ClinVar for Gene (Select 130001386) - ClinVar

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Links from Gene

Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3022534	NM_012079.6(DGAT1):c.45G>A (p.Arg15=)	DGAT1, LOC130001386	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 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 2955867	NM_012079.6(DGAT1):c.69_82del (p.Pro24fs)	DGAT1, LOC130001386 (P24fs)	Deletion (frameshift variant)	not provided	GPathogenic
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 2881168	NM_012079.6(DGAT1):c.70_122del (p.Pro24fs)	DGAT1, LOC130001385 +1 more (P24fs)	Deletion (frameshift variant)	not provided	GPathogenic
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 2850963	NM_012079.6(DGAT1):c.14_138del (p.Gly5fs)	DGAT1, LOC130001385 +1 more (G5fs)	Deletion (frameshift variant)	not provided	GPathogenic
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 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 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 2128588	NM_012079.6(DGAT1):c.11G>C (p.Arg4Pro)	DGAT1, LOC130001386 (R4P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1913442	NM_012079.6(DGAT1):c.17G>A (p.Ser6Asn)	DGAT1, LOC130001386 (S6N)	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 1406787	NM_012079.6(DGAT1):c.44G>A (p.Arg15Gln)	DGAT1, LOC130001386 (R15Q)	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 1258998	NC_000008.11:g.144327213A>C	DGAT1, LOC130001386	Single nucleotide variant	not provided	GBenign
Select item 1225501	NC_000008.11:g.144327017=	DGAT1, LOC130001386	Single nucleotide variant	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 816919	NM_012079.6(DGAT1):c.5del (p.Gly2fs)	DGAT1, LOC130001386 (G2fs)	Deletion (frameshift variant +1 more)	Congenital diarrhea 7 with exudative enteropathy +1 more	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 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 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 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 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 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 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 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	AARD, ABRA +1330 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 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 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 148571	GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3	EPPK1, ERICD +499 more	Copy number gain	See cases	GPathogenic
Select item 148392	GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3	ADCK5, ADGRB1 +375 more	Copy number gain	See cases	GLikely pathogenic
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 148265	GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3	TOP1MT, TRAPPC9 +373 more	Copy number gain	See cases	GLikely pathogenic
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 144948	GRCh38/hg38 8q24.3(chr8:144264907-144668170)x1	ADCK5, ARHGAP39 +74 more	Copy number loss	See cases	GBenign
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 58433	GRCh38/hg38 8q24.3(chr8:144287919-144723120)x3	ADCK5, ARHGAP39 +73 more	Copy number gain	See cases	GUncertain significance
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 57179	GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3	ADCK5, ADCY8 +567 more	Copy number gain	See cases	GPathogenic
Select item 57047	GRCh38/hg38 8q24.3(chr8:144002671-144796947)x3	ADCK5, ARHGAP39 +120 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 33826	GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3	LOC130001144, LOC130001145 +745 more	Copy number gain	See cases	GPathogenic

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Items: 50