ClinVar for MedGen (Select 41975) - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1686212	NM_033409.4(SLC52A3):c.446G>A (p.Gly149Asp)	SLC52A3 (G149D)	Single nucleotide variant (missense variant)	Progressive bulbar palsy of childhood +1 more	GConflicting classifications of pathogenicity
Select item 1185522	NM_033409.4(SLC52A3):c.568-200T>C	SLC52A3	Single nucleotide variant (intron variant)	Brown-Vialetto-van Laere syndrome 1 +2 more	GBenign
Select item 1185472	NM_033409.4(SLC52A3):c.1073+92T>C	SLC52A3	Single nucleotide variant (intron variant)	Brown-Vialetto-van Laere syndrome 1 +2 more	GBenign
Select item 1185471	NM_033409.4(SLC52A3):c.1197+106A>G	SLC52A3	Single nucleotide variant (intron variant)	Brown-Vialetto-van Laere syndrome 1 +2 more	GBenign
Select item 1185470	NM_033409.4(SLC52A3):c.1197+108C>T	SLC52A3	Single nucleotide variant (intron variant)	Brown-Vialetto-van Laere syndrome 1 +2 more	GBenign
Select item 856021	NM_033409.4(SLC52A3):c.58A>C (p.Ile20Leu)	SLC52A3 (I20L)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 1 +3 more	GUncertain significance
Select item 800969	NM_033409.4(SLC52A3):c.71G>A (p.Trp24Ter)	SLC52A3 (W24*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 579662	NM_033409.4(SLC52A3):c.787C>T (p.His263Tyr)	SLC52A3 (H263Y)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 570161	NM_033409.4(SLC52A3):c.890C>T (p.Pro297Leu)	SLC52A3 (P297L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 476615	NM_033409.4(SLC52A3):c.834G>A (p.Thr278=)	SLC52A3	Single nucleotide variant (synonymous variant)	Brown-Vialetto-van Laere syndrome 1 +2 more	GLikely benign
Select item 262242	NM_033409.4(SLC52A3):c.9C>T (p.Phe3=)	SLC52A3	Single nucleotide variant (synonymous variant)	SLC52A3-related condition +5 more	GBenign/Likely benign
Select item 262241	NM_033409.4(SLC52A3):c.907A>G (p.Ile303Val)	SLC52A3 (I303V)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 1 +3 more	GBenign
Select item 262240	NM_033409.4(SLC52A3):c.833C>T (p.Thr278Met)	SLC52A3 (T278M)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 262238	NM_033409.4(SLC52A3):c.765C>T (p.Leu255=)	SLC52A3	Single nucleotide variant (synonymous variant)	Brown-Vialetto-van Laere syndrome 1 +3 more	GBenign
Select item 262236	NM_033409.4(SLC52A3):c.600C>T (p.Pro200=)	SLC52A3	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 262233	NM_033409.4(SLC52A3):c.321C>T (p.Ala107=)	SLC52A3	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 262232	NM_033409.4(SLC52A3):c.240C>T (p.Gly80=)	SLC52A3	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 262230	NM_033409.4(SLC52A3):c.1233T>C (p.Ser411=)	SLC52A3	Single nucleotide variant (synonymous variant)	Brown-Vialetto-van Laere syndrome 1 +3 more	GBenign
Select item 262228	NM_033409.4(SLC52A3):c.-14_-6del	SLC52A3	Deletion (5 prime UTR variant)	Brown-Vialetto-van Laere syndrome 1 +3 more	GBenign
Select item 210029	NM_033409.4(SLC52A3):c.1371C>G (p.Phe457Leu)	SLC52A3 (F457L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 210025	NM_033409.4(SLC52A3):c.1198-2A>C	SLC52A3	Single nucleotide variant (splice acceptor variant)	Progressive bulbar palsy of childhood	GPathogenic
Select item 210018	NM_033409.4(SLC52A3):c.639C>G (p.Tyr213Ter)	SLC52A3 (Y213*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +3 more	GPathogenic
Select item 143	NM_033409.4(SLC52A3):c.106G>A (p.Glu36Lys)	SLC52A3 (E36K)	Single nucleotide variant (missense variant)	Progressive bulbar palsy of childhood +2 more	GConflicting classifications of pathogenicity

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Items: 23