ClinVar for Gene (Select 8694) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064193	NM_012079.6(DGAT1):c.836T>C (p.Leu279Pro)	DGAT1 (L279P)	Single nucleotide variant (missense variant)	Congenital diarrhea 7 with exudative enteropathy	GUncertain significance
Select item 3063034	GRCh37/hg19 8q24.3(chr8:144090414-145900544)x3	ADCK5, ARHGAP39 +63 more	Copy number gain	not specified	GUncertain significance
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3058874	NM_012079.6(DGAT1):c.612C>G (p.Leu204=)	DGAT1	Single nucleotide variant (synonymous variant)	DGAT1-related condition	GLikely benign
Select item 3024645	GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3	LY6E, LY6H +173 more	Copy number gain	not provided	GPathogenic
Select item 3022815	NM_012079.6(DGAT1):c.972G>A (p.Leu324=)	DGAT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3022534	NM_012079.6(DGAT1):c.45G>A (p.Arg15=)	DGAT1, LOC130001386	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021600	NM_012079.6(DGAT1):c.982-14C>T	DGAT1, LOC130001383	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021275	NM_012079.6(DGAT1):c.1249-14C>G	DGAT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020280	NM_012079.6(DGAT1):c.481G>C (p.Glu161Gln)	DGAT1 (E161Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3020192	NM_012079.6(DGAT1):c.1267C>T (p.Leu423=)	DGAT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015884	NM_012079.6(DGAT1):c.1094+9C>T	DGAT1, LOC130001383	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3015327	NM_012079.6(DGAT1):c.416-6C>T	DGAT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3014993	NM_012079.6(DGAT1):c.415+9G>C	DGAT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3012206	NM_012079.6(DGAT1):c.751+8C>T	DGAT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010332	NM_012079.6(DGAT1):c.1263C>T (p.Val421=)	DGAT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010119	NM_012079.6(DGAT1):c.834G>A (p.Leu278=)	DGAT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009598	NM_012079.6(DGAT1):c.200+13C>A	DGAT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007957	NM_012079.6(DGAT1):c.1380G>A (p.Ser460=)	DGAT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007039	NM_012079.6(DGAT1):c.1161-15C>T	DGAT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006971	NM_012079.6(DGAT1):c.894+13_894+14insCT	DGAT1	Insertion (intron variant)	not provided	GLikely benign
Select item 3005379	NM_012079.6(DGAT1):c.856-17_856-14del	DGAT1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 3005153	NM_012079.6(DGAT1):c.1239C>T (p.Phe413=)	DGAT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004980	NM_012079.6(DGAT1):c.1312-12C>T	DGAT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004786	NM_012079.6(DGAT1):c.982-5G>C	DGAT1, LOC130001383	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004074	NM_012079.6(DGAT1):c.289-11A>G	DGAT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3003793	NM_012079.6(DGAT1):c.396C>T (p.Pro132=)	DGAT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002480	NM_012079.6(DGAT1):c.1227G>A (p.Leu409=)	DGAT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000656	NM_012079.6(DGAT1):c.1074G>C (p.Arg358=)	DGAT1, LOC130001383	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000468	NM_012079.6(DGAT1):c.200+20C>G	DGAT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000461	NM_012079.6(DGAT1):c.1152G>A (p.Trp384Ter)	DGAT1 (W384*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2999250	NM_012079.6(DGAT1):c.288+11_288+23del	DGAT1	Deletion (intron variant)	not provided	GLikely benign
Select item 2999070	NM_012079.6(DGAT1):c.1160+19T>C	DGAT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998999	NM_012079.6(DGAT1):c.31A>C (p.Arg11=)	DGAT1, LOC130001386	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998774	NM_012079.6(DGAT1):c.329+17G>T	DGAT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998735	NM_012079.6(DGAT1):c.1161-19del	DGAT1	Deletion (intron variant)	not provided	GLikely benign
Select item 2998709	NM_012079.6(DGAT1):c.553C>T (p.Leu185=)	DGAT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997257	NM_012079.6(DGAT1):c.856-5C>G	DGAT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997106	NM_012079.6(DGAT1):c.1161-17T>C	DGAT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996080	NM_012079.6(DGAT1):c.729C>T (p.Tyr243=)	DGAT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995902	NM_012079.6(DGAT1):c.528G>A (p.Leu176=)	DGAT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995254	NM_012079.6(DGAT1):c.339C>T (p.Ile113=)	DGAT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994653	NM_012079.6(DGAT1):c.856-5C>A	DGAT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994363	NM_012079.6(DGAT1):c.369G>A (p.Leu123=)	DGAT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993864	NM_012079.6(DGAT1):c.330-7C>A	DGAT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992234	NM_012079.6(DGAT1):c.856-19C>T	DGAT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992024	NM_012079.6(DGAT1):c.1095-10T>C	DGAT1, MIR6848	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2990676	NM_012079.6(DGAT1):c.895-19G>A	DGAT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989539	NM_012079.6(DGAT1):c.981+20G>A	DGAT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989524	NM_012079.6(DGAT1):c.1026C>T (p.Phe342=)	DGAT1, LOC130001383	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988951	NM_012079.6(DGAT1):c.516G>A (p.Leu172=)	DGAT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987629	NM_012079.6(DGAT1):c.574+10dup	DGAT1	Duplication (intron variant)	not provided	GBenign
