ClinVar for Gene (Select 1968) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 208

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3052656	NM_001415.4(EIF2S3):c.106A>G (p.Ile36Val)	EIF2S3 (I36V)	Single nucleotide variant (missense variant)	EIF2S3-related condition	GUncertain significance
Select item 3026823	NM_001415.4(EIF2S3):c.281C>G (p.Pro94Arg)	EIF2S3 (P94R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026596	NM_001415.4(EIF2S3):c.1111T>C (p.Leu371=)	EIF2S3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024228	NM_001415.4(EIF2S3):c.620T>C (p.Ile207Thr)	EIF2S3 (I207T)	Single nucleotide variant (missense variant)	MEHMO syndrome	GLikely pathogenic
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 2660182	NM_001415.4(EIF2S3):c.383+3G>A	EIF2S3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2660181	NM_001415.4(EIF2S3):c.48G>C (p.Ser16=)	EIF2S3, LOC130068055	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660180	NM_001415.4(EIF2S3):c.27T>C (p.Thr9=)	EIF2S3, LOC130068055	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2627784	NM_001415.4(EIF2S3):c.65C>T (p.Thr22Ile)	EIF2S3, LOC130068055 (T22I)	Single nucleotide variant (missense variant)	MEHMO syndrome	GUncertain significance
Select item 2627004	NM_001415.4(EIF2S3):c.626C>G (p.Ala209Gly)	EIF2S3 (A209G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2599365	NM_001415.4(EIF2S3):c.626C>T (p.Ala209Val)	EIF2S3 (A209V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2585434	NM_001415.4(EIF2S3):c.717A>G (p.Ile239Met)	EIF2S3 (I239M)	Single nucleotide variant (missense variant)	MEHMO syndrome	GUncertain significance
Select item 2579271	GRCh38/hg38 Xp22.11-21.1(chrX:23730430-32849918)x3	ACOT9, APOO +113 more	Copy number gain	Polymicrogyria	GPathogenic
Select item 2574768	NM_001415.4(EIF2S3):c.1309G>A (p.Val437Ile)	EIF2S3 (V437I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	BMX, CXorf38 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2504521	NM_001415.4(EIF2S3):c.622C>T (p.Leu208Phe)	EIF2S3 (L208F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2479423	NM_001415.4(EIF2S3):c.764G>A (p.Arg255Gln)	EIF2S3 (R255Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289259	NM_001415.4(EIF2S3):c.286T>G (p.Cys96Gly)	EIF2S3 (C96G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264047	NM_001415.4(EIF2S3):c.262-6T>G	EIF2S3	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2231648	NM_001415.4(EIF2S3):c.867+4A>G	EIF2S3	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2227458	NM_001415.4(EIF2S3):c.885A>C (p.Glu295Asp)	EIF2S3 (E295D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1878681	NM_001415.4(EIF2S3):c.733G>C (p.Val245Leu)	EIF2S3 (V245L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1878657	NM_001415.4(EIF2S3):c.1046G>A (p.Arg349Gln)	EIF2S3 (R349Q)	Single nucleotide variant (missense variant)	MEHMO syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	MIR224, MIR424 +793 more	Copy number loss	See cases	GPathogenic
Select item 1706209	NM_001415.4(EIF2S3):c.139A>G (p.Ile47Val)	EIF2S3 (I47V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1704345	GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	CT55, CT83 +821 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 +822 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	SCML2, SEPTIN6 +822 more	Copy number gain	Hypotonia +2 more	GPathogenic
Select item 1686856	NM_001415.4(EIF2S3):c.1294C>T (p.Pro432Ser)	EIF2S3	Single nucleotide variant (missense variant)	MEHMO syndrome	GPathogenic
Select item 1526773	GRCh37/hg19 Xp22.11(chrX:23874615-24574925)	APOO, CXorf58 +6 more	Copy number gain	not specified	GUncertain significance
Select item 1526771	GRCh37/hg19 Xp22.11-21.2(chrX:23105194-31458625)	ACOT9, APOO +30 more	Copy number gain	not specified	GUncertain significance
Select item 1341233	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	CXorf51B, GAGE12H +821 more	Copy number loss	not provided	GPathogenic
Select item 1341223	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	ABCB7, ABCD1 +821 more	Copy number gain	not provided	GPathogenic
Select item 1340678	GRCh37/hg19 Xp22.11(chrX:23968582-24177078)x3	KLHL15, EIF2S3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1340621	GRCh37/hg19 Xp22.11(chrX:23993916-24147942)x2	EIF2S3, KLHL15	Copy number gain	not provided	GUncertain significance
Select item 1340333	GRCh37/hg19 Xp22.11(chrX:23977058-24177078)x2	EIF2S3, KLHL15 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1336094	NM_001415.4(EIF2S3):c.280C>A (p.Pro94Thr)	EIF2S3 (P94T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1326510	NM_001415.4(EIF2S3):c.929T>A (p.Met310Lys)	EIF2S3 (M310K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1313321	NM_001415.4(EIF2S3):c.379G>A (p.Val127Ile)	EIF2S3 (V127I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1254423	NM_001415.4(EIF2S3):c.670A>G (p.Ile224Val)	EIF2S3 (I224V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1253858	NM_001415.4(EIF2S3):c.1003G>A (p.Gly335Ser)	EIF2S3 (G335S)	Single nucleotide variant (missense variant)	MEHMO syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	CXorf49B, CXorf51A +821 more	Copy number loss	not provided	GPathogenic
Select item 1077096	NM_001415.4(EIF2S3):c.820C>G (p.Leu274Val)	EIF2S3 (L274V)	Single nucleotide variant (missense variant)	MEHMO syndrome	GLikely pathogenic
Select item 1065472	NM_001415.4(EIF2S3):c.1403C>G (p.Thr468Arg)	EIF2S3 (T468R)	Single nucleotide variant (missense variant)	MEHMO syndrome	GUncertain significance
Select item 1033838	NM_001415.4(EIF2S3):c.1183-15A>G	EIF2S3	Single nucleotide variant (intron variant)	MEHMO syndrome	GUncertain significance
Select item 1013363	NM_001415.4(EIF2S3):c.675A>G (p.Ser225=)	EIF2S3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1013362	NM_001415.4(EIF2S3):c.306T>C (p.Tyr102=)	EIF2S3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 985751	NM_001415.4(EIF2S3):c.274G>A (p.Asp92Asn)	EIF2S3 (D92N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 816622	GRCh37/hg19 Xp22.33-21.1(chrX:168546-34753512)x1	FANCB, ARSD-AS1 +125 more	Copy number loss	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 810536	NM_001415.4(EIF2S3):c.797A>T (p.Lys266Ile)	EIF2S3 (K266I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 810535	NM_001415.4(EIF2S3):c.28C>T (p.Leu10=)	EIF2S3, LOC130068055	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 810534	NM_001415.4(EIF2S3):c.6G>T (p.Ala2=)	EIF2S3, LOC130068055	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 804299	NM_001415.4(EIF2S3):c.433A>G (p.Met145Val)	EIF2S3 (M145V)	Single nucleotide variant (missense variant)	MEHMO syndrome	GLikely pathogenic
Select item 796623	NM_001415.4(EIF2S3):c.417T>C (p.Asp139=)	EIF2S3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 784431	NM_001415.4(EIF2S3):c.123A>G (p.Thr41=)	EIF2S3	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 754046	NM_001415.4(EIF2S3):c.912T>C (p.Asp304=)	EIF2S3	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 748808	NM_001415.4(EIF2S3):c.1314A>G (p.Gly438=)	EIF2S3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 740363	NM_001415.4(EIF2S3):c.966T>C (p.Phe322=)	EIF2S3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 738026	NM_001415.4(EIF2S3):c.867+7T>C	EIF2S3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 688137	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	RBMXL3, RENBP +821 more	Copy number loss	not provided	GPathogenic
Select item 686970	GRCh37/hg19 Xp22.12-21.1(chrX:20925922-35511818)x1	ACOT9, APOO +42 more	Copy number loss	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	ZNF275, ZNF280C +821 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	PAGE2B, PAGE3 +733 more	Duplication	Syndromic X-linked intellectual disability Lubs type	GPathogenic
Select item 624392	NM_001415.4(EIF2S3):c.289C>T (p.Pro97Ser)	EIF2S3 (P97S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 564803	GRCh37/hg19 Xp22.11(chrX:23373804-24332336)x2	SAT1, ACOT9 +8 more	Copy number gain	not provided	GUncertain significance
Select item 564802	GRCh37/hg19 Xp22.11-21.3(chrX:23371361-25493197)x3	ARX, APOO +13 more	Copy number gain	not provided	GUncertain significance
Select item 564772	GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2	ABCB7, ACE2 +415 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 512433	NM_001415.4(EIF2S3):c.134-4A>G	EIF2S3	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 488501	NM_001415.4(EIF2S3):c.431C>T (p.Thr144Ile)	EIF2S3 (T144I)	Single nucleotide variant (missense variant)	MEHMO syndrome	GLikely pathogenic
Select item 488014	Single allele	ARMCX3, CT47A11 +2631 more	Duplication	Autism +1 more	GPathogenic
Select item 451349	NM_001415.4(EIF2S3):c.5C>G (p.Ala2Gly)	EIF2S3, LOC130068055 (A2G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 449956	NM_001415.4(EIF2S3):c.134-6C>G	EIF2S3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 443974	GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731)	ABCB7, ABCD1 +821 more	Copy number gain	See cases	GPathogenic
Select item 443946	GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1	BEX5, BMP15 +541 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 +316 more	Copy number loss	See cases	GPathogenic
Select item 443028	GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1	TCEANC, TFE3 +296 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 +133 more	Copy number loss	See cases	GPathogenic
Select item 442724	GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1	MAGEE1, MAGEE2 +733 more	Copy number loss	See cases	GPathogenic
Select item 442354	GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686)	ABCB7, ACE2 +392 more	Copy number loss	See cases	GPathogenic
Select item 442162	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1	ACE2, ACOT9 +302 more	Copy number loss	See cases	GPathogenic
Select item 442067	GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1	ACE2, ACOT9 +314 more	Copy number loss	See cases	GPathogenic
Select item 442024	GRCh37/hg19 Xp22.2-21.2(chrX:15290524-29747172)x2	ACE2, ACOT9 +65 more	Copy number gain	See cases	GLikely pathogenic
Select item 441995	GRCh37/hg19 Xp22.33-21.2(chrX:168546-31085327)x1	ACE2, ACOT9 +121 more	Copy number loss	See cases	GPathogenic

<< First< Prev

Page of 3