ClinVar for Gene (Select 146167) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382411	NM_001080442.3(SLC38A8):c.884T>A (p.Ile295Asn)	SLC38A8 (I295N)	Single nucleotide variant (missense variant)	Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome	GUncertain significance
Select item 3363935	NM_001080442.3(SLC38A8):c.1003C>T (p.Pro335Ser)	SLC38A8 (P335S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362240	NM_001080442.3(SLC38A8):c.1163-3C>A	SLC38A8	Single nucleotide variant (intron variant)	Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome	GUncertain significance
Select item 3362239	NM_001080442.3(SLC38A8):c.1255G>T (p.Gly419Cys)	SLC38A8 (G419C)	Single nucleotide variant (missense variant)	Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome	GUncertain significance
Select item 3356133	NM_001080442.3(SLC38A8):c.929A>C (p.Tyr310Ser)	SLC38A8 (Y310S)	Single nucleotide variant (missense variant)	SLC38A8-related disorder	GUncertain significance
Select item 3354831	NM_001080442.3(SLC38A8):c.257C>T (p.Ala86Val)	SLC38A8 (A86V)	Single nucleotide variant (missense variant)	SLC38A8-related disorder	GUncertain significance
Select item 3353243	NM_001080442.3(SLC38A8):c.565C>T (p.Leu189=)	SLC38A8	Single nucleotide variant (synonymous variant)	SLC38A8-related disorder	GLikely benign
Select item 3339247	NM_001080442.3(SLC38A8):c.697G>C (p.Glu233Gln)	SLC38A8 (E233Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319727	NM_001080442.3(SLC38A8):c.1233G>C (p.Trp411Cys)	SLC38A8 (W411C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3319726	NM_001080442.3(SLC38A8):c.999G>C (p.Trp333Cys)	SLC38A8 (W333C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3319725	NM_001080442.3(SLC38A8):c.1170C>G (p.Cys390Trp)	SLC38A8 (C390W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3319724	NM_001080442.3(SLC38A8):c.994G>C (p.Gly332Arg)	SLC38A8 (G332R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3319723	NM_001080442.3(SLC38A8):c.1078G>T (p.Ala360Ser)	SLC38A8 (A360S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3251345	NM_001080442.3(SLC38A8):c.1126G>A (p.Gly376Arg)	SLC38A8 (G376R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243602	NC_000016.9:g.(?_84046586)_(84050912_?)dup	SLC38A8	Duplication	not provided	GLikely pathogenic
Select item 3243601	NC_000016.9:g.(?_84046586)_(84056514_?)del	SLC38A8	Deletion	not provided	GPathogenic
Select item 3243600	NC_000016.9:g.(?_84043389)_(84056514_?)del	SLC38A8	Deletion	not provided	GPathogenic
Select item 3243599	NC_000016.9:g.(?_84065452)_(84067094_?)del	SLC38A8	Deletion	not provided	GPathogenic
Select item 3243598	NC_000016.9:g.(?_84043389)_(84067094_?)del	SLC38A8	Deletion	not provided	GPathogenic
Select item 3243597	NC_000016.9:g.(?_84046586)_(84070525_?)del	SLC38A8	Deletion	not provided	GPathogenic
Select item 3243596	NC_000016.9:g.(?_84056360)_(84075762_?)del	SLC38A8	Deletion	not provided	GPathogenic
Select item 3243595	NC_000016.9:g.(?_84063079)_(84075762_?)del	SLC38A8	Deletion	not provided	GPathogenic
Select item 3243594	NC_000016.9:g.(?_84066913)_(84075762_?)del	SLC38A8	Deletion	not provided	GPathogenic
Select item 3243592	NC_000016.9:g.(?_84070287)_(84075762_?)del	SLC38A8	Deletion	not provided	GPathogenic
Select item 3243591	NC_000016.9:g.(?_84056360)_(84056514_?)del	SLC38A8	Deletion	not provided	GPathogenic
Select item 3243590	NC_000016.9:g.(?_84075554)_(84075762_?)del	SLC38A8	Deletion	not provided	GPathogenic
Select item 3242307	GRCh37/hg19 16q23.3-24.3(chr16:82865402-90163542)x3	ACSF3, ADAD2 +87 more	Copy number gain	not provided	GPathogenic
Select item 3242007	NM_001080442.3(SLC38A8):c.388+1G>C	SLC38A8	Single nucleotide variant (splice donor variant)	Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome	GLikely pathogenic
Select item 3235052	NM_001080442.3(SLC38A8):c.1053del (p.Ile352fs)	SLC38A8 (I352fs)	Deletion (frameshift variant)	Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome	GLikely pathogenic
