"Ambry Genetics"[submitter] AND "DGAT1"[gene] - ClinVar

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

Search results

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3081815	NM_012079.6(DGAT1):c.1175C>T (p.Pro392Leu)	DGAT1 (P392L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247902	NM_012079.6(DGAT1):c.1128C>G (p.Asn376Lys)	DGAT1 (N376K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1409188	NM_012079.6(DGAT1):c.961G>A (p.Glu321Lys)	DGAT1 (E321K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2225731	NM_012079.6(DGAT1):c.915G>C (p.Gln305His)	DGAT1 (Q305H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308610	NM_012079.6(DGAT1):c.902T>C (p.Val301Ala)	DGAT1 (V301A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3081818	NM_012079.6(DGAT1):c.814C>G (p.Arg272Gly)	DGAT1 (R272G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3081817	NM_012079.6(DGAT1):c.808T>C (p.Ser270Pro)	DGAT1 (S270P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 139512	NM_012079.6(DGAT1):c.751+2T>C	DGAT1	Single nucleotide variant (splice donor variant)	Congenital diarrhea 7 with exudative enteropathy +2 more	GPathogenic
Select item 1925858	NM_012079.6(DGAT1):c.749G>T (p.Arg250Leu)	DGAT1 (R250L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1357460	NM_012079.6(DGAT1):c.712C>T (p.Pro238Ser)	DGAT1 (P238S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2235668	NM_012079.6(DGAT1):c.692A>C (p.Lys231Thr)	DGAT1 (K231T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366992	NM_012079.6(DGAT1):c.691A>G (p.Lys231Glu)	DGAT1 (K231E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3081816	NM_012079.6(DGAT1):c.651G>C (p.Trp217Cys)	DGAT1 (W217C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1585031	NM_012079.6(DGAT1):c.640G>A (p.Val214Ile)	DGAT1 (V214I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1437496	NM_012079.6(DGAT1):c.610C>T (p.Leu204Phe)	DGAT1 (L204F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1426869	NM_012079.6(DGAT1):c.488C>T (p.Ala163Val)	DGAT1 (A163V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2293996	NM_012079.6(DGAT1):c.430G>C (p.Ala144Pro)	DGAT1 (A144P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369669	NM_012079.6(DGAT1):c.409G>C (p.Val137Leu)	DGAT1 (V137L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543322	NM_012079.6(DGAT1):c.365C>T (p.Ser122Phe)	DGAT1 (S122F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2178030	NM_012079.6(DGAT1):c.155A>G (p.Asn52Ser)	DGAT1, LOC130001385 (N52S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 1440794	NM_012079.6(DGAT1):c.95G>T (p.Arg32Leu)	DGAT1, LOC130001385 (R32L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2186025	NM_012079.6(DGAT1):c.52A>T (p.Ser18Cys)	DGAT1, LOC130001386 (S18C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 2245950	NM_012079.6(DGAT1):c.7G>T (p.Asp3Tyr)	DGAT1, LOC130001386 (D3Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 27