IGSF5[gene] - ClinVar

Search results

Items: 98

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160886	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LOC130066574, LOC130066575 +1159 more	Copy number gain	See cases	GPathogenic
Select item 155309	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC130066796, LOC130066797 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155093	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155053	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC130066513, LOC130066514 +1160 more	Copy number gain	See cases	GPathogenic
Select item 153438	GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3	LOC126653326, LOC126653327 +1160 more	Copy number gain	See cases	GUncertain significance
Select item 152839	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3	LOC130066833, LOC130066834 +1160 more	Copy number gain	See cases	GPathogenic
Select item 151388	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3	CBR1-AS1, CBR3 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149418	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC130066700, LOC130066701 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149160	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC130066665, LOC130066666 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148262	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC126653316, LOC126653317 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148180	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 146125	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	LOC130066758, LOC130066759 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145474	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LOC130066436, LOC130066437 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145468	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145332	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145107	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3	KRTAP13-3, KRTAP13-4 +1157 more	Copy number gain	See cases	GPathogenic
Select item 144677	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 144194	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3	ABCG1, ADAMTS1 +884 more	Copy number gain	See cases	GPathogenic
Select item 59247	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	AATBC, MIR6814 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59246	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LOC130066541, LOC130066542 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59245	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59224	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	AATBC, ABCG1 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59223	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066593, LOC130066594 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59222	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59221	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066830, LOC130066831 +1155 more	Copy number gain	See cases	GPathogenic
Select item 32099	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 154360	GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	LOC129391220, LOC129391221 +1156 more	Copy number loss	See cases	GPathogenic
Select item 147667	GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1	LOC130066733, LOC130066734 +643 more	Copy number loss	See cases	GPathogenic
Select item 146086	GRCh38/hg38 21q22.12-22.2(chr21:35543872-39993338)x1	LOC130066625, LOC130066626 +177 more	Copy number loss	See cases	GPathogenic
Select item 149106	GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3	AATBC, ABCG1 +598 more	Copy number gain	See cases	GPathogenic
Select item 145644	GRCh38/hg38 21q22.12-22.3(chr21:36206067-46670405)x3	AATBC, ABCG1 +586 more	Copy number gain	See cases	GPathogenic
Select item 146921	GRCh38/hg38 21q22.13-22.3(chr21:36519173-46670405)x3	LOC130066879, LOC130066880 +568 more	Copy number gain	See cases	GPathogenic
Select item 57360	GRCh38/hg38 21q22.13-22.3(chr21:37135738-42434515)x1	LOC108281150, LOC110121385 +224 more	Copy number loss	See cases	GPathogenic
