ClinVar for Gene (Select 9185) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 212

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3313631	NM_004726.3(REPS2):c.1318G>A (p.Val440Met)	REPS2 (V439M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3313630	NM_004726.3(REPS2):c.1883G>A (p.Arg628Gln)	REPS2 (R628Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313629	NM_004726.3(REPS2):c.1289G>T (p.Ser430Ile)	REPS2 (S429I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245767	NC_000023.10:g.(?_14027032)_(19854400_?)del	ASB9, BEND2 +35 more	Deletion	not provided	GPathogenic
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3153007	NM_004726.3(REPS2):c.734G>A (p.Gly245Glu)	REPS2 (G244E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153006	NM_004726.3(REPS2):c.470A>G (p.His157Arg)	LOC129391295, REPS2 (H157R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153004	NM_004726.3(REPS2):c.1684C>T (p.Pro562Ser)	REPS2 (P561S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153003	NM_004726.3(REPS2):c.14C>T (p.Ala5Val)	REPS2 (A5V)	Single nucleotide variant (missense variant)	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 3024650	GRCh37/hg19 Xp22.2-22.13(chrX:16773068-17546881)x3	NHS, RBBP7 +3 more	Copy number gain	not provided	GUncertain significance
Select item 3024649	GRCh37/hg19 Xp22.2-22.13(chrX:16582625-18323335)x0	BEND2, CTPS2 +9 more	Copy number loss	not provided	GPathogenic
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 2660077	NC_000023.11:g.17187377A>G	REPS2	Single nucleotide variant (genic downstream transcript variant)	not provided	GLikely benign
Select item 2660076	NM_004726.3(REPS2):c.1233T>C (p.Ala411=)	REPS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660075	NM_004726.3(REPS2):c.705G>A (p.Gln235=)	REPS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660074	NM_004726.3(REPS2):c.160G>C (p.Gly54Arg)	REPS2 (G54R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2600321	NM_004726.3(REPS2):c.161G>C (p.Gly54Ala)	REPS2 (G54A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592433	NM_004726.3(REPS2):c.529G>A (p.Asp177Asn)	LOC129391295, REPS2 (D177N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2585446	NM_004726.3(REPS2):c.1822C>T (p.Gln608Ter)	REPS2 (Q607* +1 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 1	GUncertain significance
Select item 2559027	NM_004726.3(REPS2):c.1750A>G (p.Thr584Ala)	REPS2 (T583A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540794	NM_004726.3(REPS2):c.524G>C (p.Arg175Thr)	LOC129391295, REPS2 (R175T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537763	NM_004726.3(REPS2):c.269A>G (p.His90Arg)	REPS2 (H90R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520839	NM_004726.3(REPS2):c.41C>T (p.Ala14Val)	REPS2 (A14V)	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 2490345	NM_004726.3(REPS2):c.130C>G (p.Arg44Gly)	REPS2 (R44G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469889	NM_004726.3(REPS2):c.376C>T (p.Arg126Trp)	REPS2 (R126W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462548	NM_004726.3(REPS2):c.110G>A (p.Cys37Tyr)	REPS2 (C37Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455032	NM_004726.3(REPS2):c.599C>T (p.Pro200Leu)	REPS2 (P199L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412028	NM_004726.3(REPS2):c.1645A>G (p.Ser549Gly)	REPS2 (S548G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377999	NM_004726.3(REPS2):c.1165T>C (p.Ser389Pro)	REPS2 (S388P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359769	NM_004726.3(REPS2):c.1775C>T (p.Ala592Val)	REPS2 (A592V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2358546	NM_004726.3(REPS2):c.1172C>T (p.Pro391Leu)	REPS2 (P390L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348327	NM_004726.3(REPS2):c.709G>A (p.Glu237Lys)	REPS2 (E236K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304289	NM_004726.3(REPS2):c.700G>T (p.Val234Phe)	REPS2 (V234F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294095	NM_004726.3(REPS2):c.200C>G (p.Thr67Arg)	REPS2 (T67R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285768	NM_004726.3(REPS2):c.1820A>C (p.Lys607Thr)	REPS2 (K607T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269228	NM_004726.3(REPS2):c.1294A>G (p.Ile432Val)	REPS2 (I431V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238194	NM_004726.3(REPS2):c.1748C>T (p.Ser583Phe)	REPS2 (S582F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215263	NM_004726.3(REPS2):c.722C>T (p.Ser241Leu)	REPS2 (S240L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808772	GRCh37/hg19 Xp22.2-22.13(chrX:16985922-17729022)x3	NHS, REPS2	Copy number gain	not provided	GUncertain significance
