ClinVar for Gene (Select 416) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370369	GRCh38/hg38 Xp22.33-22.2(chrX:11091-10219826)x1	AKAP17A, ANOS1 +145 more	Copy number loss	Intellectual disability	GPathogenic
Select item 3345331	NM_001201539.2(ARSF):c.338G>C (p.Gly113Ala)	ARSF (G113A)	Single nucleotide variant (missense variant)	ARSF-related disorder	GUncertain significance
Select item 3344049	NM_001201539.2(ARSF):c.12-10T>G	ARSF	Single nucleotide variant (intron variant)	ARSF-related disorder	GUncertain significance
Select item 3316516	NM_001201539.2(ARSF):c.1508C>G (p.Pro503Arg)	ARSF (P503R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316498	NM_001201539.2(ARSF):c.358A>G (p.Thr120Ala)	ARSF (T120A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316496	NM_001201539.2(ARSF):c.331C>A (p.Pro111Thr)	ARSF (P111T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3148934	GRCh37/hg19 Xp22.33-22.32(chrX:1919821-4613977)x0	ARSD, ARSD-AS1 +7 more	Copy number loss	See cases	GUncertain significance
Select item 3148849	GRCh37/hg19 Xp22.33-22.32(chrX:168552-5388161)x1	ARSD, ARSD-AS1 +7 more	Copy number loss	not provided	GPathogenic
Select item 3129894	NM_001201539.2(ARSF):c.968G>A (p.Gly323Asp)	ARSF (G323D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129893	NM_001201539.2(ARSF):c.746G>T (p.Arg249Leu)	ARSF (R249L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129892	NM_001201539.2(ARSF):c.675T>G (p.Phe225Leu)	ARSF (F225L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129891	NM_001201539.2(ARSF):c.397G>A (p.Gly133Arg)	ARSF (G133R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129890	NM_001201539.2(ARSF):c.175G>C (p.Asp59His)	ARSF (D59H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129888	NM_001201539.2(ARSF):c.1421C>T (p.Thr474Ile)	ARSF (T474I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129887	NM_001201539.2(ARSF):c.1271T>C (p.Ile424Thr)	ARSF (I424T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062543	GRCh37/hg19 Xp22.33-22.32(chrX:1734397-4958582)	ARSD, ARSD-AS1 +7 more	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 3062488	GRCh37/hg19 Xp22.33-22.31(chrX:168546-7545375)	ARSD, ARSD-AS1 +11 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 3043061	NM_001201539.2(ARSF):c.1004G>A (p.Arg335Lys)	ARSF (R335K)	Single nucleotide variant (missense variant)	ARSF-related disorder	GBenign
Select item 3042994	NM_001201539.2(ARSF):c.165G>A (p.Thr55=)	ARSF	Single nucleotide variant (synonymous variant)	ARSF-related disorder	GLikely benign
Select item 3041861	NM_001201539.2(ARSF):c.1443T>A (p.Ala481=)	ARSF	Single nucleotide variant (synonymous variant)	ARSF-related disorder	GLikely benign
Select item 3041701	NM_001201539.2(ARSF):c.535C>T (p.Arg179Cys)	ARSF (R179C)	Single nucleotide variant (missense variant)	ARSF-related disorder	GLikely benign
Select item 3041570	NM_001201539.2(ARSF):c.689G>A (p.Gly230Asp)	ARSF (G230D)	Single nucleotide variant (missense variant)	ARSF-related disorder	GBenign
Select item 3040847	NM_001201539.2(ARSF):c.716C>A (p.Ser239Tyr)	ARSF (S239Y)	Single nucleotide variant (missense variant)	ARSF-related disorder	GLikely benign
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 2684963	GRCh37/hg19 Xp22.33(chrX:2627829-3074261)x3	ARSD, ARSD-AS1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 2684961	GRCh37/hg19 Xp22.33(chrX:2468908-3011375)x3	ARSD, ARSD-AS1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 2684959	GRCh37/hg19 Xp22.33(chrX:1818053-3699423)x3	ARSD, ARSD-AS1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 2684958	GRCh37/hg19 Xp22.33-22.32(chrX:1734398-4958582)x3	ARSD, ARSD-AS1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 2659874	NM_001201539.2(ARSF):c.1689G>A (p.Lys563=)	ARSF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659873	NM_001201539.2(ARSF):c.1308C>T (p.Asn436=)	ARSF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659872	NM_001201539.2(ARSF):c.1041A>G (p.Gly347=)	ARSF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659871	NM_001201539.2(ARSF):c.852T>C (p.Leu284=)	ARSF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659870	NM_001201539.2(ARSF):c.761C>T (p.Thr254Met)	ARSF (T254M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2659869	NM_001201539.2(ARSF):c.600C>T (p.Ile200=)	ARSF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659868	NM_001201539.2(ARSF):c.363del (p.Ala122fs)	ARSF (A122fs)	Deletion (frameshift variant)	not provided	GLikely benign
Select item 2659867	NM_001201539.2(ARSF):c.161+7C>T	ARSF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2600734	NM_001201539.2(ARSF):c.1506C>A (p.Asn502Lys)	ARSF (N502K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598955	NM_001201539.2(ARSF):c.81C>G (p.Asp27Glu)	ARSF (D27E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591287	NM_001201539.2(ARSF):c.584T>C (p.Leu195Pro)	ARSF (L195P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523986	NM_001201539.2(ARSF):c.1280G>A (p.Arg427Gln)	ARSF (R427Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515623	NM_001201539.2(ARSF):c.784C>G (p.Arg262Gly)	ARSF (R262G)	Single nucleotide variant (missense variant)	not specified	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 2499158	GRCh37/hg19 Xp22.33-22.31(chrX:200855-6069814)x1	ARSD, ARSD-AS1 +8 more	Copy number loss	not provided	GPathogenic
