ClinVar for Gene (Select 218) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3109462	NM_000691.5(ALDH3A1):c.859A>G (p.Ser287Gly)	ALDH3A1 (S214G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109459	NM_000691.5(ALDH3A1):c.641A>G (p.Lys214Arg)	ALDH3A1 (K141R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109444	NM_000691.5(ALDH3A1):c.560C>T (p.Thr187Met)	ALDH3A1 (T114M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109436	NM_000691.5(ALDH3A1):c.484C>G (p.Leu162Val)	ALDH3A1 (L162V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109422	NM_000691.5(ALDH3A1):c.134T>G (p.Val45Gly)	ALDH3A1 (V45G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063517	GRCh37/hg19 17p12-11.2(chr17:15759103-20564268)x1	ADORA2B, AKAP10 +61 more	Copy number loss	not specified	GPathogenic
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 2685598	GRCh37/hg19 17p11.2(chr17:16651293-20450566)x1	AKAP10, ALDH3A1 +49 more	Copy number loss	not provided	GPathogenic
Select item 2685597	GRCh37/hg19 17p12-11.2(chr17:15694772-20582794)x1	ADORA2B, AKAP10 +61 more	Copy number loss	not provided	GPathogenic
Select item 2684839	GRCh37/hg19 17p11.2-11.1(chr17:18614422-22227823)x3	AKAP10, ALDH3A1 +29 more	Copy number gain	not provided	GUncertain significance
Select item 2594970	NM_000691.5(ALDH3A1):c.129G>C (p.Glu43Asp)	ALDH3A1 (E43D)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2552029	NM_000691.5(ALDH3A1):c.382G>T (p.Ala128Ser)	ALDH3A1 (A128S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532038	NM_000691.5(ALDH3A1):c.61C>T (p.Arg21Cys)	ALDH3A1 (R21C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522854	NM_000691.5(ALDH3A1):c.1075G>A (p.Glu359Lys)	ALDH3A1 (E286K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519467	NM_000691.5(ALDH3A1):c.521C>T (p.Thr174Met)	ALDH3A1 (T174M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506529	GRCh37/hg19 17p11.2(chr17:16664739-20370783)	MPRIP, NT5M +49 more	Copy number gain	Potocki-Lupski syndrome	GPathogenic
Select item 2498730	GRCh37/hg19 17p11.2(chr17:17116969-20217378)x1	AKAP10, ALDH3A1 +44 more	Copy number loss	not provided	GPathogenic
Select item 2477164	NM_000691.5(ALDH3A1):c.1181A>G (p.His394Arg)	ALDH3A1 (H394R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2442791	NM_000691.5(ALDH3A1):c.703G>A (p.Gly235Arg)	ALDH3A1 (G162R +1 more)	Single nucleotide variant (missense variant)	Keratoconus	GLikely pathogenic
Select item 2391096	NM_000691.5(ALDH3A1):c.5G>A (p.Ser2Asn)	ALDH3A1 (S2N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362216	NM_000691.5(ALDH3A1):c.416C>T (p.Pro139Leu)	ALDH3A1 (P139L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308333	NM_000691.5(ALDH3A1):c.986C>T (p.Pro329Leu)	ALDH3A1 (P256L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273221	NM_000691.5(ALDH3A1):c.764C>G (p.Ser255Trp)	ALDH3A1 (S182W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269629	NM_000691.5(ALDH3A1):c.623C>T (p.Thr208Met)	ALDH3A1 (T135M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243830	NM_000691.5(ALDH3A1):c.980A>C (p.Gln327Pro)	ALDH3A1 (Q254P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233771	NM_000691.5(ALDH3A1):c.925G>A (p.Gly309Arg)	ALDH3A1 (G236R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226334	NM_000691.5(ALDH3A1):c.934G>A (p.Ala312Thr)	ALDH3A1 (A239T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223764	NM_000691.5(ALDH3A1):c.362C>T (p.Thr121Ile)	ALDH3A1 (T121I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1710929	GRCh37/hg19 17p11.2(chr17:16736709-20339460)x3	AKAP10, ALDH3A1 +47 more	Copy number gain	See cases	GUncertain significance
