257[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic
Select item 147477	GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1	HERC4, HK1 +514 more	Copy number loss	See cases	GPathogenic
Select item 146115	GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3	LOC130004125, LOC130004126 +580 more	Copy number gain	See cases	GPathogenic
Select item 58745	GRCh38/hg38 10q22.1-22.2(chr10:72720628-75612374)x1	LOC130004132, LOC130004133 +150 more	Copy number loss	See cases	GPathogenic
Select item 1250464	NC_000010.11:g.74151197G>C	ADK	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 2218047	NM_006721.4(ADK):c.21G>C (p.Glu7Asp)	ADK (E7D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3089444	NM_006721.4(ADK):c.34A>G (p.Lys12Glu)	ADK (K12E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1250012	NM_006721.4(ADK):c.65+175C>A	ADK, LOC130004112	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 879389	NM_006721.4(ADK):c.66-24289G>A	ADK	Single nucleotide variant (intron variant)	Adenosine kinase deficiency	GLikely benign
Select item 300830	NM_006721.4(ADK):c.66-24151A>T	ADK	Single nucleotide variant (intron variant)	Adenosine kinase deficiency	GUncertain significance
Select item 879390	NM_006721.4(ADK):c.66-24133G>A	ADK	Single nucleotide variant (intron variant)	Adenosine kinase deficiency	GUncertain significance
Select item 300831	NM_006721.4(ADK):c.66-24106T>C	ADK	Single nucleotide variant (intron variant)	Adenosine kinase deficiency	GLikely benign
Select item 300832	NM_006721.4(ADK):c.66-24083G>C	ADK	Single nucleotide variant (intron variant)	Adenosine kinase deficiency	GUncertain significance
Select item 300833	NM_006721.4(ADK):c.66-24009G>T	ADK	Single nucleotide variant (intron variant)	Adenosine kinase deficiency	GUncertain significance
Select item 879774	NM_006721.4(ADK):c.66-23967G>T	ADK	Single nucleotide variant (5 prime UTR variant +1 more)	Adenosine kinase deficiency	GUncertain significance
Select item 300834	NM_006721.4(ADK):c.66-23966T>C	ADK	Single nucleotide variant (5 prime UTR variant +1 more)	Adenosine kinase deficiency	GUncertain significance
Select item 300835	NM_006721.4(ADK):c.66-23911C>T	ADK	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 879775	NM_006721.4(ADK):c.66-23885T>A	ADK (S3T)	Single nucleotide variant (missense variant +1 more)	Adenosine kinase deficiency +1 more	GUncertain significance
Select item 2824765	NM_006721.4(ADK):c.66-23860G>A	ADK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1607343	NM_006721.4(ADK):c.66-23858C>T	ADK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 149242	GRCh38/hg38 10q22.2(chr10:74195087-74468002)x1	ADK, LOC110120903 +2 more	Copy number loss	See cases	GUncertain significance
Select item 1249834	NM_006721.4(ADK):c.66-76A>T	ADK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2704041	NM_006721.4(ADK):c.66-3del	ADK	Deletion (intron variant)	not provided	GBenign
Select item 915419	NM_006721.4(ADK):c.71A>T (p.Asn24Ile)	ADK (N7I +1 more)	Single nucleotide variant (missense variant)	Adenosine kinase deficiency	GUncertain significance
Select item 2178939	NM_006721.4(ADK):c.78C>G (p.Leu26=)	ADK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2238830	NM_006721.4(ADK):c.85A>G (p.Met29Val)	ADK (M29V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 29605	NM_006721.4(ADK):c.89G>A (p.Gly30Glu)	ADK (G13E +1 more)	Single nucleotide variant (missense variant)	Adenosine kinase deficiency	GPathogenic