Select item 3234609	NM_001080442.3(SLC38A8):c.230G>A (p.Gly77Asp)	SLC38A8 (G77D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3164604	NM_001080442.3(SLC38A8):c.779C>T (p.Ala260Val)	SLC38A8 (A260V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3164603	NM_001080442.3(SLC38A8):c.56C>T (p.Thr19Met)	SLC38A8 (T19M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3164602	NM_001080442.3(SLC38A8):c.44C>A (p.Pro15His)	SLC38A8 (P15H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3164600	NM_001080442.3(SLC38A8):c.292C>T (p.Pro98Ser)	SLC38A8 (P98S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3164599	NM_001080442.3(SLC38A8):c.1204C>T (p.Pro402Ser)	SLC38A8 (P402S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063475	GRCh37/hg19 16q23.3-24.1(chr16:83307393-84530337)x3	ADAD2, ATP2C2 +14 more	Copy number gain	not specified	GUncertain significance
Select item 3063461	GRCh37/hg19 16q23.3-24.1(chr16:84046622-84340916)x3	ADAD2, DNAAF1 +7 more	Copy number gain	not specified	GUncertain significance
Select item 3063401	GRCh37/hg19 16q23.3-24.1(chr16:84009532-84245489)x1	ADAD2, DNAAF1 +6 more	Copy number loss	not specified	GPathogenic
Select item 3046651	NM_001080442.3(SLC38A8):c.1021C>T (p.Pro341Ser)	SLC38A8 (P341S)	Single nucleotide variant (missense variant)	SLC38A8-related disorder	GLikely benign
Select item 3038314	NM_001080442.3(SLC38A8):c.-2-4C>G	SLC38A8	Single nucleotide variant (intron variant)	SLC38A8-related disorder	GLikely benign
Select item 3023425	NM_001080442.3(SLC38A8):c.389-13G>A	SLC38A8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3023419	NM_001080442.3(SLC38A8):c.389-16C>T	SLC38A8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3022814	NM_001080442.3(SLC38A8):c.226C>T (p.Leu76=)	SLC38A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021962	NM_001080442.3(SLC38A8):c.1163-15C>G	SLC38A8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021960	NM_001080442.3(SLC38A8):c.403dup (p.Leu135fs)	SLC38A8 (L135fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 3021935	NM_001080442.3(SLC38A8):c.597C>T (p.Pro199=)	SLC38A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021234	NM_001080442.3(SLC38A8):c.189+11G>C	SLC38A8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020548	NM_001080442.3(SLC38A8):c.805+13C>A	SLC38A8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020337	NM_001080442.3(SLC38A8):c.30C>T (p.Gly10=)	SLC38A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3020234	NM_001080442.3(SLC38A8):c.936C>T (p.Ile312=)	SLC38A8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3019606	NM_001080442.3(SLC38A8):c.388+9C>T	SLC38A8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3019049	NM_001080442.3(SLC38A8):c.772T>C (p.Leu258=)	SLC38A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3018487	NM_001080442.3(SLC38A8):c.396C>T (p.Asp132=)	SLC38A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3017826	NM_001080442.3(SLC38A8):c.1170C>T (p.Cys390=)	SLC38A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016974	NM_001080442.3(SLC38A8):c.315G>A (p.Glu105=)	SLC38A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015732	NM_001080442.3(SLC38A8):c.684G>A (p.Gly228=)	SLC38A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015128	NM_001080442.3(SLC38A8):c.729C>G (p.Arg243=)	SLC38A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013941	NM_001080442.3(SLC38A8):c.735G>A (p.Arg245=)	SLC38A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013441	NM_001080442.3(SLC38A8):c.918C>T (p.Ile306=)	SLC38A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011986	NM_001080442.3(SLC38A8):c.693T>C (p.Cys231=)	SLC38A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011348	NM_001080442.3(SLC38A8):c.711C>G (p.Ser237=)	SLC38A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010242	NM_001080442.3(SLC38A8):c.196T>C (p.Leu66=)	SLC38A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010128	NM_001080442.3(SLC38A8):c.1074G>T (p.Thr358=)	SLC38A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009761	NM_001080442.3(SLC38A8):c.603C>T (p.Gly201=)	SLC38A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009609	NM_001080442.3(SLC38A8):c.1215-6dup	SLC38A8	Duplication (intron variant)	not provided	GLikely benign
