ALDH1A3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057816, LOC130057817 +1763 more	Copy number gain	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	ABHD17C, ABHD2 +1244 more	Copy number gain	See cases	GPathogenic
Select item 147691	GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3	LOC111822949, LOC112272574 +664 more	Copy number gain	See cases	GPathogenic
Select item 146595	GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3	LOC130057971, LOC130057972 +630 more	Copy number gain	See cases	GPathogenic
Select item 58580	GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3	LOC130057938, LOC130057939 +611 more	Copy number gain	See cases	GPathogenic
Select item 153554	GRCh38/hg38 15q25.3-26.3(chr15:85397539-101888909)x3	ABHD2, ACAN +552 more	Copy number gain	See cases	GPathogenic
Select item 148189	GRCh38/hg38 15q25.3-26.3(chr15:85826665-101920998)x4	LOC130057962, LOC130057963 +517 more	Copy number gain	See cases	GPathogenic
Select item 146259	GRCh38/hg38 15q25.3-26.3(chr15:87904735-101843270)x3	LOC130058025, LOC130058026 +500 more	Copy number gain	See cases	GPathogenic
Select item 58582	GRCh38/hg38 15q26.1-26.3(chr15:89679237-101978958)x3	ADAMTS17, ALDH1A3 +422 more	Copy number gain	See cases	GPathogenic
Select item 152930	GRCh38/hg38 15q26.1-26.3(chr15:93041524-101941326)x3	ADAMTS17, ALDH1A3 +228 more	Copy number gain	See cases	GPathogenic
Select item 144251	GRCh38/hg38 15q26.1-26.3(chr15:93198717-101843270)x1	ADAMTS17, ALDH1A3 +224 more	Copy number loss	See cases	GPathogenic
Select item 155620	GRCh38/hg38 15q26.2-26.3(chr15:93805032-101326876)x1	ADAMTS17, ALDH1A3 +205 more	Copy number loss	See cases	GPathogenic
Select item 57195	GRCh38/hg38 15q26.2-26.3(chr15:94033008-101843270)x3	ADAMTS17, ALDH1A3 +218 more	Copy number gain	See cases	GPathogenic
Select item 147708	GRCh38/hg38 15q26.2-26.3(chr15:95770627-101810992)x1	LOC130058035, LOC130058036 +202 more	Copy number loss	See cases	GPathogenic
Select item 155021	GRCh38/hg38 15q26.2-26.3(chr15:96024127-101920998)x1	LOC126862250, LOC126862251 +203 more	Copy number loss	See cases	GPathogenic
Select item 59388	GRCh38/hg38 15q26.2-26.3(chr15:96069425-101849578)x1	ADAMTS17, ALDH1A3 +201 more	Copy number loss	See cases	GPathogenic
Select item 59402	GRCh38/hg38 15q26.2-26.3(chr15:96329791-101849578)x1	ADAMTS17, ALDH1A3 +195 more	Copy number loss	See cases	GPathogenic
Select item 146071	GRCh38/hg38 15q26.2-26.3(chr15:97014065-101843270)x1	ADAMTS17, ALDH1A3 +184 more	Copy number loss	See cases	GPathogenic
Select item 152750	GRCh38/hg38 15q26.2-26.3(chr15:97172754-101920998)x1	ADAMTS17, ALDH1A3 +185 more	Copy number loss	See cases	GPathogenic
Select item 151982	GRCh38/hg38 15q26.2-26.3(chr15:97283711-101920998)x3	ADAMTS17, ALDH1A3 +184 more	Copy number gain	See cases	GLikely pathogenic
Select item 155109	GRCh38/hg38 15q26.2-26.3(chr15:97681713-101920998)x1	ADAMTS17, ALDH1A3 +179 more	Copy number loss	See cases	GPathogenic
Select item 59404	GRCh38/hg38 15q26.2-26.3(chr15:97735430-101810992)x1	ADAMTS17, ALDH1A3 +174 more	Copy number loss	See cases	GPathogenic
Select item 150870	GRCh38/hg38 15q26.2-26.3(chr15:97941427-101797926)x1	ADAMTS17, ALDH1A3 +171 more	Copy number loss	See cases	GPathogenic
Select item 155459	GRCh38/hg38 15q26.3(chr15:98280297-101888909)x3	ADAMTS17, ALDH1A3 +165 more	Copy number gain	See cases	GPathogenic
Select item 154661	GRCh38/hg38 15q26.3(chr15:98467297-101843270)x1	ADAMTS17, ALDH1A3 +159 more	Copy number loss	See cases	GPathogenic
Select item 59405	GRCh38/hg38 15q26.3(chr15:98845807-101843270)x1	LOC130058072, LOC130058073 +148 more	Copy number loss	See cases	GPathogenic
Select item 145641	GRCh38/hg38 15q26.3(chr15:99155987-101843270)x1	ADAMTS17, ALDH1A3 +127 more	Copy number loss	See cases	GPathogenic
Select item 154512	GRCh38/hg38 15q26.3(chr15:99338283-101843270)x3	ADAMTS17, ALDH1A3 +121 more	Copy number gain	See cases	GPathogenic
