8854[geneid] - ClinVar

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Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
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 749305	NM_003888.4(ALDH1A2):c.1542C>G (p.Pro514=)	ALDH1A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 1675576	NM_003888.4(ALDH1A2):c.1503G>A (p.Arg501=)	ALDH1A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1280142	NM_003888.4(ALDH1A2):c.1485-96G>C	ALDH1A2	Single nucleotide variant (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 1283631	NM_003888.4(ALDH1A2):c.1484+234G>A	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 777462	NM_003888.4(ALDH1A2):c.1484+10A>C	ALDH1A2	Single nucleotide variant (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 1239011	NM_003888.4(ALDH1A2):c.1410-64A>G	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 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 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 779960	NM_003888.4(ALDH1A2):c.1254C>A (p.Ile418=)	ALDH1A2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1233939	NM_003888.4(ALDH1A2):c.1251+221TTA[2]	ALDH1A2	Microsatellite (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 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 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 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 2645378	NM_003888.4(ALDH1A2):c.1146C>T (p.Gly382=)	ALDH1A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 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 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 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 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 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 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 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 1231774	NM_003888.4(ALDH1A2):c.799-216C>T	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 1231906	NM_003888.4(ALDH1A2):c.798+246G>T	ALDH1A2	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 1227751	NM_003888.4(ALDH1A2):c.556-117G>T	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 1274894	NM_003888.4(ALDH1A2):c.555+287A>G	ALDH1A2	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 1181141	NM_003888.4(ALDH1A2):c.494-98G>T	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 1251863	NM_003888.4(ALDH1A2):c.494-189T>C	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 788449	NM_003888.4(ALDH1A2):c.453A>G (p.Ala151=)	ALDH1A2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 1273529	NM_003888.4(ALDH1A2):c.364-26G>C	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 1275475	NM_003888.4(ALDH1A2):c.364-189G>A	ALDH1A2	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 3039063	NM_003888.4(ALDH1A2):c.223-6dup	ALDH1A2	Duplication (5 prime UTR variant +1 more)	ALDH1A2-related disorder	GBenign
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 1295044	NM_003888.4(ALDH1A2):c.118-72C>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 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 1277534	NM_003888.4(ALDH1A2):c.117+314del	ALDH1A2	Deletion (intron variant)	not provided	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 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 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 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 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 2685517	GRCh37/hg19 15q21.3-22.2(chr15:54020810-62086530)x1	ADAM10, ALDH1A2 +35 more	Copy number loss	not provided	GPathogenic
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 1526462	GRCh37/hg19 15q21.3(chr15:58292124-58323958)	ALDH1A2	Copy number loss	not specified	GUncertain significance
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 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

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Items: 84