3786[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 1367

<< First< Prev

Page of 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC130000015, LOC130000016 +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	DEFA1B, DEFA3 +3658 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	LOC110121192, LOC110121196 +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	AARD, ABRA +3652 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	LOC130000067, LOC130000068 +3656 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	GPAT4, GPAT4-AS1 +3106 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC130000897, LOC130000898 +1960 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	PARP10, PCAT1 +1690 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC130000867, LOC130000868 +1686 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC130001282, LOC130001283 +1552 more	Copy number gain	See cases	GPathogenic
Select item 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1152 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	AARD, ABRA +1531 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130000908, LOC130000909 +1406 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	AARD, ABRA +1329 more	Copy number gain	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130001243, LOC130001244 +1204 more	Copy number gain	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001328, LOC130001329 +1067 more	Copy number gain	See cases	GPathogenic
Select item 57045	GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3	LOC114827840, LOC121331310 +961 more	Copy number gain	See cases	GPathogenic
Select item 2579176	GRCh38/hg38 8q23.3-24.23(chr8:115586904-135607135)x3	CCN3, CCN4 +558 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 148271	GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3	ADCK5, ADCY8 +746 more	Copy number gain	See cases	GPathogenic
Select item 33826	GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3	LOC129390060, LOC129929031 +745 more	Copy number gain	See cases	GPathogenic
Select item 57179	GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3	ADCK5, ADCY8 +567 more	Copy number gain	See cases	GPathogenic
Select item 57119	GRCh38/hg38 8q24.21-24.22(chr8:129176782-134170188)x1	ADCY8, ASAP1 +131 more	Copy number loss	See cases	GPathogenic
Select item 144139	GRCh38/hg38 8q24.21-24.3(chr8:130115518-141228210)x3	LOC130001286, LOC130001287 +206 more	Copy number gain	See cases	GPathogenic
Select item 148571	GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3	LOC126860527, LOC126860528 +499 more	Copy number gain	See cases	GPathogenic
Select item 144285	GRCh38/hg38 8q24.22(chr8:131770098-132203964)x3	EFR3A, HHLA1 +12 more	Copy number gain	See cases	GUncertain significance
Select item 361745	NM_004519.4(KCNQ3):c.*8148G>A	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Benign Neonatal Epilepsy +1 more	GBenign
Select item 911262	NM_004519.4(KCNQ3):c.*8102G>A	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 361746	NM_004519.4(KCNQ3):c.*7980dup	KCNQ3	Duplication (3 prime UTR variant)	Benign Neonatal Epilepsy +1 more	GUncertain significance
Select item 911263	NM_004519.4(KCNQ3):c.*7923G>C	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 361747	NM_004519.4(KCNQ3):c.*7722T>A	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2 +1 more	GBenign/Likely benign
Select item 361748	NM_004519.4(KCNQ3):c.*7689A>G	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2 +1 more	GBenign/Likely benign
Select item 361749	NM_004519.4(KCNQ3):c.*7512T>G	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Benign Neonatal Epilepsy +1 more	GUncertain significance
Select item 361750	NM_004519.4(KCNQ3):c.*7506C>T	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Benign neonatal seizures +1 more	GBenign
Select item 361751	NM_004519.4(KCNQ3):c.*7504C>G	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Benign neonatal seizures +1 more	GBenign/Likely benign
Select item 361752	NM_004519.4(KCNQ3):c.*7464C>A	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Benign Neonatal Epilepsy +1 more	GBenign/Likely benign
Select item 911460	NM_004519.4(KCNQ3):c.*7461G>A	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2	GBenign
Select item 361753	NM_004519.4(KCNQ3):c.*7413G>C	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Benign neonatal seizures +1 more	GBenign/Likely benign
Select item 911461	NM_004519.4(KCNQ3):c.*7408G>T	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 361754	NM_004519.4(KCNQ3):c.*7371T>G	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2 +1 more	GBenign
Select item 361755	NM_004519.4(KCNQ3):c.*7331A>G	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Benign Neonatal Epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 361756	NM_004519.4(KCNQ3):c.*7243C>G	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Benign neonatal seizures +1 more	GUncertain significance
Select item 361757	NM_004519.4(KCNQ3):c.*7221C>T	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2 +1 more	GBenign
Select item 361758	NM_004519.4(KCNQ3):c.*7214G>A	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Benign Neonatal Epilepsy +1 more	GBenign/Likely benign
Select item 908485	NM_004519.4(KCNQ3):c.*7204G>A	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 908486	NM_004519.4(KCNQ3):c.*7160C>G	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 361759	NM_004519.4(KCNQ3):c.*7143A>G	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Benign neonatal seizures +1 more	GBenign
Select item 361760	NM_004519.4(KCNQ3):c.*7131G>A	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Benign neonatal seizures +1 more	GBenign
Select item 908487	NM_004519.4(KCNQ3):c.*7130C>T	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2	GBenign
Select item 361761	NM_004519.4(KCNQ3):c.*7119C>T	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2 +1 more	GBenign
Select item 361762	NM_004519.4(KCNQ3):c.*7095T>G	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Benign neonatal seizures +1 more	GBenign
Select item 361763	NM_004519.4(KCNQ3):c.*7075A>G	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Benign Neonatal Epilepsy +1 more	GBenign
