ClinVar for Gene (Select 23516) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3359537	NM_001128431.4(SLC39A14):c.781G>C (p.Glu261Gln)	SLC39A14 (E261Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359533	NM_001128431.4(SLC39A14):c.939+6T>C	SLC39A14	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3339614	NM_001128431.4(SLC39A14):c.751-14del	SLC39A14	Deletion (intron variant)	not specified	GLikely benign
Select item 3164665	NM_001128431.4(SLC39A14):c.985C>T (p.Arg329Cys)	SLC39A14 (R339C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3164664	NM_001128431.4(SLC39A14):c.520G>A (p.Val174Met)	SLC39A14 (V174M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3164663	NM_001128431.4(SLC39A14):c.1205A>G (p.Asn402Ser)	SLC39A14 (N402S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063038	GRCh37/hg19 8p21.3-11.1(chr8:20136266-43786723)x3	ADAM18, ADAM2 +150 more	Copy number gain	not specified	GPathogenic
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	ADAM18, ADAM2 +234 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3020645	NM_001128431.4(SLC39A14):c.1134C>T (p.Phe378=)	SLC39A14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009182	NM_001128431.4(SLC39A14):c.1158C>T (p.Val386=)	SLC39A14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006067	NM_001128431.4(SLC39A14):c.342C>G (p.Leu114=)	SLC39A14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997709	NM_001128431.4(SLC39A14):c.441G>T (p.Arg147=)	SLC39A14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994430	NM_001128431.4(SLC39A14):c.792C>G (p.Pro264=)	SLC39A14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988513	NM_001128431.4(SLC39A14):c.75C>T (p.Thr25=)	SLC39A14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983449	NM_001128431.4(SLC39A14):c.940-17G>T	SLC39A14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982904	NM_001128431.4(SLC39A14):c.906C>T (p.Asp302=)	SLC39A14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2968833	NM_001128431.4(SLC39A14):c.1147+18G>A	SLC39A14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960506	NM_015359.6(SLC39A14):c.603C>T (p.Asn201=)	SLC39A14	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2955954	NM_015359.6(SLC39A14):c.543G>A (p.Ala181=)	SLC39A14	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2899926	NM_001128431.4(SLC39A14):c.1147+7G>A	SLC39A14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2891096	NM_001128431.4(SLC39A14):c.591C>T (p.Thr197=)	SLC39A14	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2871301	NM_001128431.4(SLC39A14):c.51C>T (p.Thr17=)	SLC39A14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2864996	NM_001128431.4(SLC39A14):c.750+15T>C	SLC39A14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2847891	NM_015359.6(SLC39A14):c.620T>C (p.Ile207Thr)	SLC39A14 (I207T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2835905	NM_001128431.4(SLC39A14):c.1147+10C>A	SLC39A14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2832928	NM_001128431.4(SLC39A14):c.1423G>C (p.Gly475Arg)	SLC39A14 (G475R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2820995	NM_001128431.4(SLC39A14):c.8TGC[6] (p.Leu6_His7insLeuLeu)	SLC39A14	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2806447	NM_001128431.4(SLC39A14):c.198C>G (p.Leu66=)	SLC39A14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2764757	NM_001128431.4(SLC39A14):c.102T>A (p.Gly34=)	SLC39A14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2748923	NM_001128431.4(SLC39A14):c.1446C>T (p.Leu482=)	SLC39A14	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2725185	NM_001128431.4(SLC39A14):c.387C>G (p.Ala129=)	SLC39A14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2716143	NM_001128431.4(SLC39A14):c.79G>A (p.Glu27Lys)	SLC39A14 (E27K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685301	GRCh37/hg19 8p23.1-21.1(chr8:12490999-28150620)x1	HR, MIR320A +95 more	Copy number loss	not provided	GPathogenic
Select item 2684529	GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3	ADAM18, ADAM2 +176 more	Copy number gain	not provided	GPathogenic
