51124[Gene ID] - ClinVar - NCBI

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	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 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 147738	GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3	LOC130062787, LOC130062788 +1005 more	Copy number gain	See cases	GPathogenic
Select item 59960	GRCh38/hg38 18q12.2-21.1(chr18:36859191-47164436)x1	ARK2C, ARK2N +119 more	Copy number loss	See cases	GPathogenic
Select item 147762	GRCh38/hg38 18q12.2-22.1(chr18:38794728-65632804)x3	ACAA2, ALPK2 +596 more	Copy number gain	See cases	GPathogenic
Select item 154074	GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3	LOC130062694, LOC130062695 +887 more	Copy number gain	See cases	GPathogenic
Select item 154629	GRCh38/hg38 18q12.3-21.1(chr18:41722823-49043887)x1	ARK2C, ARK2N +147 more	Copy number loss	See cases	GPathogenic
Select item 148972	GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3	LINC01929, LINC02565 +879 more	Copy number gain	See cases	GPathogenic
Select item 433137	NM_016097.5(IER3IP1):c.*58T>C	IER3IP1	Single nucleotide variant (3 prime UTR variant)	Childhood epilepsy with centrotemporal spikes +2 more	GConflicting classifications of pathogenicity
Select item 539836	NC_000018.9:g.(?_44682528)_(44702668_?)dup	IER3IP1, LOC130062441	Duplication	Microcephaly, epilepsy, and diabetes syndrome	GUncertain significance
Select item 1116221	NM_016097.5(IER3IP1):c.248G>A (p.Ter83=)	IER3IP1	Single nucleotide variant (synonymous variant)	Microcephaly, epilepsy, and diabetes syndrome	GLikely benign
Select item 655282	NM_016097.5(IER3IP1):c.239T>G (p.Leu80Ter)	IER3IP1 (L80*)	Single nucleotide variant (nonsense)	Microcephaly, epilepsy, and diabetes syndrome	GUncertain significance
Select item 761692	NM_016097.5(IER3IP1):c.238T>C (p.Leu80=)	IER3IP1	Single nucleotide variant (synonymous variant)	Microcephaly, epilepsy, and diabetes syndrome	GLikely benign
Select item 2755452	NM_016097.5(IER3IP1):c.234T>C (p.Leu78=)	IER3IP1	Single nucleotide variant (synonymous variant)	Microcephaly, epilepsy, and diabetes syndrome	GLikely benign
Select item 30786	NM_016097.5(IER3IP1):c.233T>C (p.Leu78Pro)	IER3IP1 (L78P)	Single nucleotide variant (missense variant)	Microcephaly, epilepsy, and diabetes syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 1128970	NM_016097.5(IER3IP1):c.231A>G (p.Leu77=)	IER3IP1	Single nucleotide variant (synonymous variant)	Microcephaly, epilepsy, and diabetes syndrome	GLikely benign
Select item 1363704	NM_016097.5(IER3IP1):c.230T>A (p.Leu77Ter)	IER3IP1 (L77*)	Single nucleotide variant (nonsense)	Microcephaly, epilepsy, and diabetes syndrome	GUncertain significance
Select item 2878302	NM_016097.5(IER3IP1):c.226G>T (p.Val76Leu)	IER3IP1 (V76L)	Single nucleotide variant (missense variant)	Microcephaly, epilepsy, and diabetes syndrome	GUncertain significance
Select item 472569	NM_016097.5(IER3IP1):c.223A>G (p.Ile75Val)	IER3IP1 (I75V)	Single nucleotide variant (missense variant)	Microcephaly, epilepsy, and diabetes syndrome	GUncertain significance
Select item 956801	NM_016097.5(IER3IP1):c.221C>G (p.Ala74Gly)	IER3IP1 (A74G)	Single nucleotide variant (missense variant)	Microcephaly, epilepsy, and diabetes syndrome	GUncertain significance
Select item 1961759	NM_016097.5(IER3IP1):c.218T>C (p.Ile73Thr)	IER3IP1 (I73T)	Single nucleotide variant (missense variant)	Microcephaly, epilepsy, and diabetes syndrome	GUncertain significance
Select item 581459	NM_016097.5(IER3IP1):c.217A>G (p.Ile73Val)	IER3IP1 (I73V)	Single nucleotide variant (missense variant)	Microcephaly, epilepsy, and diabetes syndrome	GUncertain significance
Select item 539835	NM_016097.5(IER3IP1):c.215C>T (p.Ser72Leu)	IER3IP1 (S72L)	Single nucleotide variant (missense variant)	Microcephaly, epilepsy, and diabetes syndrome	GUncertain significance
Select item 2094338	NM_016097.5(IER3IP1):c.200T>C (p.Leu67Ser)	IER3IP1 (L67S)	Single nucleotide variant (missense variant)	Microcephaly, epilepsy, and diabetes syndrome	GUncertain significance
Select item 1350923	NM_016097.5(IER3IP1):c.199T>C (p.Leu67=)	IER3IP1	Single nucleotide variant (synonymous variant)	Microcephaly, epilepsy, and diabetes syndrome	GLikely benign
Select item 935161	NM_016097.5(IER3IP1):c.194-3C>T	IER3IP1	Single nucleotide variant (intron variant)	Microcephaly, epilepsy, and diabetes syndrome	GUncertain significance
Select item 2897614	NM_016097.5(IER3IP1):c.194-11dup	IER3IP1	Duplication (intron variant)	Microcephaly, epilepsy, and diabetes syndrome	GBenign
Select item 774068	NM_016097.5(IER3IP1):c.194-10C>T	IER3IP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1968186	NM_016097.5(IER3IP1):c.194-14_194-11del	IER3IP1	Deletion (intron variant)	Microcephaly, epilepsy, and diabetes syndrome	GLikely benign
Select item 1598829	NM_016097.5(IER3IP1):c.194-11del	IER3IP1	Deletion (intron variant)	Microcephaly, epilepsy, and diabetes syndrome	GBenign
Select item 2116492	NM_016097.5(IER3IP1):c.194-12T>C	IER3IP1	Single nucleotide variant (intron variant)	Microcephaly, epilepsy, and diabetes syndrome	GLikely benign
Select item 1216802	NM_016097.5(IER3IP1):c.194-257C>G	IER3IP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 668869	NM_016097.5(IER3IP1):c.194-288G>A	IER3IP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673716	NM_016097.5(IER3IP1):c.194-290C>A	IER3IP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 670552	NM_016097.5(IER3IP1):c.193+213T>G	IER3IP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265412	NM_016097.5(IER3IP1):c.193+147dup	IER3IP1	Duplication (intron variant)	not provided	GBenign
Select item 1242545	NM_016097.5(IER3IP1):c.193+162del	IER3IP1	Deletion (intron variant)	not provided	GBenign
Select item 1638194	NM_016097.5(IER3IP1):c.193+18T>C	IER3IP1	Single nucleotide variant (intron variant)	Microcephaly, epilepsy, and diabetes syndrome	GLikely benign
Select item 2127655	NM_016097.5(IER3IP1):c.193+17A>G	IER3IP1	Single nucleotide variant (intron variant)	Microcephaly, epilepsy, and diabetes syndrome	GLikely benign
Select item 1304519	NM_016097.5(IER3IP1):c.193G>A (p.Val65Met)	IER3IP1 (V65M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 939609	NM_016097.5(IER3IP1):c.191G>C (p.Arg64Thr)	IER3IP1 (R64T)	Single nucleotide variant (missense variant)	Microcephaly, epilepsy, and diabetes syndrome	GUncertain significance
Select item 948522	NM_016097.5(IER3IP1):c.188T>C (p.Met63Thr)	IER3IP1 (M63T)	Single nucleotide variant (missense variant)	Microcephaly, epilepsy, and diabetes syndrome	GUncertain significance
Select item 2772186	NM_016097.5(IER3IP1):c.186G>T (p.Val62=)	IER3IP1	Single nucleotide variant (synonymous variant)	Microcephaly, epilepsy, and diabetes syndrome	GLikely benign
Select item 751965	NM_016097.5(IER3IP1):c.183C>T (p.Thr61=)	IER3IP1	Single nucleotide variant (synonymous variant)	Microcephaly, epilepsy, and diabetes syndrome	GLikely benign
Select item 946494	NM_016097.5(IER3IP1):c.175G>C (p.Val59Leu)	IER3IP1 (V59L)	Single nucleotide variant (missense variant)	Microcephaly, epilepsy, and diabetes syndrome +1 more	GUncertain significance
Select item 834938	NM_016097.5(IER3IP1):c.175G>A (p.Val59Ile)	IER3IP1 (V59I)	Single nucleotide variant (missense variant)	Microcephaly, epilepsy, and diabetes syndrome	GUncertain significance
Select item 951671	NM_016097.5(IER3IP1):c.170G>T (p.Arg57Leu)	IER3IP1 (R57L)	Single nucleotide variant (missense variant)	Microcephaly, epilepsy, and diabetes syndrome +1 more	GUncertain significance
Select item 211178	NM_016097.5(IER3IP1):c.170G>A (p.Arg57Gln)	IER3IP1 (R57Q)	Single nucleotide variant (missense variant)	Microcephaly, epilepsy, and diabetes syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1137071	NM_016097.5(IER3IP1):c.165T>C (p.Leu55=)	IER3IP1	Single nucleotide variant (synonymous variant)	Microcephaly, epilepsy, and diabetes syndrome	GLikely benign
Select item 937203	NM_016097.5(IER3IP1):c.163C>T (p.Leu55Phe)	IER3IP1 (L55F)	Single nucleotide variant (missense variant)	Microcephaly, epilepsy, and diabetes syndrome	GUncertain significance
Select item 2154437	NM_016097.5(IER3IP1):c.162C>A (p.Asn54Lys)	IER3IP1 (N54K)	Single nucleotide variant (missense variant)	Microcephaly, epilepsy, and diabetes syndrome	GUncertain significance
Select item 1157383	NM_016097.5(IER3IP1):c.156A>G (p.Leu52=)	IER3IP1	Single nucleotide variant (synonymous variant)	Microcephaly, epilepsy, and diabetes syndrome	GLikely benign
Select item 796805	NM_016097.5(IER3IP1):c.150A>G (p.Ser50=)	IER3IP1	Single nucleotide variant (synonymous variant)	Microcephaly, epilepsy, and diabetes syndrome	GLikely benign
Select item 1044884	NM_016097.5(IER3IP1):c.149C>T (p.Ser50Leu)	IER3IP1 (S50L)	Single nucleotide variant (missense variant)	Microcephaly, epilepsy, and diabetes syndrome	GUncertain significance
Select item 435491	NM_016097.5(IER3IP1):c.147A>G (p.Lys49=)	IER3IP1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 784814	NM_016097.5(IER3IP1):c.141A>T (p.Gly47=)	IER3IP1	Single nucleotide variant (synonymous variant)	Microcephaly, epilepsy, and diabetes syndrome	GLikely benign
Select item 472568	NM_016097.5(IER3IP1):c.138G>A (p.Pro46=)	IER3IP1	Single nucleotide variant (synonymous variant)	Microcephaly, epilepsy, and diabetes syndrome	GLikely benign
Select item 1372794	NM_016097.5(IER3IP1):c.137C>T (p.Pro46Leu)	IER3IP1 (P46L)	Single nucleotide variant (missense variant)	Microcephaly, epilepsy, and diabetes syndrome +1 more	GUncertain significance
Select item 2068261	NM_016097.5(IER3IP1):c.136C>T (p.Pro46Ser)	IER3IP1 (P46S)	Single nucleotide variant (missense variant)	Microcephaly, epilepsy, and diabetes syndrome	GUncertain significance
Select item 2022440	NM_016097.5(IER3IP1):c.113_122del (p.Gly38fs)	IER3IP1 (G38fs)	Deletion (frameshift variant)	Microcephaly, epilepsy, and diabetes syndrome	GUncertain significance
Select item 1064048	NM_016097.5(IER3IP1):c.118G>A (p.Gly40Ser)	IER3IP1 (G40S)	Single nucleotide variant (missense variant)	Microcephaly, epilepsy, and diabetes syndrome	GUncertain significance
Select item 953363	NM_016097.5(IER3IP1):c.118G>T (p.Gly40Cys)	IER3IP1 (G40C)	Single nucleotide variant (missense variant)	Microcephaly, epilepsy, and diabetes syndrome	GUncertain significance
Select item 1392123	NM_016097.5(IER3IP1):c.116T>C (p.Ile39Thr)	IER3IP1 (I39T)	Single nucleotide variant (missense variant)	Microcephaly, epilepsy, and diabetes syndrome	GUncertain significance
Select item 1633643	NM_016097.5(IER3IP1):c.111G>A (p.Gln37=)	IER3IP1	Single nucleotide variant (synonymous variant)	Microcephaly, epilepsy, and diabetes syndrome	GLikely benign
Select item 972204	NM_016097.5(IER3IP1):c.110A>T (p.Gln37Leu)	IER3IP1 (Q37L)	Single nucleotide variant (missense variant)	Microcephaly, epilepsy, and diabetes syndrome	GUncertain significance
Select item 1550821	NM_016097.5(IER3IP1):c.108C>T (p.Asp36=)	IER3IP1	Single nucleotide variant (synonymous variant)	Microcephaly, epilepsy, and diabetes syndrome	GLikely benign
Select item 857870	NM_016097.5(IER3IP1):c.106G>C (p.Asp36His)	IER3IP1 (D36H)	Single nucleotide variant (missense variant)	Microcephaly, epilepsy, and diabetes syndrome	GUncertain significance
