MGAT4C[gene] and "single gene"[properties] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3294616	NM_001351288.2(MGAT4C):c.203G>A (p.Arg68His)	MGAT4C (R68H +2 more)	Single nucleotide variant (missense variant +1 more)	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 2685445	GRCh37/hg19 12q21.32(chr12:86854062-86919682)x1	MGAT4C	Copy number loss	not provided	GUncertain significance
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 688409	GRCh37/hg19 12q21.31(chr12:86438504-86522229)x1	MGAT4C	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 394664	GRCh37/hg19 12q21.31(chr12:86422840-86485493)x1	MGAT4C	Copy number loss	See cases	GBenign

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Items: 27