ClinVar for Gene (Select 31) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 400

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3358815	NM_198834.3(ACACA):c.2094del (p.Pro699fs)	ACACA (P584fs +3 more)	Deletion (frameshift variant)	ACACA-related disorder	GUncertain significance
Select item 3338433	GRCh37/hg19 17q12(chr17:34842442-36065085)x3	AATF, ACACA +13 more	Copy number gain	Hyperphosphatasia with intellectual disability syndrome 5	GLikely pathogenic
Select item 3260377	NM_198834.3(ACACA):c.185C>G (p.Ser62Cys)	ACACA (S62C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260368	NM_198834.3(ACACA):c.6908A>G (p.Asn2303Ser)	ACACA (N2208S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260362	NM_198834.3(ACACA):c.5554A>G (p.Ile1852Val)	ACACA (I1737V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260361	NM_198834.3(ACACA):c.2339G>C (p.Cys780Ser)	ACACA (C685S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260356	NM_198834.3(ACACA):c.5092G>A (p.Ala1698Thr)	ACACA (A1583T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260354	NM_198834.3(ACACA):c.3272C>T (p.Thr1091Ile)	ACACA (T976I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260353	NM_198834.3(ACACA):c.171A>G (p.Ile57Met)	ACACA (I20M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260344	NM_198834.3(ACACA):c.2983C>T (p.Arg995Trp)	ACACA (R995W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260333	NM_198834.3(ACACA):c.2069A>T (p.His690Leu)	ACACA (H575L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260323	NM_198834.3(ACACA):c.6491A>G (p.Lys2164Arg)	ACACA (K2049R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3251576	NM_198834.3(ACACA):c.6453-13C>A	ACACA	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3148907	GRCh37/hg19 17q12(chr17:34822466-36378678)x1	AATF, ACACA +15 more	Copy number loss	See cases	GPathogenic
Select item 3148903	GRCh37/hg19 17q12(chr17:34822466-36307773)x1	AATF, ACACA +14 more	Copy number loss	See cases	GPathogenic
Select item 3133571	NM_198834.3(ACACA):c.983T>G (p.Val328Gly)	ACACA (V233G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133565	NM_198834.3(ACACA):c.928G>T (p.Asp310Tyr)	ACACA (D273Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133529	NM_198834.3(ACACA):c.5392G>A (p.Val1798Ile)	ACACA (V1761I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133495	NM_198834.3(ACACA):c.3896A>G (p.Gln1299Arg)	ACACA (Q1299R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133484	NM_198834.3(ACACA):c.3874T>A (p.Cys1292Ser)	ACACA (C1177S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133480	NM_198834.3(ACACA):c.3847G>A (p.Val1283Ile)	ACACA (V1188I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133472	NM_198834.3(ACACA):c.3209A>C (p.Gln1070Pro)	ACACA (Q1033P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133462	NM_198834.3(ACACA):c.2636C>T (p.Thr879Met)	ACACA (T879M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133445	NM_198834.3(ACACA):c.1841C>T (p.Ala614Val)	ACACA (A577V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063508	GRCh37/hg19 17q12(chr17:35010975-35932571)x3	AATF, ACACA +5 more	Copy number gain	not specified	GUncertain significance
Select item 3063498	GRCh37/hg19 17q12(chr17:34425362-36371146)x3	AATF, ACACA +23 more	Copy number gain	not specified	GPathogenic
Select item 3056885	NM_198834.3(ACACA):c.5202G>A (p.Leu1734=)	ACACA	Single nucleotide variant (synonymous variant)	ACACA-related disorder	GLikely benign
Select item 3052495	NM_198834.3(ACACA):c.2367G>A (p.Ser789=)	ACACA	Single nucleotide variant (synonymous variant)	ACACA-related disorder	GLikely benign
Select item 3047610	NM_198834.3(ACACA):c.4324C>G (p.Leu1442Val)	ACACA (L1327V +3 more)	Single nucleotide variant (missense variant)	ACACA-related disorder	GLikely benign
Select item 3047451	NM_198834.3(ACACA):c.5574G>A (p.Thr1858=)	ACACA	Single nucleotide variant (synonymous variant)	ACACA-related disorder	GLikely benign
