MGAT4C[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 155032	GRCh38/hg38 12q21.1-22(chr12:73485697-92795805)x1	ACSS3, ALX1 +287 more	Copy number loss	See cases	GPathogenic
Select item 155425	GRCh38/hg38 12q21.31-21.32(chr12:85722164-86332192)x3	LOC126861589, LOC130008342 +3 more	Copy number gain	See cases	GLikely benign
Select item 2356291	NM_001351288.2(MGAT4C):c.1345A>G (p.Ile449Val)	MGAT4C (I449V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2292228	NM_001351288.2(MGAT4C):c.1331G>A (p.Gly444Asp)	MGAT4C (G444D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2483169	NM_001351288.2(MGAT4C):c.1271G>A (p.Arg424Lys)	MGAT4C (R453K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125937	NM_001351288.2(MGAT4C):c.1252A>G (p.Met418Val)	MGAT4C (M447V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 776733	NM_001351288.2(MGAT4C):c.1248C>T (p.Asn416=)	MGAT4C	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2280503	NM_001351288.2(MGAT4C):c.1236T>A (p.Asp412Glu)	MGAT4C (D412E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240938	NM_001351288.2(MGAT4C):c.1229C>A (p.Ala410Asp)	MGAT4C (A439D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549785	NM_001351288.2(MGAT4C):c.1201C>T (p.Arg401Trp)	MGAT4C (R430W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455793	NM_001351288.2(MGAT4C):c.725C>T (p.Ala242Val)	MGAT4C (A271V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463328	NM_001351288.2(MGAT4C):c.596G>T (p.Arg199Leu)	MGAT4C (R237L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320788	NM_001351288.2(MGAT4C):c.514A>T (p.Ile172Leu)	MGAT4C (I201L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462997	NM_001351288.2(MGAT4C):c.446G>A (p.Arg149His)	MGAT4C (R178H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516155	NM_001351288.2(MGAT4C):c.437C>A (p.Ser146Tyr)	MGAT4C (S146Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125939	NM_001351288.2(MGAT4C):c.203G>T (p.Arg68Leu)	MGAT4C (R68L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125938	NM_001351288.2(MGAT4C):c.154G>A (p.Asp52Asn)	MGAT4C (D52N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373132	NM_001351288.2(MGAT4C):c.128T>C (p.Ile43Thr)	MGAT4C (I43T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319529	NM_001351288.2(MGAT4C):c.97G>T (p.Val33Phe)	MGAT4C (V33F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217601	NM_001351288.2(MGAT4C):c.67C>T (p.Arg23Cys)	MGAT4C (R52C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331994	NM_001351288.2(MGAT4C):c.9A>C (p.Lys3Asn)	MGAT4C (K32N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 153857	GRCh38/hg38 12q21.32(chr12:86403298-87522344)x3	LOC105369879, LOC126861590 +4 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 151341	GRCh38/hg38 12q21.32(chr12:86429352-87327461)x1	LOC130008343, LOC130008344 +2 more	Copy number loss	See cases	GLikely benign
Select item 150577	GRCh38/hg38 12q21.32(chr12:86443917-87324781)x1	LOC130008343, LOC130008344 +2 more	Copy number loss	See cases	GUncertain significance
Select item 150338	GRCh38/hg38 12q21.32(chr12:86572479-86881491)x1	MGAT4C, MIR3059	Copy number loss	See cases	GLikely benign
Select item 148635	GRCh38/hg38 12q21.32(chr12:86813466-87184596)x1	LOC130008343, LOC130008344 +1 more	Copy number loss	See cases	GLikely benign
Select item 145896	GRCh38/hg38 12q21.32(chr12:86813466-87184537)x1	LOC130008343, LOC130008344 +1 more	Copy number loss	See cases	GLikely benign
Select item 3063243	GRCh37/hg19 12q21.1-21.33(chr12:74887087-90469800)x1	ACSS3, ALX1 +43 more	Copy number loss	not specified	GPathogenic
Select item 2685445	GRCh37/hg19 12q21.32(chr12:86854062-86919682)x1	MGAT4C	Copy number loss	not provided	GUncertain significance
Select item 980449	GRCh37/hg19 12q21.31-21.32(chr12:85812496-86797077)x3	NTS, MGAT4C +1 more	Copy number gain	not provided	GUncertain significance
Select item 980448	GRCh37/hg19 12q21.31-21.32(chr12:86017618-86786974)x3	RASSF9, MGAT4C +1 more	Copy number gain	not provided	GLikely benign
Select item 980447	GRCh37/hg19 12q21.31(chr12:86432529-86529656)x1	MGAT4C	Copy number loss	not provided	GUncertain significance
Select item 815543	GRCh37/hg19 12q21.32(chr12:87121778-87551060)x1	MGAT4C	Copy number loss	not provided	GUncertain significance
Select item 815542	GRCh37/hg19 12q21.31(chr12:86173243-86421728)x3	RASSF9, NTS +1 more	Copy number gain	not provided	GUncertain significance
Select item 688409	GRCh37/hg19 12q21.31(chr12:86438504-86522229)x1	MGAT4C	Copy number loss	not provided	GUncertain significance
Select item 687328	GRCh37/hg19 12q21.2-22(chr12:77737623-94330526)x1	ACSS3, ALX1 +46 more	Copy number loss	not provided	GPathogenic
Select item 686682	GRCh37/hg19 12q21.31-21.32(chr12:86138213-88183106)x1	MGAT4C, NTS +1 more	Copy number loss	not provided	GUncertain significance
Select item 625562	GRCh37/hg19 12q21.31-21.32(chr12:82183041-88755577)	ALX1, C12orf29 +12 more	Copy number gain	not provided	GPathogenic
Select item 563978	GRCh37/hg19 12q21.31-21.32(chr12:86115942-88186381)x1	MGAT4C, NTS +1 more	Copy number loss	not provided	GUncertain significance
Select item 563967	GRCh37/hg19 12q21.32(chr12:86804191-87905416)x3	MGAT4C	Copy number gain	not provided	GUncertain significance
Select item 563941	GRCh37/hg19 12q21.32(chr12:87188645-87582711)x1	MGAT4C	Copy number loss	not provided	GLikely benign
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
Select item 394664	GRCh37/hg19 12q21.31(chr12:86422840-86485493)x1	MGAT4C	Copy number loss	See cases	GBenign
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic

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Items: 46