"Ambry Genetics"[submitter] AND "SLC37A3"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2603142	NM_207113.3(SLC37A3):c.1450G>T (p.Val484Leu)	SLC37A3 (R295L +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2220257	NM_207113.3(SLC37A3):c.1439T>C (p.Ile480Thr)	SLC37A3 (I392T +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2527732	NM_207113.3(SLC37A3):c.1406T>C (p.Ile469Thr)	SLC37A3 (I453T +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2292286	NM_207113.3(SLC37A3):c.1117G>C (p.Gly373Arg)	SLC37A3 (G292R +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2232282	NM_207113.3(SLC37A3):c.940C>G (p.Pro314Ala)	SLC37A3 (P314A +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2384210	NM_207113.3(SLC37A3):c.859T>C (p.Cys287Arg)	SLC37A3 (C206R +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2380537	NM_207113.3(SLC37A3):c.664G>A (p.Val222Ile)	SLC37A3 (V141I +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2361852	NM_207113.3(SLC37A3):c.601C>T (p.Leu201Phe)	SLC37A3 (L201F)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2291910	NM_207113.3(SLC37A3):c.403T>C (p.Trp135Arg)	SLC37A3 (W135R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2507820	NM_207113.3(SLC37A3):c.377T>C (p.Val126Ala)	SLC37A3 (V126A)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2206155	NM_207113.3(SLC37A3):c.244C>G (p.Leu82Val)	SLC37A3 (L82V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2535975	NM_207113.3(SLC37A3):c.242C>T (p.Thr81Ile)	SLC37A3 (T81I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2232508	NM_207113.3(SLC37A3):c.232G>A (p.Glu78Lys)	SLC37A3 (E78K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2518778	NM_207113.3(SLC37A3):c.215A>G (p.His72Arg)	SLC37A3 (H72R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2352771	NM_207113.3(SLC37A3):c.164G>A (p.Ser55Asn)	SLC37A3 (S55N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2331185	NM_207113.3(SLC37A3):c.152A>G (p.Gln51Arg)	SLC37A3 (Q51R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2221730	NM_207113.3(SLC37A3):c.94T>G (p.Ser32Ala)	SLC37A3 (S32A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance