23516[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59735	GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3	ADAM28, ADAM7 +979 more	Copy number gain	See cases	GPathogenic
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	AARD, ABRA +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	LOC129999937, LOC129999938 +3658 more	Copy number gain	See cases	GPathogenic
Select item 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC129999850, LOC129999851 +1038 more	Copy number gain	See cases	GPathogenic
Select item 148741	GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3	LOC126860345, LOC126860346 +1103 more	Copy number gain	See cases	GPathogenic
Select item 146718	GRCh38/hg38 8p23.3-21.3(chr8:241530-23198398)x3	AGPAT5, ANGPT2 +687 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	PKHD1L1, PKIA +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC126860501, LOC126860502 +3652 more	Copy number gain	See cases	GPathogenic
Select item 149882	GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3	LOC130000150, LOC130000151 +996 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	MIR7705, MIR7848 +3656 more	Copy number gain	See cases	GPathogenic
Select item 146786	GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3	ADAM28, ADAM7 +736 more	Copy number gain	See cases	GPathogenic
Select item 2579290	GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	DMTN, DOK2 +720 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 161037	GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1	MIR4660, MIR548H4 +773 more	Copy number loss	See cases	GPathogenic
Select item 32400	GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1	ADAM28, ADAM7 +773 more	Copy number loss	See cases	GPathogenic
Select item 151133	GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3	DUSP4, EBF2 +1018 more	Copy number gain	See cases	GPathogenic
Select item 150733	GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3	ADAM28, ADAM7 +694 more	Copy number gain	See cases	GPathogenic
Select item 148174	GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3	ADAM18, ADAM2 +935 more	Copy number gain	See cases	GPathogenic
Select item 149191	GRCh38/hg38 8p23.1-21.1(chr8:12382844-28625564)x3	ADAM28, ADAM7 +499 more	Copy number gain	See cases	GPathogenic
Select item 154449	GRCh38/hg38 8p23.1-12(chr8:12383584-29033946)x1	LOC132089588, LOC132089589 +510 more	Copy number loss	See cases	GPathogenic
Select item 146257	GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3	LOC130000086, LOC130000087 +932 more	Copy number gain	See cases	GPathogenic
Select item 57442	GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3	ADAM28, ADAM7 +663 more	Copy number gain	See cases	GPathogenic
Select item 161033	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	LOC121331299, LOC121331300 +868 more	Copy number gain	See cases	GPathogenic
Select item 146507	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3	ADAM18, ADAM2 +927 more	Copy number gain	See cases	GPathogenic
Select item 59764	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3	LOC130000305, LOC130000306 +927 more	Copy number gain	See cases	GPathogenic
Select item 59763	GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3	ADAM28, ADAM7 +703 more	Copy number gain	See cases	GPathogenic
Select item 34276	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	LOC130000069, LOC130000070 +868 more	Copy number gain	See cases	GPathogenic
Select item 155441	GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3	ADAM18, ADAM2 +816 more	Copy number gain	See cases	GPathogenic
Select item 151014	GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3	LOC130000275, LOC130000276 +927 more	Copy number gain	See cases	GPathogenic
Select item 148997	GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3	ADAM28, ADAM7 +651 more	Copy number gain	See cases	GPathogenic
Select item 2579268	GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1	ADAM28, ADAM7 +567 more	Copy number loss	Microcephaly	GPathogenic
Select item 147664	GRCh38/hg38 8p23.1-12(chr8:12725750-30180521)x3	ADAM28, ADAM7 +567 more	Copy number gain	See cases	GPathogenic
Select item 161019	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	LOC101929258, LOC101929470 +920 more	Copy number gain	See cases	GPathogenic
Select item 147303	GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3	LOC113788273, LOC113788274 +805 more	Copy number gain	See cases	GPathogenic
Select item 57410	GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3	LOC129999948, LOC129999949 +855 more	Copy number gain	See cases	GPathogenic
Select item 32941	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	ADAM18, ADAM2 +920 more	Copy number gain	See cases	GPathogenic
Select item 150985	GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3	LOC130000249, LOC130000250 +789 more	Copy number gain	See cases	GPathogenic
Select item 59767	GRCh38/hg38 8p23.1-12(chr8:12750796-29445409)x3	ADAM28, ADAM7 +523 more	Copy number gain	See cases	GPathogenic
Select item 59766	GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	TNFRSF10A, TNFRSF10A-DT +920 more	Copy number gain	See cases	GPathogenic
Select item 59769	GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	ADAM18, ADAM2 +898 more	Copy number gain	See cases	GPathogenic
Select item 154680	GRCh38/hg38 8p22-12(chr8:18972996-33619264)x1	ADAM28, ADAM7 +532 more	Copy number loss	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC130000156, LOC130000157 +3106 more	Copy number gain	See cases	GPathogenic
Select item 59770	GRCh38/hg38 8p21.3(chr8:21654619-23001935)x3	BIN3, BIN3-IT1 +119 more	Copy number gain	See cases	GPathogenic
Select item 1265704	NM_001128431.4(SLC39A14):c.-15-235_-15-234insTTTT	SLC39A14	Insertion (intron variant)	not provided	GBenign
Select item 1235882	NM_001128431.4(SLC39A14):c.-15-237_-15-235dup	SLC39A14	Duplication (intron variant)	not provided	GBenign
Select item 1282183	NM_001128431.4(SLC39A14):c.-15-234G>T	SLC39A14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232290	NM_001128431.4(SLC39A14):c.-15-221del	SLC39A14	Deletion (intron variant)	not provided	GBenign
Select item 1249284	NM_001128431.4(SLC39A14):c.-15-155A>G	SLC39A14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246155	NM_001128431.4(SLC39A14):c.-15-111A>G	SLC39A14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222011	NM_001128431.4(SLC39A14):c.-15-70C>T	SLC39A14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239892	NM_001128431.4(SLC39A14):c.-15-67G>A	SLC39A14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1177990	NM_001128431.4(SLC39A14):c.-15-26G>C	SLC39A14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2820995	NM_001128431.4(SLC39A14):c.8TGC[6] (p.Leu6_His7insLeuLeu)	SLC39A14	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 768230	NM_001128431.4(SLC39A14):c.8TGC[2] (p.Leu5_Leu6del)	SLC39A14	Microsatellite (inframe_deletion)	not provided	GBenign
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 714377	NM_001128431.4(SLC39A14):c.23C>G (p.Pro8Arg)	SLC39A14 (P18R +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 740837	NM_001128431.4(SLC39A14):c.24G>T (p.Pro8=)	SLC39A14	Single nucleotide variant (synonymous variant)	SLC39A14-related condition +1 more	GConflicting classifications of pathogenicity
Select item 708790	NM_001128431.4(SLC39A14):c.24G>A (p.Pro8=)	SLC39A14	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 2871301	NM_001128431.4(SLC39A14):c.51C>T (p.Thr17=)	SLC39A14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1932830	NM_001128431.4(SLC39A14):c.52C>T (p.Leu18=)	SLC39A14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1509926	NM_001128431.4(SLC39A14):c.58G>T (p.Gly20Cys)	SLC39A14 (G30C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1470060	NM_001128431.4(SLC39A14):c.58G>A (p.Gly20Ser)	SLC39A14 (G20S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1961187	NM_001128431.4(SLC39A14):c.64T>C (p.Trp22Arg)	SLC39A14 (W22R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2988513	NM_001128431.4(SLC39A14):c.75C>T (p.Thr25=)	SLC39A14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1372158	NM_001128431.4(SLC39A14):c.77C>T (p.Pro26Leu)	SLC39A14 (P26L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 1914336	NM_001128431.4(SLC39A14):c.98_99inv (p.Leu33Pro)	SLC39A14 (L33P +1 more)	Inversion (missense variant)	not provided	GLikely benign
Select item 1286124	NM_001128431.4(SLC39A14):c.98T>C (p.Leu33Pro)	SLC39A14 (L33P +1 more)	Single nucleotide variant (missense variant)	Hypermanganesemia with dystonia 2 +2 more	GBenign
Select item 2764757	NM_001128431.4(SLC39A14):c.102T>A (p.Gly34=)	SLC39A14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1936265	NM_001128431.4(SLC39A14):c.117C>T (p.Ser39=)	SLC39A14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2113029	NM_001128431.4(SLC39A14):c.120T>C (p.Ala40=)	SLC39A14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 1290406	NM_001128431.4(SLC39A14):c.156C>T (p.Gly52=)	SLC39A14	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1604910	NM_001128431.4(SLC39A14):c.171C>T (p.Leu57=)	SLC39A14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1241953	NM_001128431.4(SLC39A14):c.195A>G (p.Leu65=)	SLC39A14	Single nucleotide variant (synonymous variant)	Hyperostosis cranialis interna +2 more	GBenign
Select item 2806447	NM_001128431.4(SLC39A14):c.198C>G (p.Leu66=)	SLC39A14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1436519	NM_001128431.4(SLC39A14):c.220G>C (p.Gly74Arg)	SLC39A14 (G74R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1939114	NM_001128431.4(SLC39A14):c.232G>A (p.Val78Ile)	SLC39A14 (V78I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1944888	NM_001128431.4(SLC39A14):c.239A>G (p.Gln80Arg)	SLC39A14 (Q80R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2182442	NM_001128431.4(SLC39A14):c.243C>T (p.His81=)	SLC39A14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1489254	NM_001128431.4(SLC39A14):c.244G>A (p.Val82Met)	SLC39A14 (V82M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1958579	NM_001128431.4(SLC39A14):c.256A>G (p.Arg86Gly)	SLC39A14 (R96G +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 1954466	NM_001128431.4(SLC39A14):c.270+19C>T	SLC39A14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1274748	NM_001128431.4(SLC39A14):c.270+137G>A	SLC39A14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251901	NM_001128431.4(SLC39A14):c.270+161A>T	SLC39A14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1920252	NM_001128431.4(SLC39A14):c.271-20C>A	SLC39A14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 782507	NM_001128431.4(SLC39A14):c.271-5T>C	SLC39A14	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1013022	NM_001128431.4(SLC39A14):c.275T>A (p.Phe92Tyr)	SLC39A14 (F102Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 242924	NM_001128431.4(SLC39A14):c.292T>G (p.Phe98Val)	SLC39A14 (F98V +1 more)	Single nucleotide variant (missense variant)	Hypermanganesemia with dystonia 2	GPathogenic
Select item 242925	NM_001128431.4(SLC39A14):c.313G>T (p.Glu105Ter)	SLC39A14 (E105* +1 more)	Single nucleotide variant (nonsense)	Hypermanganesemia with dystonia 2	GPathogenic
Select item 2047028	NM_001128431.4(SLC39A14):c.321G>A (p.Ser107=)	SLC39A14	Single nucleotide variant (synonymous variant)	SLC39A14-related condition +1 more	GLikely benign
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 3006067	NM_001128431.4(SLC39A14):c.342C>G (p.Leu114=)	SLC39A14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1579772	NM_001128431.4(SLC39A14):c.357C>T (p.Pro119=)	SLC39A14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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