"DGAT1-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 722323	NM_012079.6(DGAT1):c.1407C>T (p.Val469=)	DGAT1	Single nucleotide variant (synonymous variant)	DGAT1-related disorder +1 more	GBenign/Likely benign
Select item 1148020	NM_012079.6(DGAT1):c.1311+9C>T	DGAT1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1599565	NM_012079.6(DGAT1):c.1095-3dup	DGAT1, MIR6848	Duplication (non-coding transcript variant +1 more)	DGAT1-related disorder +2 more	GConflicting classifications of pathogenicity
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 1544770	NM_012079.6(DGAT1):c.981+9G>A	DGAT1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2960611	NM_012079.6(DGAT1):c.981+8C>T	DGAT1	Single nucleotide variant (intron variant)	DGAT1-related disorder +1 more	GLikely benign
Select item 420431	NM_012079.6(DGAT1):c.797A>G (p.Asn266Ser)	DGAT1 (N266S)	Single nucleotide variant (missense variant)	DGAT1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1450684	NM_012079.6(DGAT1):c.750C>T (p.Arg250=)	DGAT1	Single nucleotide variant (synonymous variant)	DGAT1-related disorder +1 more	GLikely benign
Select item 784644	NM_012079.6(DGAT1):c.677-4G>A	DGAT1	Single nucleotide variant (intron variant)	DGAT1-related disorder +1 more	GBenign/Likely benign
Select item 1570546	NM_012079.6(DGAT1):c.636C>T (p.Arg212=)	DGAT1	Single nucleotide variant (synonymous variant)	DGAT1-related disorder +1 more	GLikely benign
Select item 3058874	NM_012079.6(DGAT1):c.612C>G (p.Leu204=)	DGAT1	Single nucleotide variant (synonymous variant)	DGAT1-related disorder	GLikely benign
Select item 1591690	NM_012079.6(DGAT1):c.432T>C (p.Ala144=)	DGAT1	Single nucleotide variant (synonymous variant)	DGAT1-related disorder +1 more	GBenign/Likely benign
Select item 1669716	NM_012079.6(DGAT1):c.289-5C>T	DGAT1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2904526	NM_012079.6(DGAT1):c.216G>A (p.Gln72=)	DGAT1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign