ClinVar for Gene (Select 8854) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3341855	NM_003888.4(ALDH1A2):c.1217A>G (p.Asn406Ser)	ALDH1A2 (N310S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3283417	NM_003888.4(ALDH1A2):c.230T>C (p.Ile77Thr)	ALDH1A2 (I56T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3235243	NM_003888.4(ALDH1A2):c.833G>A (p.Ser278Asn)	ALDH1A2 (S182N +3 more)	Single nucleotide variant (missense variant)	Diaphragmatic hernia 4, with cardiovascular defects	GUncertain significance
Select item 3235240	NM_003888.4(ALDH1A2):c.1087-1G>T	ALDH1A2	Single nucleotide variant (splice acceptor variant)	Diaphragmatic hernia 4, with cardiovascular defects	GUncertain significance
Select item 3108951	NM_003888.4(ALDH1A2):c.818A>C (p.Glu273Ala)	ALDH1A2 (E235A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108947	NM_003888.4(ALDH1A2):c.712A>G (p.Ile238Val)	ALDH1A2 (I142V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108921	NM_003888.4(ALDH1A2):c.1127A>G (p.Gln376Arg)	ALDH1A2 (Q280R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108920	NM_003888.4(ALDH1A2):c.1109A>G (p.Lys370Arg)	ALDH1A2 (K349R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108915	NM_003888.4(ALDH1A2):c.1063C>T (p.Pro355Ser)	ALDH1A2 (P334S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108910	NM_003888.4(ALDH1A2):c.1034A>T (p.Lys345Met)	ALDH1A2 (K345M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3064766	NM_003888.4(ALDH1A2):c.117+7508dup	ALDH1A2 (I14fs)	Duplication (frameshift variant +1 more)	Diaphragmatic hernia 4, with cardiovascular defects	GUncertain significance
Select item 3060978	NM_003888.4(ALDH1A2):c.-6G>A	ALDH1A2, ALDH1A2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	ALDH1A2-related disorder	GBenign
Select item 3052449	NM_003888.4(ALDH1A2):c.111C>T (p.Tyr37=)	ALDH1A2, ALDH1A2-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	ALDH1A2-related disorder	GLikely benign
Select item 3039115	NM_003888.4(ALDH1A2):c.735G>A (p.Thr245=)	ALDH1A2	Single nucleotide variant (synonymous variant +1 more)	ALDH1A2-related disorder	GBenign
Select item 3039063	NM_003888.4(ALDH1A2):c.223-6dup	ALDH1A2	Duplication (5 prime UTR variant +1 more)	ALDH1A2-related disorder	GBenign
Select item 3024882	NM_003888.4(ALDH1A2):c.49G>A (p.Ala17Thr)	ALDH1A2, ALDH1A2-AS1 (A17T)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2685517	GRCh37/hg19 15q21.3-22.2(chr15:54020810-62086530)x1	ADAM10, ALDH1A2 +35 more	Copy number loss	not provided	GPathogenic
Select item 2645379	NM_003888.4(ALDH1A2):c.258G>A (p.Leu86=)	ALDH1A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2645378	NM_003888.4(ALDH1A2):c.1146C>T (p.Gly382=)	ALDH1A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2548684	NM_003888.4(ALDH1A2):c.838T>G (p.Leu280Val)	ALDH1A2 (L259V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541748	NM_003888.4(ALDH1A2):c.1382C>G (p.Ser461Cys)	ALDH1A2 (S423C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539949	NM_003888.4(ALDH1A2):c.1521G>C (p.Lys507Asn)	ALDH1A2 (K486N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531157	NM_003888.4(ALDH1A2):c.530T>C (p.Ile177Thr)	ALDH1A2 (I156T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383300	NM_003888.4(ALDH1A2):c.1541C>T (p.Pro514Leu)	ALDH1A2 (P476L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315648	NM_003888.4(ALDH1A2):c.1540C>G (p.Pro514Ala)	ALDH1A2 (P514A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308432	NM_003888.4(ALDH1A2):c.92C>T (p.Pro31Leu)	ALDH1A2, ALDH1A2-AS1 (P31L)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2233002	NM_003888.4(ALDH1A2):c.203A>G (p.Glu68Gly)	ALDH1A2 (E47G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232413	NM_003888.4(ALDH1A2):c.28G>C (p.Gly10Arg)	ALDH1A2, ALDH1A2-AS1 (G10R)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 1807706	GRCh37/hg19 15q21.1-22.2(chr15:48589845-63543438)x3	ADAM10, ALDH1A2 +81 more	Copy number gain	not provided	GPathogenic
Select item 1703739	NM_003888.4(ALDH1A2):c.1040G>A (p.Arg347His)	ALDH1A2 (R251H +2 more)	Single nucleotide variant (missense variant)	Diaphragmatic hernia 4, with cardiovascular defects	GPathogenic
Select item 1703738	NM_003888.4(ALDH1A2):c.1147G>A (p.Ala383Thr)	ALDH1A2 (A287T +2 more)	Single nucleotide variant (missense variant)	Diaphragmatic hernia 4, with cardiovascular defects	GPathogenic
Select item 1703737	NM_003888.4(ALDH1A2):c.1382C>A (p.Ser461Tyr)	ALDH1A2 (S365Y +2 more)	Single nucleotide variant (missense variant)	Diaphragmatic hernia 4, with cardiovascular defects	GPathogenic
Select item 1703736	NM_003888.4(ALDH1A2):c.544C>A (p.Gln182Lys)	ALDH1A2 (Q161K +1 more)	Single nucleotide variant (missense variant)	Diaphragmatic hernia 4, with cardiovascular defects	GPathogenic