Select item 2496290	NM_001201539.2(ARSF):c.1507C>T (p.Pro503Ser)	ARSF (P503S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484621	NM_001201539.2(ARSF):c.191A>G (p.Glu64Gly)	ARSF (E64G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456693	NM_001201539.2(ARSF):c.1139G>A (p.Arg380His)	ARSF (R380H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406593	NM_001201539.2(ARSF):c.745C>T (p.Arg249Trp)	ARSF (R249W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387447	NM_001201539.2(ARSF):c.236G>T (p.Ser79Ile)	ARSF (S79I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382946	NM_001201539.2(ARSF):c.1757C>T (p.Pro586Leu)	ARSF (P586L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381715	NM_001201539.2(ARSF):c.1625A>G (p.Gln542Arg)	ARSF (Q542R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2381661	NM_001201539.2(ARSF):c.1277G>A (p.Gly426Asp)	ARSF (G426D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361762	NM_001201539.2(ARSF):c.1276G>A (p.Gly426Ser)	ARSF (G426S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344052	NM_001201539.2(ARSF):c.827A>G (p.Glu276Gly)	ARSF (E276G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337236	NM_001201539.2(ARSF):c.1115T>C (p.Met372Thr)	ARSF (M372T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330933	NM_001201539.2(ARSF):c.849C>G (p.Phe283Leu)	ARSF (F283L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318542	NM_001201539.2(ARSF):c.334G>T (p.Ala112Ser)	ARSF (A112S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282541	NM_001201539.2(ARSF):c.1075C>G (p.Leu359Val)	ARSF (L359V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278384	NM_001201539.2(ARSF):c.1504A>C (p.Asn502His)	ARSF (N502H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269224	NM_001201539.2(ARSF):c.1163C>G (p.Pro388Arg)	ARSF (P388R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266779	NM_001201539.2(ARSF):c.1702G>T (p.Val568Leu)	ARSF (V568L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243485	NM_001201539.2(ARSF):c.1202C>T (p.Thr401Ile)	ARSF (T401I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234769	NM_001201539.2(ARSF):c.608T>C (p.Leu203Pro)	ARSF (L203P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222415	NM_001201539.2(ARSF):c.145G>A (p.Gly49Ser)	ARSF (G49S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1808630	GRCh37/hg19 Xp22.33-22.2(chrX:1932788-9676331)x1	ANOS1, ARSD +19 more	Copy number loss	not provided	GLikely pathogenic
Select item 1807900	GRCh37/hg19 Xp22.33-22.31(chrX:1626596-7832236)x3	ARSD, ARSD-AS1 +12 more	Copy number gain	not provided	GUncertain significance
Select item 1807716	GRCh37/hg19 Xp22.33(chrX:2703823-3354304)x1	ARSD, ARSD-AS1 +6 more	Copy number loss	not provided	GPathogenic
Select item 1807636	GRCh37/hg19 Xp22.33(chrX:2370150-3027737)x3	ARSD, ARSD-AS1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1708269	GRCh37/hg19 Xp22.33(chrX:2696691-3666623)x1	ARSD, ARSD-AS1 +7 more	Copy number loss	Klinefelter syndrome	GPathogenic
Select item 1707443	GRCh37/hg19 Xp22.33-22.2(chrX:168546-11080743)x1	ANOS1, ARSD +24 more	Copy number loss	See cases	GPathogenic
Select item 1706494	GRCh37/hg19 Xp22.33-22.2(chrX:168546-10368820)x1	GYG2, ANOS1 +23 more	Copy number loss	See cases	GPathogenic
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 1526750	GRCh37/hg19 Xp22.33(chrX:2763106-3583305)	ARSD, ARSD-AS1 +6 more	Copy number gain	not specified	GUncertain significance
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 1340700	GRCh37/hg19 Xp22.33-22.32(chrX:1-4567282)x1	ARSD, ARSD-AS1 +7 more	Copy number loss	not provided	GPathogenic
Select item 1340276	GRCh37/hg19 Xp22.33(chrX:2428085-3127231)x3	ARSD, ARSD-AS1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1340111	GRCh37/hg19 Xp22.33(chrX:2952063-3156774)x3	ARSF	Copy number gain	not provided	GLikely benign
Select item 1340025	GRCh37/hg19 Xp22.33(chrX:2571752-3195839)x2	ARSD, ARSD-AS1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1339979	GRCh37/hg19 Xp22.33-22.31(chrX:168546-6449837)x0	ARSD, ARSD-AS1 +8 more	Copy number loss	not provided	GPathogenic
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	KLHL34, KLHL4 +818 more	Copy number loss	not provided	GPathogenic
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 988943	GRCh37/hg19 Xp22.33-22.32(chrX:60000-4857212)x1	XG, ARSD +7 more	Copy number loss	not provided	GPathogenic
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 979653	GRCh37/hg19 Xp22.33(chrX:2571744-3605934)x2	ARSL, GYG2 +7 more	Copy number gain	not provided	GUncertain significance
Select item 979651	GRCh37/hg19 Xp22.33(chrX:2428084-3118627)x2	ARSD-AS1, XG +5 more	Copy number gain	not provided	GUncertain significance
Select item 979648	GRCh37/hg19 Xp22.33(chrX:2422650-2965166)x3	XG, ARSD +5 more	Copy number gain	not provided	GUncertain significance
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 816485	GRCh37/hg19 Xp22.33-22.31(chrX:60814-6043278)x0	ARSH, ARSD +8 more	Copy number loss	See cases	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 816278	GRCh37/hg19 Xp22.33(chrX:827260-3057917)x3	ARSD, GYG2 +5 more	Copy number gain	not provided	GUncertain significance

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