Select item 2019321	NM_006721.4(ADK):c.93T>C (p.Asn31=)	ADK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1602700	NM_006721.4(ADK):c.140+20T>C	ADK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1906924	NM_006721.4(ADK):c.141-16C>T	ADK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2068730	NM_006721.4(ADK):c.141-6A>T	ADK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 738577	NM_006721.4(ADK):c.141-5T>C	ADK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1408446	NM_006721.4(ADK):c.155C>T (p.Pro52Leu)	ADK (P52L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1918580	NM_006721.4(ADK):c.157A>G (p.Asn53Asp)	ADK (N36D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2770787	NM_006721.4(ADK):c.182A>G (p.Lys61Arg)	ADK (K61R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 445533	NM_006721.4(ADK):c.195-18A>G	ADK	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1669469	NM_006721.4(ADK):c.195-17C>T	ADK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1611785	NM_006721.4(ADK):c.195-16T>C	ADK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2113805	NM_006721.4(ADK):c.195G>T (p.Leu65=)	ADK (K30N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1983495	NM_006721.4(ADK):c.195G>A (p.Leu65=)	ADK	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 300836	NM_006721.4(ADK):c.220A>G (p.Lys74Glu)	ADK (K57E +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1898064	NM_006721.4(ADK):c.222A>G (p.Lys74=)	ADK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2124793	NM_006721.4(ADK):c.247A>C (p.Thr83Pro)	ADK (T48P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 300837	NM_006721.4(ADK):c.259A>G (p.Ile87Val)	ADK (I70V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1613825	NM_006721.4(ADK):c.273+10T>A	ADK	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 735726	NM_006721.4(ADK):c.274-9G>T	ADK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2613125	NM_006721.4(ADK):c.277A>T (p.Met93Leu)	ADK (M76L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2715847	NM_006721.4(ADK):c.315A>G (p.Gly105=)	ADK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2031084	NM_006721.4(ADK):c.328_331del (p.Asp110fs)	ADK (D75fs +2 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2444120	NM_006721.4(ADK):c.374T>C (p.Val125Ala)	ADK (V108A +2 more)	Single nucleotide variant (missense variant)	Adenosine kinase deficiency	GUncertain significance
Select item 1608943	NM_006721.4(ADK):c.375G>C (p.Val125=)	ADK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2084745	NM_006721.4(ADK):c.390C>T (p.Tyr130=)	ADK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011657	NM_006721.4(ADK):c.391G>A (p.Glu131Lys)	ADK (E114K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 806516	NM_006721.4(ADK):c.410_412dup (p.Thr137_Gly138insAla)	ADK	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 1929788	NM_006721.4(ADK):c.426A>G (p.Ala142=)	ADK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2134769	NM_006721.4(ADK):c.428G>A (p.Cys143Tyr)	ADK (C126Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 877826	NM_006721.4(ADK):c.429C>T (p.Cys143=)	ADK	Single nucleotide variant (synonymous variant)	Adenosine kinase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2271754	NM_006721.4(ADK):c.434C>G (p.Thr145Ser)	ADK (T110S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 300838	NM_006721.4(ADK):c.441C>T (p.Asp147=)	ADK	Single nucleotide variant (synonymous variant)	Adenosine kinase deficiency	GUncertain significance
Select item 1286611	NM_006721.4(ADK):c.447-52C>T	ADK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1610276	NM_006721.4(ADK):c.447-7G>T	ADK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2399591	NM_006721.4(ADK):c.479G>T (p.Cys160Phe)	ADK (C160F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 877827	NM_006721.4(ADK):c.494A>C (p.Lys165Thr)	ADK (K130T +2 more)	Single nucleotide variant (missense variant)	Adenosine kinase deficiency	GUncertain significance
Select item 1668391	NM_006721.4(ADK):c.501T>A (p.Leu167=)	ADK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2114034	NM_006721.4(ADK):c.550A>G (p.Ile184Val)	ADK (I149V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1265449	NM_006721.4(ADK):c.555+181T>C	ADK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1594232	NM_006721.4(ADK):c.556-6A>G	ADK, LOC102723439	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1528166	NM_006721.4(ADK):c.556-3del	ADK, LOC102723439	Deletion (intron variant)	not provided	GLikely benign
Select item 2003521	NM_006721.4(ADK):c.564del (p.Thr190fs)	ADK, LOC102723439 (T190fs +2 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1381381	NM_006721.4(ADK):c.620A>C (p.Asn207Thr)	ADK, LOC102723439 (N207T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2596051	NM_006721.4(ADK):c.631A>T (p.Thr211Ser)	ADK, LOC102723439 (T194S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2584480	NM_006721.4(ADK):c.642_645del (p.Ser215fs)	ADK, LOC102723439 (S180fs +2 more)	Microsatellite (frameshift variant +1 more)	Adenosine kinase deficiency	GLikely pathogenic
Select item 2897046	NM_006721.4(ADK):c.651G>A (p.Pro217=)	ADK, LOC102723439	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1923864	NM_006721.4(ADK):c.678A>G (p.Ser226=)	ADK, LOC102723439	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2113829	NM_006721.4(ADK):c.679T>C (p.Leu227=)	ADK, LOC102723439	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3089456	NM_006721.4(ADK):c.683T>C (p.Met228Thr)	ADK, LOC102723439 (M228T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 29604	NM_006721.4(ADK):c.704A>C (p.Asp235Ala)	ADK, LOC102723439 (D218A +2 more)	Single nucleotide variant (missense variant +1 more)	Adenosine kinase deficiency	GPathogenic
Select item 300839	NM_006721.4(ADK):c.705T>C (p.Asp235=)	ADK, LOC102723439	Single nucleotide variant (synonymous variant +1 more)	Adenosine kinase deficiency +1 more	GBenign
Select item 2550953	NM_006721.4(ADK):c.719A>G (p.Asn240Ser)	ADK, LOC102723439 (N240S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 300840	NM_006721.4(ADK):c.726+11T>G	ADK, LOC102723439	Single nucleotide variant (intron variant)	Adenosine kinase deficiency +1 more	GBenign/Likely benign
Select item 1275730	NM_006721.4(ADK):c.726+114G>A	ADK, LOC102723439	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1600554	NM_006721.4(ADK):c.727-8dup	ADK	Duplication (intron variant)	not provided	GBenign
Select item 802588	NM_006721.4(ADK):c.727-8del	ADK	Deletion (intron variant)	not provided +1 more	GBenign
Select item 2014048	NM_006721.4(ADK):c.727-18T>G	ADK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 300841	NM_006721.4(ADK):c.727-11T>C	ADK	Single nucleotide variant (intron variant)	Adenosine kinase deficiency +1 more	GBenign
Select item 191003	NM_006721.4(ADK):c.741T>A (p.Phe247Leu)	ADK (F247L +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2750730	NM_006721.4(ADK):c.762+13A>G	ADK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1933511	NM_006721.4(ADK):c.762+17T>C	ADK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1257921	NM_006721.4(ADK):c.763-115T>C	ADK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 300842	NM_006721.4(ADK):c.763-9T>C	ADK	Single nucleotide variant (intron variant)	Adenosine kinase deficiency	GUncertain significance
Select item 3013544	NM_006721.4(ADK):c.763-8A>G	ADK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1911335	NM_006721.4(ADK):c.772A>G (p.Ile258Val)	ADK (I223V +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1408394	NM_006721.4(ADK):c.792G>C (p.Lys264Asn)	ADK (K229N +4 more)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 1901499	NM_006721.4(ADK):c.801C>T (p.Ala267=)	ADK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 800875	NM_006721.4(ADK):c.813dup (p.Asn272fs)	ADK (N272fs +4 more)	Duplication (frameshift variant +1 more)	Adenosine kinase deficiency	GLikely pathogenic
Select item 2205762	NM_006721.4(ADK):c.865A>G (p.Ile289Val)	ADK (I254V +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2847920	NM_006721.4(ADK):c.877+11G>A	ADK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1189011	NM_006721.4(ADK):c.878-71T>C	ADK	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 3089463	NM_006721.4(ADK):c.901G>C (p.Val301Leu)	ADK (V244L +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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