Select item 1160200	NM_016097.5(IER3IP1):c.92-5T>C	IER3IP1	Single nucleotide variant (intron variant)	Microcephaly, epilepsy, and diabetes syndrome	GLikely benign
Select item 1612481	NM_016097.5(IER3IP1):c.92-10_92-6del	IER3IP1	Deletion (intron variant)	Microcephaly, epilepsy, and diabetes syndrome	GLikely benign
Select item 759569	NM_016097.5(IER3IP1):c.92-10C>T	IER3IP1	Single nucleotide variant (intron variant)	Microcephaly, epilepsy, and diabetes syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 1649028	NM_016097.5(IER3IP1):c.92-17A>G	IER3IP1	Single nucleotide variant (intron variant)	Microcephaly, epilepsy, and diabetes syndrome	GLikely benign
Select item 1952961	NM_016097.5(IER3IP1):c.92-20C>G	IER3IP1	Single nucleotide variant (intron variant)	Microcephaly, epilepsy, and diabetes syndrome	GUncertain significance
Select item 1193079	NM_016097.5(IER3IP1):c.92-282C>T	IER3IP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 675460	NM_016097.5(IER3IP1):c.91+56T>G	IER3IP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2885389	NM_016097.5(IER3IP1):c.91+13_91+18del	IER3IP1	Deletion (intron variant)	Microcephaly, epilepsy, and diabetes syndrome	GLikely benign
Select item 2742835	NM_016097.5(IER3IP1):c.91+15G>T	IER3IP1	Single nucleotide variant (intron variant)	Microcephaly, epilepsy, and diabetes syndrome	GLikely benign
Select item 2798606	NM_016097.5(IER3IP1):c.91+10A>C	IER3IP1	Single nucleotide variant (intron variant)	Microcephaly, epilepsy, and diabetes syndrome	GLikely benign
Select item 2079381	NM_016097.5(IER3IP1):c.91+10A>T	IER3IP1	Single nucleotide variant (intron variant)	Microcephaly, epilepsy, and diabetes syndrome	GLikely benign
Select item 1546460	NM_016097.5(IER3IP1):c.91+8G>C	IER3IP1	Single nucleotide variant (intron variant)	Microcephaly, epilepsy, and diabetes syndrome	GLikely benign
Select item 793477	NM_016097.5(IER3IP1):c.91+7G>A	IER3IP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 853084	NM_016097.5(IER3IP1):c.90C>T (p.Asn30=)	IER3IP1	Single nucleotide variant (synonymous variant)	Microcephaly, epilepsy, and diabetes syndrome	GLikely benign
Select item 2722649	NM_016097.5(IER3IP1):c.87G>A (p.Lys29=)	IER3IP1	Single nucleotide variant (synonymous variant)	Microcephaly, epilepsy, and diabetes syndrome	GLikely benign
Select item 2852522	NM_016097.5(IER3IP1):c.84C>G (p.Leu28=)	IER3IP1	Single nucleotide variant (synonymous variant)	Microcephaly, epilepsy, and diabetes syndrome	GLikely benign
Select item 208459	NM_016097.5(IER3IP1):c.80del (p.Phe27fs)	IER3IP1 (F27fs)	Deletion (frameshift variant)	Microcephaly, epilepsy, and diabetes syndrome	GUncertain significance
Select item 1081453	NM_016097.5(IER3IP1):c.78A>T (p.Arg26=)	IER3IP1	Single nucleotide variant (synonymous variant)	Microcephaly, epilepsy, and diabetes syndrome	GLikely benign
Select item 1047582	NM_016097.5(IER3IP1):c.71A>C (p.Glu24Ala)	IER3IP1 (E24A)	Single nucleotide variant (missense variant)	Microcephaly, epilepsy, and diabetes syndrome	GUncertain significance
Select item 1423434	NM_016097.5(IER3IP1):c.69C>G (p.His23Gln)	IER3IP1 (H23Q)	Single nucleotide variant (missense variant)	Microcephaly, epilepsy, and diabetes syndrome	GUncertain significance
Select item 1162063	NM_016097.5(IER3IP1):c.66G>A (p.Leu22=)	IER3IP1	Single nucleotide variant (synonymous variant)	Microcephaly, epilepsy, and diabetes syndrome	GLikely benign
Select item 862753	NM_016097.5(IER3IP1):c.66del (p.His23fs)	IER3IP1 (H23fs)	Deletion (frameshift variant)	Microcephaly, epilepsy, and diabetes syndrome	GUncertain significance
Select item 744121	NM_016097.5(IER3IP1):c.63G>T (p.Val21=)	IER3IP1	Single nucleotide variant (synonymous variant)	Microcephaly, epilepsy, and diabetes syndrome	GLikely benign

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