Select item 146679	GRCh38/hg38 15q26.3(chr15:100194660-101373649)x3	ADAMTS17, ALDH1A3 +69 more	Copy number gain	See cases	GUncertain significance
Select item 59408	GRCh38/hg38 15q26.3(chr15:100222791-101843270)x1	ADAMTS17, ALDH1A3 +84 more	Copy number loss	See cases	GPathogenic
Select item 58385	GRCh38/hg38 15q26.3(chr15:100447986-101062436)x3	ALDH1A3, ALDH1A3-AS1 +32 more	Copy number gain	See cases	GUncertain significance
Select item 147911	GRCh38/hg38 15q26.3(chr15:100455891-101105126)x3	ALDH1A3, ALDH1A3-AS1 +33 more	Copy number gain	See cases	GUncertain significance
Select item 58225	GRCh38/hg38 15q26.3(chr15:100455891-101069775)x1	LRRK1, ALDH1A3 +32 more	Copy number loss	See cases	GUncertain significance
Select item 148565	GRCh38/hg38 15q26.3(chr15:100472094-101062436)x3	ALDH1A3, ALDH1A3-AS1 +32 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 58386	GRCh38/hg38 15q26.3(chr15:100502358-101087274)x3	ALDH1A3, ALDH1A3-AS1 +32 more	Copy number gain	See cases	GUncertain significance
Select item 150646	GRCh38/hg38 15q26.3(chr15:100515544-101045707)x3	ALDH1A3, ALDH1A3-AS1 +31 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 1286413	NC_000015.10:g.100879560T>A	ALDH1A3	Single nucleotide variant	not provided	GBenign
Select item 1242902	NC_000015.10:g.100879582G>A	ALDH1A3	Single nucleotide variant	not provided	GBenign
Select item 1243882	NC_000015.10:g.100879640G>A	ALDH1A3	Single nucleotide variant	not provided	GBenign
Select item 652391	NC_000015.9:g.(?_101420093)_(101454998_?)dup	ALDH1A3, ALDH1A3-AS1	Duplication	Isolated microphthalmia 8	GUncertain significance
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 2596415	NM_000693.4(ALDH1A3):c.26A>T (p.Glu9Val)	ALDH1A3 (E9V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 235693	NM_000693.4(ALDH1A3):c.43A>G (p.Arg15Gly)	ALDH1A3 (R15G)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 3037497	NM_000693.4(ALDH1A3):c.99+7C>A	ALDH1A3	Single nucleotide variant (intron variant)	ALDH1A3-related condition	GLikely benign
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 1711391	NM_000693.4(ALDH1A3):c.99+129G>A	ALDH1A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2645748	NM_000693.4(ALDH1A3):c.99+132C>G	ALDH1A3	Single nucleotide variant (intron variant)	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 1803003	NM_000693.4(ALDH1A3):c.100-2A>G	ALDH1A3	Single nucleotide variant (splice acceptor variant)	Isolated microphthalmia 8	GPathogenic
Select item 772098	NM_000693.4(ALDH1A3):c.123C>G (p.His41Gln)	ALDH1A3 (H41Q)	Single nucleotide variant (missense variant)	ALDH1A3-related condition +1 more	GLikely benign
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 498816	NM_000693.4(ALDH1A3):c.184G>T (p.Glu62Ter)	ALDH1A3 (E62*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 473868	NM_000693.4(ALDH1A3):c.204+5A>C	ALDH1A3	Single nucleotide variant (intron variant)	Isolated microphthalmia 8	GBenign
Select item 1286007	NM_000693.4(ALDH1A3):c.204+43G>T	ALDH1A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683870	NM_000693.4(ALDH1A3):c.204+127T>C	ALDH1A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198275	NM_000693.4(ALDH1A3):c.204+151G>A	ALDH1A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1271421	NM_000693.4(ALDH1A3):c.204+300dup	ALDH1A3	Duplication (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 1216244	NM_000693.4(ALDH1A3):c.205-236_205-177del	ALDH1A3	Deletion (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 1202224	NM_000693.4(ALDH1A3):c.205-176G>C	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 774103	NM_000693.4(ALDH1A3):c.210C>T (p.Asp70=)	ALDH1A3	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 8	GLikely benign
