3703[geneid] - ClinVar - NCBI

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	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 151354	GRCh38/hg38 11q23.3-24.2(chr11:120080142-125829106)x1	ACRV1, ARHGEF12 +255 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 147400	GRCh38/hg38 11q24.1-24.2(chr11:122182443-125957977)x1	ACRV1, BSX +166 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 1329747	NC_000011.10:g.125592720T>G	STT3A	Single nucleotide variant	not provided	GLikely benign
Select item 1318192	NC_000011.10:g.125592721T>A	STT3A	Single nucleotide variant	not provided	GLikely benign
Select item 1225504	NC_000011.10:g.125592730G>T	STT3A	Single nucleotide variant	not provided	GBenign
Select item 1317971	NC_000011.10:g.125592739A>G	STT3A	Single nucleotide variant	not provided	GLikely benign
Select item 1243559	NC_000011.10:g.125592740C>T	STT3A	Single nucleotide variant	not provided	GBenign
Select item 1275875	NC_000011.10:g.125592747G>A	STT3A	Single nucleotide variant	not provided	GBenign
Select item 387269	NM_152713.5(STT3A):c.-36+17A>G	STT3A	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 385431	NM_152713.5(STT3A):c.-36+815T>G	STT3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 390889	NM_152713.5(STT3A):c.-36+817C>G	STT3A	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1292244	NM_152713.5(STT3A):c.-36+938TGT[3]	STT3A	Microsatellite (intron variant)	not provided	GBenign
Select item 1283051	NM_152713.5(STT3A):c.-35-191C>T	STT3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258070	NM_152713.5(STT3A):c.-35-124C>T	STT3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 385817	NM_152713.5(STT3A):c.-34T>C	STT3A	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 794312	NM_152713.5(STT3A):c.48A>T (p.Thr16=)	STT3A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 380012	NM_152713.5(STT3A):c.52T>C (p.Leu18=)	STT3A	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 2265151	NM_152713.5(STT3A):c.65T>C (p.Ile22Thr)	STT3A (I22T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3323444	NM_152713.5(STT3A):c.68T>C (p.Leu23Pro)	STT3A (L23P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1120816	NM_152713.5(STT3A):c.81T>C (p.Ala27=)	STT3A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1011032	NM_152713.5(STT3A):c.83T>C (p.Val28Ala)	STT3A (V28A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 380013	NM_152713.5(STT3A):c.88+7G>T	STT3A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1292105	NM_152713.5(STT3A):c.88+103A>G	STT3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244774	NM_152713.5(STT3A):c.88+112T>G	STT3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244349	NM_152713.5(STT3A):c.89-278G>T	STT3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 748695	NM_152713.5(STT3A):c.89-10G>A	STT3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3019551	NM_152713.5(STT3A):c.105G>A (p.Leu35=)	STT3A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 745981	NM_152713.5(STT3A):c.135C>T (p.Ile45=)	STT3A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1334778	NM_152713.5(STT3A):c.137A>G (p.His46Arg)	STT3A (H46R)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation, type Iw, autosomal dominant	GLikely pathogenic
Select item 1454805	NM_152713.5(STT3A):c.149+16T>C	STT3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2415505	NM_152713.5(STT3A):c.149+19T>G	STT3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 387990	NM_152713.5(STT3A):c.149+20C>T	STT3A	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1246556	NM_152713.5(STT3A):c.149+130C>A	STT3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228190	NM_152713.5(STT3A):c.149+318dup	STT3A	Duplication (intron variant)	not provided	GBenign
Select item 1259863	NM_152713.5(STT3A):c.150-156G>C	STT3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292108	NM_152713.5(STT3A):c.150-137T>C	STT3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2468361	NM_152713.5(STT3A):c.164G>A (p.Arg55Gln)	STT3A (R55Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 383002	NM_152713.5(STT3A):c.177C>T (p.Phe59=)	STT3A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1434267	NM_152713.5(STT3A):c.184G>A (p.Glu62Lys)	STT3A (E62K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3171691	NM_152713.5(STT3A):c.191G>T (p.Gly64Val)	STT3A (G64V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1088647	NM_152713.5(STT3A):c.210C>T (p.Asn70=)	STT3A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2303539	NM_152713.5(STT3A):c.244C>G (p.Arg82Gly)	STT3A (R82G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 715779	NM_152713.5(STT3A):c.246A>C (p.Arg82=)	STT3A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1895409	NM_152713.5(STT3A):c.251T>C (p.Ile84Thr)	STT3A (I84T)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation, type Iw, autosomal dominant	GLikely pathogenic
Select item 389181	NM_152713.5(STT3A):c.271+8G>T	STT3A	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1562033	NM_152713.5(STT3A):c.271+29dup	STT3A	Duplication (intron variant)	not provided	GBenign
Select item 2098371	NM_152713.5(STT3A):c.271+19T>C	STT3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1227857	NM_152713.5(STT3A):c.271+28T>A	STT3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316158	NM_152713.5(STT3A):c.271+39dup	STT3A	Duplication (intron variant)	not provided	GLikely benign
Select item 1259748	NM_152713.5(STT3A):c.271+29T>A	STT3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1318087	NM_152713.5(STT3A):c.271+30A>T	STT3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1174302	NM_152713.5(STT3A):c.271+123C>T	STT3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271954	NM_152713.5(STT3A):c.272-155G>A	STT3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223024	NM_152713.5(STT3A):c.272-82T>C	STT3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3171694	NM_152713.5(STT3A):c.280A>G (p.Ile94Val)	STT3A (I2V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1654129	NM_152713.5(STT3A):c.387C>T (p.Ile129=)	STT3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2489838	NM_152713.5(STT3A):c.388G>A (p.Val130Ile)	STT3A (V130I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1027877	NM_152713.5(STT3A):c.415A>C (p.Lys139Gln)	STT3A (K139Q +1 more)	Single nucleotide variant (missense variant)	STT3A-congenital disorder of glycosylation	GUncertain significance
Select item 1257216	NM_152713.5(STT3A):c.418-288A>G	STT3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292113	NM_152713.5(STT3A):c.418-56G>A	STT3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 771180	NM_152713.5(STT3A):c.418-7C>T	STT3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2482966	NM_152713.5(STT3A):c.448A>G (p.Met150Val)	STT3A (M58V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1334779	NM_152713.5(STT3A):c.479G>A (p.Arg160Gln)	STT3A (R160Q +1 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type Iw, autosomal dominant	GLikely pathogenic
Select item 1229321	NM_152713.5(STT3A):c.508+164T>C	STT3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258360	NM_152713.5(STT3A):c.508+190T>C	STT3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222436	NM_152713.5(STT3A):c.508+206T>C	STT3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316682	NM_152713.5(STT3A):c.509-215T>C	STT3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1183847	NM_152713.5(STT3A):c.509-180T>A	STT3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1706696	NM_152713.5(STT3A):c.509-169G>A	STT3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1179408	NM_152713.5(STT3A):c.509-84C>G	STT3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178671	NM_152713.5(STT3A):c.509-81G>A	STT3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 384045	NM_152713.5(STT3A):c.509-15G>T	STT3A	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 3065465	NM_152713.5(STT3A):c.544A>G (p.Met182Val)	STT3A (M182V +1 more)	Single nucleotide variant (missense variant)	STT3A-congenital disorder of glycosylation	GUncertain significance
Select item 1414073	NM_152713.5(STT3A):c.615+6T>C	STT3A	Single nucleotide variant (intron variant)	not provided	GUncertain significance

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