DGAT1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130001109, LOC130001110 +1532 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	AARD, ABRA +1330 more	Copy number gain	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130000987, LOC130000988 +1205 more	Copy number gain	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001173, LOC130001174 +1068 more	Copy number gain	See cases	GPathogenic
Select item 57045	GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3	LOC130001070, LOC130001071 +962 more	Copy number gain	See cases	GPathogenic
Select item 148271	GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3	ADCK5, ADCY8 +746 more	Copy number gain	See cases	GPathogenic
Select item 33826	GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3	LOC130001144, LOC130001145 +745 more	Copy number gain	See cases	GPathogenic
Select item 57179	GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3	ADCK5, ADCY8 +567 more	Copy number gain	See cases	GPathogenic
Select item 148571	GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3	EPPK1, ERICD +499 more	Copy number gain	See cases	GPathogenic
Select item 148265	GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3	TOP1MT, TRAPPC9 +373 more	Copy number gain	See cases	GLikely pathogenic
Select item 148392	GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3	ADCK5, ADGRB1 +375 more	Copy number gain	See cases	GLikely pathogenic
Select item 57047	GRCh38/hg38 8q24.3(chr8:144002671-144796947)x3	ADCK5, ARHGAP39 +120 more	Copy number gain	See cases	GPathogenic
Select item 144948	GRCh38/hg38 8q24.3(chr8:144264907-144668170)x1	ADCK5, ARHGAP39 +74 more	Copy number loss	See cases	GBenign
Select item 58433	GRCh38/hg38 8q24.3(chr8:144287919-144723120)x3	ADCK5, ARHGAP39 +73 more	Copy number gain	See cases	GUncertain significance
Select item 1338779	NM_012079.6(DGAT1):c.805_*341del (p.Arg269fs)	DGAT1, LOC130001382 +2 more (R269fs)	Deletion (frameshift variant +2 more)	Congenital diarrhea 7 with exudative enteropathy	GPathogenic
Select item 1085353	NM_012079.6(DGAT1):c.1464C>T (p.Ala488=)	DGAT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1363716	NM_012079.6(DGAT1):c.1462G>A (p.Ala488Thr)	DGAT1 (A488T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 504005	NM_012079.6(DGAT1):c.1462del (p.Ala488fs)	DGAT1 (A488fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1400812	NM_012079.6(DGAT1):c.1459G>A (p.Glu487Lys)	DGAT1 (E487K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1662297	NM_012079.6(DGAT1):c.1455G>T (p.Ala485=)	DGAT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1569835	NM_012079.6(DGAT1):c.1455G>A (p.Ala485=)	DGAT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 738939	NM_012079.6(DGAT1):c.1454C>T (p.Ala485Val)	DGAT1 (A485V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1422316	NM_012079.6(DGAT1):c.1450_1452del (p.Pro484del)	DGAT1 (P484del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1905411	NM_012079.6(DGAT1):c.1449C>A (p.Ala483=)	DGAT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2184163	NM_012079.6(DGAT1):c.1443T>C (p.Tyr481=)	DGAT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1674523	NM_012079.6(DGAT1):c.1431C>T (p.Tyr477=)	DGAT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2316697	NM_012079.6(DGAT1):c.1427A>C (p.Tyr476Ser)	DGAT1 (Y476S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2092479	NM_012079.6(DGAT1):c.1425C>T (p.Asp475=)	DGAT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1167980	NM_012079.6(DGAT1):c.1422C>T (p.His474=)	DGAT1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2978405	NM_012079.6(DGAT1):c.1419C>T (p.Val473=)	DGAT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1446023	NM_012079.6(DGAT1):c.1417G>A (p.Val473Ile)	DGAT1 (V473I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1950868	NM_012079.6(DGAT1):c.1416C>T (p.Tyr472=)	DGAT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1896603	NM_012079.6(DGAT1):c.1412T>C (p.Met471Thr)	DGAT1 (M471T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 722323	NM_012079.6(DGAT1):c.1407C>T (p.Val469=)	DGAT1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1523159	NM_012079.6(DGAT1):c.1405G>A (p.Val469Ile)	DGAT1 (V469I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1627760	NM_012079.6(DGAT1):c.1404C>T (p.Ala468=)	DGAT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 792119	NM_012079.6(DGAT1):c.1401A>T (p.Ile467=)	DGAT1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1554867	NM_012079.6(DGAT1):c.1389C>T (p.Ile463=)	DGAT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881266	NM_012079.6(DGAT1):c.1386C>T (p.Ile462=)	DGAT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2190282	NM_012079.6(DGAT1):c.1383C>T (p.Leu461=)	DGAT1	Single nucleotide variant (synonymous 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 2795495	NM_012079.6(DGAT1):c.1380G>T (p.Ser460=)	DGAT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1053416	NM_012079.6(DGAT1):c.1374G>A (p.Trp458Ter)	DGAT1 (W458*)	Single nucleotide variant (nonsense)	Congenital diarrhea 7 with exudative enteropathy +1 more	GConflicting classifications of pathogenicity