Select item 1703602	Single allele	ADORA2B, AKAP10 +78 more	Complex	PMP22-RAI1 contiguous gene duplication syndrome	GPathogenic
Select item 1703566	GRCh37/hg19 17p11.2(chr17:17151140-20187953)	AKAP10, ALDH3A1 +43 more	Copy number loss	Smith-Magenis syndrome	GPathogenic
Select item 1703565	GRCh37/hg19 17p11.2(chr17:16651292-20286898)	AKAP10, ALDH3A1 +48 more	Copy number loss	Smith-Magenis syndrome	GPathogenic
Select item 1675695	GRCh37/hg19 17p11.2(chr17:16664739-20217378)x1	AKAP10, ALDH3A1 +48 more	Copy number loss	not provided	GPathogenic
Select item 1340611	GRCh37/hg19 17p11.2(chr17:19559095-19708057)x3	ALDH3A1, ALDH3A2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1330162	GRCh37/hg19 17p11.2(chr17:16829153-20361747)x3	AKAP10, ALDH3A1 +48 more	Copy number gain	Potocki-Lupski syndrome	GPathogenic
Select item 1047866	GRCh37/hg19 17p11.2(chr17:16601603-20063369)	AKAP10, ALDH3A1 +48 more	Copy number gain	Potocki-Lupski syndrome	GPathogenic
Select item 1047863	GRCh37/hg19 17p11.2(chr17:17145361-20137943)	AKAP10, ALDH3A1 +43 more	Copy number loss	Smith-Magenis syndrome	GPathogenic
Select item 980119	GRCh37/hg19 17p11.2(chr17:18746987-20231379)x1	ULK2, SLC47A2 +16 more	Copy number loss	not provided	GUncertain significance
Select item 980115	GRCh37/hg19 17p11.2(chr17:16763370-20395611)x1	AKAP10, ALDH3A1 +48 more	Copy number loss	not provided	GPathogenic
Select item 980114	GRCh37/hg19 17p11.2(chr17:16761814-20330062)x3	SMCR8, SNORD3A +47 more	Copy number gain	not provided	GPathogenic
Select item 815916	GRCh37/hg19 17p11.2(chr17:19356083-19917814)x3	SLC47A2, ULK2 +5 more	Copy number gain	not provided	GUncertain significance
Select item 789897	NM_000691.5(ALDH3A1):c.933C>T (p.Ala311=)	ALDH3A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 778684	NM_000691.5(ALDH3A1):c.899G>A (p.Gly300Asp)	ALDH3A1 (G227D +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 770443	NM_000691.5(ALDH3A1):c.258C>T (p.Pro86=)	ALDH3A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 745983	NM_000691.5(ALDH3A1):c.697G>A (p.Ala233Thr)	ALDH3A1 (A160T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 739577	NM_000691.5(ALDH3A1):c.1026C>T (p.Ile342=)	ALDH3A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 725245	NM_000691.5(ALDH3A1):c.94G>A (p.Ala32Thr)	ALDH3A1 (A32T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 710461	NM_000691.5(ALDH3A1):c.141G>A (p.Ala47=)	ALDH3A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 710460	NM_000691.5(ALDH3A1):c.594G>A (p.Thr198=)	ALDH3A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 688255	GRCh37/hg19 17p11.2(chr17:19144143-20231379)x3	AKAP10, ALDH3A1 +10 more	Copy number gain	not provided	GUncertain significance
Select item 625730	GRCh37/hg19 17p11.2(chr17:16842991-20217316)	AKAP10, ALDH3A1 +47 more	Copy number loss	Smith-Magenis syndrome	GPathogenic
