SLC30A4-AS1[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150128	GRCh38/hg38 15q21.1(chr15:44765914-45476854)x3	AFG2B, C15orf48 +42 more	Copy number gain	See cases	GUncertain significance
Select item 155188	GRCh38/hg38 15q21.1(chr15:45026980-45579878)x3	LOC130057000, LOC130057001 +40 more	Copy number gain	See cases	GUncertain significance
Select item 155435	GRCh38/hg38 15q21.1(chr15:45032714-45592481)x3	AFG2B, BLOC1S6 +42 more	Copy number gain	See cases	GUncertain significance
Select item 2244168	NM_013309.6(SLC30A4):c.1220C>G (p.Thr407Ser)	SLC30A4, SLC30A4-AS1 (T407S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319511	NM_013309.6(SLC30A4):c.1211A>T (p.Tyr404Phe)	SLC30A4, SLC30A4-AS1 (Y404F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341631	NM_013309.6(SLC30A4):c.1202T>A (p.Phe401Tyr)	SLC30A4, SLC30A4-AS1 (F401Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288501	NM_013309.6(SLC30A4):c.1182C>A (p.Asn394Lys)	SLC30A4, SLC30A4-AS1 (N394K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2393020	NM_013309.6(SLC30A4):c.985G>A (p.Val329Ile)	SLC30A4, SLC30A4-AS1 (V329I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491884	NM_013309.6(SLC30A4):c.775G>A (p.Gly259Arg)	SLC30A4, SLC30A4-AS1 (G259R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272913	NM_013309.6(SLC30A4):c.770G>T (p.Gly257Val)	SLC30A4, SLC30A4-AS1 (G257V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484538	NM_013309.6(SLC30A4):c.754A>C (p.Asn252His)	SLC30A4, SLC30A4-AS1 (N252H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523400	NM_013309.6(SLC30A4):c.724C>T (p.Arg242Cys)	SLC30A4, SLC30A4-AS1 (R242C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219770	NM_013309.6(SLC30A4):c.719G>T (p.Gly240Val)	SLC30A4, SLC30A4-AS1 (G240V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319510	NM_013309.6(SLC30A4):c.620T>C (p.Ile207Thr)	SLC30A4, SLC30A4-AS1 (I207T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525130	NM_013309.6(SLC30A4):c.608T>C (p.Val203Ala)	SLC30A4, SLC30A4-AS1 (V203A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246158	NM_013309.6(SLC30A4):c.598T>A (p.Tyr200Asn)	SLC30A4, SLC30A4-AS1 (Y200N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance