GSEC[gene] - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 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 149257	GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3	ABCG4, ACAD8 +769 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 161071	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	ABCG4, ACAD8 +764 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
Select item 148379	GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3	LOC130006864, LOC130006865 +763 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 57503	GRCh38/hg38 11q23.3-25(chr11:118789765-134998513)x3	ABCG4, ACAD8 +635 more	Copy number gain	See cases	GPathogenic
Select item 545140	Single allele	ABCG4, ACAD8 +608 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 150032	GRCh38/hg38 11q23.3-25(chr11:119424297-135075271)x1	LOC130006995, LOC130006996 +551 more	Copy number loss	See cases	GPathogenic
Select item 57238	GRCh38/hg38 11q23.3-25(chr11:119433909-134998513)x1	LOC121832824, LOC124625855 +549 more	Copy number loss	See cases	GPathogenic
Select item 59777	GRCh38/hg38 11q23.3-25(chr11:120236432-135040246)x3	OR8G5, PANX3 +519 more	Copy number gain	See cases	GPathogenic
Select item 58924	GRCh38/hg38 11q23.3-25(chr11:120507265-134576266)x1	ACAD8, ACRV1 +488 more	Copy number loss	See cases	GPathogenic
Select item 149328	GRCh38/hg38 11q23.3-25(chr11:120515759-135075271)x1	ACAD8, ACRV1 +497 more	Copy number loss	See cases	GPathogenic
Select item 154016	GRCh38/hg38 11q24.1-25(chr11:121611476-135068576)x1	LOC126861375, LOC126861376 +444 more	Copy number loss	See cases	GPathogenic
Select item 150820	GRCh38/hg38 11q24.1-25(chr11:121689052-135075271)x1	ACAD8, ACRV1 +442 more	Copy number loss	See cases	GPathogenic
Select item 148952	GRCh38/hg38 11q24.1-25(chr11:121780459-135075271)x1	ACAD8, ACRV1 +440 more	Copy number loss	See cases	GPathogenic
Select item 154045	GRCh38/hg38 11q24.1-25(chr11:121806547-135068576)x1	ACAD8, ACRV1 +439 more	Copy number loss	See cases	GPathogenic
Select item 145308	GRCh38/hg38 11q24.1-25(chr11:123799938-134998526)x1	ACAD8, ACRV1 +368 more	Copy number loss	See cases	GPathogenic
Select item 149547	GRCh38/hg38 11q24.1-25(chr11:123963074-135075271)x1	ACAD8, ACRV1 +363 more	Copy number loss	See cases	GPathogenic
Select item 57206	GRCh38/hg38 11q24.2-25(chr11:124155723-134998513)x1	ACAD8, ACRV1 +353 more	Copy number loss	See cases	GPathogenic
Select item 145337	GRCh38/hg38 11q24.2-25(chr11:124205225-134998526)x1	ACAD8, ACRV1 +352 more	Copy number loss	See cases	GPathogenic
Select item 151164	GRCh38/hg38 11q24.2-25(chr11:124315025-134818116)x1	ACAD8, ACRV1 +343 more	Copy number loss	See cases	GPathogenic
Select item 149702	GRCh38/hg38 11q24.2-25(chr11:124940059-135075271)x1	LOC121392954, LOC121832822 +312 more	Copy number loss	See cases	GPathogenic
Select item 147420	GRCh38/hg38 11q24.2-25(chr11:125241472-134998513)x1	ACAD8, ACRV1 +299 more	Copy number loss	See cases	GPathogenic
Select item 57257	GRCh38/hg38 11q24.2-24.3(chr11:125891315-129072391)x1	ARHGAP32, CDON +116 more	Copy number loss	See cases	GPathogenic
Select item 149105	GRCh38/hg38 11q24.2-25(chr11:126046358-135075271)x1	ACAD8, ADAMTS15 +266 more	Copy number loss	See cases	GPathogenic
Select item 147401	GRCh38/hg38 11q24.2-25(chr11:126046358-134998513)x1	ACAD8, ADAMTS15 +265 more	Copy number loss	See cases	GPathogenic
Select item 150232	GRCh38/hg38 11q24.2-25(chr11:126199589-135075271)x1	LOC130007027, LOC130007028 +261 more	Copy number loss	See cases	GPathogenic
Select item 1176928	NM_014026.6(DCPS):c.637-6A>G	DCPS, GSEC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1879218	NM_014026.6(DCPS):c.670C>T (p.Arg224Cys)	GSEC, DCPS (R224C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 376909	NM_014026.6(DCPS):c.677G>A (p.Gly226Asp)	DCPS, GSEC (G226D +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 2534038	NM_014026.6(DCPS):c.691C>T (p.Arg231Cys)	DCPS, GSEC (R238C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1033250	NM_014026.6(DCPS):c.704C>T (p.Pro235Leu)	DCPS, GSEC (P242L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3080587	NM_014026.6(DCPS):c.715C>T (p.Pro239Ser)	DCPS, GSEC (P246S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 732989	NM_014026.6(DCPS):c.717G>A (p.Pro239=)	DCPS, GSEC	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2575318	NM_014026.6(DCPS):c.724A>G (p.Arg242Gly)	DCPS, GSEC (R242G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339725	NM_014026.6(DCPS):c.739_747+22del	DCPS, GSEC	Deletion (splice donor variant)	not specified	GUncertain significance
Select item 3383439	NM_014026.6(DCPS):c.745_747+1dup	DCPS, GSEC	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 3080588	NM_014026.6(DCPS):c.752C>T (p.Ala251Val)	DCPS, GSEC (A258V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 501414	NM_014026.6(DCPS):c.769C>T (p.Arg257Trp)	DCPS, GSEC (R257W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1033251	NM_014026.6(DCPS):c.791G>T (p.Arg264Leu)	DCPS, GSEC (R264L +1 more)	Single nucleotide variant (missense variant)	Al-Raqad syndrome	GUncertain significance
Select item 377334	NM_014026.6(DCPS):c.791G>A (p.Arg264Gln)	DCPS, GSEC (R264Q +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 3080589	NM_014026.6(DCPS):c.800T>G (p.Leu267Arg)	DCPS, GSEC (L267R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 749774	NM_014026.6(DCPS):c.804C>T (p.His268=)	DCPS, GSEC	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3271119	NM_014026.6(DCPS):c.844G>A (p.Ala282Thr)	DCPS, GSEC (A282T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 733947	NM_014026.6(DCPS):c.855C>T (p.Phe285=)	DCPS, GSEC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3080590	NM_014026.6(DCPS):c.856G>A (p.Glu286Lys)	DCPS, GSEC (E293K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2445957	NM_014026.6(DCPS):c.856G>T (p.Glu286Ter)	DCPS, GSEC (E286* +1 more)	Single nucleotide variant (nonsense)	Al-Raqad syndrome	GLikely pathogenic
Select item 2642534	NM_014026.6(DCPS):c.861C>T (p.Ala287=)	DCPS, GSEC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1677037	NM_014026.6(DCPS):c.865G>A (p.Gly289Ser)	DCPS, GSEC (G289S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782778	NM_014026.6(DCPS):c.868T>G (p.Ser290Ala)	DCPS, GSEC (S290A +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1337294	NM_014026.6(DCPS):c.880C>T (p.Arg294Trp)	DCPS, GSEC (R294W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271112	NM_014026.6(DCPS):c.884C>T (p.Ala295Val)	DCPS, GSEC (A295V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3026246	NM_014026.6(DCPS):c.897T>C (p.Ala299=)	DCPS, GSEC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 733666	NM_014026.6(DCPS):c.906C>T (p.Ile302=)	DCPS, GSEC	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 870490	NM_014026.6(DCPS):c.918G>C (p.Glu306Asp)	DCPS, GSEC (E306D +1 more)	Single nucleotide variant (missense variant)	Al-Raqad syndrome	GUncertain significance
Select item 3271114	NM_014026.6(DCPS):c.944G>T (p.Arg315Leu)	DCPS, GSEC (R315L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 372235	NM_014026.6(DCPS):c.947C>T (p.Thr316Met)	DCPS, GSEC (T316M +1 more)	Single nucleotide variant (missense variant)	Al-Raqad syndrome	GConflicting classifications of pathogenicity
Select item 733915	NM_014026.6(DCPS):c.954C>T (p.Thr318=)	DCPS, GSEC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 795094	NM_014026.6(DCPS):c.972C>T (p.Asp324=)	DCPS, GSEC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2662278	NM_014026.6(DCPS):c.979del (p.Leu327fs)	DCPS, GSEC (L327fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 718596	NM_014026.6(DCPS):c.977C>G (p.Pro326Arg)	DCPS, GSEC (P333R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 775095	NM_014026.6(DCPS):c.1013G>A (p.Ter338=)	DCPS, GSEC	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign

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Items: 65