ACOT2[gene] - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 144734	GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1	SAMD15, SEL1L +503 more	Copy number loss	See cases	GPathogenic
Select item 155198	GRCh38/hg38 14q24.3-31.1(chr14:73343213-78835059)x1	ABCD4, ACOT1 +299 more	Copy number loss	See cases	GLikely pathogenic
Select item 2268603	NM_006821.6(ACOT2):c.22C>G (p.Pro8Ala)	ACOT2, HEATR4 (P8A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3137685	NM_006821.6(ACOT2):c.25C>T (p.His9Tyr)	ACOT2, HEATR4 (H9Y)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2489609	NM_006821.6(ACOT2):c.41T>G (p.Val14Gly)	ACOT2, HEATR4 (V14G)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2569258	NM_006821.6(ACOT2):c.63G>T (p.Met21Ile)	ACOT2, HEATR4 (M21I)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3137679	NM_006821.6(ACOT2):c.218G>A (p.Gly73Asp)	ACOT2, HEATR4 (G73D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553131	NM_006821.6(ACOT2):c.242T>G (p.Val81Gly)	ACOT2, HEATR4 (V81G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137687	NM_006821.6(ACOT2):c.263T>C (p.Leu88Pro)	ACOT2, HEATR4 (L88P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592216	NM_006821.6(ACOT2):c.332A>G (p.His111Arg)	ACOT2, HEATR4 (H111R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3261920	NM_006821.6(ACOT2):c.350A>G (p.Asp117Gly)	ACOT2, HEATR4 (D117G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531617	NM_006821.6(ACOT2):c.365T>G (p.Leu122Arg)	ACOT2, HEATR4 (L122R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335546	NM_006821.6(ACOT2):c.397A>C (p.Ser133Arg)	ACOT2, HEATR4 (S133R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335547	NM_006821.6(ACOT2):c.398G>T (p.Ser133Ile)	ACOT2, HEATR4 (S133I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485828	NM_006821.6(ACOT2):c.428T>C (p.Leu143Pro)	ACOT2, HEATR4 (L143P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137711	NM_006821.6(ACOT2):c.432G>C (p.Trp144Cys)	ACOT2, HEATR4 (W144C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353931	NM_006821.6(ACOT2):c.447G>T (p.Glu149Asp)	ACOT2, HEATR4 (E149D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601658	NM_006821.6(ACOT2):c.454T>G (p.Leu152Val)	ACOT2, HEATR4 (L152V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137718	NM_006821.6(ACOT2):c.473G>T (p.Arg158Leu)	ACOT2, HEATR4 (R158L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321736	NM_006821.6(ACOT2):c.539G>A (p.Arg180Gln)	ACOT2, HEATR4 (R180Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490836	NM_006821.6(ACOT2):c.551A>C (p.Gln184Pro)	ACOT2, HEATR4 (Q184P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3261930	NM_006821.6(ACOT2):c.554C>G (p.Thr185Arg)	ACOT2, HEATR4 (T185R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137730	NM_006821.6(ACOT2):c.578C>T (p.Pro193Leu)	ACOT2, HEATR4 (P193L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137733	NM_006821.6(ACOT2):c.581C>G (p.Pro194Arg)	ACOT2, HEATR4 (P194R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3261942	NM_006821.6(ACOT2):c.674T>A (p.Met225Lys)	ACOT2, HEATR4 (M28K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137740	NM_006821.6(ACOT2):c.679G>A (p.Gly227Arg)	ACOT2, HEATR4 (G227R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226456	NM_006821.6(ACOT2):c.691G>A (p.Gly231Ser)	ACOT2, HEATR4 (G231S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454990	NM_006821.6(ACOT2):c.706C>T (p.Arg236Trp)	ACOT2, HEATR4 (R39W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137744	NM_006821.6(ACOT2):c.758A>G (p.Tyr253Cys)	ACOT2, HEATR4 (Y253C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551858	NM_006821.6(ACOT2):c.799C>A (p.Leu267Met)	ACOT2, HEATR4 (L70M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137749	