80816[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 808

<< First< Prev

Page of 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	ABHD3, ACAA2 +1646 more	Copy number gain	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC126862711, LOC126862712 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC130062667, LOC130062668 +1643 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062278, LOC130062279 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC126862732, LOC126862733 +1643 more	Copy number gain	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	ANKRD12, ANKRD29 +1642 more	Copy number gain	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	SERPINB12, SERPINB13 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC125368553, LOC125368554 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062355, LOC130062356 +1642 more	Copy number gain	See cases	GPathogenic
Select item 154073	GRCh38/hg38 18q11.1-12.3(chr18:20941324-40360620)x3	ABHD3, ANKRD29 +378 more	Copy number gain	See cases	GPathogenic
Select item 153150	GRCh38/hg38 18q11.1-12.1(chr18:20949378-34363455)x3	ABHD3, ANKRD29 +282 more	Copy number gain	See cases	GPathogenic
Select item 58756	GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	LOC126862717, LOC126862718 +1266 more	Copy number gain	See cases	GPathogenic
Select item 154990	GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	LOC132090510, LOC132090511 +1089 more	Copy number gain	See cases	GPathogenic
Select item 58762	GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	LOC132211113, LOC132211114 +1266 more	Copy number gain	See cases	GPathogenic
Select item 57393	GRCh38/hg38 18q12.1-12.3(chr18:29444510-40403652)x1	ASXL3, B4GALT6 +167 more	Copy number loss	See cases	GPathogenic
Select item 57135	GRCh38/hg38 18q12.1-12.3(chr18:31655749-42564094)x3	ASXL3, B4GALT6 +146 more	Copy number gain	See cases	GPathogenic
Select item 59958	GRCh38/hg38 18q12.1-12.3(chr18:32111530-44070219)x1	ASXL3, C18orf21 +129 more	Copy number loss	See cases	GPathogenic
Select item 147738	GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3	LOC130062787, LOC130062788 +1005 more	Copy number gain	See cases	GPathogenic
Select item 152984	GRCh38/hg38 18q12.1(chr18:32462656-34463256)x1	ASXL3, CCDC178 +12 more	Copy number loss	See cases	GBenign
Select item 149244	GRCh38/hg38 18q12.1-12.2(chr18:33373798-37364748)x1	ASXL3, C18orf21 +84 more	Copy number loss	See cases	GLikely pathogenic
Select item 1249512	NM_030632.3(ASXL3):c.-363C>A	ASXL3	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1296668	NM_030632.3(ASXL3):c.-171GCC[14]	ASXL3	Microsatellite (5 prime UTR variant)	not provided	GBenign
Select item 1203880	NM_030632.3(ASXL3):c.-171GCC[15]	ASXL3	Microsatellite (5 prime UTR variant)	not provided	GLikely benign
Select item 1296078	NM_030632.3(ASXL3):c.-171GCC[12]	ASXL3	Microsatellite (5 prime UTR variant)	not provided	GBenign
Select item 1214936	NM_030632.3(ASXL3):c.-171GCC[10]	ASXL3	Microsatellite (5 prime UTR variant)	not provided	GLikely benign
Select item 1199636	NM_030632.3(ASXL3):c.-171_-159del	ASXL3	Deletion (5 prime UTR variant)	not provided	GLikely benign
Select item 817736	NM_030632.3(ASXL3):c.10_11del (p.Lys4fs)	ASXL3 (K4fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2240537	NM_030632.3(ASXL3):c.29G>A (p.Arg10His)	ASXL3 (R10H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3365650	NM_030632.3(ASXL3):c.35G>C (p.Trp12Ser)	ASXL3 (W12S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435563	NM_030632.3(ASXL3):c.36G>A (p.Trp12Ter)	ASXL3 (W12*)	Single nucleotide variant (nonsense)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GLikely pathogenic
Select item 1203778	NM_030632.3(ASXL3):c.54+222_54+231dup	ASXL3	Duplication (intron variant)	not provided	GLikely benign