Select item 1686421	NM_003888.4(ALDH1A2):c.451G>T (p.Ala151Ser)	ALDH1A2 (A130S +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 1675577	NM_003888.4(ALDH1A2):c.850A>G (p.Thr284Ala)	ALDH1A2 (T188A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1675576	NM_003888.4(ALDH1A2):c.1503G>A (p.Arg501=)	ALDH1A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1526462	GRCh37/hg19 15q21.3(chr15:58292124-58323958)	ALDH1A2	Copy number loss	not specified	GUncertain significance
Select item 1295044	NM_003888.4(ALDH1A2):c.118-72C>T	ALDH1A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283631	NM_003888.4(ALDH1A2):c.1484+234G>A	ALDH1A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283415	NM_003888.4(ALDH1A2):c.494-136C>T	ALDH1A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282936	NM_003888.4(ALDH1A2):c.493+290T>C	ALDH1A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282331	NM_003888.4(ALDH1A2):c.1484+117C>T	ALDH1A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281282	NM_003888.4(ALDH1A2):c.364-161G>A	ALDH1A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280142	NM_003888.4(ALDH1A2):c.1485-96G>C	ALDH1A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279228	NM_003888.4(ALDH1A2):c.556-324T>C	ALDH1A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277534	NM_003888.4(ALDH1A2):c.117+314del	ALDH1A2	Deletion (intron variant)	not provided	GBenign
Select item 1276789	NM_003888.4(ALDH1A2):c.1410-20G>A	ALDH1A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275475	NM_003888.4(ALDH1A2):c.364-189G>A	ALDH1A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274894	NM_003888.4(ALDH1A2):c.555+287A>G	ALDH1A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273529	NM_003888.4(ALDH1A2):c.364-26G>C	ALDH1A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263109	NM_003888.4(ALDH1A2):c.799-317T>C	ALDH1A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257533	NM_003888.4(ALDH1A2):c.1251+32A>T	ALDH1A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251863	NM_003888.4(ALDH1A2):c.494-189T>C	ALDH1A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251293	NM_003888.4(ALDH1A2):c.902-29G>A	ALDH1A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241238	NM_003888.4(ALDH1A2):c.901+76G>A	ALDH1A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239011	NM_003888.4(ALDH1A2):c.1410-64A>G	ALDH1A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233939	NM_003888.4(ALDH1A2):c.1251+221TTA[2]	ALDH1A2	Microsatellite (intron variant)	not provided	GBenign
Select item 1232066	NM_003888.4(ALDH1A2):c.1485-201_1485-199del	ALDH1A2	Microsatellite (intron variant)	not provided	GBenign
Select item 1231906	NM_003888.4(ALDH1A2):c.798+246G>T	ALDH1A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231774	NM_003888.4(ALDH1A2):c.799-216C>T	ALDH1A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229057	NM_003888.4(ALDH1A2):c.118-314T>C	ALDH1A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227751	NM_003888.4(ALDH1A2):c.556-117G>T	ALDH1A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226239	NM_003888.4(ALDH1A2):c.1409+66A>C	ALDH1A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181141	NM_003888.4(ALDH1A2):c.494-98G>T	ALDH1A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 980520	GRCh37/hg19 15q21.3(chr15:57414627-58960510)x3	ADAM10, ALDH1A2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 788449	NM_003888.4(ALDH1A2):c.453A>G (p.Ala151=)	ALDH1A2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 779960	NM_003888.4(ALDH1A2):c.1254C>A (p.Ile418=)	ALDH1A2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 777462	NM_003888.4(ALDH1A2):c.1484+10A>C	ALDH1A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 749305	NM_003888.4(ALDH1A2):c.1542C>G (p.Pro514=)	ALDH1A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 747006	NM_003888.4(ALDH1A2):c.1235G>A (p.Arg412Gln)	ALDH1A2 (R316Q +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 685183	GRCh37/hg19 15q21.1-22.2(chr15:48000433-60747551)x3	ADAM10, ALDH1A2 +76 more	Copy number gain	not provided	GPathogenic
Select item 564209	GRCh37/hg19 15q21.3(chr15:57608623-59029582)x3	ADAM10, ALDH1A2 +5 more	Copy number gain	not provided	GUncertain significance
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 442636	GRCh37/hg19 15q21.3-22.2(chr15:58088503-62221756)x1	ADAM10, ALDH1A2 +17 more	Copy number loss	See cases	GPathogenic
Select item 442376	GRCh37/hg19 15q21.3(chr15:57518653-58974175)x3	ADAM10, ALDH1A2 +6 more	Copy number gain	See cases	GLikely pathogenic
Select item 395193	GRCh37/hg19 15q21.3-22.2(chr15:54713558-62769295)x1	ADAM10, ALDH1A2 +37 more	Copy number loss	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic
Select item 57882	GRCh38/hg38 15q21.3-22.2(chr15:57567950-63019415)x1	ADAM10, ALDH1A2 +163 more	Copy number loss	See cases	GPathogenic
Select item 57881	GRCh38/hg38 15q21.2-22.2(chr15:50864913-59646577)x1	ADAM10, ALDH1A2 +287 more	Copy number loss	See cases	GPathogenic
Select item 57220	GRCh38/hg38 15q21.3-22.2(chr15:57456076-61907285)x1	LOC126862145, LOC126862146 +140 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 84