ClinVar for Gene (Select 51399) - ClinVar

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Items: 95

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3378415	NM_016146.6(TRAPPC4):c.23_24del (p.Val8fs)	TRAPPC4 (V8fs)	Microsatellite (5 prime UTR variant +1 more)	Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy	GLikely pathogenic
Select item 3363373	NM_016146.6(TRAPPC4):c.484A>T (p.Arg162Trp)	TRAPPC4 (R108W +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3363372	NM_016146.6(TRAPPC4):c.296G>T (p.Gly99Val)	TRAPPC4 (A28S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3360528	NM_016146.6(TRAPPC4):c.449dup (p.Thr151fs)	TRAPPC4 (T108fs +3 more)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 3328536	NM_016146.6(TRAPPC4):c.472C>G (p.Leu158Val)	TRAPPC4 (L115V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3328535	NM_016146.6(TRAPPC4):c.299G>T (p.Arg100Leu)	TRAPPC4 (G29C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3328534	NM_016146.6(TRAPPC4):c.577A>G (p.Ile193Val)	TRAPPC4 (I193V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244710	NC_000011.9:g.(?_118007742)_(119170491_?)del	ABCG4, ARCN1 +36 more	Deletion	not provided	GPathogenic
Select item 3244705	NC_000011.9:g.(?_118007742)_(119170491_?)dup	ABCG4, ARCN1 +36 more	Duplication	Atrial fibrillation, familial, 14	GUncertain significance
Select item 3182001	NM_016146.6(TRAPPC4):c.98G>C (p.Ser33Thr)	TRAPPC4 (S33T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3181999	NM_016146.6(TRAPPC4):c.16G>A (p.Val6Met)	TRAPPC4 (V6M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3181998	NM_016146.6(TRAPPC4):c.110A>G (p.Asp37Gly)	TRAPPC4 (D37G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3148862	GRCh37/hg19 11q23.3-25(chr11:116683755-134937416)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 3056862	NM_016146.6(TRAPPC4):c.175+8A>G	TRAPPC4	Single nucleotide variant (intron variant)	TRAPPC4-related disorder	GLikely benign
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2642449	NM_016146.6(TRAPPC4):c.582-8C>T	TRAPPC4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2580934	NM_016146.6(TRAPPC4):c.374T>C (p.Leu125Pro)	TRAPPC4 (L125P +2 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy	GLikely pathogenic
Select item 2534882	NM_016146.6(TRAPPC4):c.194C>T (p.Ala65Val)	TRAPPC4 (A65V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2529576	NM_016146.6(TRAPPC4):c.226A>G (p.Thr76Ala)	TRAPPC4 (T76A)	Single nucleotide variant (synonymous variant +3 more)	not specified	GUncertain significance
Select item 2510294	NM_016146.6(TRAPPC4):c.505C>T (p.Leu169Phe)	TRAPPC4 (L115F +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492625	NM_016146.6(TRAPPC4):c.496A>G (p.Ile166Val)	TRAPPC4 (I61V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2437255	NM_016146.6(TRAPPC4):c.64T>C (p.Tyr22His)	TRAPPC4 (Y22H)	Single nucleotide variant (5 prime UTR variant +1 more)	Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy	GUncertain significance
Select item 2437254	NM_016146.6(TRAPPC4):c.260G>A (p.Gly87Asp)	TRAPPC4 (G87D +1 more)	Single nucleotide variant (missense variant +2 more)	Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy	GUncertain significance
Select item 2422557	NC_000011.9:g.(?_117209303)_(120133495_?)dup	ABCG4, ARCN1 +54 more	Duplication	not provided	GUncertain significance
Select item 2422303	NC_000011.9:g.(?_116691583)_(121500272_?)dup	ABCG4, APOA1 +72 more	Duplication	Immunodeficiency 19 +5 more	GUncertain significance