Select item 91908	NM_000693.4(ALDH1A3):c.211G>A (p.Val71Met)	ALDH1A3 (V71M)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 752811	NM_000693.4(ALDH1A3):c.258G>A (p.Ser86=)	ALDH1A3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 40203	NM_000693.4(ALDH1A3):c.265C>T (p.Arg89Cys)	ALDH1A3 (R89C)	Single nucleotide variant (missense variant)	Isolated microphthalmia 8	GPathogenic
Select item 978214	NM_000693.4(ALDH1A3):c.287G>A (p.Arg96His)	ALDH1A3 (R96H)	Single nucleotide variant (missense variant)	Isolated anophthalmia-microphthalmia syndrome	GPathogenic
Select item 772186	NM_000693.4(ALDH1A3):c.327G>A (p.Arg109=)	ALDH1A3	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 8	GBenign
Select item 3031739	NM_000693.4(ALDH1A3):c.333C>T (p.Arg111=)	ALDH1A3	Single nucleotide variant (synonymous variant)	ALDH1A3-related condition	GLikely benign
Select item 1591839	NM_000693.4(ALDH1A3):c.345+15T>C	ALDH1A3	Single nucleotide variant (intron variant)	Isolated microphthalmia 8	GBenign
Select item 1252718	NM_000693.4(ALDH1A3):c.345+81A>C	ALDH1A3	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 1281056	NM_000693.4(ALDH1A3):c.346-34T>C	ALDH1A3, ALDH1A3-AS1	Single nucleotide variant (intron variant +1 more)	not provided	GBenign
Select item 735994	NM_000693.4(ALDH1A3):c.346-4G>A	ALDH1A3, ALDH1A3-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1954065	NM_000693.4(ALDH1A3):c.361G>A (p.Asp121Asn)	ALDH1A3, ALDH1A3-AS1 (D121N)	Single nucleotide variant (missense variant +2 more)	Isolated microphthalmia 8	GUncertain significance
Select item 807325	NM_000693.4(ALDH1A3):c.365C>G (p.Thr122Arg)	ALDH1A3, ALDH1A3-AS1 (T122R)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	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 2887289	NM_000693.4(ALDH1A3):c.432T>C (p.Phe144=)	ALDH1A3, ALDH1A3-AS1	Single nucleotide variant (intron variant +2 more)	Isolated microphthalmia 8	GLikely benign
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 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 40205	NM_000693.4(ALDH1A3):c.475+1G>T	ALDH1A3, ALDH1A3-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	Isolated microphthalmia 8	GPathogenic
Select item 1260489	NM_000693.4(ALDH1A3):c.475+69C>G	ALDH1A3, ALDH1A3-AS1	Single nucleotide variant (intron variant +1 more)	not provided	GBenign
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 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 449288	NM_000693.4(ALDH1A3):c.537+5G>A	ALDH1A3, ALDH1A3-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 1117734	NM_000693.4(ALDH1A3):c.538-4G>A	ALDH1A3, ALDH1A3-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Isolated microphthalmia 8	GLikely benign
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 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 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 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 1285759	NM_000693.4(ALDH1A3):c.666+290dup	ALDH1A3, ALDH1A3-AS1	Duplication (non-coding transcript variant +1 more)	not provided	GBenign
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 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 473869	NM_000693.4(ALDH1A3):c.690G>A (p.Val230=)	ALDH1A3, ALDH1A3-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Isolated microphthalmia 8 +1 more	GLikely benign
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 767116	NM_000693.4(ALDH1A3):c.708C>T (p.Phe236=)	ALDH1A3, ALDH1A3-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 978215	NM_000693.4(ALDH1A3):c.709G>A (p.Gly237Arg)	ALDH1A3, ALDH1A3-AS1 (G130R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Isolated anophthalmia-microphthalmia syndrome	GPathogenic
Select item 744835	NM_000693.4(ALDH1A3):c.768C>T (p.Thr256=)	ALDH1A3, ALDH1A3-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 677157	NM_000693.4(ALDH1A3):c.780+56C>T	ALDH1A3, ALDH1A3-AS1	Single nucleotide variant (intron variant)	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

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