Select item 909338	NM_004519.4(KCNQ3):c.*7044C>G	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 361764	NM_004519.4(KCNQ3):c.*7033T>C	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2 +1 more	GBenign
Select item 361765	NM_004519.4(KCNQ3):c.*7015G>A	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Benign neonatal seizures +1 more	GUncertain significance
Select item 361766	NM_004519.4(KCNQ3):c.*6956A>G	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2 +1 more	GBenign
Select item 909339	NM_004519.4(KCNQ3):c.*6913A>G	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 361767	NM_004519.4(KCNQ3):c.*6874C>G	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2 +1 more	GBenign
Select item 361768	NM_004519.4(KCNQ3):c.*6831G>A	KCNQ3	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 361769	NM_004519.4(KCNQ3):c.*6812A>G	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Benign Neonatal Epilepsy +1 more	GBenign
Select item 910303	NM_004519.4(KCNQ3):c.*6725A>C	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 910304	NM_004519.4(KCNQ3):c.*6665A>G	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 361770	NM_004519.4(KCNQ3):c.*6632T>C	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2 +1 more	GBenign
Select item 361771	NM_004519.4(KCNQ3):c.*6607A>G	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2 +1 more	GUncertain significance
Select item 361772	NM_004519.4(KCNQ3):c.*6461G>A	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Benign neonatal seizures +1 more	GUncertain significance
Select item 361773	NM_004519.4(KCNQ3):c.*6460C>T	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2 +1 more	GUncertain significance
Select item 910305	NM_004519.4(KCNQ3):c.*6455G>T	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 361774	NM_004519.4(KCNQ3):c.*6446del	KCNQ3	Deletion (3 prime UTR variant)	Benign Neonatal Epilepsy +1 more	GLikely benign
Select item 910306	NM_004519.4(KCNQ3):c.*6384A>G	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 911518	NM_004519.4(KCNQ3):c.*6359C>T	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 361775	NM_004519.4(KCNQ3):c.*6351A>G	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Benign neonatal seizures +1 more	GUncertain significance
Select item 361776	NM_004519.4(KCNQ3):c.*6340G>A	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Benign Neonatal Epilepsy +1 more	GBenign
Select item 361777	NM_004519.4(KCNQ3):c.*6282A>T	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2 +1 more	GBenign
Select item 361778	NM_004519.4(KCNQ3):c.*6267T>C	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2 +1 more	GConflicting classifications of pathogenicity
Select item 361779	NM_004519.4(KCNQ3):c.*6238T>C	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Benign Neonatal Epilepsy +1 more	GBenign
Select item 361780	NM_004519.4(KCNQ3):c.*6205G>T	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Benign neonatal seizures +1 more	GUncertain significance
Select item 361781	NM_004519.4(KCNQ3):c.*6199C>T	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Benign neonatal seizures +1 more	GBenign/Likely benign
Select item 361782	NM_004519.4(KCNQ3):c.*6174A>G	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2 +1 more	GBenign/Likely benign
Select item 908555	NM_004519.4(KCNQ3):c.*6142T>C	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 1701556	NM_004519.4(KCNQ3):c.*6046G>A	KCNQ3	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 908556	NM_004519.4(KCNQ3):c.*6042A>G	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 908557	NM_004519.4(KCNQ3):c.*6035G>T	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 908558	NM_004519.4(KCNQ3):c.*5971C>A	KCNQ3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 361783	NM_004519.4(KCNQ3):c.*5965T>C	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2 +2 more	GBenign/Likely benign
Select item 361784	NM_004519.4(KCNQ3):c.*5932A>C	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Benign Neonatal Epilepsy +1 more	GBenign
Select item 361785	NM_004519.4(KCNQ3):c.*5762G>A	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Benign neonatal seizures +1 more	GBenign/Likely benign
Select item 361786	NM_004519.4(KCNQ3):c.*5761C>T	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2 +1 more	GUncertain significance
Select item 361787	NM_004519.4(KCNQ3):c.*5719C>T	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Benign neonatal seizures +1 more	GBenign
Select item 361788	NM_004519.4(KCNQ3):c.*5704C>T	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2 +1 more	GBenign/Likely benign
Select item 909419	NM_004519.4(KCNQ3):c.*5622C>A	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 361789	NM_004519.4(KCNQ3):c.*5580G>A	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2 +1 more	GUncertain significance
Select item 361790	NM_004519.4(KCNQ3):c.*5578A>G	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Benign neonatal seizures +1 more	GBenign/Likely benign
Select item 361791	NM_004519.4(KCNQ3):c.*5521C>T	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Benign neonatal seizures +1 more	GUncertain significance
Select item 361792	NM_004519.4(KCNQ3):c.*5482A>G	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2 +1 more	GBenign/Likely benign
Select item 361793	NM_004519.4(KCNQ3):c.*5466T>A	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2 +1 more	GUncertain significance
Select item 910365	NM_004519.4(KCNQ3):c.*5454T>A	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 910366	NM_004519.4(KCNQ3):c.*5423T>A	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 361794	NM_004519.4(KCNQ3):c.*5391C>T	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Benign neonatal seizures +2 more	GConflicting classifications of pathogenicity
Select item 910367	NM_004519.4(KCNQ3):c.*5369G>A	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 361795	NM_004519.4(KCNQ3):c.*5255T>C	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Benign neonatal seizures +1 more	GBenign/Likely benign
Select item 361796	NM_004519.4(KCNQ3):c.*5018C>G	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2 +1 more	GBenign/Likely benign

<< First< Prev

Page of 14