ClinVar for MedGen (Select 899837) - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3237493	NM_001135146.2(SLC39A8):c.1120T>A (p.Cys374Ser)	LOC126807125, SLC39A8 (C307S +1 more)	Single nucleotide variant (missense variant)	SLC39A8-CDG	GUncertain significance
Select item 2436030	NM_001135146.2(SLC39A8):c.*1062C>T	SLC39A8	Single nucleotide variant (3 prime UTR variant +1 more)	SLC39A8-CDG	GUncertain significance
Select item 2436029	NM_001135146.2(SLC39A8):c.1372G>C (p.Glu458Gln)	SLC39A8 (E391Q +1 more)	Single nucleotide variant (missense variant +1 more)	SLC39A8-CDG	GUncertain significance
Select item 1805152	NM_001135146.2(SLC39A8):c.16_28del (p.Ala6fs)	LOC129992876, SLC39A8 (A6fs)	Deletion (frameshift variant)	SLC39A8-CDG	GUncertain significance
Select item 1686211	NM_001135146.2(SLC39A8):c.1283C>T (p.Thr428Ile)	SLC39A8 (T361I +1 more)	Single nucleotide variant (missense variant +1 more)	SLC39A8-CDG	GPathogenic
Select item 1679260	NM_001135146.2(SLC39A8):c.500G>C (p.Gly167Ala)	SLC39A8 (G100A +1 more)	Single nucleotide variant (missense variant)	SLC39A8-CDG	GUncertain significance
Select item 1269652	NM_001135146.2(SLC39A8):c.552+48C>T	SLC39A8	Single nucleotide variant (intron variant)	SLC39A8-CDG +1 more	GBenign
Select item 1210340	NM_001135146.2(SLC39A8):c.218dup (p.Cys74fs)	SLC39A8 (C74fs)	Duplication (frameshift variant)	SLC39A8-CDG	GPathogenic
Select item 1030799	NM_001135146.2(SLC39A8):c.923C>T (p.Thr308Met)	LOC126807125, SLC39A8 (T241M +1 more)	Single nucleotide variant (missense variant)	SLC39A8-CDG	GUncertain significance
Select item 1030798	NM_001135146.2(SLC39A8):c.316C>T (p.Gln106Ter)	SLC39A8 (Q106* +1 more)	Single nucleotide variant (nonsense)	SLC39A8-CDG	GLikely pathogenic
Select item 1030797	NM_001135146.2(SLC39A8):c.1026T>A (p.Cys342Ter)	LOC126807125, SLC39A8 (C342* +1 more)	Single nucleotide variant (nonsense)	SLC39A8-CDG	GLikely pathogenic
Select item 1030796	NM_001135146.2(SLC39A8):c.1020C>G (p.Ile340Met)	LOC126807125, SLC39A8 (I273M +1 more)	Single nucleotide variant (missense variant)	SLC39A8-CDG	GUncertain significance
Select item 1013495	NM_001135146.2(SLC39A8):c.965T>C (p.Ile322Thr)	LOC126807125, SLC39A8 (I255T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 869411	NM_001135146.2(SLC39A8):c.338G>C (p.Cys113Ser)	SLC39A8 (C113S +1 more)	Single nucleotide variant (missense variant)	SLC39A8-CDG	GLikely pathogenic
Select item 800792	NM_001135146.2(SLC39A8):c.915G>C (p.Trp305Cys)	LOC126807125, SLC39A8 (W238C +1 more)	Single nucleotide variant (missense variant)	SLC39A8-CDG	GUncertain significance
Select item 635074	NM_001135146.2(SLC39A8):c.337T>C (p.Cys113Arg)	SLC39A8 (C113R +1 more)	Single nucleotide variant (missense variant)	SLC39A8-CDG	GUncertain significance
Select item 432927	NM_001135146.2(SLC39A8):c.1097dup (p.Leu366fs)	LOC126807125, SLC39A8 (L366fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GUncertain significance
Select item 424757	NM_022154.5(SLC39A8):c.[97G>A;1004G>C];[c.610G>T]	LOC129992876, SLC39A8 +1 more (V33M +2 more)	Single nucleotide variant (missense variant)	SLC39A8-CDG	GPathogenic
Select item 424755	NM_022154.5(SLC39A8):c.[1019T>A];[112G>C]			SLC39A8-CDG	GPathogenic
Select item 424603	NM_001135146.2(SLC39A8):c.1166A>G (p.Asn389Ser)	LOC126807125, SLC39A8 (N389S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 218898	NM_022154.5(SLC39A8):c.[97G>A;1004G>C]	LOC129992876, SLC39A8 +1 more (V33M +2 more)	Single nucleotide variant (missense variant)	SLC39A8-CDG	GPathogenic
Select item 218897	NM_001135146.2(SLC39A8):c.610G>T (p.Gly204Cys)	SLC39A8 (G204C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 218896	NM_001135146.2(SLC39A8):c.1019T>A (p.Ile340Asn)	LOC126807125, SLC39A8 (I340N +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 218895	NM_001135146.2(SLC39A8):c.112G>C (p.Gly38Arg)	LOC129992876, SLC39A8 (G38R)	Single nucleotide variant (missense variant)	SLC39A8-CDG +1 more	GPathogenic/Likely pathogenic

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Items: 24