Related gene-specific medical variations for Gene (Select 8694) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362543	NM_012079.6(DGAT1):c.808_816del (p.Ser270_Arg272del)	DGAT1	Deletion	Congenital diarrhea 7 with exudative enteropathy	GUncertain significance
Select item 3336233	NM_012079.6(DGAT1):c.1A>G (p.Met1Val)	DGAT1, LOC130001386 (M1V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3245578	NC_000008.10:g.(?_145541784)_(145541915_?)del	DGAT1	Deletion	not provided	GLikely pathogenic
Select item 3245577	NC_000008.10:g.(?_145550080)_(145550299_?)del	DGAT1	Deletion	not provided	GPathogenic
Select item 3081814	NM_012079.6(DGAT1):c.1027C>T (p.His343Tyr)	DGAT1, LOC130001383 (H343Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 3015884	NM_012079.6(DGAT1):c.1094+9C>T	DGAT1, LOC130001383	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 3000656	NM_012079.6(DGAT1):c.1074G>C (p.Arg358=)	DGAT1, LOC130001383	Single nucleotide variant (synonymous 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 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 2989524	NM_012079.6(DGAT1):c.1026C>T (p.Phe342=)	DGAT1, LOC130001383	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2977249	NM_012079.6(DGAT1):c.63C>T (p.Gly21=)	DGAT1, LOC130001386	Single nucleotide variant (synonymous 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 2960389	NM_012079.6(DGAT1):c.1016A>T (p.Tyr339Phe)	DGAT1, LOC130001383 (Y339F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 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 2890867	NM_012079.6(DGAT1):c.39G>C (p.Gly13=)	DGAT1, LOC130001386	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2877516	NM_012079.6(DGAT1):c.982-16_982-14del	DGAT1, LOC130001383	Deletion (intron variant)	not provided	GLikely benign
Select item 2877511	NM_012079.6(DGAT1):c.982-12C>T	DGAT1, LOC130001383	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2862838	NM_012079.6(DGAT1):c.78G>A (p.Ala26=)	DGAT1, LOC130001386	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2851063	NM_012079.6(DGAT1):c.36A>G (p.Thr12=)	DGAT1, LOC130001386	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2842689	NM_012079.6(DGAT1):c.1075del (p.Glu359fs)	DGAT1, LOC130001383 (E359fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2837665	NM_012079.6(DGAT1):c.105T>A (p.Ala35=)	DGAT1, LOC130001385	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2829860	NM_012079.6(DGAT1):c.102C>T (p.Ala34=)	DGAT1, LOC130001385	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2822487	NM_012079.6(DGAT1):c.1032C>A (p.Ser344=)	DGAT1, LOC130001383	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2820817	NM_012079.6(DGAT1):c.1095-20del	DGAT1, LOC130001383 +1 more	Deletion (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2814788	NM_012079.6(DGAT1):c.134del (p.Asp45fs)	DGAT1, LOC130001385 (D45fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2808516	NM_012079.6(DGAT1):c.982-1G>A	DGAT1, LOC130001383	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2800254	NM_012079.6(DGAT1):c.1023C>G (p.Leu341=)	DGAT1, LOC130001383	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2791124	NM_012079.6(DGAT1):c.1038G>A (p.Leu346=)	DGAT1, LOC130001383	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2789474	NM_012079.6(DGAT1):c.1035C>T (p.Cys345=)	DGAT1, LOC130001383	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2783677	NM_012079.6(DGAT1):c.982-18C>T	DGAT1, LOC130001383	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2781499	NM_012079.6(DGAT1):c.129G>C (p.Ala43=)	DGAT1, LOC130001385	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2778194	NM_012079.6(DGAT1):c.1095-12C>T	DGAT1, LOC130001383 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2772655	NM_012079.6(DGAT1):c.982-9C>A	DGAT1, LOC130001383	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2770127	NM_012079.6(DGAT1):c.1014C>T (p.Phe338=)	DGAT1, LOC130001383	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2767890	NM_012079.6(DGAT1):c.1005C>G (p.Leu335=)	DGAT1, LOC130001383	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2766883	NM_012079.6(DGAT1):c.982-18_982-11del	DGAT1, LOC130001383	Deletion (intron variant)	not provided	GLikely benign