Select item 564418	GRCh37/hg19 17p11.2(chr17:18743223-20246715)x3	AKAP10, B9D1 +16 more	Copy number gain	not provided	GUncertain significance
Select item 564413	GRCh37/hg19 17p11.2(chr17:17021607-20015978)x1	AKAP10, ALDH3A1 +46 more	Copy number loss	not provided	GPathogenic
Select item 564412	GRCh37/hg19 17p11.2(chr17:16999980-20298979)x1	AKAP10, ALDH3A1 +46 more	Copy number loss	not provided	GPathogenic
Select item 564411	GRCh37/hg19 17p11.2(chr17:16761814-20292897)x3	AKAP10, ALDH3A1 +47 more	Copy number gain	not provided	GPathogenic
Select item 564409	GRCh37/hg19 17p11.2(chr17:16741411-20430791)x1	AKAP10, ALDH3A1 +48 more	Copy number loss	not provided	GPathogenic
Select item 564408	GRCh37/hg19 17p11.2(chr17:16727264-20310241)x1	GID4, GRAP +47 more	Copy number loss	not provided	GPathogenic
Select item 545218	NC_000017.11:g.(?_16770855)_(20585863_?)del	AKAP10, ALDH3A1 +252 more	Deletion	Autism	GPathogenic
Select item 545217	Single allele	FAM106A, FAM106B +248 more	Duplication	Autism	GPathogenic
Select item 523257	GRCh37/hg19 17p11.2(chr17:16842163-20217777)	COPS3, DRC3 +47 more	Copy number gain	Delayed gross motor development +3 more	GPathogenic
Select item 523256	GRCh37/hg19 17p11.2(chr17:16782546-20294038)	TRIM16L, MED9 +47 more	Copy number loss	Pes valgus +9 more	GPathogenic
Select item 496743	arr[hg19]17p11.2(16,757,111-20,219,651)x3	MYO15A, NT5M +47 more	Duplication	Potocki-Lupski syndrome	GPathogenic
Select item 443760	GRCh37/hg19 17p11.2(chr17:16761814-20339795)x3	AKAP10, ALDH3A1 +47 more	Copy number gain	See cases	GPathogenic
Select item 443148	GRCh37/hg19 17p11.2(chr17:16745600-20396173)x1	AKAP10, ALDH3A1 +48 more	Copy number loss	See cases	GPathogenic
Select item 442933	GRCh37/hg19 17p11.2(chr17:17200426-21900910)x1	B9D1, AKAP10 +51 more	Copy number loss	See cases	GPathogenic
Select item 442905	GRCh37/hg19 17p11.2(chr17:16651292-20437532)x3	AKAP10, ALDH3A1 +49 more	Copy number gain	See cases	GPathogenic
Select item 442859	GRCh37/hg19 17p11.2(chr17:19144143-20231379)x1	AKAP10, ALDH3A1 +10 more	Copy number loss	See cases	GLikely pathogenic
Select item 442858	GRCh37/hg19 17p11.2(chr17:19144143-20231379)x3	AKAP10, ALDH3A1 +10 more	Copy number gain	See cases	GUncertain significance
Select item 442795	GRCh37/hg19 17p11.2(chr17:16591260-20473937)x3	AKAP10, ALDH3A1 +49 more	Copy number gain	See cases	GPathogenic
Select item 442542	GRCh37/hg19 17p11.2(chr17:16741411-20410218)x1	AKAP10, ALDH3A1 +48 more	Copy number loss	See cases	GPathogenic
Select item 442368	GRCh37/hg19 17p11.2(chr17:16772264-20297091)x1	AKAP10, ALDH3A1 +47 more	Copy number loss	See cases	GPathogenic
Select item 442167	GRCh37/hg19 17p11.2(chr17:16738161-20338182)x3	AKAP10, ALDH3A1 +47 more	Copy number gain	See cases	GPathogenic
Select item 441899	GRCh37/hg19 17p11.2(chr17:16741411-20489023)x1	AKAP10, ALDH3A1 +49 more	Copy number loss	See cases	GPathogenic
Select item 441894	GRCh37/hg19 17p11.2(chr17:19556273-20111304)x1	AKAP10, ALDH3A1 +4 more	Copy number loss	See cases	GUncertain significance
Select item 441875	GRCh37/hg19 17p11.2(chr17:16727264-20395889)x1	AKAP10, ALDH3A1 +48 more	Copy number loss	See cases	GPathogenic
