ClinVar for Gene (Select 3052) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 249

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3257540	NM_005333.5(HCCS):c.330G>A (p.Pro110=)	HCCS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3064959	NM_005333.5(HCCS):c.2T>C (p.Met1Thr)	HCCS (M1T)	Single nucleotide variant (missense variant +1 more)	Linear skin defects with multiple congenital anomalies 1	GLikely pathogenic
Select item 3062571	GRCh37/hg19 Xp22.2(chrX:11091133-11291609)	ARHGAP6, HCCS	Copy number gain	not specified	GUncertain significance
Select item 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 more	Copy number loss	not specified	GPathogenic
Select item 3062471	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	ACE2, ACOT9 +305 more	Copy number loss	not specified	GPathogenic
Select item 3054798	NM_005333.5(HCCS):c.195G>A (p.Glu65=)	HCCS	Single nucleotide variant (synonymous variant)	HCCS-related disorder	GLikely benign
Select item 3030034	NM_005333.5(HCCS):c.461A>C (p.His154Pro)	HCCS (H154P)	Single nucleotide variant (missense variant)	HCCS-related disorder	GUncertain significance
Select item 3006155	NM_005333.5(HCCS):c.177C>T (p.Arg59=)	HCCS	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2997418	NM_005333.5(HCCS):c.705C>T (p.Asn235=)	HCCS	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2918497	NM_005333.5(HCCS):c.182A>G (p.Tyr61Cys)	HCCS (Y61C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2889194	NM_005333.5(HCCS):c.608+24_608+26del	HCCS	Microsatellite (intron variant)	not provided	GBenign
Select item 2888823	NM_005333.5(HCCS):c.65C>T (p.Pro22Leu)	HCCS (P22L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2809609	NM_005333.5(HCCS):c.540A>T (p.Pro180=)	HCCS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2804780	NM_005333.5(HCCS):c.4G>A (p.Gly2Ser)	HCCS (G2S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2726852	NM_005333.5(HCCS):c.402-11T>C	HCCS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2725828	NM_005333.5(HCCS):c.175C>A (p.Arg59Ser)	HCCS (R59S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2724725	NM_005333.5(HCCS):c.606G>C (p.Met202Ile)	HCCS (M202I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2723366	NM_005333.5(HCCS):c.633C>T (p.His211=)	HCCS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2716091	NM_005333.5(HCCS):c.489G>A (p.Lys163=)	HCCS	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2714700	NM_005333.5(HCCS):c.474C>T (p.Asn158=)	HCCS	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2689196	NM_005333.5(HCCS):c.520G>T (p.Ala174Ser)	HCCS (A174S)	Single nucleotide variant (missense variant)	Linear skin defects with multiple congenital anomalies 1	GUncertain significance
Select item 2685727	GRCh37/hg19 Xp22.33-21.2(chrX:168547-30774453)x2	ACE2, ACOT9 +120 more	Copy number gain	not provided	GPathogenic
Select item 2685690	GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1	HDAC6, RGN +275 more	Copy number loss	not provided	GPathogenic
Select item 2659982	NM_005333.5(HCCS):c.704A>G (p.Asn235Ser)	HCCS (N235S)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2659981	NC_000023.11:g.11120047T>C	ARHGAP6, HCCS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2659980	NM_005333.5(HCCS):c.101-11G>C	HCCS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2630185	NM_005333.5(HCCS):c.439A>G (p.Met147Val)	HCCS (M147V)	Single nucleotide variant (missense variant)	HCCS-related disorder	GUncertain significance
Select item 2581140	NM_005333.5(HCCS):c.334G>A (p.Ala112Thr)	HCCS (A112T)	Single nucleotide variant (missense variant)	Linear skin defects with multiple congenital anomalies 1	Gnot provided
Select item 2573195	NM_005333.5(HCCS):c.608+5G>C	HCCS	Single nucleotide variant (intron variant)	Linear skin defects with multiple congenital anomalies 1	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2478045	NM_005333.5(HCCS):c.178G>A (p.Ala60Thr)	HCCS (A60T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2424250	NC_000023.10:g.(?_8501036)_(11318732_?)del	ARHGAP6, CLCN4 +10 more	Deletion	not provided	GPathogenic