Select item 2684528	GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3	ADAM28, ADAM7 +145 more	Copy number gain	not provided	GPathogenic
Select item 2684526	GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3	ADAM28, ADAM7 +140 more	Copy number gain	not provided	GPathogenic
Select item 2684517	GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3	SMIM18, SORBS3 +225 more	Copy number gain	not provided	GPathogenic
Select item 2682584	NM_001128431.4(SLC39A14):c.21C>G (p.His7Gln)	SLC39A14 (H17Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2671608	Single allele	ADAM18, ADAM2 +180 more	Duplication	not provided	GPathogenic
Select item 2671605	Single allele	BIN3, BMP1 +24 more	Duplication	not provided	GUncertain significance
Select item 2658467	NM_001128431.4(SLC39A14):c.939+1G>A	SLC39A14	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2584650	NM_001128431.4(SLC39A14):c.134A>G (p.Gln45Arg)	SLC39A14 (Q45R +1 more)	Single nucleotide variant (missense variant)	Hyperostosis cranialis interna	GUncertain significance
Select item 2579290	GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	LOC126860300, LOC126860301 +720 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 2579268	GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1	ADAM28, ADAM7 +567 more	Copy number loss	Microcephaly	GPathogenic
Select item 2555362	NM_001128431.4(SLC39A14):c.751C>T (p.His251Tyr)	SLC39A14 (H261Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506025	NM_001128431.4(SLC39A14):c.628-2A>G	SLC39A14	Single nucleotide variant (splice acceptor variant)	Hypermanganesemia with dystonia 2	GLikely pathogenic
Select item 2499083	GRCh37/hg19 8p21.3-21.2(chr8:21925038-26372195)x1	ADAM28, ADAM7 +46 more	Copy number loss	not provided	GLikely pathogenic
Select item 2489022	NM_001128431.4(SLC39A14):c.793T>A (p.Ser265Thr)	SLC39A14 (S275T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2444796	NM_001128431.4(SLC39A14):c.448G>A (p.Ala150Thr)	SLC39A14 (A150T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2412790	NM_001128431.4(SLC39A14):c.1301G>A (p.Gly434Glu)	SLC39A14 (G434E +1 more)	Single nucleotide variant (missense variant)	Hyperostosis cranialis interna	GUncertain significance
Select item 2346831	NM_001128431.4(SLC39A14):c.26C>T (p.Ala9Val)	SLC39A14 (A9V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235895	NM_001128431.4(SLC39A14):c.458-5G>A	SLC39A14	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2220061	NM_001128431.4(SLC39A14):c.412GAG[1] (p.Glu139del)	SLC39A14 (E139del +1 more)	Microsatellite (inframe_deletion)	Inborn genetic diseases	GUncertain significance
Select item 2218340	NM_001128431.4(SLC39A14):c.1174G>A (p.Gly392Arg)	SLC39A14 (G402R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211002	NM_001128431.4(SLC39A14):c.323G>A (p.Arg108Gln)	SLC39A14 (R108Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2203221	NM_001128431.4(SLC39A14):c.907G>A (p.Glu303Lys)	SLC39A14 (E303K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2192696	NM_001128431.4(SLC39A14):c.866A>C (p.His289Pro)	SLC39A14 (H289P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2192246	NM_001128431.4(SLC39A14):c.395C>T (p.Ser132Leu)	SLC39A14 (S132L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2190823	NM_001128431.4(SLC39A14):c.136G>A (p.Asp46Asn)	SLC39A14 (D46N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2187122	NM_001128431.4(SLC39A14):c.269C>T (p.Thr90Met)	SLC39A14 (T90M +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2184495	NM_001128431.4(SLC39A14):c.519C>T (p.Ser173=)	SLC39A14	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2184412	NM_001128431.4(SLC39A14):c.786G>A (p.Ser262=)	SLC39A14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2182442	NM_001128431.4(SLC39A14):c.243C>T (p.His81=)	SLC39A14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2178627	NM_001128431.4(SLC39A14):c.885C>T (p.Asp295=)	SLC39A14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2176369	NM_001128431.4(SLC39A14):c.458-6C>T	SLC39A14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2176282	