MOGAT2[gene] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58916	GRCh38/hg38 11q13.4-13.5(chr11:71928796-77064521)x1	LOC130006424, LOC130006425 +305 more	Copy number loss	See cases	GPathogenic
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 2372485	NM_025098.4(MOGAT2):c.14C>T (p.Ala5Val)	MOGAT2 (A5V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300642	NM_025098.4(MOGAT2):c.21G>C (p.Leu7Phe)	MOGAT2 (L7F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588706	NM_025098.4(MOGAT2):c.28C>T (p.Pro10Ser)	MOGAT2 (P10S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 781225	NM_025098.4(MOGAT2):c.104C>T (p.Thr35Ile)	MOGAT2 (T35I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2284543	NM_025098.4(MOGAT2):c.190C>A (p.Pro64Thr)	MOGAT2 (P64T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2468142	NM_025098.4(MOGAT2):c.193C>T (p.Arg65Trp)	MOGAT2 (R65W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2516684	NM_025098.4(MOGAT2):c.218C>T (p.Ala73Val)	MOGAT2 (A73V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373156	NM_025098.4(MOGAT2):c.301C>T (p.Arg101Trp)	MOGAT2 (R101W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512348	NM_025098.4(MOGAT2):c.314C>T (p.Ala105Val)	MOGAT2 (A105V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463499	NM_025098.4(MOGAT2):c.344T>C (p.Val115Ala)	MOGAT2 (V115A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2220335	NM_025098.4(MOGAT2):c.361C>A (p.Leu121Met)	MOGAT2 (L121M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344602	NM_025098.4(MOGAT2):c.406C>T (p.Arg136Cys)	MOGAT2 (R136C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595236	NM_025098.4(MOGAT2):c.439C>T (p.Arg147Trp)	MOGAT2 (R147W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340282	NM_025098.4(MOGAT2):c.470C>T (p.Ser157Phe)	MOGAT2 (S157F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211311	NM_025098.4(MOGAT2):c.532G>A (p.Gly178Arg)	MOGAT2 (G178R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 782297	NM_025098.4(MOGAT2):c.628G>A (p.Val210Ile)	MOGAT2 (V210I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2260192	NM_025098.4(MOGAT2):c.637G>A (p.Ala213Thr)	MOGAT2 (A213T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212033	NM_025098.4(MOGAT2):c.643A>G (p.Thr215Ala)	MOGAT2 (T215A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218180	NM_025098.4(MOGAT2):c.649G>A (p.Gly217Arg)	MOGAT2 (G217R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320635	NM_025098.4(MOGAT2):c.652G>A (p.Ala218Thr)	MOGAT2 (A218T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288916	NM_025098.4(MOGAT2):c.676T>G (p.Phe226Val)	MOGAT2 (F226V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2403395	NM_025098.4(MOGAT2):c.691C>G (p.Leu231Val)	MOGAT2 (L231V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515129	NM_025098.4(MOGAT2):c.829C>T (p.Arg277Cys)	MOGAT2 (R277C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509543	NM_025098.4(MOGAT2):c.844A>G (p.Thr282Ala)	MOGAT2 (T282A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602849	NM_025098.4(MOGAT2):c.886C>A (p.Pro296Thr)	MOGAT2 (P296T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285745	NM_025098.4(MOGAT2):c.920G>T (p.Arg307Leu)	MOGAT2 (R307L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	ACTN3, ACY3 +362 more	Copy number gain	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	APOA1, APOA4 +904 more	Deletion	Intellectual disability	GPathogenic
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)	EMSY, ENDOD1 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic

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Items: 34