ALDH9A1[gene] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 57465	GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1	ADAMTS4, ALDH9A1 +371 more	Copy number loss	See cases	GPathogenic
Select item 60042	GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)x1	ADCY10, ALDH9A1 +406 more	Copy number loss	See cases	GPathogenic
Select item 60043	GRCh38/hg38 1q23.3-24.2(chr1:162040050-167480663)x1	LOC129931815, LOC129931816 +151 more	Copy number loss	See cases	GPathogenic
Select item 155225	GRCh38/hg38 1q23.3-25.1(chr1:163382523-175877022)x1	LOC129388624, LOC129388625 +407 more	Copy number loss	See cases	GPathogenic
Select item 59374	GRCh38/hg38 1q23.3-24.1(chr1:164547546-165689403)x1	ALDH9A1, LMX1A +28 more	Copy number loss	See cases	GUncertain significance
Select item 58111	GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3	FAM163A, FAM20B +482 more	Copy number gain	See cases	GPathogenic
Select item 2376219	NM_000696.4(ALDH9A1):c.1492A>G (p.Ile498Val)	ALDH9A1 (I404V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344977	NM_000696.4(ALDH9A1):c.1484G>A (p.Arg495His)	ALDH9A1 (R401H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283748	NM_000696.4(ALDH9A1):c.1480G>A (p.Gly494Ser)	ALDH9A1 (G494S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253276	NM_000696.4(ALDH9A1):c.1468G>C (p.Gly490Arg)	ALDH9A1 (G490R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110161	NM_000696.4(ALDH9A1):c.1310A>G (p.Asn437Ser)	ALDH9A1 (N437S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207108	NM_000696.4(ALDH9A1):c.1278T>G (p.Phe426Leu)	ALDH9A1 (F332L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513303	NM_000696.4(ALDH9A1):c.1265C>T (p.Ser422Phe)	ALDH9A1 (S328F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110145	NM_000696.4(ALDH9A1):c.1263G>A (p.Met421Ile)	ALDH9A1 (M327I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366022	NM_000696.4(ALDH9A1):c.1178A>G (p.Asp393Gly)	ALDH9A1 (D299G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283811	NM_000696.4(ALDH9A1):c.1157C>A (p.Pro386His)	ALDH9A1 (P386H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275518	NM_000696.4(ALDH9A1):c.1147A>C (p.Ile383Leu)	ALDH9A1 (I289L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2593041	NM_000696.4(ALDH9A1):c.1090C>G (p.Leu364Val)	ALDH9A1 (L270V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283757	NM_000696.4(ALDH9A1):c.1085G>A (p.Arg362Gln)	ALDH9A1 (R268Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334876	NM_000696.4(ALDH9A1):c.967G>C (p.Glu323Gln)	ALDH9A1 (E323Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2672367	NM_000696.4(ALDH9A1):c.931G>T (p.Val311Phe)	ALDH9A1 (V217F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3283800	NM_000696.4(ALDH9A1):c.910A>G (p.Asn304Asp)	ALDH9A1 (N210D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312354	NM_000696.4(ALDH9A1):c.820C>T (p.Pro274Ser)	ALDH9A1 (P180S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110211	NM_000696.4(ALDH9A1):c.742G>A (p.Asp248Asn)	ALDH9A1 (D248N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639526	NM_000696.4(ALDH9A1):c.729G>A (p.Leu243=)	ALDH9A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3283768	NM_000696.4(ALDH9A1):c.707G>A (p.Gly236Glu)	ALDH9A1 (G236E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283789	NM_000696.4(ALDH9A1):c.641T>C (p.Leu214Ser)	ALDH9A1 (L214S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284514	NM_000696.4(ALDH9A1):c.590G>C (p.Cys197Ser)	ALDH9A1 (C103S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110201	NM_000696.4(ALDH9A1):c.562T>C (p.Ser188Pro)	ALDH9A1 (S188P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110199	NM_000696.4(ALDH9A1):c.550T>G (p.Phe184Val)	ALDH9A1 (F184V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379683	NM_000696.4(ALDH9A1):c.548C>T (p.Pro183Leu)	ALDH9A1 (P183L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110192	NM_000696.4(ALDH9A1):c.485C>T (p.Ser162Leu)	ALDH9A1 (S162L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398868	NM_000696.4(ALDH9A1):c.431A>G (p.Tyr144Cys)	ALDH9A1 (Y50C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 6857	NM_000696.4(ALDH9A1):c.419G>C (p.Cys140Ser)	ALDH9A1 (C140S +1 more)	Single nucleotide variant (missense variant)	ALDH9A1*2 POLYMORPHISM	GAffects
Select item 219314	NM_000696.4(ALDH9A1):c.265T>C (p.Trp89Arg)	ALDH9A1 (W89R)	Single nucleotide variant (missense variant +1 more)	Malignant tumor of prostate	GUncertain significance
Select item 3110182	NM_000696.4(ALDH9A1):c.232G>A (p.Ala78Thr)	ALDH9A1 (A78T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349334	NM_000696.4(ALDH9A1):c.185G>A (p.Arg62Gln)	ALDH9A1 (R62Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2672368	NM_000696.4(ALDH9A1):c.110A>G (p.Asn37Ser)	ALDH9A1 (N37S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2512681	NM_000696.4(ALDH9A1):c.23C>T (p.Ala8Val)	ALDH9A1 (A8V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235834	NM_000696.4(ALDH9A1):c.22G>C (p.Ala8Pro)	ALDH9A1 (A8P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557076	NM_000696.4(ALDH9A1):c.11G>T (p.Arg4Leu)	ALDH9A1 (R4L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3283779	NM_000696.4(ALDH9A1):c.10C>G (p.Arg4Gly)	ALDH9A1 (R4G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685754	GRCh37/hg19 1q23.3-25.1(chr1:164571371-175708060)x1	ADCY10, ALDH9A1 +81 more	Copy number loss	not provided	GPathogenic
Select item 1527348	GRCh37/hg19 1q23.3-24.3(chr1:162330810-171532331)	ADCY10, ALDH9A1 +62 more	Copy number loss	not specified	GPathogenic
Select item 1527326	GRCh37/hg19 1q23.2-24.1(chr1:160417296-166197042)	ADAMTS4, ALDH9A1 +62 more	Copy number loss	not specified	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 979302	GRCh37/hg19 1q23.3-24.2(chr1:164608682-169216098)x1	STYXL2, GPR161 +30 more	Copy number loss	not provided	GLikely pathogenic
Select item 688465	GRCh37/hg19 1q23.3-24.2(chr1:163093021-168991239)x1	ADCY10, ALDH9A1 +30 more	Copy number loss	not provided	GPathogenic
Select item 688082	GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1	ACKR1, ADAMTS4 +132 more	Copy number loss	not provided	GPathogenic
Select item 625771	GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325)	ADCY10, ALDH9A1 +137 more	Copy number loss	not provided	GPathogenic
Select item 624496	GRCh37/hg19 1q24.1(chr1:165664534-165767373)x1	ALDH9A1, TMCO1	Copy number loss	not provided	GLikely benign
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 395654	GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1	SUCO, TADA1 +147 more	Copy number loss	See cases	GPathogenic

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Items: 56