NM_001128431.4(SLC39A14):c.676G>A (p.Val226Met)	SLC39A14 (V226M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2168294	NM_001128431.4(SLC39A14):c.32A>G (p.Gln11Arg)	SLC39A14 (Q21R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2167576	NM_001128431.4(SLC39A14):c.1008G>A (p.Leu336=)	SLC39A14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2165516	NM_001128431.4(SLC39A14):c.468C>T (p.Tyr156=)	SLC39A14	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2164552	NM_001128431.4(SLC39A14):c.1170C>T (p.Asn390=)	SLC39A14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2158269	NM_001128431.4(SLC39A14):c.1407C>T (p.Asn469=)	SLC39A14	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2126794	NM_001128431.4(SLC39A14):c.991T>G (p.Ser331Ala)	SLC39A14 (S331A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2117992	NM_001128431.4(SLC39A14):c.662T>G (p.Val221Gly)	SLC39A14 (V221G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2113029	NM_001128431.4(SLC39A14):c.120T>C (p.Ala40=)	SLC39A14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2094818	NM_015359.6(SLC39A14):c.458-1G>T	SLC39A14	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 2091463	NM_001128431.4(SLC39A14):c.178C>T (p.Gln60Ter)	SLC39A14 (Q70* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2082721	NM_001128431.4(SLC39A14):c.717G>A (p.Lys239=)	SLC39A14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2082654	NM_001128431.4(SLC39A14):c.440G>A (p.Arg147Gln)	SLC39A14 (R147Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2080944	NM_001128431.4(SLC39A14):c.824A>T (p.Glu275Val)	SLC39A14 (E285V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2075481	NM_001128431.4(SLC39A14):c.1257C>T (p.Ala419=)	SLC39A14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2071921	NM_001128431.4(SLC39A14):c.603C>T (p.Asn201=)	SLC39A14	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2059352	NM_001128431.4(SLC39A14):c.1475G>A (p.Gly492Glu)	SLC39A14 (G502E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2052276	NM_001128431.4(SLC39A14):c.80A>G (p.Glu27Gly)	SLC39A14 (E27G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2047028	NM_001128431.4(SLC39A14):c.321G>A (p.Ser107=)	SLC39A14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2045076	NM_001128431.4(SLC39A14):c.458-9G>A	SLC39A14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2008978	NM_001128431.4(SLC39A14):c.496C>T (p.Leu166Phe)	SLC39A14 (L166F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2003942	NM_001128431.4(SLC39A14):c.518G>T (p.Ser173Ile)	SLC39A14 (S173I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1990483	NM_001128431.4(SLC39A14):c.752A>G (p.His251Arg)	SLC39A14 (H261R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1990434	NM_001128431.4(SLC39A14):c.1147+11G>A	SLC39A14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1990263	NM_001128431.4(SLC39A14):c.1147+17C>T	SLC39A14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1989045	NM_001128431.4(SLC39A14):c.223C>T (p.Arg75Trp)	SLC39A14 (R75W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1979259	NM_001128431.4(SLC39A14):c.417G>T (p.Glu139Asp)	SLC39A14 (E149D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1976751	NM_001128431.4(SLC39A14):c.1148-16A>G	SLC39A14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1972888	NM_001128431.4(SLC39A14):c.1098C>T (p.Gly366=)	SLC39A14	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1972346	NM_001128431.4(SLC39A14):c.1176G>A (p.Gly392=)	SLC39A14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1972163	NM_001128431.4(SLC39A14):c.885C>A (p.Asp295Glu)	SLC39A14 (D305E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1971889	NM_001128431.4(SLC39A14):c.437G>A (p.Gly146Glu)	SLC39A14 (G156E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1970709	NM_001128431.4(SLC39A14):c.1089T>C (p.Val363=)	SLC39A14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1963456	NM_001128431.4(SLC39A14):c.873C>T (p.Ser291=)	SLC39A14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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