NM_006821.6(ACOT2):c.820A>G (p.Met274Val)	ACOT2, HEATR4 (M274V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2465279	NM_006821.6(ACOT2):c.860G>A (p.Gly287Glu)	ACOT2, HEATR4 (G287E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281717	NM_006821.6(ACOT2):c.865G>A (p.Gly289Arg)	ACOT2, HEATR4 (G289R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3261953	NM_006821.6(ACOT2):c.911C>T (p.Ala304Val)	ACOT2, HEATR4 (A304V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513836	NM_006821.6(ACOT2):c.968T>C (p.Val323Ala)	ACOT2, HEATR4 (V126A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 684519	NM_006821.6(ACOT2):c.983A>G (p.His328Arg)	ACOT2, HEATR4 (H131R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2475609	NM_006821.6(ACOT2):c.1006C>G (p.Pro336Ala)	ACOT2, HEATR4 (P139A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3261961	NM_006821.6(ACOT2):c.1036G>A (p.Val346Met)	ACOT2, HEATR4 (V149M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2209113	NM_006821.6(ACOT2):c.1169A>G (p.Asn390Ser)	ACOT2, HEATR4 (N193S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137646	NM_006821.6(ACOT2):c.1221T>A (p.His407Gln)	ACOT2, HEATR4 (H407Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365556	NM_006821.6(ACOT2):c.1287C>A (p.Phe429Leu)	ACOT2, HEATR4 (F429L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293325	NM_006821.6(ACOT2):c.1292T>C (p.Leu431Pro)	ACOT2, HEATR4 (L234P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137654	NM_006821.6(ACOT2):c.1325G>T (p.Ser442Ile)	ACOT2, HEATR4 (S442I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401280	NM_006821.6(ACOT2):c.1334T>C (p.Ile445Thr)	ACOT2, HEATR4 (I248T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137662	NM_006821.6(ACOT2):c.1354G>A (p.Ala452Thr)	ACOT2, HEATR4 (A452T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491302	NM_006821.6(ACOT2):c.1355C>T (p.Ala452Val)	ACOT2, HEATR4 (A452V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137668	NM_006821.6(ACOT2):c.1363A>G (p.Met455Val)	ACOT2, HEATR4 (M258V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553071	NM_006821.6(ACOT2):c.1387C>G (p.Gln463Glu)	ACOT2, HEATR4 (Q266E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137672	NM_006821.6(ACOT2):c.1423C>T (p.His475Tyr)	ACOT2, HEATR4 (H475Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137675	NM_006821.6(ACOT2):c.1426G>A (p.Glu476Lys)	ACOT2, HEATR4 (E279K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3137678	NM_006821.6(ACOT2):c.1435A>G (p.Ile479Val)	ACOT2, HEATR4 (I479V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	CCNK, MIR376A1 +353 more	Copy number gain	not provided	GPathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
Select item 1162192	GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3	ISCA2, TMEM30B +158 more	Copy number gain	14q22.2q24.3 duplication	GLikely pathogenic
Select item 625564	GRCh37/hg19 14q24.3(chr14:74040231-76368547)	ABCD4, ACOT2 +38 more	Copy number loss	not provided	GLikely pathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 442718	GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3	ABCD4, ACOT1 +261 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic
Select item 394666	GRCh37/hg19 14q24.3(chr14:74008382-74042276)x1	ACOT1, ACOT2 +1 more	Copy number loss	See cases	GBenign
Select item 394540	GRCh37/hg19 14q24.3(chr14:74008382-74040262)x1	HEATR4, ACOT1 +1 more	Copy number loss	See cases	GLikely benign
Select item 394508	GRCh37/hg19 14q24.3(chr14:74004581-74040262)x1	ACOT1, ACOT2 +1 more	Copy number loss	See cases	GBenign
Select item 208506	GRCh37/hg19 14q24.2-q24.3(chr14:73152115..77698582)	ACOT6, ACYP1 +59 more	Deletion	Multiple skeletal anomalies +3 more	GLikely pathogenic

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Items: 64