Select item 2323996	NM_016146.6(TRAPPC4):c.497T>C (p.Ile166Thr)	TRAPPC4 (I112T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316119	NM_016146.6(TRAPPC4):c.7A>G (p.Ile3Val)	TRAPPC4 (I3V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2307656	NM_016146.6(TRAPPC4):c.207G>A (p.Met69Ile)	TRAPPC4 (M69I)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2267619	NM_016146.6(TRAPPC4):c.10T>G (p.Phe4Val)	TRAPPC4 (F4V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2217617	NM_016146.6(TRAPPC4):c.299G>C (p.Arg100Pro)	TRAPPC4 (G29R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2211184	NM_016146.6(TRAPPC4):c.634G>T (p.Ala212Ser)	TRAPPC4 (A174S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1410294	NC_000011.9:g.(?_116660844)_(121500272_?)dup	RNF26, TAGLN +73 more	Duplication	not provided	GUncertain significance
Select item 1342354	NM_016146.6(TRAPPC4):c.176-3C>T	TRAPPC4	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy	GUncertain significance
Select item 1341168	GRCh37/hg19 11q23.1-24.3(chr11:112375478-128785742)x3	ABCG4, ACRV1 +172 more	Copy number gain	not provided	GPathogenic
Select item 1340179	GRCh37/hg19 11q23.3(chr11:118849155-119067781)x3	ABCG4, C2CD2L +14 more	Copy number gain	not provided	GUncertain significance
Select item 1289468	NM_016146.6(TRAPPC4):c.350+58C>T	TRAPPC4	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1289193	NM_016146.6(TRAPPC4):c.455-193C>T	TRAPPC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288731	NM_016146.6(TRAPPC4):c.454+225G>T	TRAPPC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287119	NM_016146.6(TRAPPC4):c.351-58C>A	TRAPPC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282698	NM_016146.6(TRAPPC4):c.176-31C>G	TRAPPC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275542	NM_016146.6(TRAPPC4):c.345C>T (p.Phe115=)	TRAPPC4 (S44F)	Single nucleotide variant (missense variant +3 more)	not provided	GBenign
Select item 1275512	NM_016146.6(TRAPPC4):c.581+163A>C	TRAPPC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270573	NC_000011.10:g.119018422A>G	TRAPPC4	Single nucleotide variant	not provided	GBenign
Select item 1268080	NM_016146.6(TRAPPC4):c.582-31A>G	TRAPPC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267945	NC_000011.10:g.119018404A>G	TRAPPC4	Single nucleotide variant	not provided	GBenign
Select item 1264702	NC_000011.10:g.119018363G>T	LOC130006882, TRAPPC4	Single nucleotide variant	not provided	GBenign
Select item 1263994	NM_016146.6(TRAPPC4):c.399C>T (p.Gly133=)	TRAPPC4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1262997	NM_016146.6(TRAPPC4):c.581+161C>G	TRAPPC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253547	NM_016146.6(TRAPPC4):c.176-40C>G	TRAPPC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250697	NC_000011.10:g.119018688_119018689insAAG	TRAPPC4	Insertion	not provided	GBenign
Select item 1247282	NC_000011.10:g.119018318G>A	LOC130006882, RPS25 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1244899	NM_016146.6(TRAPPC4):c.300G>A (p.Arg100=)	TRAPPC4 (G29D)	Single nucleotide variant (missense variant +3 more)	not provided	GBenign
Select item 1243529	NM_016146.6(TRAPPC4):c.582-153T>C	TRAPPC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240845	NC_000011.10:g.119018668G>A	TRAPPC4	Single nucleotide variant	not provided	GBenign
Select item 1238350	NM_016146.6(TRAPPC4):c.350+129T>C	TRAPPC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237792	NC_000011.10:g.119018306G>A	LOC130006882, RPS25 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1236244	NC_000011.10:g.119018537_119018538insG	TRAPPC4	Insertion	not provided	GBenign
Select item 1229053	NM_016146.6(TRAPPC4):c.454+176_454+178del	TRAPPC4	Deletion (intron variant)	not provided	GBenign
Select item 1228895	NM_016146.6(TRAPPC4):c.*178A>G	TRAPPC4	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1226681	NC_000011.10:g.119018475T>C	TRAPPC4	Single nucleotide variant	not provided	GBenign
Select item 1226476	NC_000011.10:g.119018691_119018692insAAGGAG	TRAPPC4	Insertion	not provided	GBenign
Select item 1182463	NM_016146.6(TRAPPC4):c.176-43C>T	TRAPPC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180859	NM_016146.6(TRAPPC4):c.*118G>C	TRAPPC4	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1172587	NM_016146.6(TRAPPC4):c.278C>T (p.Pro93Leu)	TRAPPC4 (P93L +1 more)	Single nucleotide variant (missense variant +2 more)	Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy	GUncertain significance
Select item 1007237	NC_000011.9:g.(?_117856768)_(118972385_?)dup	ARCN1, ATP5MG +31 more	Duplication	Inflammatory bowel disease 28 +4 more	GUncertain significance
Select item 996553	NM_016146.6(TRAPPC4):c.191T>C (p.Leu64Pro)	TRAPPC4 (L64P)	Single nucleotide variant (5 prime UTR variant +2 more)	Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy	GUncertain significance
Select item 973579	NC_000011.9:g.104288964_134937416dup	VSIG2, VWA5A +259 more	Duplication	Distal trisomy 11q	GPathogenic
Select item 916549	NM_016146.6(TRAPPC4):c.638_*4del (p.Gly213_Ter220delinsXaa)	TRAPPC4	Deletion (stop lost)	Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy	GLikely pathogenic
Select item 831101	NC_000011.9:g.(?_117856768)_(118972385_?)del	ARCN1, ATP5MG +31 more	Deletion	Combined immunodeficiency due to CD3gamma deficiency +3 more	GPathogenic
Select item 815474	GRCh37/hg19 11q23.3(chr11:118280670-119650105)x3	ABCG4, ARCN1 +33 more	Copy number gain	not provided	GUncertain significance
Select item 812956	Single allele	APLP2, LINC02873 +169 more	Deletion	Anemia +7 more	GLikely pathogenic
Select item 812649	NM_016146.6(TRAPPC4):c.454+3A>G	TRAPPC4	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy +2 more	GPathogenic/Likely pathogenic
Select item 687452	GRCh37/hg19 11q23.3-25(chr11:117830263-134938470)x3	CD3G, CDON +160 more	Copy number gain	not provided	GPathogenic
Select item 659604	NC_000011.9:g.(?_118007722)_(119170511_?)del	DDX6, DPAGT1 +36 more	Deletion	Long QT syndrome 10	GUncertain significance
Select item 625808	GRCh37/hg19 11q23.3-25(chr11:116700253-134904063)	BACE1, BACE1-AS +176 more	Copy number gain	not provided	GPathogenic
Select item 625659	GRCh37/hg19 11q23.3-25(chr11:116691675-134889485)	ARHGAP32, ARHGEF12 +177 more	Copy number gain	not provided	GPathogenic
Select item 563884	GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 563876	GRCh37/hg19 11q23.3(chr11:116669751-120979377)x3	ABCG4, APOA1 +70 more	Copy number gain	not provided	GLikely pathogenic
Select item 545140	Single allele	ABCG4, ACAD8 +608 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441664	GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3	ABCG4, ACAD8 +177 more	Copy number gain	See cases	GPathogenic
Select item 253520	GRCh37/hg19 11q23.3(chr11:115215434-120559928)x3	ABCG4, APOA1 +72 more	Copy number gain	See cases	GPathogenic
Select item 161071	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 150522	GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3	LOC130007002, LOC130007003 +499 more	Copy number gain	See cases	GPathogenic
Select item 149257	GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3	ABCG4, ACAD8 +769 more	Copy number gain	See cases	GPathogenic
Select item 148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	BCL9L, BLID +774 more	Copy number gain	See cases	GPathogenic
Select item 148415	GRCh38/hg38 11q23.3(chr11:118933083-119215291)x3	ABCG4, C2CD2L +40 more	Copy number gain	See cases	GLikely benign
Select item 148379	GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3	LOC130006864, LOC130006865 +763 more	Copy number gain	See cases	GPathogenic
Select item 144588	GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 57503	GRCh38/hg38 11q23.3-25(chr11:118789765-134998513)x3	ABCG4, ACAD8 +635 more	Copy number gain	See cases	GPathogenic
Select item 57036	GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3	LOC130006895, LOC130006896 +355 more	Copy number gain	See cases	GPathogenic
Select item 33553	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	LOC128772366, LOC128772367 +764 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 95