Select item 149036	GRCh38/hg38 21q22.13-22.3(chr21:37669628-46671060)x1	AGPAT3, AIRE +516 more	Copy number loss	See cases	GPathogenic
Select item 154214	GRCh38/hg38 21q22.2-22.3(chr21:38816399-46677460)x1	LOC130066848, LOC130066849 +482 more	Copy number loss	See cases	GPathogenic
Select item 545244	NC_000021.9:g.(?_38981673)_(41568791_?)del	B3GALT5, B3GALT5-AS1 +85 more	Deletion	Autism	GLikely pathogenic
Select item 154583	GRCh38/hg38 21q22.2-22.3(chr21:39375937-44246148)x1	AATBC, ABCG1 +268 more	Copy number loss	See cases	GPathogenic
Select item 2552627	NM_001080444.2(IGSF5):c.134C>A (p.Pro45His)	IGSF5 (P45H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221822	NM_001080444.2(IGSF5):c.170G>A (p.Arg57His)	IGSF5 (R57H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288739	NM_001080444.2(IGSF5):c.188C>T (p.Ser63Phe)	IGSF5 (S63F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362625	NM_001080444.2(IGSF5):c.205A>C (p.Ile69Leu)	IGSF5 (I69L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210207	NM_001080444.2(IGSF5):c.274C>T (p.Arg92Cys)	IGSF5 (R92C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362626	NM_001080444.2(IGSF5):c.328A>T (p.Ile110Phe)	IGSF5 (I110F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244972	NM_001080444.2(IGSF5):c.332A>G (p.His111Arg)	IGSF5 (H111R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287377	NM_001080444.2(IGSF5):c.337G>A (p.Val113Met)	IGSF5 (V113M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261669	NM_001080444.2(IGSF5):c.401C>T (p.Ala134Val)	IGSF5 (A134V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251060	NM_001080444.2(IGSF5):c.406C>G (p.Leu136Val)	IGSF5 (L136V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264498	NM_001080444.2(IGSF5):c.460G>A (p.Ala154Thr)	IGSF5 (A154T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2527141	NM_001080444.2(IGSF5):c.646G>A (p.Val216Met)	IGSF5 (V216M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224038	NM_001080444.2(IGSF5):c.653C>T (p.Thr218Ile)	IGSF5 (T218I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232055	NM_001080444.2(IGSF5):c.746G>A (p.Gly249Asp)	IGSF5, LOC126653374 (G249D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569066	NM_001080444.2(IGSF5):c.764C>T (p.Pro255Leu)	IGSF5, LOC126653374 (P255L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344924	NM_001080444.2(IGSF5):c.833C>T (p.Thr278Met)	IGSF5, LOC126653374 (T278M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1601532	NM_001080444.2(IGSF5):c.834G>A (p.Thr278=)	IGSF5, LOC126653374	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2382263	NM_001080444.2(IGSF5):c.839C>T (p.Thr280Met)	IGSF5, LOC126653374 (T280M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2652668	NM_001080444.2(IGSF5):c.859TGC[6] (p.Cys290_Arg291insCysCys)	IGSF5, LOC126653374	Microsatellite (inframe_insertion)	not provided	GLikely benign
Select item 2334434	NM_001080444.2(IGSF5):c.875G>A (p.Arg292His)	IGSF5, LOC126653374 (R292H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263056	NM_001080444.2(IGSF5):c.1033G>C (p.Glu345Gln)	IGSF5 (E345Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512754	NM_001080444.2(IGSF5):c.1067C>T (p.Pro356Leu)	IGSF5 (P356L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511688	NM_001080444.2(IGSF5):c.1129C>T (p.Arg377Trp)	IGSF5 (R377W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062431	GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not specified	GPathogenic
Select item 3062429	GRCh37/hg19 21q22.11-22.3(chr21:34092685-48097372)x3	CBR1, CBR3 +139 more	Copy number gain	not specified	GPathogenic
Select item 3062428	GRCh37/hg19 21q22.12-22.3(chr21:35872675-48097372)x1	KCNJ15, KCNJ6 +118 more	Copy number loss	not specified	GPathogenic
Select item 3062423	GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3	COL6A1, COL6A2 +201 more	Copy number gain	not specified	GPathogenic
Select item 3062420	GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3	CBS, ITGB2 +186 more	Copy number gain	not specified	GPathogenic
Select item 2685664	GRCh37/hg19 21q22.2-22.3(chr21:40681179-48097372)x1	ABCG1, ADARB1 +92 more	Copy number loss	not provided	GPathogenic
