ClinVar for MedGen (Select 1621949) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3061863	NM_006345.4(SLC30A9):c.1145-8A>G	SLC30A9	Single nucleotide variant (intron variant)	Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome	GUncertain significance
Select item 1878602	NM_006345.4(SLC30A9):c.947G>A (p.Gly316Asp)	SLC30A9 (G316D)	Single nucleotide variant (missense variant)	Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome	GUncertain significance
Select item 1723220	NM_006345.4(SLC30A9):c.543G>A (p.Trp181Ter)	SLC30A9 (W181*)	Single nucleotide variant (nonsense)	Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome	GLikely pathogenic
Select item 1333196	NM_006345.4(SLC30A9):c.840+1G>A	SLC30A9	Single nucleotide variant (splice donor variant)	Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome	GLikely pathogenic
Select item 1333134	NM_006345.4(SLC30A9):c.527+35A>G	SLC30A9	Single nucleotide variant (intron variant)	Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome	GBenign
Select item 1333133	NM_006345.4(SLC30A9):c.366C>A (p.Gly122=)	SLC30A9	Single nucleotide variant (synonymous variant)	Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome	GBenign
Select item 1333132	NM_006345.4(SLC30A9):c.289A>G (p.Thr97Ala)	SLC30A9 (T97A)	Single nucleotide variant (missense variant)	Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome	GBenign
Select item 1333131	NM_006345.4(SLC30A9):c.274+38C>G	SLC30A9	Single nucleotide variant (intron variant)	Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome	GBenign
Select item 1333130	NM_006345.4(SLC30A9):c.148A>G (p.Met50Val)	SLC30A9 (M50V)	Single nucleotide variant (missense variant)	Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome	GBenign
Select item 1300169	NM_006345.4(SLC30A9):c.86_87dup (p.Cys30fs)	SLC30A9 (C30fs)	Duplication (frameshift variant)	Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome	GLikely pathogenic
Select item 1300159	NM_006345.4(SLC30A9):c.40del (p.Ser14fs)	SLC30A9 (S14fs)	Deletion (frameshift variant)	Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1242979	NM_006345.4(SLC30A9):c.9C>G (p.Pro3=)	SLC30A9	Single nucleotide variant (synonymous variant)	Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome +1 more	GBenign
Select item 431049	NM_006345.4(SLC30A9):c.1049_1051del (p.Ala350del)	SLC30A9 (A350del)	Deletion (inframe_deletion)	Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome	GPathogenic