"Ambry Genetics"[submitter] AND "SLC30A4-AS1"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2244168	NM_013309.6(SLC30A4):c.1220C>G (p.Thr407Ser)	SLC30A4-AS1, SLC30A4 (T407S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341631	NM_013309.6(SLC30A4):c.1202T>A (p.Phe401Tyr)	SLC30A4-AS1, SLC30A4 (F401Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288501	NM_013309.6(SLC30A4):c.1182C>A (p.Asn394Lys)	SLC30A4, SLC30A4-AS1 (N394K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2393020	NM_013309.6(SLC30A4):c.985G>A (p.Val329Ile)	SLC30A4-AS1, SLC30A4 (V329I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491884	NM_013309.6(SLC30A4):c.775G>A (p.Gly259Arg)	SLC30A4-AS1, SLC30A4 (G259R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272913	NM_013309.6(SLC30A4):c.770G>T (p.Gly257Val)	SLC30A4-AS1, SLC30A4 (G257V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484538	NM_013309.6(SLC30A4):c.754A>C (p.Asn252His)	SLC30A4, SLC30A4-AS1 (N252H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523400	NM_013309.6(SLC30A4):c.724C>T (p.Arg242Cys)	SLC30A4, SLC30A4-AS1 (R242C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219770	NM_013309.6(SLC30A4):c.719G>T (p.Gly240Val)	SLC30A4, SLC30A4-AS1 (G240V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525130	NM_013309.6(SLC30A4):c.608T>C (p.Val203Ala)	SLC30A4, SLC30A4-AS1 (V203A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246158	NM_013309.6(SLC30A4):c.598T>A (p.Tyr200Asn)	SLC30A4, SLC30A4-AS1 (Y200N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance