1106[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 2404

<< First< Prev

Page of 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057890, LOC130057891 +1766 more	Copy number gain	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	ABHD17C, ABHD2 +1246 more	Copy number gain	See cases	GPathogenic
Select item 147691	GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3	LETR1, LINC00052 +665 more	Copy number gain	See cases	GPathogenic
Select item 146595	GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3	LOC130057847, LOC130057848 +631 more	Copy number gain	See cases	GPathogenic
Select item 58580	GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3	PGPEP1L, PIRC76 +612 more	Copy number gain	See cases	GPathogenic
Select item 153554	GRCh38/hg38 15q25.3-26.3(chr15:85397539-101888909)x3	ABHD2, ACAN +553 more	Copy number gain	See cases	GPathogenic
Select item 148189	GRCh38/hg38 15q25.3-26.3(chr15:85826665-101920998)x4	IRAIN, ISG20 +518 more	Copy number gain	See cases	GPathogenic
Select item 146259	GRCh38/hg38 15q25.3-26.3(chr15:87904735-101843270)x3	ABHD2, ACAN +501 more	Copy number gain	See cases	GPathogenic
Select item 154660	GRCh38/hg38 15q26.1-26.3(chr15:88676575-98364743)x3	ABHD2, ACAN +311 more	Copy number gain	See cases	GPathogenic
Select item 58582	GRCh38/hg38 15q26.1-26.3(chr15:89679237-101978958)x3	ADAMTS17, ALDH1A3 +423 more	Copy number gain	See cases	GPathogenic
Select item 59385	GRCh38/hg38 15q26.1(chr15:92170113-93438995)x1	C15orf32, CHASERR +48 more	Copy number loss	See cases	GPathogenic
Select item 1704298	NM_001271.4(CHD2):c.-486T>C	CHD2, LOC130057985	Single nucleotide variant (5 prime UTR variant)	Developmental and epileptic encephalopathy	GLikely benign
Select item 420379	NM_001271.4(CHD2):c.-88_-87dup	CHD2	Duplication (5 prime UTR variant)	not provided	GLikely benign
Select item 508686	NM_001271.4(CHD2):c.-84C>T	CHD2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 420434	NM_001271.4(CHD2):c.-83dup	CHD2	Duplication (5 prime UTR variant)	not specified	GLikely benign
Select item 384922	NM_001271.4(CHD2):c.-72+12A>G	CHD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 151033	GRCh38/hg38 15q26.1(chr15:92900864-93043584)x1	CHD2, LOC126862227 +7 more	Copy number loss	See cases	GLikely pathogenic
Select item 385474	NM_001271.4(CHD2):c.-47A>G	CHD2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 161507	NM_001271.4(CHD2):c.2T>C (p.Met1Thr)	CHD2 (M1T)	Single nucleotide variant (missense variant +1 more)	Prostate cancer	GUncertain significance
Select item 3378031	NM_001271.4(CHD2):c.3G>T (p.Met1Ile)	CHD2 (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3678942	NM_001271.4(CHD2):c.4A>T (p.Met2Leu)	CHD2 (M2L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 3636661	NM_001271.4(CHD2):c.6G>A (p.Met2Ile)	CHD2 (M2I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 2780304	NM_001271.4(CHD2):c.11_14del (p.Asn4fs)	CHD2 (N4fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy 94	GPathogenic
Select item 1045197	NM_001271.4(CHD2):c.11A>G (p.Asn4Ser)	CHD2 (N4S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1404443	NM_001271.4(CHD2):c.12T>G (p.Asn4Lys)	CHD2 (N4K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 950790	NM_001271.4(CHD2):c.20A>G (p.Lys7Arg)	CHD2 (K7R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 1567104	NM_001271.4(CHD2):c.24C>T (p.Ser8=)	CHD2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 2053767	NM_001271.4(CHD2):c.30GGA[1] (p.Glu11del)	CHD2 (E11del)	Microsatellite (inframe_deletion)	Developmental and epileptic encephalopathy 94 +1 more	GUncertain significance
Select item 1136287	NM_001271.4(CHD2):c.30G>A (p.Glu10=)	CHD2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 94 +1 more	GLikely benign
