ClinVar for Gene (Select 84649) - ClinVar

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Links from Gene

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3337022	NM_032564.5(DGAT2):c.775C>T (p.Arg259Cys)	DGAT2 (R216C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3271682	NM_032564.5(DGAT2):c.955C>T (p.Leu319Phe)	DGAT2 (L276F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271681	NM_032564.5(DGAT2):c.743T>G (p.Met248Arg)	DGAT2 (M248R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271680	NM_032564.5(DGAT2):c.883T>C (p.Trp295Arg)	DGAT2 (W252R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3234434	NM_032564.5(DGAT2):c.957C>T (p.Leu319=)	DGAT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3081819	NM_032564.5(DGAT2):c.901A>G (p.Lys301Glu)	DGAT2 (K301E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2642164	NM_032564.5(DGAT2):c.952G>A (p.Gly318Ser)	DGAT2 (G275S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2642163	NM_032564.5(DGAT2):c.889C>T (p.Arg297Ter)	DGAT2 (R254* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2642162	NM_032564.5(DGAT2):c.855C>A (p.Tyr285Ter)	DGAT2 (Y242* +1 more)	Single nucleotide variant (nonsense)	not provided	GBenign
Select item 2642161	NM_032564.5(DGAT2):c.749G>A (p.Gly250Asp)	DGAT2 (G207D +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2616893	NM_032564.5(DGAT2):c.1065C>G (p.Ile355Met)	DGAT2 (I312M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606136	NM_032564.5(DGAT2):c.1157A>C (p.Glu386Ala)	DGAT2 (E386A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588905	NM_032564.5(DGAT2):c.1034C>T (p.Pro345Leu)	DGAT2 (P345L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2582694	NM_032564.5(DGAT2):c.245T>C (p.Val82Ala)	DGAT2 (V82A)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 2A1	GUncertain significance
Select item 2400625	NM_032564.5(DGAT2):c.1087A>C (p.Met363Leu)	DGAT2 (M320L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395078	NM_032564.5(DGAT2):c.353A>C (p.Lys118Thr)	DGAT2 (K75T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329052	NM_032564.5(DGAT2):c.937A>G (p.Ile313Val)	DGAT2 (I270V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304792	NM_032564.5(DGAT2):c.829T>C (p.Tyr277His)	DGAT2 (Y277H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301725	NM_032564.5(DGAT2):c.1139C>A (p.Pro380Gln)	DGAT2 (P337Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282893	NM_032564.5(DGAT2):c.705C>G (p.Ile235Met)	DGAT2 (I192M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233154	NM_032564.5(DGAT2):c.902A>G (p.Lys301Arg)	DGAT2 (K258R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225257	NM_032564.5(DGAT2):c.802C>T (p.Arg268Cys)	DGAT2 (R225C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222732	NM_032564.5(DGAT2):c.97T>C (p.Ser33Pro)	DGAT2, LOC130006439 (S33P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1284806	NM_032564.5(DGAT2):c.890G>A (p.Arg297Gln)	DGAT2 (R254Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 782870	NM_032564.5(DGAT2):c.408T>C (p.Phe136=)	DGAT2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 708403	NM_032564.5(DGAT2):c.690T>C (p.Ser230=)	DGAT2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 223126	NM_032564.5(DGAT2):c.667T>C (p.Tyr223His)	DGAT2 (Y223H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 58917	GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1	AAMDC, ACER3 +355 more	Copy number loss	See cases	GPathogenic
Select item 58916	GRCh38/hg38 11q13.4-13.5(chr11:71928796-77064521)x1	LOC130006424, LOC130006425 +305 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 35