ClinVar for Gene (Select 32) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3352739	NM_001093.4(ACACB):c.7225G>A (p.Asp2409Asn)	ACACB (D2144N +3 more)	Single nucleotide variant (missense variant)	ACACB-related disorder	GLikely benign
Select item 3352314	NM_001093.4(ACACB):c.804C>T (p.Asn268=)	ACACB	Single nucleotide variant (synonymous variant)	ACACB-related disorder	GLikely benign
Select item 3349599	NM_001093.4(ACACB):c.3758T>C (p.Met1253Thr)	ACACB (M1044T +3 more)	Single nucleotide variant (missense variant)	ACACB-related disorder	GUncertain significance
Select item 3260531	NM_001093.4(ACACB):c.6934G>A (p.Val2312Ile)	ACACB, LOC130008714 (V2047I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260522	NM_001093.4(ACACB):c.2633G>A (p.Arg878Gln)	ACACB (R669Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260511	NM_001093.4(ACACB):c.6867C>G (p.Ile2289Met)	ACACB, LOC130008714 (I2087M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260503	NM_001093.4(ACACB):c.3838T>A (p.Phe1280Ile)	ACACB (F1071I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260492	NM_001093.4(ACACB):c.5611A>G (p.Arg1871Gly)	ACACB (R1606G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260483	NM_001093.4(ACACB):c.4252G>A (p.Glu1418Lys)	ACACB (E1209K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260472	NM_001093.4(ACACB):c.4258A>C (p.Ile1420Leu)	ACACB (I1420L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260462	NM_001093.4(ACACB):c.6091G>A (p.Asp2031Asn)	ACACB (D1822N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260453	NM_001093.4(ACACB):c.2657G>C (p.Cys886Ser)	ACACB (C677S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260450	NM_001093.4(ACACB):c.7037C>G (p.Ala2346Gly)	ACACB (A2144G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260444	NM_001093.4(ACACB):c.4210A>G (p.Thr1404Ala)	ACACB (T1139A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260440	NM_001093.4(ACACB):c.5619C>G (p.Ser1873Arg)	ACACB (S1671R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260435	NM_001093.4(ACACB):c.2644G>A (p.Gly882Ser)	ACACB (G882S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260429	NM_001093.4(ACACB):c.6667G>C (p.Glu2223Gln)	ACACB (E1958Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260424	NM_001093.4(ACACB):c.1496G>A (p.Arg499His)	ACACB (R297H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260418	NM_001093.4(ACACB):c.640G>A (p.Val214Ile)	ACACB (V214I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3260416	NM_001093.4(ACACB):c.2353G>C (p.Ala785Pro)	ACACB (A576P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260413	NM_001093.4(ACACB):c.389C>G (p.Thr130Ser)	ACACB (T130S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3260412	NM_001093.4(ACACB):c.322G>A (p.Asp108Asn)	ACACB (D108N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3260410	NM_001093.4(ACACB):c.5479G>A (p.Val1827Met)	ACACB (V1618M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260408	NM_001093.4(ACACB):c.2024G>A (p.Arg675Gln)	ACACB (R473Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260407	NM_001093.4(ACACB):c.764G>C (p.Gly255Ala)	ACACB (G53A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260406	NM_001093.4(ACACB):c.2093C>T (p.Ser698Phe)	ACACB (S496F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260404	NM_001093.4(ACACB):c.3097C>T (p.Arg1033Trp)	ACACB (R1033W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3260387	NM_001093.4(ACACB):c.7097C>T (p.Thr2366Met)	ACACB (T2157M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260382	NM_001093.4(ACACB):c.6844C>T (p.Arg2282Cys)	ACACB (R2080C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134127	NM_001093.4(ACACB):c.838C>T (p.Arg280Cys)	ACACB (R280C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134116	NM_001093.4(ACACB):c.737C>T (p.Ser246Phe)	ACACB (S37F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134092	NM_001093.4(ACACB):c.7227C>G (p.Asp2409Glu)	ACACB (D2207E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134088	NM_001093.4(ACACB):c.7221G>T (p.Lys2407Asn)	ACACB (K2205N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134084	NM_001093.4(ACACB):c.7193C>G (p.Thr2398Ser)	ACACB (T2189S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134074	NM_001093.4(ACACB):c.7079G>A (p.Arg2360His)	ACACB (R2095H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134057	NM_001093.4(ACACB):c.6967C>T (p.Arg2323Cys)	ACACB (R2058C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134035	NM_001093.4(ACACB):c.6777G>C (p.Met2259Ile)	ACACB (M1994I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134026	NM_001093.4(ACACB):c.6631A>T (p.Ile2211Phe)	ACACB (I2211F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134022	NM_001093.4(ACACB):c.6598C>T (p.Arg2200Trp)	ACACB (R2200W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134009	NM_001093.4(ACACB):c.6390C>G (p.Phe2130Leu)	ACACB (F2130L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134006	NM_001093.4(ACACB):c.637C>T (p.Arg213Cys)	ACACB (R213C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3134002	NM_001093.4(ACACB):c.6323T>G (p.Val2108Gly)	ACACB (V1899G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133999	NM_001093.4(ACACB):c.6316G>A (p.Val2106Met)	ACACB (V1897M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133972	NM_001093.4(ACACB):c.5728G>T (p.Gly1910Cys)	ACACB (G1645C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133951	NM_001093.4(ACACB):c.5393G>A (p.Arg1798His)	ACACB (R1533H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133941	NM_001093.4(ACACB):c.5383A>G (p.Ile1795Val)	ACACB (I1586V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133931	NM_001093.4(ACACB):c.532G>C (p.Asp178His)	ACACB (D178H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133906	NM_001093.4(ACACB):c.5075T>C (p.Ile1692Thr)	ACACB (I1483T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133882	NM_001093.4(ACACB):c.4934T>C (p.Val1645Ala)	ACACB (V1380A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133856	NM_001093.4(ACACB):c.4573G>A (p.Gly1525Ser)	ACACB (G1323S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133846	NM_001093.4(ACACB):c.4469G>A (p.Arg1490His)	ACACB (R1225H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133840	NM_001093.4(ACACB):c.4376G>A (p.Arg1459Gln)	ACACB (R1250Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133836	NM_001093.4(ACACB):c.4343C>A (p.Ser1448Tyr)	ACACB (S1239Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133825	NM_001093.4(ACACB):c.4253A>G (p.Glu1418Gly)	ACACB (E1153G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133819	NM_001093.4(ACACB):c.4072G>A (p.Gly1358Ser)	ACACB (G1156S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133803	NM_001093.4(ACACB):c.3934C>T (p.Arg1312Trp)	ACACB (R1047W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133799	NM_001093.4(ACACB):c.3907G>A (p.Ala1303Thr)	ACACB (A1038T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133785	NM_001093.4(ACACB):c.3751A>G (p.Ile1251Val)	ACACB (I1042V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133780	NM_001093.4(ACACB):c.3598G>T (p.Asp1200Tyr)	ACACB (D1200Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133750	NM_001093.4(ACACB):c.3334G>A (p.Val1112Met)	ACACB (V1112M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133733	NM_001093.4(ACACB):c.3033T>G (p.Cys1011Trp)	ACACB (C809W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133724	NM_001093.4(ACACB):c.2910C>A (p.His970Gln)	ACACB (H761Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133715	NM_001093.4(ACACB):c.266G>T (p.Arg89Ile)	ACACB (R89I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133713	NM_001093.4(ACACB):c.2626A>G (p.Ser876Gly)	ACACB (S674G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133685	NM_001093.4(ACACB):c.2462G>T (p.Gly821Val)	ACACB (G612V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133678	NM_001093.4(ACACB):c.2437G>A (p.Val813Ile)	ACACB (V604I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133675	NM_001093.4(ACACB):c.2332G>A (p.Gly778Arg)	ACACB (G778R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133668	NM_001093.4(ACACB):c.226C>T (p.Pro76Ser)	ACACB (P76S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133658	NM_001093.4(ACACB):c.2254G>A (p.Asp752Asn)	ACACB (D543N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133630	NM_001093.4(ACACB):c.1883G>T (p.Trp628Leu)	ACACB (W426L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133614	NM_001093.4(ACACB):c.1460C>T (p.Ser487Leu)	ACACB (S285L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133609	NM_001093.4(ACACB):c.1319G>C (p.Gly440Ala)	ACACB (G231A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133603	NM_001093.4(ACACB):c.128C>T (p.Pro43Leu)	ACACB (P43L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3133585	NM_001093.4(ACACB):c.1073C>G (p.Pro358Arg)	ACACB (P149R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133582	NM_001093.4(ACACB):c.1072C>T (p.Pro358Ser)	ACACB (P156S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3064854	NM_001093.4(ACACB):c.653+8177G>T	ACACB	Single nucleotide variant (intron variant)	High density lipoprotein cholesterol level quantitative trait locus 6	GLikely benign
Select item 3058744	NM_001093.4(ACACB):c.3792+8C>G	ACACB	Single nucleotide variant (intron variant)	ACACB-related disorder	GLikely benign
Select item 3058139	NM_001093.4(ACACB):c.3957C>T (p.Cys1319=)	ACACB	Single nucleotide variant (synonymous variant)	ACACB-related disorder	GLikely benign
Select item 3057955	NM_001093.4(ACACB):c.3162C>T (p.Pro1054=)	ACACB	Single nucleotide variant (synonymous variant +1 more)	ACACB-related disorder	GLikely benign
Select item 3055116	NM_001093.4(ACACB):c.4140-10G>T	ACACB	Single nucleotide variant (intron variant)	ACACB-related disorder	GLikely benign
Select item 3055030	NM_001093.4(ACACB):c.4239+7G>A	ACACB	Single nucleotide variant (intron variant)	ACACB-related disorder	GLikely benign
Select item 3054364	NM_001093.4(ACACB):c.1422G>C (p.Pro474=)	ACACB	Single nucleotide variant (synonymous variant)	ACACB-related disorder	GLikely benign
Select item 3054345	NM_001093.4(ACACB):c.4854C>T (p.Tyr1618=)	ACACB	Single nucleotide variant (synonymous variant)	ACACB-related disorder	GLikely benign
Select item 3052834	NM_001093.4(ACACB):c.3948C>T (p.Asp1316=)	ACACB	Single nucleotide variant (synonymous variant)	ACACB-related disorder	GLikely benign
Select item 3052148	NM_001093.4(ACACB):c.1980+9T>G	ACACB	Single nucleotide variant (intron variant)	ACACB-related disorder	GLikely benign
Select item 3051356	NM_001093.4(ACACB):c.1117+3A>G	ACACB	Single nucleotide variant (intron variant)	ACACB-related disorder	GLikely benign
Select item 3051352	NM_001093.4(ACACB):c.1491C>T (p.His497=)	ACACB	Single nucleotide variant (synonymous variant)	ACACB-related disorder	GLikely benign
Select item 3049810	NM_001093.4(ACACB):c.6015C>T (p.Thr2005=)	ACACB	Single nucleotide variant (synonymous variant)	ACACB-related disorder	GLikely benign
Select item 3049102	NM_001093.4(ACACB):c.656C>T (p.Pro219Leu)	ACACB (P10L +2 more)	Single nucleotide variant (missense variant)	ACACB-related disorder	GLikely benign
Select item 3048560	NM_001093.4(ACACB):c.4125C>T (p.Phe1375=)	ACACB	Single nucleotide variant (synonymous variant)	ACACB-related disorder	GLikely benign
Select item 3048444	NM_001093.4(ACACB):c.6787+6G>A	ACACB	Single nucleotide variant (intron variant)	ACACB-related disorder	GLikely benign
Select item 3047977	NM_001093.4(ACACB):c.1173C>T (p.Val391=)	ACACB	Single nucleotide variant (synonymous variant)	ACACB-related disorder	GLikely benign
Select item 3047386	NM_001093.4(ACACB):c.1819-7A>G	ACACB	Single nucleotide variant (intron variant)	ACACB-related disorder	GLikely benign
Select item 3045343	NM_001093.4(ACACB):c.4822G>A (p.Glu1608Lys)	ACACB (E1343K +3 more)	Single nucleotide variant (missense variant)	ACACB-related disorder	GUncertain significance
Select item 3044672	NM_001093.4(ACACB):c.5279A>G (p.Asn1760Ser)	ACACB (N1495S +3 more)	Single nucleotide variant (missense variant)	ACACB-related disorder	GLikely benign
Select item 3044486	NM_001093.4(ACACB):c.566G>A (p.Arg189Gln)	ACACB (R189Q)	Single nucleotide variant (missense variant +1 more)	ACACB-related disorder	GLikely benign
Select item 3044300	NM_001093.4(ACACB):c.6180G>A (p.Thr2060=)	ACACB	Single nucleotide variant (synonymous variant)	ACACB-related disorder	GLikely benign
Select item 3042940	NM_001093.4(ACACB):c.4447-9C>T	ACACB	Single nucleotide variant (intron variant)	ACACB-related disorder	GLikely benign
Select item 3042704	NM_001093.4(ACACB):c.5559A>G (p.Glu1853=)	ACACB	Single nucleotide variant (synonymous variant)	ACACB-related disorder	GLikely benign
Select item 3041785	NM_001093.4(ACACB):c.*9C>T	ACACB	Single nucleotide variant (3 prime UTR variant)	ACACB-related disorder	GLikely benign

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