Select item 2391787	NM_005333.5(HCCS):c.46A>G (p.Asn16Asp)	HCCS (N16D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2314866	NM_005333.5(HCCS):c.569A>G (p.Lys190Arg)	HCCS (K190R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231667	NM_005333.5(HCCS):c.168C>A (p.His56Gln)	HCCS (H56Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2153671	NM_005333.5(HCCS):c.654C>T (p.Cys218=)	HCCS	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2058476	NM_005333.5(HCCS):c.763G>A (p.Val255Ile)	HCCS (V255I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2045948	NM_005333.5(HCCS):c.21T>C (p.Ala7=)	HCCS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2020075	NM_005333.5(HCCS):c.18T>C (p.Ser6=)	HCCS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1808678	GRCh37/hg19 Xp22.33-22.2(chrX:2703633-14515021)x2	AMELX, ANOS1 +42 more	Copy number gain	not provided	GPathogenic
Select item 1808437	GRCh37/hg19 Xp22.2(chrX:11035791-11457856)x2	AMELX, ARHGAP6 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1808256	GRCh37/hg19 Xp22.2(chrX:10523045-12103994)x3	AMELX, ARHGAP6 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1807620	GRCh37/hg19 Xp22.2(chrX:10843953-11679385)x3	AMELX, ARHGAP6 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1740941	NM_005333.5(HCCS):c.448A>G (p.Ile150Val)	HCCS (I150V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1710275	NM_005333.5(HCCS):c.253-3T>G	HCCS	Single nucleotide variant (intron variant)	Linear skin defects with multiple congenital anomalies 1	GUncertain significance
Select item 1704345	GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 1703583	GRCh37/hg19 Xp22.33-11.21(chrX:168546-57841304)	ACE2, ACOT9 +315 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703582	Single allele	ADGRG2, ACE2 +309 more	Complex	Turner syndrome	GPathogenic
Select item 1703581	GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)	ACE2, ACOT9 +267 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703580	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	ABCB7, ABCD1 +819 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	AKAP14, CT47A11 +819 more	Copy number gain	Hypotonia +2 more	GPathogenic
Select item 1588866	NM_005333.5(HCCS):c.609-19T>C	HCCS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1526757	GRCh37/hg19 Xp22.2(chrX:10821866-11220294)	ARHGAP6, HCCS +1 more	Copy number gain	not specified	GUncertain significance
Select item 1497198	NM_005333.5(HCCS):c.638G>C (p.Trp213Ser)	HCCS (W213S)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1341233	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	RADX, RAI2 +818 more	Copy number loss	not provided	GPathogenic
Select item 1341223	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	GPM6B, KLHL15 +818 more	Copy number gain	not provided	GPathogenic
Select item 1341132	GRCh37/hg19 Xp22.2(chrX:11091133-11291610)x3	ARHGAP6, HCCS	Copy number gain	not provided	GUncertain significance
Select item 1340356	GRCh37/hg19 Xp22.2(chrX:11137373-11748584)x2	AMELX, ARHGAP6 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1338168	NM_005333.5(HCCS):c.252+5T>G	HCCS	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1320309	NM_005333.5(HCCS):c.736C>T (p.Arg246Cys)	HCCS (R246C)	Single nucleotide variant (missense variant)	Linear skin defects with multiple congenital anomalies 1	GUncertain significance
Select item 1299171	NM_005333.5(HCCS):c.236T>C (p.Leu79Pro)	HCCS (L79P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1234098	NM_005333.5(HCCS):c.402-331A>G	HCCS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222443	NM_005333.5(HCCS):c.253-299G>A	HCCS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198842	NM_005333.5(HCCS):c.*265T>C	HCCS	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1185924	NM_005333.5(HCCS):c.101-308C>T	HCCS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1183148	NM_005333.5(HCCS):c.*287G>A	HCCS	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	KLHL34, KLHL4 +818 more	Copy number loss	not provided	GPathogenic
Select item 1148451	NC_000023.10:g.(?_8501036)_(11318732_?)dup	ARHGAP6, AMELX +10 more	Duplication	not provided	GLikely benign
