ClinVar for Gene (Select 220) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3350442	NM_000693.4(ALDH1A3):c.1234-5C>G	ALDH1A3, ALDH1A3-AS1	Single nucleotide variant (intron variant)	ALDH1A3-related disorder	GLikely benign
Select item 3283436	NM_000693.4(ALDH1A3):c.1141T>A (p.Cys381Ser)	ALDH1A3, ALDH1A3-AS1 (C274S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3283425	NM_000693.4(ALDH1A3):c.125A>C (p.Glu42Ala)	ALDH1A3 (E42A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3242325	GRCh37/hg19 15q26.3(chr15:98615561-102400033)x1	ADAMTS17, ALDH1A3 +19 more	Copy number loss	not provided	GPathogenic
Select item 3109007	NM_000693.4(ALDH1A3):c.946G>A (p.Ala316Thr)	ALDH1A3, ALDH1A3-AS1 (A209T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3109003	NM_000693.4(ALDH1A3):c.872C>A (p.Ala291Glu)	ALDH1A3, ALDH1A3-AS1 (A184E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3109000	NM_000693.4(ALDH1A3):c.697G>A (p.Val233Met)	ALDH1A3, ALDH1A3-AS1 (V126M +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3108997	NM_000693.4(ALDH1A3):c.612G>T (p.Lys204Asn)	ALDH1A3, ALDH1A3-AS1 (K204N)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3108975	NM_000693.4(ALDH1A3):c.170G>A (p.Arg57Gln)	ALDH1A3 (R57Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3064143	NM_000693.4(ALDH1A3):c.1105A>T (p.Ile369Phe)	ALDH1A3, ALDH1A3-AS1 (I262F +1 more)	Single nucleotide variant (missense variant)	Isolated microphthalmia 8	GLikely pathogenic
Select item 3063384	GRCh37/hg19 15q26.1-26.3(chr15:94176550-102429112)x3	ADAMTS17, ALDH1A3 +23 more	Copy number gain	not specified	GPathogenic
Select item 3063383	GRCh37/hg19 15q26.2-26.3(chr15:94300072-101810099)x1	ADAMTS17, ALDH1A3 +16 more	Copy number loss	not specified	GPathogenic
Select item 3063364	GRCh37/hg19 15q26.3(chr15:98679543-102429112)x1	ADAMTS17, ALDH1A3 +19 more	Copy number loss	not specified	GPathogenic
Select item 3042508	NM_000693.4(ALDH1A3):c.1458C>T (p.Gly486=)	ALDH1A3, ALDH1A3-AS1	Single nucleotide variant (synonymous variant)	ALDH1A3-related disorder	GLikely benign
Select item 3039469	NM_000693.4(ALDH1A3):c.781-6C>T	ALDH1A3, ALDH1A3-AS1	Single nucleotide variant (intron variant)	ALDH1A3-related disorder	GLikely benign
Select item 3037497	NM_000693.4(ALDH1A3):c.99+7C>A	ALDH1A3	Single nucleotide variant (intron variant)	ALDH1A3-related disorder	GLikely benign
Select item 3031739	NM_000693.4(ALDH1A3):c.333C>T (p.Arg111=)	ALDH1A3	Single nucleotide variant (synonymous variant)	ALDH1A3-related disorder	GLikely benign
Select item 2987235	NM_000693.4(ALDH1A3):c.966G>A (p.Val322=)	ALDH1A3-AS1, ALDH1A3	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 8	GLikely benign
Select item 2887289	NM_000693.4(ALDH1A3):c.432T>C (p.Phe144=)	ALDH1A3, ALDH1A3-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	Isolated microphthalmia 8	GLikely benign
Select item 2690875	NM_000693.4(ALDH1A3):c.865G>A (p.Val289Met)	ALDH1A3, ALDH1A3-AS1 (V182M +1 more)	Single nucleotide variant (missense variant)	Isolated microphthalmia 8	GUncertain significance
Select item 2671598	Single allele	ADAMTS17, ALDH1A3 +19 more	Deletion	not provided	GPathogenic
Select item 2645748	NM_000693.4(ALDH1A3):c.99+132C>G	ALDH1A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2604132	NM_000693.4(ALDH1A3):c.1527C>G (p.Asp509Glu)	ALDH1A3, ALDH1A3-AS1 (D402E +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2596415	NM_000693.4(ALDH1A3):c.26A>T (p.Glu9Val)	ALDH1A3 (E9V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2580298	GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3	ABHD17C, ABHD2 +174 more	Copy number gain	See cases	GPathogenic
Select item 2528589	NM_000693.4(ALDH1A3):c.19G>C (p.Ala7Pro)	ALDH1A3 (A7P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508651	NM_000693.4(ALDH1A3):c.487G>A (p.Val163Met)	ALDH1A3, ALDH1A3-AS1 (V163M)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2498631	GRCh37/hg19 15q25.2-26.3(chr15:84228005-102264590)x3	ABHD2, ACAN +86 more	Copy number gain	not provided	GPathogenic
Select item 2461351	NM_000693.4(ALDH1A3):c.1385C>T (p.Thr462Met)	ALDH1A3, ALDH1A3-AS1 (T355M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2426853	NC_000015.9:g.(?_101420113)_(101464954_?)dup	ALDH1A3, LRRK1	Duplication	not provided	GUncertain significance
Select item 2391011	NM_000693.4(ALDH1A3):c.1295C>T (p.Ala432Val)	ALDH1A3, ALDH1A3-AS1 (A432V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278922	NM_000693.4(ALDH1A3):c.1021C>T (p.Arg341Trp)	ALDH1A3, ALDH1A3-AS1 (R234W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276924	NM_000693.4(ALDH1A3):c.502C>T (p.His168Tyr)	ALDH1A3, ALDH1A3-AS1 (H168Y)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2231864	NM_000693.4(ALDH1A3):c.1027G>A (p.Val343Met)	ALDH1A3, ALDH1A3-AS1 (V343M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2198974	NM_000693.4(ALDH1A3):c.366A>G (p.Thr122=)	ALDH1A3, ALDH1A3-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	Isolated microphthalmia 8	GLikely benign
Select item 2195890	NM_000693.4(ALDH1A3):c.873G>A (p.Ala291=)	ALDH1A3, ALDH1A3-AS1	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 8	GLikely benign
Select item 1976687	NM_000693.4(ALDH1A3):c.1068+14T>C	ALDH1A3, ALDH1A3-AS1	Single nucleotide variant (intron variant)	Isolated microphthalmia 8	GBenign
Select item 1954065	NM_000693.4(ALDH1A3):c.361G>A (p.Asp121Asn)	ALDH1A3, ALDH1A3-AS1 (D121N)	Single nucleotide variant (non-coding transcript variant +2 more)	Isolated microphthalmia 8	GUncertain significance
Select item 1809424	GRCh37/hg19 15q24.3-26.3(chr15:77512817-102035027)x3	ABHD17C, ABHD2 +139 more	Copy number gain	not provided	GPathogenic
Select item 1803004	NM_000693.4(ALDH1A3):c.1233+2T>C	ALDH1A3, ALDH1A3-AS1	Single nucleotide variant (splice donor variant)	Isolated microphthalmia 8	GPathogenic
Select item 1803003	NM_000693.4(ALDH1A3):c.100-2A>G	ALDH1A3	Single nucleotide variant (splice acceptor variant)	Isolated microphthalmia 8	GPathogenic
Select item 1803002	NM_000693.4(ALDH1A3):c.566G>A (p.Trp189Ter)	ALDH1A3-AS1, ALDH1A3 (W189*)	Single nucleotide variant (non-coding transcript variant +2 more)	Isolated microphthalmia 8	GPathogenic
Select item 1803001	NM_000693.4(ALDH1A3):c.953C>A (p.Ser318Tyr)	ALDH1A3, ALDH1A3-AS1 (S211Y +1 more)	Single nucleotide variant (missense variant)	Isolated microphthalmia 8	GUncertain significance
Select item 1803000	NM_000693.4(ALDH1A3):c.847_849del (p.Gly283del)	ALDH1A3, ALDH1A3-AS1 (G176del +1 more)	Deletion (inframe_deletion)	Isolated microphthalmia 8	GUncertain significance
Select item 1802999	NM_000693.4(ALDH1A3):c.1459A>G (p.Arg487Gly)	ALDH1A3, ALDH1A3-AS1 (R380G +1 more)	Single nucleotide variant (missense variant)	Isolated microphthalmia 8	GLikely pathogenic
Select item 1802998	NM_000693.4(ALDH1A3):c.845G>C (p.Gly282Ala)	ALDH1A3, ALDH1A3-AS1 (G175A +1 more)	Single nucleotide variant (missense variant)	Isolated microphthalmia 8	GLikely pathogenic
Select item 1802997	NM_000693.4(ALDH1A3):c.1393A>T (p.Ile465Phe)	ALDH1A3, ALDH1A3-AS1 (I358F +1 more)	Single nucleotide variant (missense variant)	Isolated microphthalmia 8	GUncertain significance
Select item 1802996	NM_000693.4(ALDH1A3):c.434C>T (p.Ala145Val)	ALDH1A3, ALDH1A3-AS1 (A145V)	Single nucleotide variant (non-coding transcript variant +2 more)	Isolated microphthalmia 8	GLikely pathogenic
Select item 1802995	NM_000693.4(ALDH1A3):c.1144G>A (p.Gly382Arg)	ALDH1A3, ALDH1A3-AS1 (G275R +1 more)	Single nucleotide variant (missense variant)	Isolated microphthalmia 8	GLikely pathogenic
Select item 1802994	NM_000693.4(ALDH1A3):c.874G>T (p.Asp292Tyr)	ALDH1A3, ALDH1A3-AS1 (D185Y +1 more)	Single nucleotide variant (missense variant)	Isolated microphthalmia 8	GUncertain significance
Select item 1801374	NM_000693.4(ALDH1A3):c.550del (p.Leu184fs)	ALDH1A3, ALDH1A3-AS1 (L184fs)	Deletion (non-coding transcript variant +2 more)	Isolated microphthalmia 8	GPathogenic
Select item 1711391	NM_000693.4(ALDH1A3):c.99+129G>A	ALDH1A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1706690	NM_000693.4(ALDH1A3):c.883+193A>C	ALDH1A3, ALDH1A3-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1701914	NM_000693.4(ALDH1A3):c.1444del (p.Met482fs)	ALDH1A3-AS1, ALDH1A3 (M375fs +1 more)	Deletion (frameshift variant)	Microphthalmia	GPathogenic
Select item 1675588	NM_000693.4(ALDH1A3):c.99+15C>T	ALDH1A3	Single nucleotide variant (intron variant)	Isolated microphthalmia 8 +1 more	GLikely benign
Select item 1591839	NM_000693.4(ALDH1A3):c.345+15T>C	ALDH1A3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1526475	GRCh37/hg19 15q26.3(chr15:99258367-102429112)	ADAMTS17, ALDH1A3 +19 more	Copy number loss	not specified	GPathogenic
Select item 1526472	GRCh37/hg19 15q26.2-26.3(chr15:97223728-102429112)	ADAMTS17, ALDH1A3 +21 more	Copy number loss	not specified	GPathogenic
Select item 1526471	GRCh37/hg19 15q26.2-26.3(chr15:97026327-102429112)	ADAMTS17, ALDH1A3 +21 more	Copy number loss	not specified	GPathogenic
Select item 1448913	NC_000015.9:g.(?_98947180)_(101791661_?)dup	ADAMTS17, ALDH1A3 +12 more	Duplication	not provided	GUncertain significance
Select item 1426156	NM_000693.4(ALDH1A3):c.617C>T (p.Ala206Val)	ALDH1A3, ALDH1A3-AS1 (A206V)	Single nucleotide variant (non-coding transcript variant +2 more)	Isolated microphthalmia 8	GUncertain significance
Select item 1372977	NM_000693.4(ALDH1A3):c.439_458del (p.Trp147fs)	ALDH1A3, ALDH1A3-AS1 (W147fs)	Deletion (non-coding transcript variant +2 more)	Isolated microphthalmia 8	GPathogenic
Select item 1340047	GRCh37/hg19 15q26.3(chr15:101333004-101549123)x3	ALDH1A3, LRRK1	Copy number gain	not provided	GUncertain significance
Select item 1333588	NM_000693.4(ALDH1A3):c.884-2_885dup	ALDH1A3, ALDH1A3-AS1	Duplication (splice acceptor variant)	Isolated microphthalmia 8	GUncertain significance
Select item 1287624	NM_000693.4(ALDH1A3):c.*208C>T	ALDH1A3, ALDH1A3-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1286413	NC_000015.10:g.100879560T>A	ALDH1A3	Single nucleotide variant	not provided	GBenign
Select item 1286007	NM_000693.4(ALDH1A3):c.204+43G>T	ALDH1A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285759	NM_000693.4(ALDH1A3):c.666+290dup	ALDH1A3, ALDH1A3-AS1	Duplication (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1281068	NM_000693.4(ALDH1A3):c.780+82A>G	ALDH1A3, ALDH1A3-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281056	NM_000693.4(ALDH1A3):c.346-34T>C	ALDH1A3, ALDH1A3-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1273357	NM_000693.4(ALDH1A3):c.1068+24A>C	ALDH1A3, ALDH1A3-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271421	NM_000693.4(ALDH1A3):c.204+300dup	ALDH1A3	Duplication (intron variant)	not provided	GBenign