Select item 1225338	NM_030632.3(ASXL3):c.54+306C>T	ASXL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274140	NM_030632.3(ASXL3):c.55-40T>C	ASXL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1418666	NM_030632.3(ASXL3):c.61G>A (p.Glu21Lys)	ASXL3 (E21K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3233629	NM_030632.3(ASXL3):c.67C>T (p.His23Tyr)	ASXL3 (H23Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1175932	NM_030632.3(ASXL3):c.72C>T (p.Pro24=)	ASXL3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1273037	NM_030632.3(ASXL3):c.137+66G>A	ASXL3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1227429	NM_030632.3(ASXL3):c.137+270C>A	ASXL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215000	NM_030632.3(ASXL3):c.137+294T>G	ASXL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2630606	NM_030632.3(ASXL3):c.137+9017_137+9018del	ASXL3	Deletion (intron variant)	ASXL3-related disorder	GUncertain significance
Select item 2648637	NM_030632.3(ASXL3):c.138-17969A>G	ASXL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196310	NM_030632.3(ASXL3):c.138-336del	ASXL3	Deletion (intron variant)	not provided	GLikely benign
Select item 1179618	NM_030632.3(ASXL3):c.138-334_138-333insC	ASXL3	Insertion (intron variant)	not provided	GLikely benign
Select item 3341888	NM_030632.3(ASXL3):c.169A>G (p.Met57Val)	ASXL3 (M57V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3026984	NM_030632.3(ASXL3):c.193G>A (p.Gly65Arg)	ASXL3 (G65R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1290602	NM_030632.3(ASXL3):c.195G>A (p.Gly65=)	ASXL3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 2555562	NM_030632.3(ASXL3):c.227C>T (p.Ser76Leu)	ASXL3 (S76L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3029592	NM_030632.3(ASXL3):c.246+10A>G	ASXL3	Single nucleotide variant (intron variant)	ASXL3-related disorder	GLikely benign
Select item 1192335	NM_030632.3(ASXL3):c.246+64G>T	ASXL3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1186458	NM_030632.3(ASXL3):c.246+180A>G	ASXL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188694	NM_030632.3(ASXL3):c.247-263dup	ASXL3	Duplication (intron variant)	not provided	GLikely benign
Select item 1296072	NM_030632.3(ASXL3):c.247-209A>G	ASXL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241082	NM_030632.3(ASXL3):c.247-151T>C	ASXL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192739	NM_030632.3(ASXL3):c.247-150G>A	ASXL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3031913	NM_030632.3(ASXL3):c.258G>A (p.Ser86=)	ASXL3	Single nucleotide variant (synonymous variant)	ASXL3-related disorder	GLikely benign
Select item 2439301	NM_030632.3(ASXL3):c.272A>G (p.Asp91Gly)	ASXL3 (D91G)	Single nucleotide variant (missense variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GUncertain significance
Select item 1028388	NM_030632.3(ASXL3):c.314C>A (p.Thr105Lys)	ASXL3 (T105K)	Single nucleotide variant (missense variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GUncertain significance
Select item 1311310	NM_030632.3(ASXL3):c.332A>C (p.Asn111Thr)	ASXL3 (N111T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1187697	NM_030632.3(ASXL3):c.335C>A (p.Ala112Asp)	ASXL3 (A112D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2648638	NM_030632.3(ASXL3):c.336C>T (p.Ala112=)	ASXL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 434425	NM_030632.3(ASXL3):c.337C>T (p.His113Tyr)	ASXL3 (H113Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1226096	NM_030632.3(ASXL3):c.351T>C (p.Asn117=)	ASXL3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1224075	NM_030632.3(ASXL3):c.355+257C>T	ASXL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230067	NM_030632.3(ASXL3):c.355+282G>A	ASXL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192336	NM_030632.3(ASXL3):c.356-83C>G	ASXL3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 3356118	NM_030632.3(ASXL3):c.356-8G>C	ASXL3	Single nucleotide variant (intron variant)	ASXL3-related disorder	GLikely benign