Select item 3047022	NM_198834.3(ACACA):c.6534C>T (p.Asp2178=)	ACACA	Single nucleotide variant (synonymous variant)	ACACA-related disorder	GLikely benign
Select item 3043663	NM_198834.3(ACACA):c.5001C>T (p.Asp1667=)	ACACA	Single nucleotide variant (synonymous variant)	ACACA-related disorder	GLikely benign
Select item 3043586	NM_198834.3(ACACA):c.5569-10C>G	ACACA	Single nucleotide variant (intron variant)	ACACA-related disorder	GLikely benign
Select item 3042828	NM_198834.3(ACACA):c.2970C>T (p.Asn990=)	ACACA	Single nucleotide variant (synonymous variant)	ACACA-related disorder	GLikely benign
Select item 3042266	NM_198834.3(ACACA):c.4777-8del	ACACA	Deletion (intron variant)	ACACA-related disorder	GLikely benign
Select item 3040867	NM_198834.3(ACACA):c.6024G>C (p.Val2008=)	ACACA	Single nucleotide variant (synonymous variant)	ACACA-related disorder	GLikely benign
Select item 3024382	GRCh38/hg38 17q12(chr17:36466109-37946106)	AATF, ACACA +34 more	Copy number loss	Autism spectrum disorder	GPathogenic
Select item 3022984	NM_198834.3(ACACA):c.314A>T (p.Gln105Leu)	ACACA (Q105L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3022505	NM_198834.3(ACACA):c.3617G>A (p.Arg1206His)	ACACA (R1206H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3021949	NM_198834.3(ACACA):c.5447+14T>C	ACACA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021601	NM_198834.3(ACACA):c.2163+14C>A	ACACA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3021287	NM_198834.3(ACACA):c.3558T>G (p.Ala1186=)	ACACA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3020903	NM_198834.3(ACACA):c.1178G>A (p.Arg393His)	ACACA (R393H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3009326	NM_198834.3(ACACA):c.1995C>T (p.Thr665=)	ACACA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003525	NM_198834.3(ACACA):c.5824-20C>T	ACACA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001182	NM_198834.3(ACACA):c.6969G>A (p.Ser2323=)	ACACA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001168	NM_198834.3(ACACA):c.7118G>A (p.Arg2373Gln)	ACACA (R2373Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3000539	NM_198834.3(ACACA):c.2625G>C (p.Arg875=)	ACACA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996015	NM_198834.3(ACACA):c.3901C>G (p.Pro1301Ala)	ACACA (P1206A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2991979	NM_198834.3(ACACA):c.786T>C (p.Asn262=)	ACACA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990723	NM_198834.3(ACACA):c.6210C>T (p.Phe2070=)	ACACA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987855	NM_198834.3(ACACA):c.7028+11C>T	ACACA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978608	NM_198834.3(ACACA):c.4158+16A>C	ACACA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975396	NM_198834.3(ACACA):c.3247-16T>G	ACACA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975395	NM_198834.3(ACACA):c.3247-6A>G	ACACA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971540	NM_198834.3(ACACA):c.3474+2TA[8]	ACACA	Microsatellite (splice donor variant)	not provided	GLikely benign
Select item 2969497	NM_198834.3(ACACA):c.6275-6C>T	ACACA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968978	NM_198834.3(ACACA):c.2233C>T (p.Arg745Trp)	ACACA (R630W +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2968363	NM_198834.3(ACACA):c.6042-14T>C	ACACA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967853	NM_198834.3(ACACA):c.7080G>C (p.Thr2360=)	ACACA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2964740	NM_198834.3(ACACA):c.4148G>A (p.Arg1383Gln)	ACACA (R1346Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2964064	NM_198834.3(ACACA):c.2394G>A (p.Lys798=)	ACACA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2963838	NM_198834.3(ACACA):c.6033T>C (p.Gly2011=)	ACACA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2963560	NM_198834.3(ACACA):c.5708A>G (p.Asn1903Ser)	ACACA (N1808S +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2961433	NM_198834.3(ACACA):c.6275-16G>T	ACACA	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2960348	NM_198834.3(ACACA):c.5679+10T>C	ACACA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959895	NM_198834.3(ACACA):c.768G>A (p.Pro256=)	ACACA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2959893	NM_198834.3(ACACA):c.1902G>A (p.Leu634=)	ACACA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2959450	NM_198834.3(ACACA):c.5700C>T (p.Tyr1900=)	ACACA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2959426	NM_198834.3(ACACA):c.7014C>T (p.Leu2338=)	ACACA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2957828	NM_198834.3(ACACA):c.4497C>T (p.Asn1499=)	ACACA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2956883	NM_198834.3(ACACA):c.3204C>T (p.His1068=)	ACACA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2956717	NM_198834.3(ACACA):c.2025C>T (p.His675=)	ACACA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2956366	NM_198834.3(ACACA):c.5685C>T (p.Leu1895=)	ACACA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2954715	NM_198834.3(ACACA):c.7008C>T (p.Tyr2336=)	ACACA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2859629	NM_198834.3(ACACA):c.2901A>G (p.Thr967=)	ACACA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2857284	NM_198834.3(ACACA):c.4777-9T>G	ACACA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2851288	NM_198834.3(ACACA):c.901+7A>G	ACACA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2841976	NM_198834.3(ACACA):c.2637G>T (p.Thr879=)	ACACA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2818139	NM_198834.3(ACACA):c.4440A>G (p.Gln1480=)	ACACA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2811616	NM_198834.3(ACACA):c.3229C>T (p.Leu1077=)	ACACA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2807296	NM_198834.3(ACACA):c.902-15T>A	ACACA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2804353	NM_198834.3(ACACA):c.225G>T (p.Lys75Asn)	ACACA (K38N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2796363	NM_198834.3(ACACA):c.802+10T>A	ACACA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2792877	NM_198834.3(ACACA):c.6042-3C>T	ACACA	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2787038	NM_198834.3(ACACA):c.5134C>T (p.Arg1712Ter)	ACACA (R1597* +3 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2786217	NM_198834.3(ACACA):c.2542C>A (p.Pro848Thr)	ACACA (P753T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2783953	NM_198834.3(ACACA):c.6876G>A (p.Val2292=)	ACACA, LOC126862545	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2781203	NM_198834.3(ACACA):c.6577C>G (p.Leu2193Val)	ACACA (L2098V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2762582	NM_198834.3(ACACA):c.2207G>A (p.Gly736Asp)	ACACA (G736D +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2761361	NM_198834.3(ACACA):c.4049A>C (p.Gln1350Pro)	ACACA (Q1350P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2760139	NM_198834.3(ACACA):c.1329+3A>G	ACACA	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2759711	NM_198834.3(ACACA):c.3077A>T (p.Asp1026Val)	ACACA (D931V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2724104	NM_198834.3(ACACA):c.1070G>A (p.Gly357Glu)	ACACA (G242E +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2719037	NM_198834.3(ACACA):c.216C>T (p.Asn72=)	ACACA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2710526	NM_198834.3(ACACA):c.4114-10_4114-6del	ACACA	Deletion (intron variant)	not provided	GLikely benign
Select item 2684846	GRCh37/hg19 17q12(chr17:34440083-36410559)x3	AATF, ACACA +22 more	Copy number gain	not provided	GPathogenic
Select item 2683417	NM_198834.3(ACACA):c.6720+2dup	ACACA	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 2671580	Single allele	AATF, ACACA +13 more	Deletion	not provided	GPathogenic

<< First< Prev

Page of 4