"Ambry Genetics"[submitter] AND "SLC35F4"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2231149	NM_001306087.2(SLC35F4):c.1250A>G (p.Asn417Ser)	SLC35F4 (N417S +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2274234	NM_001306087.2(SLC35F4):c.1223A>G (p.Asp408Gly)	SLC35F4 (D405G +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2407502	NM_001306087.2(SLC35F4):c.1204C>T (p.Pro402Ser)	SLC35F4 (P128S +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2479884	NM_001306087.2(SLC35F4):c.1033C>T (p.Pro345Ser)	SLC35F4 (P323S +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2599468	NM_001306087.2(SLC35F4):c.899C>T (p.Ala300Val)	SLC35F4 (A299V +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2494289	NM_001306087.2(SLC35F4):c.872C>G (p.Ala291Gly)	SLC35F4 (A17G +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2469461	NM_001306087.2(SLC35F4):c.842T>C (p.Val281Ala)	SLC35F4 (V278A +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2346383	NM_001306087.2(SLC35F4):c.810A>G (p.Ile270Met)	SLC35F4 (I248M +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2250841	NM_001306087.2(SLC35F4):c.802G>A (p.Val268Met)	SLC35F4 (V265M +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2294860	NM_001306087.2(SLC35F4):c.511A>G (p.Ile171Val)	SLC35F4 (I149V +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2324432	NM_001306087.2(SLC35F4):c.436A>T (p.Thr146Ser)	SLC35F4 (T145S +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2373987	NM_001306087.2(SLC35F4):c.371T>C (p.Met124Thr)	SLC35F4 (M1T +4 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2508271	NM_001306087.2(SLC35F4):c.365C>T (p.Thr122Met)	SLC35F4 (T100M +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2476925	NM_001306087.2(SLC35F4):c.365C>A (p.Thr122Lys)	SLC35F4 (T119K +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2515709	NM_001306087.2(SLC35F4):c.362G>C (p.Cys121Ser)	SLC35F4 (C121S +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2602017	NM_001306087.2(SLC35F4):c.310C>T (p.His104Tyr)	SLC35F4 (H104Y +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2478179	NM_001306087.2(SLC35F4):c.193T>C (p.Ser65Pro)	SLC35F4 (S44P +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2485505	NM_001306087.2(SLC35F4):c.172A>G (p.Ser58Gly)	SLC35F4 (S37G +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2207229	NM_001306087.2(SLC35F4):c.13G>A (p.Ala5Thr)	SLC35F4 (A5T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance