INSL5[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	ACADM, ACOT11 +570 more	Copy number gain	See cases	GPathogenic
Select item 153325	GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3	ACOT11, AK4 +422 more	Copy number gain	See cases	GLikely pathogenic
Select item 59970	GRCh38/hg38 1p32.2-31.1(chr1:57350574-71325924)x1	LOC111501769, LOC112590812 +339 more	Copy number loss	See cases	GPathogenic
Select item 147765	GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1	MIGA1, MIR101-1 +558 more	Copy number loss	See cases	GPathogenic
Select item 144714	GRCh38/hg38 1p32.1-31.2(chr1:58819605-69107108)x1	AK4, ALG6 +276 more	Copy number loss	See cases	GPathogenic
Select item 59971	GRCh38/hg38 1p32.1-31.1(chr1:59632500-76730877)x1	ACADM, AK4 +331 more	Copy number loss	See cases	GPathogenic
Select item 144228	GRCh38/hg38 1p32.1-31.1(chr1:59760856-71578052)x1	DEPDC1, DEPDC1-AS1 +270 more	Copy number loss	See cases	GPathogenic
Select item 57090	GRCh38/hg38 1p32.1-31.1(chr1:60473800-70944955)x1	LOC122094841, LOC122094842 +253 more	Copy number loss	See cases	GPathogenic
Select item 154385	GRCh38/hg38 1p31.3-31.1(chr1:64072618-75518432)x3	AK4, ANKRD13C +210 more	Copy number gain	See cases	GPathogenic
Select item 152348	GRCh38/hg38 1p31.3(chr1:64944525-67592003)x1	AK4, C1orf141 +90 more	Copy number loss	See cases	GLikely pathogenic
Select item 149153	GRCh38/hg38 1p31.3(chr1:66616829-66948603)x1	DNAI4, DYNLT5 +9 more	Copy number loss	See cases	GUncertain significance
Select item 3109912	NM_005478.6(INSL5):c.299C>T (p.Thr100Ile)	INSL5 (T100I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302993	NM_005478.6(INSL5):c.253G>T (p.Val85Leu)	INSL5 (V85L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377649	NM_005478.6(INSL5):c.248C>T (p.Pro83Leu)	INSL5 (P83L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286147	NM_005478.6(INSL5):c.178G>A (p.Glu60Lys)	INSL5 (E60K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358065	NM_005478.6(INSL5):c.158T>A (p.Ile53Asn)	INSL5 (I53N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465123	NM_005478.6(INSL5):c.119T>C (p.Ile40Thr)	INSL5 (I40T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227665	NM_005478.6(INSL5):c.50T>C (p.Ile17Thr)	INSL5 (I17T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247793	NC_000001.10:g.(?_61548464)_(67861772_?)dup	AK4, ALG6 +32 more	Duplication	PGM1-congenital disorder of glycosylation	GUncertain significance
Select item 2425382	NC_000001.10:g.(?_61548464)_(67861772_?)del	AK4, ALG6 +32 more	Deletion	not provided	GPathogenic
Select item 2424397	NC_000001.10:g.(?_65299551)_(67861772_?)del	AK4, C1orf141 +14 more	Deletion	not provided	GPathogenic
Select item 1808872	GRCh37/hg19 1p31.3(chr1:66815031-67319280)x3	DNAI4, DYNLT5 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1527048	GRCh37/hg19 1p31.3-31.2(chr1:65125111-69186543)	SGIP1, SLC35D1 +23 more	Copy number gain	not specified	GUncertain significance
Select item 686749	GRCh37/hg19 1p31.3-31.1(chr1:66868168-77106425)x1	ACADM, ANKRD13C +39 more	Copy number loss	not provided	GPathogenic
Select item 684460	Single allele	ACADM, ADGRL2 +85 more	Deletion	not provided	Gnot provided
Select item 666427	Single allele	ROR1, RPE65 +53 more	Deletion	Intellectual disability, severe	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 565106	GRCh37/hg19 1p31.3(chr1:64848307-67436595)x1	SGIP1, JAK1 +12 more	Copy number loss	not provided	GUncertain significance
Select item 565102	GRCh37/hg19 1p31.3-31.1(chr1:62434799-71656180)x3	AK4, ALG6 +46 more	Copy number gain	not provided	GPathogenic
Select item 442708	GRCh37/hg19 1p31.3-22.3(chr1:64321264-88153669)x1	ACADM, ADGRL2 +94 more	Copy number loss	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 441647	GRCh37/hg19 1p31.3-31.1(chr1:61351024-79583933)x1	ACADM, ADGRL4 +78 more	Copy number loss	See cases	GPathogenic

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Items: 33