"Ambry Genetics"[submitter] AND "SLC44A2"[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2285105	NM_020428.4(SLC44A2):c.4G>T (p.Gly2Trp)	SLC44A2 (G2W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2217712	NM_020428.4(SLC44A2):c.47A>T (p.Gln16Leu)	SLC44A2 (Q14L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368890	NM_020428.4(SLC44A2):c.115T>A (p.Phe39Ile)	SLC44A2 (F39I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358518	NM_020428.4(SLC44A2):c.142G>A (p.Val48Met)	SLC44A2 (V46M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358870	NM_020428.4(SLC44A2):c.361C>T (p.Leu121Phe)	SLC44A2 (L119F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291540	NM_020428.4(SLC44A2):c.430A>C (p.Lys144Gln)	SLC44A2 (K142Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2347441	NM_020428.4(SLC44A2):c.509G>A (p.Arg170Gln)	SLC44A2 (R168Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2492200	NM_020428.4(SLC44A2):c.592C>T (p.Arg198Trp)	SLC44A2 (R196W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326710	NM_020428.4(SLC44A2):c.752T>C (p.Ile251Thr)	SLC44A2 (I251T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327654	NM_020428.4(SLC44A2):c.1057G>A (p.Ala353Thr)	SLC44A2 (A353T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297962	NM_020428.4(SLC44A2):c.1072A>C (p.Met358Leu)	SLC44A2 (M356L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2349874	NM_020428.4(SLC44A2):c.1214C>T (p.Ala405Val)	SLC44A2 (A403V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477650	NM_020428.4(SLC44A2):c.1235C>T (p.Thr412Ile)	SLC44A2 (T412I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282761	NM_020428.4(SLC44A2):c.1276C>T (p.Arg426Cys)	SLC44A2 (R426C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460428	NM_020428.4(SLC44A2):c.1505C>T (p.Thr502Ile)	SLC44A2 (T500I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388883	NM_020428.4(SLC44A2):c.1508G>C (p.Gly503Ala)	SLC44A2 (G503A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311924	NM_020428.4(SLC44A2):c.1533C>G (p.Ile511Met)	SLC44A2 (I511M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2622998	NM_020428.4(SLC44A2):c.1554C>G (p.Ile518Met)	SLC44A2 (I518M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218901	NM_020428.4(SLC44A2):c.1637G>C (p.Cys546Ser)	SLC44A2 (C544S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213479	NM_020428.4(SLC44A2):c.1667A>T (p.Lys556Ile)	SLC44A2 (K556I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2390493	NM_020428.4(SLC44A2):c.1724C>A (p.Thr575Asn)	SLC44A2 (T573N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396627	NM_020428.4(SLC44A2):c.1828G>A (p.Val610Ile)	SLC44A2 (V608I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231096	NM_020428.4(SLC44A2):c.1855T>C (p.Phe619Leu)	SLC44A2 (F619L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516380	NM_020428.4(SLC44A2):c.1898C>A (p.Pro633Gln)	SLC44A2 (P631Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208328	NM_020428.4(SLC44A2):c.1906A>G (p.Asn636Asp)	SLC44A2 (N636D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408748	NM_020428.4(SLC44A2):c.1939G>A (p.Val647Ile)	SLC44A2 (V645I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign

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Items: 26