Select item 1037994	NM_005333.5(HCCS):c.283G>C (p.Asp95His)	HCCS (D95H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 992647	GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1	ACE2, ACOT9 +309 more	Copy number loss	not provided	GPathogenic
Select item 987889	NM_005333.5(HCCS):c.308_309insAGT (p.Val103dup)	HCCS	Insertion (inframe_insertion)	Linear skin defects with multiple congenital anomalies 1	GLikely pathogenic
Select item 984432	GRCh37/hg19 Xp22.2(chrX:10578932-11326337)x2	HCCS, AMELX +2 more	Copy number gain	See cases	GUncertain significance
Select item 983193	GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1	ACE2, ACOT9 +304 more	Copy number loss	See cases	GPathogenic
Select item 980831	GRCh37/hg19 Xp22.2(chrX:10960556-11144778)x2	HCCS	Copy number gain	not provided	GUncertain significance
Select item 980285	GRCh37/hg19 Xp22.2(chrX:10478359-15357092)x3	MSL3, GEMIN8 +23 more	Copy number gain	not provided	GLikely pathogenic
Select item 816622	GRCh37/hg19 Xp22.33-21.1(chrX:168546-34753512)x1	FANCB, ARSD-AS1 +125 more	Copy number loss	not provided	GPathogenic
Select item 816281	GRCh37/hg19 Xp22.33-22.12(chrX:1240318-20986848)x2	FAM9B, AMELX +82 more	Copy number gain	not provided	GPathogenic
Select item 816270	GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1	ACE2, ACOT9 +305 more	Copy number loss	not provided	GPathogenic
Select item 816269	GRCh37/hg19 Xp22.33-22.11(chrX:537158-22883547)x1	TCEANC, CLTRN +90 more	Copy number loss	not provided	GPathogenic
Select item 816245	GRCh37/hg19 Xp22.33-22.13(chrX:168546-17502124)x1	GRPR, STS +66 more	Copy number loss	not provided	GPathogenic
Select item 767588	NM_005333.5(HCCS):c.549C>A (p.Ile183=)	HCCS	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 767182	NM_005333.5(HCCS):c.175C>T (p.Arg59Cys)	HCCS (R59C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 767117	NM_005333.5(HCCS):c.697G>A (p.Glu233Lys)	HCCS (E233K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 747017	NM_005333.5(HCCS):c.540A>G (p.Pro180=)	HCCS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 725306	NM_005333.5(HCCS):c.387A>C (p.Ala129=)	HCCS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 719798	NM_005333.5(HCCS):c.189C>T (p.Tyr63=)	HCCS	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 688883	GRCh37/hg19 Xp22.33-22.11(chrX:2190434-23795839)x3	ACE2, ACOT9 +94 more	Copy number gain	not provided	GPathogenic
Select item 688137	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	ARHGAP36, ARHGAP4 +818 more	Copy number loss	not provided	GPathogenic
Select item 686941	GRCh37/hg19 Xp22.33-22.2(chrX:2703632-14129100)x2	AMELX, ANOS1 +42 more	Copy number gain	not provided	GPathogenic
Select item 686495	GRCh37/hg19 Xp22.2(chrX:11091134-11291611)x2	ARHGAP6, HCCS	Copy number gain	not provided	GUncertain significance
Select item 685565	GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1	RBBP7, RBM10 +316 more	Copy number loss	not provided	GPathogenic
Select item 685331	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4	BEX1, BEX2 +818 more	Copy number gain	not provided	GPathogenic
Select item 684963	GRCh37/hg19 Xp22.33-11.4(chrX:168546-38054739)x1	ACE2, ACOT9 +139 more	Copy number loss	not provided	GPathogenic
Select item 638115	GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1	ACE2, ACOT9 +257 more	Copy number loss	See cases	GPathogenic
Select item 635934	Single allele	SUPT20HL2, SYAP1 +177 more	Deletion	Neurodevelopmental disorder	GPathogenic
Select item 625794	GRCh37/hg19 Xp22.33-22.11(chrX:801301-23768392)	ACE2, ACOT9 +94 more	Copy number gain	not provided	GPathogenic
Select item 564783	GRCh37/hg19 Xp22.2(chrX:11091133-11291610)x2	ARHGAP6, HCCS	Copy number gain	not provided	GUncertain significance
Select item 564772	GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2	RPS6KA6, UPRT +413 more	Copy number gain	not provided	GPathogenic
Select item 564698	GRCh37/hg19 Xp22.33-22.12(chrX:201704-20682168)x3	ANOS1, FANCB +82 more	Copy number gain	not provided	GPathogenic

<< First< Prev

Page of 3