Select item 3254727	NM_001271.4(CHD2):c.32A>G (p.Glu11Gly)	CHD2 (E11G)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 1017856	NM_001271.4(CHD2):c.40T>G (p.Ser14Ala)	CHD2 (S14A)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 1997233	NM_001271.4(CHD2):c.42G>C (p.Ser14=)	CHD2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 2706366	NM_001271.4(CHD2):c.44T>G (p.Leu15Arg)	CHD2 (L15R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 411859	NM_001271.4(CHD2):c.44T>C (p.Leu15Pro)	CHD2 (L15P)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 1145012	NM_001271.4(CHD2):c.45A>G (p.Leu15=)	CHD2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 1138284	NM_001271.4(CHD2):c.53A>G (p.Asn18Ser)	CHD2 (N18S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 1077476	NM_001271.4(CHD2):c.57A>G (p.Ala19=)	CHD2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 760564	NM_001271.4(CHD2):c.59C>T (p.Ser20Leu)	CHD2 (S20L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 393128	NM_001271.4(CHD2):c.59C>G (p.Ser20Trp)	CHD2 (S20W)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94 +1 more	GUncertain significance
Select item 807313	NM_001271.4(CHD2):c.62G>C (p.Ser21Thr)	CHD2 (S21T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2013479	NM_001271.4(CHD2):c.62+3A>G	CHD2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 94 +1 more	GUncertain significance
Select item 3661977	NM_001271.4(CHD2):c.62+8C>T	CHD2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 509806	NM_001271.4(CHD2):c.62+14A>C	CHD2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1966916	NM_001271.4(CHD2):c.62+18_62+21del	CHD2	Deletion (intron variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 3000546	NM_001271.4(CHD2):c.62+22_62+25del	CHD2	Deletion (intron variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 2723631	NM_001271.4(CHD2):c.62+19C>T	CHD2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 385208	NM_001271.4(CHD2):c.62+19C>A	CHD2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1243744	NM_001271.4(CHD2):c.62+40T>G	CHD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1879306	NM_001271.4(CHD2):c.62+3644G>C	CHD2, LOC126862227	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 677580	NM_001271.4(CHD2):c.63-214T>C	CHD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 678357	NM_001271.4(CHD2):c.63-197G>T	CHD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678358	NM_001271.4(CHD2):c.63-160C>T	CHD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 420427	NM_001271.4(CHD2):c.63-22TC[8]	CHD2	Microsatellite (intron variant)	not specified	GLikely benign
Select item 1418881	NM_001271.4(CHD2):c.63-22TC[5]	CHD2	Microsatellite (intron variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 2741931	NM_001271.4(CHD2):c.63-19C>G	CHD2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 388063	NM_001271.4(CHD2):c.63-19C>T	CHD2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2011917	NM_001271.4(CHD2):c.63-17C>G	CHD2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 508276	NM_001271.4(CHD2):c.63-15C>G	CHD2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 94 +1 more	GLikely benign
Select item 515514	NM_001271.4(CHD2):c.63-13C>A	CHD2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1707026	NM_001271.4(CHD2):c.63-9_63-8insTG	CHD2	Insertion (intron variant)	not provided	GUncertain significance
Select item 2861062	NM_001271.4(CHD2):c.63-5A>G	CHD2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 1700154	NM_001271.4(CHD2):c.66_69del (p.His22fs)	CHD2 (H22fs)	Deletion (frameshift variant)	Neurodevelopmental delay	GLikely pathogenic