Select item 2614526	NM_030632.3(ASXL3):c.364A>C (p.Lys122Gln)	ASXL3 (K122Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2579908	NM_030632.3(ASXL3):c.380A>G (p.Glu127Gly)	ASXL3 (E127G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439294	NM_030632.3(ASXL3):c.394C>A (p.Arg132=)	ASXL3	Single nucleotide variant (synonymous variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GUncertain significance
Select item 1205710	NM_030632.3(ASXL3):c.410C>T (p.Thr137Ile)	ASXL3 (T137I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1675700	NM_030632.3(ASXL3):c.419C>T (p.Ala140Val)	ASXL3 (A140V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2439286	NM_030632.3(ASXL3):c.464A>G (p.Lys155Arg)	ASXL3 (K155R)	Single nucleotide variant (missense variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GUncertain significance
Select item 1266733	NM_030632.3(ASXL3):c.477+67G>C	ASXL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1206988	NM_030632.3(ASXL3):c.477+131A>T	ASXL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197817	NM_030632.3(ASXL3):c.477+151A>G	ASXL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1271903	NM_030632.3(ASXL3):c.477+169dup	ASXL3	Duplication (intron variant)	not provided	GBenign
Select item 1223005	NM_030632.3(ASXL3):c.477+168_477+169dup	ASXL3	Duplication (intron variant)	not provided	GBenign
Select item 1204856	NM_030632.3(ASXL3):c.477+162_477+163insC	ASXL3	Insertion (intron variant)	not provided	GLikely benign
Select item 1198664	NM_030632.3(ASXL3):c.477+169A>G	ASXL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1178982	NM_030632.3(ASXL3):c.477+254C>T	ASXL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191601	NM_030632.3(ASXL3):c.478-27_478-23del	ASXL3	Deletion (intron variant)	not provided	GLikely benign
Select item 1684142	NM_030632.3(ASXL3):c.493C>T (p.Gln165Ter)	ASXL3 (Q165*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1253841	NM_030632.3(ASXL3):c.511G>A (p.Val171Ile)	ASXL3 (V171I)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1246157	NM_030632.3(ASXL3):c.514T>C (p.Ser172Pro)	ASXL3 (S172P)	Single nucleotide variant (missense variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome +2 more	GBenign/Likely benign
Select item 2251615	NM_030632.3(ASXL3):c.520A>G (p.Met174Val)	ASXL3 (M174V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3364561	NM_030632.3(ASXL3):c.539del (p.Pro180fs)	ASXL3 (P180fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3340377	NM_030632.3(ASXL3):c.542G>A (p.Arg181His)	ASXL3 (R181H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2572965	NM_030632.3(ASXL3):c.567G>A (p.Val189=)	ASXL3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2648639	NM_030632.3(ASXL3):c.588G>C (p.Ser196=)	ASXL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1178428	NM_030632.3(ASXL3):c.595+174C>T	ASXL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278300	NM_030632.3(ASXL3):c.595+334G>A	ASXL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201796	NM_030632.3(ASXL3):c.596-291C>T	ASXL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2318201	NM_030632.3(ASXL3):c.613G>A (p.Gly205Ser)	ASXL3 (G205S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1289415	NM_030632.3(ASXL3):c.621A>T (p.Ala207=)	ASXL3	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2439287	NM_030632.3(ASXL3):c.641T>C (p.Met214Thr)	ASXL3 (M214T)	Single nucleotide variant (missense variant)	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	GUncertain significance
Select item 2507206	NM_030632.3(ASXL3):c.656A>C (p.Lys219Thr)	ASXL3 (K219T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3250791	NM_030632.3(ASXL3):c.666T>C (p.Thr222=)	ASXL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2572917	NM_030632.3(ASXL3):c.675A>G (p.Gln225=)	ASXL3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3027048	NM_030632.3(ASXL3):c.688T>C (p.Leu230=)	ASXL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1453115	NM_030632.3(ASXL3):c.694C>T (p.Arg232Ter)	ASXL3 (R232*)	Single nucleotide variant (nonsense)	not provided	GPathogenic

<< First< Prev

Page of 9