Select item 2987579	NM_012079.6(DGAT1):c.1094+18G>A	DGAT1, LOC130001383 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2986679	NM_012079.6(DGAT1):c.856-4C>G	DGAT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984055	NM_012079.6(DGAT1):c.906C>T (p.Pro302=)	DGAT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983985	NM_012079.6(DGAT1):c.1249-15T>C	DGAT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983816	NM_012079.6(DGAT1):c.677-19C>T	DGAT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983498	NM_012079.6(DGAT1):c.752-14C>G	DGAT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978405	NM_012079.6(DGAT1):c.1419C>T (p.Val473=)	DGAT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2978053	NM_012079.6(DGAT1):c.948C>T (p.Tyr316=)	DGAT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977275	NM_012079.6(DGAT1):c.288+20G>A	DGAT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977268	NM_012079.6(DGAT1):c.1249-13C>T	DGAT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977249	NM_012079.6(DGAT1):c.63C>T (p.Gly21=)	DGAT1, LOC130001386	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976431	NM_012079.6(DGAT1):c.1161-5T>C	DGAT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973021	NM_012079.6(DGAT1):c.42G>A (p.Ser14=)	DGAT1, LOC130001386	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972607	NM_012079.6(DGAT1):c.752-19C>T	DGAT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971545	NM_012079.6(DGAT1):c.894+15G>T	DGAT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969446	NM_012079.6(DGAT1):c.856-10T>C	DGAT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969299	NM_012079.6(DGAT1):c.714G>A (p.Pro238=)	DGAT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2968766	NM_012079.6(DGAT1):c.416-10C>G	DGAT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966571	NM_012079.6(DGAT1):c.1311+11C>T	DGAT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965514	NM_012079.6(DGAT1):c.1248+8C>T	DGAT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965212	NM_012079.6(DGAT1):c.752-14C>T	DGAT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963050	NM_012079.6(DGAT1):c.489G>A (p.Ala163=)	DGAT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2960611	NM_012079.6(DGAT1):c.981+8C>T	DGAT1	Single nucleotide variant (intron variant)	DGAT1-related condition +1 more	GLikely benign
Select item 2960485	NM_012079.6(DGAT1):c.771C>T (p.Phe257=)	DGAT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2960389	NM_012079.6(DGAT1):c.1016A>T (p.Tyr339Phe)	DGAT1, LOC130001383 (Y339F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2959906	NM_012079.6(DGAT1):c.534C>T (p.Phe178=)	DGAT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2958472	NM_012079.6(DGAT1):c.423T>C (p.Asn141=)	DGAT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2958133	NM_012079.6(DGAT1):c.1101C>T (p.Ser367=)	DGAT1, MIR6848	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2957282	NM_012079.6(DGAT1):c.982-17C>A	DGAT1, LOC130001383	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956108	NM_012079.6(DGAT1):c.574+9C>T	DGAT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955867	NM_012079.6(DGAT1):c.69_82del (p.Pro24fs)	DGAT1, LOC130001386 (P24fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2915916	NM_012079.6(DGAT1):c.574+1G>A	DGAT1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2912267	NM_012079.6(DGAT1):c.574+8C>A	DGAT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2906912	NM_012079.6(DGAT1):c.289-8C>T	DGAT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2905248	NM_012079.6(DGAT1):c.1095-5C>T	DGAT1, MIR6848	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2904526	NM_012079.6(DGAT1):c.216G>A (p.Gln72=)	DGAT1	Single nucleotide variant (synonymous variant)	DGAT1-related condition +1 more	GLikely benign
Select item 2904220	NM_012079.6(DGAT1):c.514C>T (p.Leu172=)	DGAT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2903893	NM_012079.6(DGAT1):c.702T>C (p.Ser234=)	DGAT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2902138	NM_012079.6(DGAT1):c.150C>T (p.Ala50=)	DGAT1, LOC130001385	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898556	NM_012079.6(DGAT1):c.1044C>G (p.Ala348=)	DGAT1, LOC130001383	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2897405	NM_012079.6(DGAT1):c.306G>C (p.Arg102=)	DGAT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2896858	NM_012079.6(DGAT1):c.288+8G>A	DGAT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2893849	NM_012079.6(DGAT1):c.330-10C>T	DGAT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2891388	NM_012079.6(DGAT1):c.201-1G>C	DGAT1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2890867	NM_012079.6(DGAT1):c.39G>C (p.Gly13=)	DGAT1, LOC130001386	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2886897	NM_012079.6(DGAT1):c.762C>T (p.Tyr254=)	DGAT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2883483	NM_012079.6(DGAT1):c.1314C>T (p.Ile438=)	DGAT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2882094	NM_012079.6(DGAT1):c.867C>G (p.Thr289=)	DGAT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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