Select item 1961898	NM_012079.6(DGAT1):c.1373G>C (p.Trp458Ser)	DGAT1 (W458S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2192197	NM_012079.6(DGAT1):c.1368T>C (p.Ala456=)	DGAT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1922531	NM_012079.6(DGAT1):c.1362C>T (p.Asn454=)	DGAT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2111019	NM_012079.6(DGAT1):c.1348G>A (p.Gly450Ser)	DGAT1 (G450S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2015420	NM_012079.6(DGAT1):c.1346A>G (p.Gln449Arg)	DGAT1 (Q449R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2040791	NM_012079.6(DGAT1):c.1344C>T (p.Phe448=)	DGAT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1473571	NM_012079.6(DGAT1):c.1337_1338delinsAT (p.Arg446His)	DGAT1 (R446H)	Indel (missense variant)	not provided	GUncertain significance
Select item 2077745	NM_012079.6(DGAT1):c.1337G>A (p.Arg446His)	DGAT1 (R446H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2878442	NM_012079.6(DGAT1):c.1336del (p.Arg446fs)	DGAT1 (R446fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1462841	NM_012079.6(DGAT1):c.1336C>T (p.Arg446Cys)	DGAT1 (R446C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1169249	NM_012079.6(DGAT1):c.1335C>T (p.Gly445=)	DGAT1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1929232	NM_012079.6(DGAT1):c.1330G>A (p.Val444Met)	DGAT1 (V444M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1120466	NM_012079.6(DGAT1):c.1329C>T (p.Phe443=)	DGAT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1541823	NM_012079.6(DGAT1):c.1317A>G (p.Pro439=)	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 1489526	NM_012079.6(DGAT1):c.1312-4del	DGAT1	Deletion (intron variant)	not provided	GLikely benign
Select item 1917516	NM_012079.6(DGAT1):c.1312-5C>T	DGAT1	Single nucleotide variant (intron 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 2085357	NM_012079.6(DGAT1):c.1312-13C>T	DGAT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2807179	NM_012079.6(DGAT1):c.1312-14C>T	DGAT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2733314	NM_012079.6(DGAT1):c.1312-15C>T	DGAT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1633893	NM_012079.6(DGAT1):c.1312-16G>A	DGAT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2831878	NM_012079.6(DGAT1):c.1311+13_1311+48del	DGAT1	Deletion (intron variant)	not provided	GLikely benign
Select item 2785846	NM_012079.6(DGAT1):c.1311+20C>T	DGAT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2820722	NM_012079.6(DGAT1):c.1311+16G>T	DGAT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2793647	NM_012079.6(DGAT1):c.1311+16G>A	DGAT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1654300	NM_012079.6(DGAT1):c.1311+15C>T	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 2796772	NM_012079.6(DGAT1):c.1311+11C>A	DGAT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2789255	NM_012079.6(DGAT1):c.1311+10C>T	DGAT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2831879	NM_012079.6(DGAT1):c.1311+9C>A	DGAT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1148020	NM_012079.6(DGAT1):c.1311+9C>T	DGAT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1923379	NM_012079.6(DGAT1):c.1311+5G>A	DGAT1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1503319	NM_012079.6(DGAT1):c.1311+4A>G	DGAT1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1960248	NM_012079.6(DGAT1):c.1311+2T>C	DGAT1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 489286	NM_012079.6(DGAT1):c.1311+1G>A	DGAT1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 684436	NM_012079.6(DGAT1):c.1310A>G (p.Gln437Arg)	DGAT1 (Q437R)	Single nucleotide variant (missense variant)	Congenital diarrhea 7 with exudative enteropathy	GLikely pathogenic
Select item 1946397	NM_012079.6(DGAT1):c.1299C>T (p.Gly433=)	DGAT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1502536	NM_012079.6(DGAT1):c.1296G>A (p.Thr432=)	DGAT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2066108	NM_012079.6(DGAT1):c.1295C>T (p.Thr432Met)	DGAT1 (T432M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2719231	NM_012079.6(DGAT1):c.1290G>A (p.Ala430=)	DGAT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1352679	NM_012079.6(DGAT1):c.1270C>T (p.Arg424Ter)	DGAT1 (R424*)	Single nucleotide variant (nonsense)	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 3010332	NM_012079.6(DGAT1):c.1263C>T (p.Val421=)	DGAT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1626169	NM_012079.6(DGAT1):c.1260C>T (p.Ser420=)	DGAT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 391164	NM_012079.6(DGAT1):c.1260C>G (p.Ser420Arg)	DGAT1 (S420R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2732274	NM_012079.6(DGAT1):c.1257G>C (p.Val419=)	DGAT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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