Select item 2684916	GRCh37/hg19 21q22.2-22.3(chr21:40965330-43116823)x3	B3GALT5, BACE2 +8 more	Copy number gain	not provided	GUncertain significance
Select item 2684914	GRCh37/hg19 21q22.11-22.3(chr21:33015681-48097372)x3	ABCG1, ADARB1 +148 more	Copy number gain	not provided	GPathogenic
Select item 2684910	GRCh37/hg19 21q11.2-22.3(chr21:15006458-45674637)x3	ABCG1, ADAMTS1 +170 more	Copy number gain	not provided	GPathogenic
Select item 1809302	GRCh37/hg19 21q22.2(chr21:41092465-41389416)x3	DSCAM, IGSF5 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1807628	GRCh37/hg19 21q22.2(chr21:40219284-41569839)x3	B3GALT5, BRWD1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 1705932	GRCh37/hg19 21q11.2-22.3(chr21:14420615-48080926)x3	DOP1B, DSCAM +217 more	Copy number gain	Complete trisomy 21 syndrome	GPathogenic
Select item 1526706	GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)	FAM3B, FTCD +216 more	Copy number gain	not specified	GPathogenic
Select item 1526705	GRCh37/hg19 21q11.2-22.3(chr21:15041209-48097372)	KRTAP13-1, KRTAP13-2 +216 more	Copy number gain	not specified	GPathogenic
Select item 1341200	GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	not provided	GPathogenic
Select item 1321998	GRCh37/hg19 21p13-q22.3(chr21:1-48129895)x3	ABCG1, ADAMTS1 +220 more	Copy number gain	See cases	GPathogenic
Select item 983157	GRCh37/hg19 21q11.2-22.3(chr21:14629063-48090317)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	See cases	GPathogenic
Select item 816169	GRCh37/hg19 21q22.2(chr21:40868988-41402607)x4	PCP4, B3GALT5 +3 more	Copy number gain	not provided	GLikely benign
Select item 816166	GRCh37/hg19 21q22.13-22.3(chr21:39410438-45171756)x1	CRYAA, GET1 +44 more	Copy number loss	not provided	GPathogenic
Select item 689182	GRCh37/hg19 21q22.2(chr21:40726882-41265009)x3	B3GALT5, GET1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 689181	GRCh37/hg19 21q22.2(chr21:40726882-41265009)x3	B3GALT5, GET1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 686229	GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	not provided	GPathogenic
Select item 564677	GRCh37/hg19 21q22.11-22.2(chr21:33980213-42542987)x3	ATP5PO, B3GALT5 +56 more	Copy number gain	not provided	GPathogenic
Select item 564668	GRCh37/hg19 21q22.2(chr21:40039202-41278694)x1	LCA5L, SH3BGR +9 more	Copy number loss	not provided	GUncertain significance
Select item 443979	GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372)	ABCG1, ADAMTS1 +217 more	Copy number gain	See cases	GPathogenic
Select item 443778	GRCh37/hg19 21q22.13-22.3(chr21:37914123-48097372)x1	ABCG1, ADARB1 +108 more	Copy number loss	See cases	GPathogenic
Select item 443777	GRCh37/hg19 21q22.12-22.2(chr21:36183329-42311538)x3	B3GALT5, BRWD1 +30 more	Copy number gain	See cases	GLikely pathogenic
Select item 443002	GRCh37/hg19 21q22.13-22.3(chr21:38699545-48097372)x1	ABCG1, ADARB1 +101 more	Copy number loss	See cases	GPathogenic
Select item 395335	GRCh37/hg19 21q22.13-22.2(chr21:38176362-41901945)x1	B3GALT5, BRWD1 +21 more	Copy number loss	See cases	GPathogenic
Select item 394309	GRCh37/hg19 21q11.2-22.3(chr21:14771770-48080867)x3	SPATC1L, SUMO3 +217 more	Copy number gain	See cases	GPathogenic
Select item 394099	GRCh37/hg19 21q22.13-22.3(chr21:38790552-43619940)x1	ABCG1, B3GALT5 +28 more	Copy number loss	See cases	GPathogenic
Select item 253826	GRCh37/hg19 21q22.2(chr21:40802860-41301131)x3	B3GALT5, LCA5L +3 more	Copy number gain	See cases	GUncertain significance
Select item 253512	GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1	ABCG1, ADAMTS1 +216 more	Copy number loss	See cases	GPathogenic
Select item 253477	GRCh37/hg19 21q22.2-22.3(chr21:39841248-44652723)x3	PKNOX1, TMPRSS3 +37 more	Copy number gain	See cases	GPathogenic
Select item 253403	GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	See cases	GPathogenic
Select item 204003	GRCh37/hg19 21q22.13-22.2(chr21:37839410..41427526)	ERG, ETS2 +23 more	Copy number loss	DYRK1A-related intellectual disability syndrome	GPathogenic
Select item 59013	GRCh37/hg19 21q22.1-22.3(chr21:35527952-44298520)x1	ABCG1, B3GALT5 +56 more	Copy number loss	See cases	GPathogenic

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Items: 98