Select item 2757674	NM_012079.6(DGAT1):c.982-5dup	DGAT1, LOC130001383	Duplication (intron variant)	not provided	GLikely benign
Select item 2750083	NM_012079.6(DGAT1):c.1095-4C>G	DGAT1, MIR6848	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2750056	NM_012079.6(DGAT1):c.111C>T (p.Gly37=)	DGAT1, LOC130001385	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2744751	NM_012079.6(DGAT1):c.982-5G>A	DGAT1, LOC130001383	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2636390	NM_012079.6(DGAT1):c.1094+2T>C	DGAT1, LOC130001383	Single nucleotide variant (splice donor variant)	DGAT1-related disorder	GLikely pathogenic
Select item 2573105	NM_012079.6(DGAT1):c.1049C>T (p.Ala350Val)	DGAT1, LOC130001383 (A350V)	Single nucleotide variant (missense variant)	Congenital diarrhea 7 with exudative enteropathy	GLikely pathogenic
Select item 2501788	NM_012079.6(DGAT1):c.1246G>A (p.Glu416Lys)	DGAT1 (E416K)	Single nucleotide variant (missense variant)	Congenital diarrhea 7 with exudative enteropathy	GUncertain significance
Select item 2407965	NM_012079.6(DGAT1):c.40T>G (p.Ser14Ala)	DGAT1, LOC130001386 (S14A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256824	NM_012079.6(DGAT1):c.97G>A (p.Asp33Asn)	DGAT1, LOC130001385 (D33N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245950	NM_012079.6(DGAT1):c.7G>T (p.Asp3Tyr)	DGAT1, LOC130001386 (D3Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2191221	NM_012079.6(DGAT1):c.1006A>G (p.Ile336Val)	DGAT1, LOC130001383 (I336V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2186025	NM_012079.6(DGAT1):c.52A>T (p.Ser18Cys)	LOC130001386, DGAT1 (S18C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2183489	NM_012079.6(DGAT1):c.1053G>A (p.Glu351=)	DGAT1, LOC130001383	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2178030	NM_012079.6(DGAT1):c.155A>G (p.Asn52Ser)	DGAT1, LOC130001385 (N52S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2177049	NM_012079.6(DGAT1):c.982-42_982-10del	DGAT1, LOC130001383	Deletion (intron variant)	not provided	GUncertain significance
Select item 2173396	NM_012079.6(DGAT1):c.1044C>T (p.Ala348=)	DGAT1, LOC130001383	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2150309	NM_012079.6(DGAT1):c.1095-7C>T	DGAT1, MIR6848	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2135572	NM_012079.6(DGAT1):c.982-11C>T	DGAT1, LOC130001383	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2128588	NM_012079.6(DGAT1):c.11G>C (p.Arg4Pro)	DGAT1, LOC130001386 (R4P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2097188	NM_012079.6(DGAT1):c.1084C>T (p.Arg362Trp)	DGAT1, LOC130001383 (R362W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2074285	NM_012079.6(DGAT1):c.1011C>T (p.Phe337=)	DGAT1, LOC130001383	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2072624	NM_012079.6(DGAT1):c.22C>A (p.Arg8=)	DGAT1, LOC130001386	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2065844	NM_012079.6(DGAT1):c.1050T>C (p.Ala350=)	DGAT1, LOC130001383	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1982081	NM_012079.6(DGAT1):c.1085G>A (p.Arg362Gln)	DGAT1, LOC130001383 (R362Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1973965	NM_012079.6(DGAT1):c.1020G>A (p.Trp340Ter)	DGAT1, LOC130001383 (W340*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1966267	NM_012079.6(DGAT1):c.150C>G (p.Ala50=)	DGAT1, LOC130001385	