Select item 1267617	NM_000693.4(ALDH1A3):c.*174G>A	ALDH1A3, ALDH1A3-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1266437	NM_000693.4(ALDH1A3):c.1391+105A>G	ALDH1A3, ALDH1A3-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260489	NM_000693.4(ALDH1A3):c.475+69C>G	ALDH1A3, ALDH1A3-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1252718	NM_000693.4(ALDH1A3):c.345+81A>C	ALDH1A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246087	NM_000693.4(ALDH1A3):c.204+299_204+300dup	ALDH1A3	Duplication (intron variant)	not provided	GBenign
Select item 1243882	NC_000015.10:g.100879640G>A	ALDH1A3	Single nucleotide variant	not provided	GBenign
Select item 1243414	NM_000693.4(ALDH1A3):c.1233+307A>C	ALDH1A3, ALDH1A3-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242902	NC_000015.10:g.100879582G>A	ALDH1A3	Single nucleotide variant	not provided	GBenign
Select item 1240408	NM_000693.4(ALDH1A3):c.781-217T>C	ALDH1A3, ALDH1A3-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235548	NM_000693.4(ALDH1A3):c.1466+96G>A	ALDH1A3, ALDH1A3-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231938	NM_000693.4(ALDH1A3):c.*190A>G	ALDH1A3, ALDH1A3-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1224110	NM_000693.4(ALDH1A3):c.1391+274T>G	ALDH1A3, ALDH1A3-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219486	NM_000693.4(ALDH1A3):c.346-311C>T	ALDH1A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1218898	NM_000693.4(ALDH1A3):c.667-51G>A	ALDH1A3, ALDH1A3-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1216747	NM_000693.4(ALDH1A3):c.100-129G>A	ALDH1A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1216244	NM_000693.4(ALDH1A3):c.205-236_205-177del	ALDH1A3	Deletion (intron variant)	not provided	GLikely benign
Select item 1208368	NM_000693.4(ALDH1A3):c.1467-126C>A	ALDH1A3, ALDH1A3-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1202224	NM_000693.4(ALDH1A3):c.205-176G>C	ALDH1A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1199990	NM_000693.4(ALDH1A3):c.205-192C>G	ALDH1A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1199958	NM_000693.4(ALDH1A3):c.205-57C>T	ALDH1A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1198426	NM_000693.4(ALDH1A3):c.667-245C>T	ALDH1A3, ALDH1A3-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1198275	NM_000693.4(ALDH1A3):c.204+151G>A	ALDH1A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1189283	NM_000693.4(ALDH1A3):c.1069-287C>T	ALDH1A3, ALDH1A3-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1183310	NM_000693.4(ALDH1A3):c.*31G>C	ALDH1A3, ALDH1A3-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1182567	NM_000693.4(ALDH1A3):c.1068+219C>T	ALDH1A3, ALDH1A3-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180505	GRCh37/hg19 15q26.1-26.3(chr15:92335751-102399741)x1	ADAMTS17, ALDH1A3 +29 more	Copy number loss	not provided	GPathogenic
Select item 1177834	NM_000693.4(ALDH1A3):c.1068+91T>C	ALDH1A3, ALDH1A3-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1149669	NM_000693.4(ALDH1A3):c.1398C>T (p.Asn466=)	ALDH1A3, ALDH1A3-AS1	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 8	GLikely benign

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