	ALDH18A1 (R328* +5 more)	Single nucleotide variant (nonsense)	Cutis laxa, autosomal dominant 3 +2 more	GPathogenic
Select item 2924147	NM_002860.4(ALDH18A1):c.1079-11T>C	ALDH18A1	Single nucleotide variant (intron variant)	Cutis laxa, autosomal dominant 3 +2 more	GLikely benign
Select item 2923961	NM_002860.4(ALDH18A1):c.1729A>G (p.Met577Val)	ALDH18A1 (M365V +5 more)	Single nucleotide variant (missense variant)	Cutis laxa, autosomal dominant 3 +2 more	GUncertain significance
Select item 2923871	NM_002860.4(ALDH18A1):c.2279C>T (p.Thr760Ile)	ALDH18A1 (T548I +5 more)	Single nucleotide variant (missense variant)	Cutis laxa, autosomal dominant 3 +2 more	GUncertain significance
Select item 2923735	NM_002860.4(ALDH18A1):c.945C>A (p.Ala315=)	ALDH18A1	Single nucleotide variant (synonymous variant)	Cutis laxa, autosomal dominant 3 +2 more	GLikely benign
Select item 2923686	NM_002860.4(ALDH18A1):c.2111-12_2111-10del	ALDH18A1	Microsatellite (intron variant)	Cutis laxa, autosomal dominant 3 +2 more	GLikely benign
Select item 2923201	NM_002860.4(ALDH18A1):c.1330G>A (p.Ala444Thr)	ALDH18A1 (A333T +5 more)	Single nucleotide variant (missense variant)	Cutis laxa, autosomal dominant 3 +2 more	GUncertain significance
Select item 2923153	NM_002860.4(ALDH18A1):c.1047T>G (p.Val349=)	ALDH18A1	Single nucleotide variant (synonymous variant)	Cutis laxa, autosomal dominant 3 +2 more	GLikely benign
Select item 2923095	NM_002860.4(ALDH18A1):c.1246+15A>G	ALDH18A1	Single nucleotide variant (intron variant)	Cutis laxa, autosomal dominant 3 +2 more	GLikely benign
Select item 2922800	NM_002860.4(ALDH18A1):c.1549C>T (p.His517Tyr)	ALDH18A1 (H305Y +5 more)	Single nucleotide variant (missense variant)	Cutis laxa, autosomal dominant 3 +2 more	GUncertain significance
Select item 2922781	NM_002860.4(ALDH18A1):c.2097C>T (p.Ile699=)	ALDH18A1	Single nucleotide variant (synonymous variant)	Cutis laxa, autosomal dominant 3 +2 more	GLikely benign
Select item 2922432	NM_002860.4(ALDH18A1):c.251G>C (p.Arg84Pro)	ALDH18A1 (R84P)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, autosomal dominant 3 +2 more	GUncertain significance
Select item 2921660	NM_002860.4(ALDH18A1):c.1606-13T>C	ALDH18A1	Single nucleotide variant (intron variant)	Autosomal dominant spastic paraplegia type 9 +2 more	GLikely benign
Select item 2672410	NM_002860.4(ALDH18A1):c.220G>A (p.Val74Met)	ALDH18A1 (V74M)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 2640714	NM_002860.4(ALDH18A1):c.1177G>A (p.Ala393Thr)	ALDH18A1 (A181T +5 more)	Single nucleotide variant (missense variant)	Cutis laxa, autosomal dominant 3 +3 more	GUncertain significance
Select item 2640710	NM_002860.4(ALDH18A1):c.2088G>A (p.Thr696=)	ALDH18A1	Single nucleotide variant (synonymous variant)	Cutis laxa, autosomal dominant 3 +3 more	GLikely benign

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