ClinVar for Gene (Select 51124) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242804	NC_000018.9:g.(?_42281312)_(45423127_?)del	ARK2C, ARK2N +17 more	Deletion	not provided	GPathogenic
Select item 3063545	GRCh37/hg19 18q12.2-21.1(chr18:33793283-46823898)x1	ARK2C, ARK2N +29 more	Copy number loss	not specified	GPathogenic
Select item 2992557	NM_016097.5(IER3IP1):c.18C>T (p.Tyr6=)	IER3IP1	Single nucleotide variant (synonymous variant)	Microcephaly, epilepsy, and diabetes syndrome	GLikely benign
Select item 2897614	NM_016097.5(IER3IP1):c.194-11dup	IER3IP1	Duplication (intron variant)	Microcephaly, epilepsy, and diabetes syndrome	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 2878302	NM_016097.5(IER3IP1):c.226G>T (p.Val76Leu)	IER3IP1 (Q30K +1 more)	Single nucleotide variant (missense variant)	Microcephaly, epilepsy, and diabetes syndrome	GUncertain significance
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 2804367	NM_016097.5(IER3IP1):c.54C>T (p.Ala18=)	IER3IP1	Single nucleotide variant (synonymous 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 2772186	NM_016097.5(IER3IP1):c.186G>T (p.Val62=)	IER3IP1 (S43*)	Single nucleotide variant (nonsense +1 more)	Microcephaly, epilepsy, and diabetes syndrome	GLikely benign
Select item 2766854	NM_016097.5(IER3IP1):c.27G>A (p.Leu9=)	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 (K27R)	Single nucleotide variant (missense variant +1 more)	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 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 2165807	NM_016097.5(IER3IP1):c.34G>C (p.Ala12Pro)	IER3IP1 (A12P)	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 2127655	NM_016097.5(IER3IP1):c.193+17A>G	IER3IP1	Single nucleotide variant (intron variant)	Microcephaly, epilepsy, and diabetes syndrome	GLikely benign
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 2109263	NM_016097.5(IER3IP1):c.26T>C (p.Leu9Pro)	IER3IP1 (L9P)	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 (synonymous variant +1 more)	Microcephaly, epilepsy, and diabetes syndrome	GUncertain significance
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 2074802	NM_016097.5(IER3IP1):c.36C>T (p.Ala12=)	IER3IP1	Single nucleotide variant (synonymous variant)	Microcephaly, epilepsy, and diabetes syndrome	GLikely benign
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 1968186	NM_016097.5(IER3IP1):c.194-14_194-11del	IER3IP1	Deletion (intron variant)	Microcephaly, epilepsy, and diabetes syndrome	GLikely benign
Select item 1961759	NM_016097.5(IER3IP1):c.218T>C (p.Ile73Thr)	IER3IP1 (I73T)	Single nucleotide variant (synonymous variant +1 more)	Microcephaly, epilepsy, and diabetes syndrome	GUncertain significance
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 1929544	NM_016097.5(IER3IP1):c.13C>T (p.Leu5=)	IER3IP1	Single nucleotide variant (synonymous variant)	Microcephaly, epilepsy, and diabetes syndrome	GLikely benign
Select item 1703574	GRCh37/hg19 18p11.32-q23(chr18:1-78077248)	CABYR, CBLN2 +267 more	Copy number gain	Trisomy 18	GPathogenic
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 1638194	NM_016097.5(IER3IP1):c.193+18T>C	IER3IP1	Single nucleotide variant (intron variant)	Microcephaly, epilepsy, and diabetes syndrome	GLikely benign
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 1620082	NM_016097.5(IER3IP1):c.12C>T (p.Thr4=)	IER3IP1	Single nucleotide variant (synonymous variant)	Microcephaly, epilepsy, and diabetes syndrome	GLikely benign
Select item 1618836	NM_016097.5(IER3IP1):c.57C>T (p.Ile19=)	IER3IP1	Single nucleotide variant (synonymous 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 1598829	NM_016097.5(IER3IP1):c.194-11del	IER3IP1	Deletion (intron variant)	Microcephaly, epilepsy, and diabetes syndrome	GBenign
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 1546460	NM_016097.5(IER3IP1):c.91+8G>C	IER3IP1	Single nucleotide variant (intron variant)	Microcephaly, epilepsy, and diabetes syndrome	GLikely benign
Select item 1526597	GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	not specified	GPathogenic
Select item 1521215	NM_016097.5(IER3IP1):c.13C>G (p.Leu5Val)	IER3IP1 (L5V)	Single nucleotide variant (missense variant)	Microcephaly, epilepsy, and diabetes syndrome	GUncertain significance
Select item 1479752	NM_016097.5(IER3IP1):c.11C>G (p.Thr4Ser)	IER3IP1 (T4S)	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 1412018	NC_000018.9:g.(?_42281312)_(45423127_?)dup	ARK2C, ARK2N +17 more	Duplication	Vici syndrome +1 more	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 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 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 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 1337368	NM_016097.5(IER3IP1):c.-6A>G	IER3IP1, LOC130062441	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 1326872	Single allele	AKAIN1, LIPG +174 more	Deletion	Intellectual disability	GPathogenic
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 1287385	NM_016097.5(IER3IP1):c.-70G>T	IER3IP1, LOC130062441	Single nucleotide variant (5 prime UTR 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 1237306	NC_000018.10:g.47176587del	IER3IP1	Deletion	not provided	GBenign
Select item 1216802	NM_016097.5(IER3IP1):c.194-257C>G	IER3IP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193079	NM_016097.5(IER3IP1):c.92-282C>T	IER3IP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1189988	NC_000018.10:g.47176699A>G	IER3IP1	Single nucleotide variant	not provided	GLikely benign
Select item 1180529	GRCh37/hg19 18q11.2-23(chr18:23626739-78014976)x3	MAPRE2, TSHZ1 +176 more	Copy number gain	not provided	GPathogenic
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 1160200	NM_016097.5(IER3IP1):c.92-5T>C	IER3IP1	Single nucleotide variant (intron variant)	Microcephaly, epilepsy, and diabetes syndrome	GLikely benign
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 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 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 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 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 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 1051191	NM_016097.5(IER3IP1):c.30G>T (p.Gln10His)	IER3IP1 (Q10H)	Single nucleotide variant (missense variant)	Microcephaly, epilepsy, and diabetes syndrome 1 +1 more	GUncertain significance
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 1045977	NM_016097.5(IER3IP1):c.10A>G (p.Thr4Ala)	IER3IP1 (T4A)	Single nucleotide variant (missense variant)	Microcephaly, epilepsy, and diabetes syndrome	GUncertain significance
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 1039072	NM_016097.5(IER3IP1):c.2T>C (p.Met1Thr)	IER3IP1, LOC130062441 (M1T)	Single nucleotide variant (missense variant +1 more)	Microcephaly, epilepsy, and diabetes syndrome	GUncertain significance
Select item 1011719	NM_016097.5(IER3IP1):c.4G>T (p.Ala2Ser)	IER3IP1, LOC130062441 (A2S)	Single nucleotide variant (missense variant)	Microcephaly, epilepsy, and diabetes syndrome	GUncertain significance
Select item 1002327	NM_016097.5(IER3IP1):c.42C>G (p.Leu14=)	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 966641	NM_016097.5(IER3IP1):c.32C>T (p.Ala11Val)	IER3IP1 (A11V)	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 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 951671	NM_016097.5(IER3IP1):c.170G>T (p.Arg57Leu)	IER3IP1 (R57L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 946494	NM_016097.5(IER3IP1):c.175G>C (p.Val59Leu)	IER3IP1 (V59L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 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 935161	NM_016097.5(IER3IP1):c.194-3C>T	IER3IP1	Single nucleotide variant (intron variant)	Microcephaly, epilepsy, and diabetes syndrome	GUncertain significance
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 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 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 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 816014	GRCh37/hg19 18q11.2-21.2(chr18:20689919-49455212)x3	ACAA2, ANKRD29 +97 more	Copy number gain	not provided	GPathogenic
Select item 816011	GRCh37/hg19 18q12.3-21.1(chr18:41630585-45107905)x1	SLC14A2, EPG5 +16 more	Copy number loss	not provided	GPathogenic
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 793477	NM_016097.5(IER3IP1):c.91+7G>A	IER3IP1	Single nucleotide variant (intron variant)	not provided	GLikely 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 774068	NM_016097.5(IER3IP1):c.194-10C>T	IER3IP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 759569	NM_016097.5(IER3IP1):c.92-10C>T	IER3IP1	Single nucleotide variant (intron variant)	Microcephaly, epilepsy, and diabetes syndrome +1 more	GConflicting classifications of pathogenicity
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 751378	NM_016097.5(IER3IP1):c.33A>C (p.Ala11=)	IER3IP1	Single nucleotide variant (synonymous variant)	Microcephaly, epilepsy, and diabetes syndrome	GLikely benign
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
Select item 688160	GRCh37/hg19 18q21.1(chr18:44552637-44765469)x3	ELOA2, HDHD2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 687031	GRCh37/hg19 18q21.1(chr18:44619805-46854791)x3	CTIF, DYM +7 more	Copy number gain	not provided	GUncertain significance

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