Select item 3008070	NM_001080442.3(SLC38A8):c.570C>G (p.Val190=)	SLC38A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008057	NM_001080442.3(SLC38A8):c.864C>T (p.Tyr288=)	SLC38A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007737	NM_001080442.3(SLC38A8):c.1128A>G (p.Gly376=)	SLC38A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007502	NM_001080442.3(SLC38A8):c.1041G>T (p.Arg347=)	SLC38A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007164	NM_001080442.3(SLC38A8):c.366G>T (p.Val122=)	SLC38A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005802	NM_001080442.3(SLC38A8):c.78G>A (p.Ser26=)	SLC38A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005140	NM_001080442.3(SLC38A8):c.70C>T (p.Leu24=)	SLC38A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004112	NM_001080442.3(SLC38A8):c.1281G>A (p.Thr427=)	SLC38A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004060	NM_001080442.3(SLC38A8):c.1077C>A (p.Leu359=)	SLC38A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003726	NM_001080442.3(SLC38A8):c.477G>C (p.Leu159=)	SLC38A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003644	NM_001080442.3(SLC38A8):c.273G>C (p.Val91=)	SLC38A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003561	NM_001080442.3(SLC38A8):c.792C>A (p.Ile264=)	SLC38A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003533	NM_001080442.3(SLC38A8):c.462C>A (p.Pro154=)	SLC38A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000511	NM_001080442.3(SLC38A8):c.190-18C>T	SLC38A8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000267	NM_001080442.3(SLC38A8):c.156G>A (p.Ala52=)	SLC38A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000034	NM_001080442.3(SLC38A8):c.759G>T (p.Val253=)	SLC38A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999123	NM_001080442.3(SLC38A8):c.1163-11C>G	SLC38A8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998705	NM_001080442.3(SLC38A8):c.632+7C>G	SLC38A8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998064	NM_001080442.3(SLC38A8):c.190-17C>G	SLC38A8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997969	NM_001080442.3(SLC38A8):c.366G>A (p.Val122=)	SLC38A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996003	NM_001080442.3(SLC38A8):c.1110G>A (p.Glu370=)	SLC38A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995367	NM_001080442.3(SLC38A8):c.1162+12G>C	SLC38A8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994943	NM_001080442.3(SLC38A8):c.995dup (p.Trp333fs)	SLC38A8 (W333fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2994548	NM_001080442.3(SLC38A8):c.513C>T (p.Ala171=)	SLC38A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994468	NM_001080442.3(SLC38A8):c.510C>T (p.Ile170=)	SLC38A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993931	NM_001080442.3(SLC38A8):c.633-2A>C	SLC38A8	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2993803	NM_001080442.3(SLC38A8):c.1214+12T>C	SLC38A8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993730	NM_001080442.3(SLC38A8):c.475C>T (p.Leu159=)	SLC38A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993485	NM_001080442.3(SLC38A8):c.198G>A (p.Leu66=)	SLC38A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992468	NM_001080442.3(SLC38A8):c.1215-8C>T	SLC38A8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992281	NM_001080442.3(SLC38A8):c.456C>G (p.Thr152=)	SLC38A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991843	NM_001080442.3(SLC38A8):c.388+15G>A	SLC38A8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990718	NM_001080442.3(SLC38A8):c.753C>T (p.Ala251=)	SLC38A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990414	NM_001080442.3(SLC38A8):c.1260C>G (p.Thr420=)	SLC38A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989493	NM_001080442.3(SLC38A8):c.535C>T (p.Leu179=)	SLC38A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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