MGAT3[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC130067651, LOC130067652 +1004 more	Copy number gain	See cases	GPathogenic
Select item 57943	GRCh38/hg38 22q13.1-13.2(chr22:37721797-40860953)x3	LOC130067459, LOC130067460 +273 more	Copy number gain	See cases	GPathogenic
Select item 2293050	NM_002409.5(MGAT3):c.13C>G (p.Arg5Gly)	MGAT3 (R5G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253720	NM_002409.5(MGAT3):c.31A>G (p.Met11Val)	MGAT3 (M11V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325216	NM_002409.5(MGAT3):c.130A>C (p.Asn44His)	MGAT3 (N44H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345606	NM_002409.5(MGAT3):c.212G>A (p.Arg71His)	MGAT3 (R71H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125908	NM_002409.5(MGAT3):c.224A>G (p.Tyr75Cys)	MGAT3 (Y75C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471455	NM_002409.5(MGAT3):c.445C>A (p.Pro149Thr)	MGAT3 (P149T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125909	NM_002409.5(MGAT3):c.448C>G (p.Arg150Gly)	MGAT3 (R150G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408457	NM_002409.5(MGAT3):c.463G>A (p.Ala155Thr)	MGAT3 (A155T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2623606	NM_002409.5(MGAT3):c.476C>G (p.Thr159Arg)	MGAT3 (T159R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248588	NM_002409.5(MGAT3):c.526G>A (p.Gly176Ser)	MGAT3 (G176S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242925	NM_002409.5(MGAT3):c.560T>A (p.Val187Glu)	MGAT3 (V187E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125911	NM_002409.5(MGAT3):c.575A>C (p.Asn192Thr)	MGAT3 (N192T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125912	NM_002409.5(MGAT3):c.622G>A (p.Val208Ile)	MGAT3 (V208I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125913	NM_002409.5(MGAT3):c.765G>C (p.Glu255Asp)	MGAT3 (E255D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322559	NM_002409.5(MGAT3):c.922C>G (p.Arg308Gly)	MGAT3 (R308G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 725765	NM_002409.5(MGAT3):c.927C>T (p.Pro309=)	MGAT3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 781620	NM_002409.5(MGAT3):c.1005C>G (p.Gly335=)	MGAT3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2569396	NM_002409.5(MGAT3):c.1114G>A (p.Ala372Thr)	MGAT3 (A372T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2534277	NM_002409.5(MGAT3):c.1179A>C (p.Arg393Ser)	MGAT3 (R393S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125905	NM_002409.5(MGAT3):c.1413G>C (p.Glu471Asp)	MGAT3 (E471D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347658	NM_002409.5(MGAT3):c.1474G>C (p.Asp492His)	MGAT3 (D492H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337206	NM_002409.5(MGAT3):c.1540C>T (p.Arg514Cys)	MGAT3 (R514C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516775	NM_002409.5(MGAT3):c.1567C>T (p.Pro523Ser)	MGAT3 (P523S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125906	NM_002409.5(MGAT3):c.1577G>A (p.Gly526Asp)	MGAT3 (G526D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235262	NM_002409.5(MGAT3):c.1588G>A (p.Glu530Lys)	MGAT3 (E530K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062450	GRCh37/hg19 22q13.1-13.31(chr22:39044105-45794212)x3	A4GALT, ACO2 +106 more	Copy number gain	not specified	GPathogenic
Select item 2422150	NC_000022.10:g.(?_35776672)_(42486826_?)dup	APOL2, APOL3 +132 more	Duplication	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1809336	GRCh37/hg19 22q13.1-13.2(chr22:39768795-41946225)x3	ACO2, ADSL +29 more	Copy number gain	not provided	GUncertain significance
Select item 1408743	NC_000022.10:g.(?_39621728)_(41077932_?)dup	ADSL, ATF4 +19 more	Duplication	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 816216	GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	CERK, CHADL +271 more	Copy number gain	not provided	GPathogenic
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	ANKRD54, AP1B1 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	NEFH, NF2 +435 more	Copy number gain	See cases	GPathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	ZNF280A, ZNF280B +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	SMARCB1, SMC1B +438 more	Copy number gain	See cases	GPathogenic
Select item 253617	GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3	A4GALT, ACO2 +223 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic

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Items: 42