Select item 1624181	NM_001271.4(CHD2):c.66C>T (p.His22=)	CHD2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 3706062	NM_001271.4(CHD2):c.72C>T (p.Ala24=)	CHD2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 1511668	NM_001271.4(CHD2):c.81A>C (p.Glu27Asp)	CHD2 (E27D)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 1653089	NM_001271.4(CHD2):c.87G>A (p.Ser29=)	CHD2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 2701473	NM_001271.4(CHD2):c.88G>A (p.Gly30Ser)	CHD2 (G30S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 657741	NM_001271.4(CHD2):c.98C>T (p.Ser33Leu)	CHD2 (S33L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 2112497	NM_001271.4(CHD2):c.99A>G (p.Ser33=)	CHD2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 1983074	NM_001271.4(CHD2):c.103A>G (p.Ser35Gly)	CHD2 (S35G)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 420607	NM_001271.4(CHD2):c.107A>T (p.Gln36Leu)	CHD2 (Q36L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2038339	NM_001271.4(CHD2):c.111G>A (p.Ser37=)	CHD2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 3698526	NM_001271.4(CHD2):c.115A>G (p.Ser39Gly)	CHD2 (S39G)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 2101871	NM_001271.4(CHD2):c.121del (p.Gln41fs)	CHD2 (Q41fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy 94	GPathogenic
Select item 3647076	NM_001271.4(CHD2):c.129T>C (p.Ser43=)	CHD2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 2121993	NM_001271.4(CHD2):c.140G>A (p.Ser47Asn)	CHD2 (S47N)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 3679642	NM_001271.4(CHD2):c.146A>G (p.His49Arg)	CHD2 (H49R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 433117	NM_001271.4(CHD2):c.149G>A (p.Gly50Asp)	CHD2 (G50D)	Single nucleotide variant (missense variant)	Self-limited epilepsy with centrotemporal spikes	GPathogenic
Select item 2721062	NM_001271.4(CHD2):c.151A>G (p.Ser51Gly)	CHD2 (S51G)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 386446	NM_001271.4(CHD2):c.153C>T (p.Ser51=)	CHD2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 2140656	NM_001271.4(CHD2):c.154G>A (p.Glu52Lys)	CHD2 (E52K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 952321	NM_001271.4(CHD2):c.158C>T (p.Ser53Leu)	CHD2 (S53L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 3044651	NM_001271.4(CHD2):c.159G>C (p.Ser53=)	CHD2	Single nucleotide variant (synonymous variant)	CHD2-related disorder	GLikely benign
Select item 2036401	NM_001271.4(CHD2):c.159G>T (p.Ser53=)	CHD2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 517675	NM_001271.4(CHD2):c.159G>A (p.Ser53=)	CHD2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 3371480	NM_001271.4(CHD2):c.169T>A (p.Ser57Thr)	CHD2 (S57T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1969826	NM_001271.4(CHD2):c.171T>G (p.Ser57=)	CHD2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 1669205	NM_001271.4(CHD2):c.171T>C (p.Ser57=)	CHD2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 512179	NM_001271.4(CHD2):c.174A>G (p.Glu58=)	CHD2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 94 +1 more	GLikely benign
Select item 699776	NM_001271.4(CHD2):c.180T>G (p.Ser60=)	CHD2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 2762787	NM_001271.4(CHD2):c.188_191del (p.Gln63fs)	CHD2 (Q63fs)	Microsatellite (frameshift variant)	Developmental and epileptic encephalopathy 94	GPathogenic
Select item 955780	NM_001271.4(CHD2):c.184A>C (p.Ser62Arg)	CHD2 (S62R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 279756	NM_001271.4(CHD2):c.185G>A (p.Ser62Asn)	CHD2 (S62N)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94 +1 more	GUncertain significance
Select item 3630135	NM_001271.4(CHD2):c.188A>G (p.Gln63Arg)	CHD2 (Q63R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 1101599	NM_001271.4(CHD2):c.189G>T (p.Gln63His)	CHD2 (Q63H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 1686562	NM_001271.4(CHD2):c.190T>A (p.Ser64Thr)	CHD2 (S64T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94 +1 more	GUncertain significance
Select item 1303167	NM_001271.4(CHD2):c.191C>T (p.Ser64Leu)	CHD2 (S64L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1152018	NM_001271.4(CHD2):c.192G>A (p.Ser64=)	CHD2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 1005407	NM_001271.4(CHD2):c.194A>C (p.Glu65Ala)	CHD2 (E65A)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 2184413	NM_001271.4(CHD2):c.204C>T (p.Ser68=)	CHD2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 94	GLikely benign

<< First< Prev

Page of 25