SLC38A8[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059829, LOC130059830 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC108281164, LOC109029536 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	LOC130059834, LOC130059835 +1424 more	Copy number gain	See cases	GPathogenic
Select item 144332	GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1	ADAD2, ADAMTS18 +591 more	Copy number loss	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	LOC130059850, LOC130059851 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	PKD1L2, PKD1L3 +1031 more	Copy number gain	See cases	GPathogenic
Select item 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	LOC130059772, LOC130059773 +832 more	Copy number gain	See cases	GPathogenic
Select item 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	LOC132090418, LOC132090419 +788 more	Copy number gain	See cases	GPathogenic
Select item 58647	GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3	ACSF3, ADAD2 +781 more	Copy number gain	See cases	GPathogenic
Select item 59517	GRCh38/hg38 16q23.1-24.2(chr16:78704275-87819342)x1	LOC130059506, LOC130059507 +447 more	Copy number loss	See cases	GPathogenic
Select item 57187	GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3	LOC130059746, LOC130059747 +719 more	Copy number gain	See cases	GPathogenic
Select item 154631	GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3	LOC130059500, LOC130059501 +691 more	Copy number gain	See cases	GPathogenic
Select item 152591	GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3	LOC132090448, LOC132090449 +677 more	Copy number gain	See cases	GPathogenic
Select item 147748	GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3	LOC130059591, LOC130059592 +670 more	Copy number gain	See cases	GPathogenic
Select item 59518	GRCh38/hg38 16q23.3-24.1(chr16:81753762-85714791)x1	ADAD2, ATP2C2 +211 more	Copy number loss	See cases	GPathogenic
Select item 58648	GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3	LOC130059691, LOC130059692 +566 more	Copy number gain	See cases	GPathogenic
Select item 59519	GRCh38/hg38 16q23.3-24.1(chr16:83016872-85087809)x1	ADAD2, ATP2C2 +106 more	Copy number loss	See cases	GPathogenic
Select item 144447	GRCh38/hg38 16q23.3-24.1(chr16:83399060-84908120)x1	ADAD2, ATP2C2 +93 more	Copy number loss	See cases	GPathogenic
Select item 149552	GRCh38/hg38 16q23.3(chr16:83478453-84036483)x3	CDH13, CDH13-AS2 +21 more	Copy number gain	See cases	GUncertain significance
Select item 148918	GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3	ACSF3, ADAD2 +531 more	Copy number gain	See cases	GLikely pathogenic
Select item 60063	GRCh38/hg38 16q23.3(chr16:83602431-84024341)x3	CDH13, CDH13-AS2 +19 more	Copy number gain	See cases	GUncertain significance
Select item 147286	GRCh38/hg38 16q23.3-24.1(chr16:83687650-86073240)x1	ADAD2, CIBAR2 +203 more	Copy number loss	See cases	GPathogenic
Select item 152236	GRCh38/hg38 16q23.3-24.1(chr16:83763804-84276472)x3	ADAD2, CDH13 +36 more	Copy number gain	See cases	GUncertain significance
Select item 150582	GRCh38/hg38 16q23.3-24.1(chr16:83763804-84558035)x1	ADAD2, ATP2C2 +55 more	Copy number loss	See cases	GUncertain significance
Select item 60064	GRCh38/hg38 16q23.3(chr16:83796168-84063463)x3	CDH13, CDH13-AS2 +17 more	Copy number gain	See cases	GUncertain significance
Select item 146470	GRCh38/hg38 16q23.3-24.1(chr16:83878992-84908120)x3	ADAD2, KCNG4 +80 more	Copy number gain	See cases	GUncertain significance
Select item 57422	GRCh38/hg38 16q23.3-24.2(chr16:83878992-87223838)x1	LOC130059603, LOC130059604 +227 more	Copy number loss	See cases	GPathogenic
Select item 146355	GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3	ACSF3, ADAD2 +534 more	Copy number gain	See cases	GLikely pathogenic
Select item 1222039	NC_000016.10:g.84009524T>C	SLC38A8	Single nucleotide variant	not provided	GBenign
Select item 1261175	NM_001080442.3(SLC38A8):c.*9T>C	SLC38A8	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1601693	NM_001080442.3(SLC38A8):c.1305C>G (p.Phe435Leu)	SLC38A8 (F435L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2988114	NM_001080442.3(SLC38A8):c.1293C>A (p.Val431=)	SLC38A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2963383	NM_001080442.3(SLC38A8):c.1293C>T (p.Val431=)	SLC38A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 730612	NM_001080442.3(SLC38A8):c.1291G>A (p.Val431Ile)	SLC38A8 (V431I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2897870	NM_001080442.3(SLC38A8):c.1290G>A (p.Ala430=)	SLC38A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2893571	NM_001080442.3(SLC38A8):c.1290G>T (p.Ala430=)	SLC38A8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2370914	NM_001080442.3(SLC38A8):c.1289C>T (p.Ala430Val)	SLC38A8 (A430V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2984490	NM_001080442.3(SLC38A8):c.1284G>A (p.Ala428=)	SLC38A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975730	NM_001080442.3(SLC38A8):c.1284G>C (p.Ala428=)	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 777048	NM_001080442.3(SLC38A8):c.1280C>T (p.Thr427Met)	SLC38A8 (T427M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2893155	NM_001080442.3(SLC38A8):c.1278C>T (p.Ser426=)	SLC38A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2568614	NM_001080442.3(SLC38A8):c.1277G>C (p.Ser426Thr)	SLC38A8 (S426T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290591	NM_001080442.3(SLC38A8):c.1276A>G (p.Ser426Gly)	SLC38A8 (S426G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2990414	NM_001080442.3(SLC38A8):c.1260C>G (p.Thr420=)	SLC38A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1311856	NM_001080442.3(SLC38A8):c.1256G>T (p.Gly419Val)	SLC38A8 (G419V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2720310	NM_001080442.3(SLC38A8):c.1254C>T (p.Val418=)	SLC38A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2964529	NM_001080442.3(SLC38A8):c.1251G>A (p.Leu417=)	SLC38A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2708619	NM_001080442.3(SLC38A8):c.1249C>T (p.Leu417=)	SLC38A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2778135	NM_001080442.3(SLC38A8):c.1248G>A (p.Val416=)	SLC38A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1442896	NM_001080442.3(SLC38A8):c.1243T>G (p.Ser415Ala)	SLC38A8 (S415A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2962362	NM_001080442.3(SLC38A8):c.1242C>G (p.Val414=)	SLC38A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 125445	NM_001080442.3(SLC38A8):c.1234G>A (p.Gly412Arg)	SLC38A8 (G412R)	Single nucleotide variant (missense variant)	FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE MISROUTING	GPathogenic
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 2835725	NM_001080442.3(SLC38A8):c.1222C>T (p.Leu408=)	SLC38A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2771831	NM_001080442.3(SLC38A8):c.1218C>T (p.Cys406=)	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 2992468	NM_001080442.3(SLC38A8):c.1215-8C>T	SLC38A8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983842	NM_001080442.3(SLC38A8):c.1215-10C>G	SLC38A8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2708920	NM_001080442.3(SLC38A8):c.1215-10C>A	SLC38A8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1594832	NM_001080442.3(SLC38A8):c.1215-10C>T	SLC38A8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978988	NM_001080442.3(SLC38A8):c.1215-13A>G	SLC38A8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2803854	NM_001080442.3(SLC38A8):c.1215-15T>A	SLC38A8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2870726	NM_001080442.3(SLC38A8):c.1215-16T>C	SLC38A8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976654	NM_001080442.3(SLC38A8):c.1215-17G>T	SLC38A8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1273027	NM_001080442.3(SLC38A8):c.1214+204C>G	SLC38A8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255060	NM_001080442.3(SLC38A8):c.1214+194A>G	SLC38A8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278504	NM_001080442.3(SLC38A8):c.1214+174T>C	SLC38A8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255227	NM_001080442.3(SLC38A8):c.1214+116C>T	SLC38A8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241075	NM_001080442.3(SLC38A8):c.1214+107G>A	SLC38A8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2959414	NM_001080442.3(SLC38A8):c.1214+16A>G	SLC38A8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993803	NM_001080442.3(SLC38A8):c.1214+12T>C	SLC38A8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986547	NM_001080442.3(SLC38A8):c.1214+11C>T	SLC38A8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2726879	NM_001080442.3(SLC38A8):c.1214+10C>G	SLC38A8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2876116	NM_001080442.3(SLC38A8):c.1214+9C>A	SLC38A8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2716877	NM_001080442.3(SLC38A8):c.1214+9C>T	SLC38A8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1503828	NM_001080442.3(SLC38A8):c.1214+2T>G	SLC38A8	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2446429	NM_001080442.3(SLC38A8):c.1214+1G>T	SLC38A8	Single nucleotide variant (splice donor variant)	Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome	GUncertain significance
Select item 2720744	NM_001080442.3(SLC38A8):c.1212C>G (p.Val404=)	SLC38A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1358576	NM_001080442.3(SLC38A8):c.1205C>T (p.Pro402Leu)	SLC38A8 (P402L)	Single nucleotide variant (missense variant)	not provided	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 2746058	NM_001080442.3(SLC38A8):c.1194G>A (p.Glu398=)	SLC38A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977816	NM_001080442.3(SLC38A8):c.1191C>G (p.Val397=)	SLC38A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2885382	NM_001080442.3(SLC38A8):c.1191C>T (p.Val397=)	SLC38A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2385390	NM_001080442.3(SLC38A8):c.1183A>G (p.Met395Val)	SLC38A8 (M395V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2852225	NM_001080442.3(SLC38A8):c.1182A>T (p.Ala394=)	SLC38A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1401708	NM_001080442.3(SLC38A8):c.1181C>T (p.Ala394Val)	SLC38A8 (A394V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2784546	NM_001080442.3(SLC38A8):c.1176C>T (p.Ile392=)	SLC38A8	Single nucleotide variant (synonymous variant)	not provided	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 3017826	NM_001080442.3(SLC38A8):c.1170C>T (p.Cys390=)	SLC38A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2795168	NM_001080442.3(SLC38A8):c.1163-2A>T	SLC38A8	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2737119	NM_001080442.3(SLC38A8):c.1163-5T>C	SLC38A8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966380	NM_001080442.3(SLC38A8):c.1163-9T>A	SLC38A8	Single nucleotide variant (intron 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 2970446	NM_001080442.3(SLC38A8):c.1163-11C>T	SLC38A8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960509	NM_001080442.3(SLC38A8):c.1163-12T>C	SLC38A8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955668	NM_001080442.3(SLC38A8):c.1163-13G>T	SLC38A8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2796564	NM_001080442.3(SLC38A8):c.1163-13G>C	SLC38A8	Single nucleotide variant (intron variant)	not provided	GLikely benign

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