Select item 441841	GRCh37/hg19 17p11.2(chr17:16727264-20413564)x1	AKAP10, ALDH3A1 +48 more	Copy number loss	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic
Select item 395659	GRCh37/hg19 17p11.2(chr17:16637902-20261250)x1	AKAP10, ALDH3A1 +48 more	Copy number loss	See cases	GPathogenic
Select item 394560	GRCh37/hg19 17p12-11.2(chr17:15745315-20261191)x1	ADORA2B, AKAP10 +59 more	Copy number loss	See cases	GPathogenic
Select item 394152	GRCh37/hg19 17p11.2(chr17:16757564-20261191)x1	AKAP10, ALDH3A1 +47 more	Copy number loss	See cases	GPathogenic
Select item 393895	GRCh37/hg19 17p11.2(chr17:16603130-20261191)x1	AKAP10, ALDH3A1 +48 more	Copy number loss	See cases	GPathogenic
Select item 393812	GRCh37/hg19 17p11.2(chr17:16740141-20261191)x3	AKAP10, ALDH3A1 +47 more	Copy number gain	See cases	GPathogenic
Select item 253750	GRCh37/hg19 17p11.2(chr17:19566664-19845308)x3	SLC47A2, ALDH3A2 +3 more	Copy number gain	See cases	GUncertain significance
Select item 253648	GRCh37/hg19 17p11.2(chr17:16654302-20261250)x1	AKAP10, ALDH3A1 +48 more	Copy number loss	See cases	GPathogenic
Select item 253611	GRCh37/hg19 17p12-11.2(chr17:15767020-20261250)x3	ADORA2B, AKAP10 +59 more	Copy number gain	See cases	GPathogenic
Select item 253426	GRCh37/hg19 17p11.2(chr17:17053390-19893098)x1	EPN2, EVPLL +45 more	Copy number loss	See cases	GPathogenic
Select item 155648	GRCh38/hg38 17p11.2(chr17:16426633-20998588)x3	LOC130060361, LOC130060362 +281 more	Copy number gain	See cases	GPathogenic
Select item 155583	GRCh38/hg38 17p12-11.2(chr17:15850859-20649235)x1	FAM106C, FAM83G +311 more	Copy number loss	See cases	GPathogenic
Select item 155529	GRCh38/hg38 17p11.2(chr17:16853120-20436482)x1	AKAP10, ALDH3A1 +243 more	Copy number loss	See cases	GPathogenic
Select item 155418	GRCh38/hg38 17p12-11.2(chr17:15729893-20510251)x1	LOC126862516, LOC126862517 +314 more	Copy number loss	See cases	GPathogenic
Select item 155350	GRCh38/hg38 17p11.2(chr17:16718415-20546210)x3	AKAP10, ALDH3A1 +252 more	Copy number gain	See cases	GPathogenic
Select item 155314	GRCh38/hg38 17p11.2(chr17:16696708-20492860)x3	LOC130060442, LOC130060443 +251 more	Copy number gain	See cases	GPathogenic
Select item 155143	GRCh38/hg38 17p11.2(chr17:16858500-20559337)x1	AKAP10, ALDH3A1 +246 more	Copy number loss	See cases	GPathogenic
Select item 155114	GRCh38/hg38 17p11.2(chr17:16699816-20428292)x1	AKAP10, ALDH3A1 +249 more	Copy number loss	See cases	GPathogenic
Select item 155110	GRCh38/hg38 17p12-11.2(chr17:15883037-20658018)x1	ADORA2B, AKAP10 +311 more	Copy number loss	See cases	GPathogenic
Select item 154666	GRCh38/hg38 17p11.2(chr17:19744033-21598663)x3	AKAP10, ALDH3A1 +67 more	Copy number gain	See cases	GUncertain significance
Select item 153822	GRCh38/hg38 17p11.2(chr17:16858500-20570955)x3	AKAP10, ALDH3A1 +246 more	Copy number gain	See cases	GPathogenic
Select item 153671	GRCh38/hg38 17p11.2(chr17:16838097-20436415)x1	AKAP10, ALDH3A1 +244 more	Copy number loss	See cases	GPathogenic
Select item 153249	GRCh38/hg38 17p11.2(chr17:19533508-19751472)x1	ALDH3A1, ALDH3A2 +8 more	Copy number loss	See cases	GLikely benign

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