"Ambry Genetics"[submitter] AND "MGAT4B"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2460368	NM_014275.5(MGAT4B):c.1642G>A (p.Asp548Asn)	MGAT4B (D548N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404801	NM_014275.5(MGAT4B):c.1474C>T (p.Arg492Trp)	MGAT4B (R492W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2384339	NM_014275.5(MGAT4B):c.1420G>A (p.Asp474Asn)	MGAT4B (D489N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268019	NM_014275.5(MGAT4B):c.1355G>A (p.Arg452His)	MGAT4B (R452H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346320	NM_014275.5(MGAT4B):c.1177C>T (p.Arg393Trp)	MGAT4B (R393W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231848	NM_014275.5(MGAT4B):c.893C>G (p.Ser298Cys)	MGAT4B (S298C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227229	NM_014275.5(MGAT4B):c.833G>A (p.Ser278Asn)	MGAT4B (S278N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542528	NM_014275.5(MGAT4B):c.811G>A (p.Val271Met)	MGAT4B (V286M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2593626	NM_014275.5(MGAT4B):c.658C>G (p.His220Asp)	MGAT4B (H220D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604072	NM_014275.5(MGAT4B):c.533C>T (p.Ser178Leu)	MGAT4B (S178L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2612114	NM_014275.5(MGAT4B):c.406G>A (p.Gly136Ser)	MGAT4B (G136S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460307	NM_014275.5(MGAT4B):c.401G>A (p.Arg134His)	MGAT4B (R134H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360892	NM_014275.5(MGAT4B):c.337C>T (p.Pro113Ser)	MGAT4B (P113S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595705	NM_014275.5(MGAT4B):c.320G>A (p.Arg107Gln)	MGAT4B (R107Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293170	NM_014275.5(MGAT4B):c.309C>G (p.Asn103Lys)	MGAT4B (N118K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323623	NM_014275.5(MGAT4B):c.274C>T (p.Arg92Cys)	MGAT4B (R92C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604947	NM_014275.5(MGAT4B):c.262C>T (p.Arg88Cys)	MGAT4B (R103C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366925	NM_014275.5(MGAT4B):c.247G>A (p.Asp83Asn)	MGAT4B (D83N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245185	NM_014275.5(MGAT4B):c.112G>A (p.Val38Ile)	MGAT4B (V38I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483238	NM_014275.5(MGAT4B):c.98-52C>G	MGAT4B (R31G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2349060	NM_014275.5(MGAT4B):c.98-85C>T	MGAT4B (P20S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2380674	NM_014275.5(MGAT4B):c.98-130G>A	MGAT4B (A5T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2229913	NM_014275.5(MGAT4B):c.58C>T (p.Leu20Phe)	MGAT4B, SQSTM1 (L20F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 23