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1948250	NM_012079.6(DGAT1):c.982G>A (p.Val328Ile)	DGAT1, LOC130001383 (V328I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1915507	NM_012079.6(DGAT1):c.1045G>A (p.Val349Met)	DGAT1, LOC130001383 (V349M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1914502	NM_012079.6(DGAT1):c.1095-21_1095-20del	DGAT1, LOC130001383 +1 more	Deletion (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1913442	NM_012079.6(DGAT1):c.17G>A (p.Ser6Asn)	DGAT1, LOC130001386 (S6N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1912836	NM_012079.6(DGAT1):c.1095-16G>C	DGAT1, LOC130001383 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1907597	NM_012079.6(DGAT1):c.144C>T (p.Ala48=)	DGAT1, LOC130001385	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1810258	NM_012079.6(DGAT1):c.1095G>A (p.Trp365Ter)	DGAT1, MIR6848 (W365*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 1705597	NM_012079.6(DGAT1):c.140del (p.Pro47fs)	DGAT1, LOC130001385 (P47fs)	Deletion (frameshift variant)	Congenital diarrhea 7 with exudative enteropathy	GLikely pathogenic
Select item 1657996	NM_012079.6(DGAT1):c.129G>A (p.Ala43=)	DGAT1, LOC130001385	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1644868	NM_012079.6(DGAT1):c.102C>A (p.Ala34=)	DGAT1, LOC130001385	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1626423	NM_012079.6(DGAT1):c.982-18C>A	DGAT1, LOC130001383	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1618119	NM_012079.6(DGAT1):c.1077G>A (p.Glu359=)	DGAT1, LOC130001383	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1599565	NM_012079.6(DGAT1):c.1095-3dup	MIR6848, DGAT1	Duplication (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1562829	NM_012079.6(DGAT1):c.147G>A (p.Pro49=)	DGAT1, LOC130001385	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1559880	NM_012079.6(DGAT1):c.984C>T (p.Val328=)	DGAT1, LOC130001383	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1558548	NM_012079.6(DGAT1):c.1094+10C>T	DGAT1, LOC130001383	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1554364	NM_012079.6(DGAT1):c.149C>T (p.Ala50Val)	DGAT1, LOC130001385 (A50V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1499313	NM_012079.6(DGAT1):c.151C>T (p.Pro51Ser)	DGAT1, LOC130001385 (P51S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1480344	NM_012079.6(DGAT1):c.6C>T (p.Gly2=)	DGAT1, LOC130001386	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1474695	NM_012079.6(DGAT1):c.35C>A (p.Thr12Lys)	DGAT1, LOC130001386 (T12K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1467679	NM_012079.6(DGAT1):c.57CGG[5] (p.Gly23dup)	DGAT1, LOC130001386	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1440794	NM_012079.6(DGAT1):c.95G>T (p.Arg32Leu)	DGAT1, LOC130001385 (R32L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1406787	NM_012079.6(DGAT1):c.44G>A (p.Arg15Gln)	DGAT1, LOC130001386 (R15Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1367622	NM_012079.6(DGAT1):c.109G>A (p.Gly37Ser)	DGAT1, LOC130001385 (G37S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1362330	NM_012079.6(DGAT1):c.95G>A (p.Arg32Gln)	DGAT1, LOC130001385 (R32Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1265781	NM_012079.6(DGAT1):c.-39=	DGAT1, LOC130001386	Single nucleotide variant (no sequence alteration)	not provided	GBenign
Select item 1168707	NM_012079.6(DGAT1):c.21C>T (p.Ser7=)	DGAT1, LOC130001386	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1164155	NM_012079.6(DGAT1):c.1094+16del	DGAT1, LOC130001383	Deletion (intron variant)	not provided	GBenign
Select item 1125847	NM_012079.6(DGAT1):c.1094+13G>C	DGAT1, LOC130001383	Single nucleotide variant (intron variant)	not provided	GLikely benign

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