Select item 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	ABCB7, ABCD1 +790 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 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 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 983193	GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1	ACE2, ACOT9 +304 more	Copy number loss	See cases	GPathogenic
Select item 980836	GRCh37/hg19 Xp22.2-22.13(chrX:16985921-17729022)x2	NHS, REPS2	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 816315	GRCh37/hg19 Xp22.2-22.13(chrX:16936982-17292905)x3	REPS2	Copy number gain	not provided	GUncertain significance
Select item 816314	GRCh37/hg19 Xp22.2-22.12(chrX:16194993-20640014)x2	MAP3K15, SCML1 +21 more	Copy number gain	not provided	GPathogenic
Select item 816311	GRCh37/hg19 Xp22.2-22.13(chrX:15415636-18339030)x1	RAI2, AP1S2 +19 more	Copy number loss	not provided	GUncertain significance
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 783904	NM_004726.3(REPS2):c.39A>G (p.Ala13=)	REPS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 742986	NM_004726.3(REPS2):c.1968G>A (p.Pro656=)	REPS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 726618	NM_004726.3(REPS2):c.217G>A (p.Gly73Ser)	REPS2 (G73S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 719558	NM_004726.3(REPS2):c.179C>T (p.Ala60Val)	REPS2 (A60V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 718261	NM_004726.3(REPS2):c.1857T>C (p.Asn619=)	REPS2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 689077	GRCh37/hg19 Xp22.2-22.11(chrX:13962918-22148232)x2	ACE2, ADGRG2 +46 more	Copy number gain	not provided	GPathogenic
Select item 689075	GRCh37/hg19 Xp22.2-22.11(chrX:13962918-22148232)x2	ACE2, ADGRG2 +46 more	Copy number gain	not provided	GPathogenic
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 685809	GRCh37/hg19 Xp22.2-22.11(chrX:15330714-21915234)x2	ACE2, ADGRG2 +39 more	Copy number gain	not provided	GPathogenic
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 626291	Single allele	AKAP14, CCDC22 +733 more	Duplication	Syndromic X-linked intellectual disability Lubs type	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 564793	GRCh37/hg19 Xp22.13(chrX:17134123-17653170)x2	NHS, REPS2	Copy number gain	not provided	GUncertain significance
Select item 564792	GRCh37/hg19 Xp22.2-22.13(chrX:16969302-17731092)x3	NHS, REPS2	Copy number gain	not provided	GUncertain significance
Select item 564791	GRCh37/hg19 Xp22.2-22.13(chrX:16709776-17445121)x2	RBBP7, TXLNG +4 more	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
Select item 564696	GRCh37/hg19 Xp22.33-11.23(chrX:168546-46908284)x1	ACE2, ACOT9 +170 more	Copy number loss	not provided	GPathogenic
Select item 564695	GRCh37/hg19 Xp22.33-11.3(chrX:168546-43248706)x1	ACE2, ACOT9 +154 more	Copy number loss	not provided	GPathogenic
Select item 564694	GRCh37/hg19 Xp22.33-22.11(chrX:168546-23785738)x1	PRDX4, ADGRG2 +94 more	Copy number loss	not provided	GPathogenic
Select item 564693	GRCh37/hg19 Xp22.33-22.13(chrX:168546-18601364)x1	STS, OFD1 +71 more	Copy number loss	not provided	GPathogenic
Select item 545379	Single allele	ACE2, ACE2-DT +399 more	Duplication	Autism	GLikely pathogenic
Select item 488014	Single allele	ARSF, CFAP47 +2632 more	Duplication	Autism +1 more	GPathogenic
Select item 443974	GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731)	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 443946	GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1	EIF1AX, EIF2S3 +539 more	Copy number loss	See cases	GPathogenic
Select item 443634	GRCh37/hg19 Xp22.33-21.1(chrX:168546-35841052)x1	ACE2, ACOT9 +127 more	Copy number loss	See cases	GPathogenic
Select item 443322	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1	ACE2, ACOT9 +314 more	Copy number loss	See cases	GPathogenic
Select item 443079	GRCh37/hg19 Xp22.2-22.13(chrX:16985921-17731101)x2	NHS, REPS2	Copy number gain	See cases	GUncertain significance
Select item 443028	GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1	SYN1, SYP +294 more	Copy number loss	See cases	GPathogenic
Select item 442812	GRCh37/hg19 Xp22.33-22.11(chrX:168546-24780527)x3	ACE2, ACOT9 +105 more	Copy number gain	See cases	GPathogenic
Select item 442790	GRCh37/hg19 Xp22.33-21.1(chrX:168546-37515849)x1	ACE2, ACOT9 +131 more	Copy number loss	See cases	GPathogenic

<< First< Prev

Page of 3