MTLN[gene] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152537	GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3	ACTR1B, ADRA2B +550 more	Copy number gain	See cases	GPathogenic
Select item 149662	GRCh38/hg38 2q11.2-13(chr2:101710825-110791418)x3	ACOXL, BUB1 +241 more	Copy number gain	See cases	GPathogenic
Select item 152239	GRCh38/hg38 2q12.2-14.1(chr2:106428663-112379067)x3	ACOXL, ACOXL-AS1 +154 more	Copy number gain	See cases	GUncertain significance
Select item 150754	GRCh38/hg38 2q12.2-13(chr2:106516472-110576905)x3	CCDC138, CD8B2 +99 more	Copy number gain	See cases	GUncertain significance
Select item 59313	GRCh38/hg38 2q12.2-13(chr2:106696282-110223328)x3	CCDC138, EDAR +93 more	Copy number gain	See cases	GUncertain significance
Select item 148286	GRCh38/hg38 2q13(chr2:108719125-110611314)x3	CCDC138, EDAR +61 more	Copy number gain	See cases	GUncertain significance
Select item 3024348	GRCh38/hg38 2q13(chr2:109301667-110460985)	LIMS3, LIMS3-LOC440895 +33 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 223120	Single allele	LIMS3, LIMS3-LOC440895 +15 more	Duplication	Autism spectrum disorder +1 more	GUncertain significance
Select item 59742	GRCh38/hg38 2q13(chr2:109936618-110452159)x1	LIMS3-LOC440895, LIMS4 +13 more	Copy number loss	See cases	GBenign
Select item 144831	GRCh38/hg38 2q13(chr2:109959903-110360538)x3	LIMS3-LOC440895, LIMS4 +12 more	Copy number gain	See cases	GBenign
Select item 148909	GRCh38/hg38 2q13(chr2:109975055-110576905)x3	LIMS4, LINC01106 +13 more	Copy number gain	See cases	GLikely benign
Select item 57545	GRCh38/hg38 2q13(chr2:110025659-110371270)x0	LIMS4, LOC126806305 +10 more	Copy number loss	See cases	GPathogenic
Select item 145443	GRCh38/hg38 2q13(chr2:110025674-110321488)x3	LOC126806305, LOC126806306 +9 more	Copy number gain	See cases	GBenign
Select item 147196	GRCh38/hg38 2q13(chr2:110025681-110576905)x1	LIMS4, LINC01106 +12 more	Copy number loss	See cases	GBenign
Select item 149321	GRCh38/hg38 2q13(chr2:110049995-110576905)x3	LIMS4, LINC01106 +12 more	Copy number gain	See cases	GLikely benign
Select item 152160	GRCh38/hg38 2q13(chr2:110066680-110225841)x0	LOC126806305, LOC126806306 +7 more	Copy number loss	See cases	GPathogenic
Select item 144830	GRCh38/hg38 2q13(chr2:110076063-110257869)x3	LOC126806305, LOC126806306 +6 more	Copy number gain	See cases	GBenign
Select item 59744	GRCh38/hg38 2q13(chr2:110084138-110611314)x1	LIMS4, LINC01106 +12 more	Copy number loss	See cases	GBenign
Select item 59743	GRCh38/hg38 2q13(chr2:110084138-110212693)x1	LOC126806305, LOC126806306 +5 more	Copy number loss	See cases	GBenign
Select item 59745	GRCh38/hg38 2q13(chr2:110084194-110212693)x1	LOC126806305, LOC126806306 +5 more	Copy number loss	See cases	GBenign
Select item 2505162	GRCh38/hg38 2q13(chr2:110091573-110212811)	LOC126806305, LOC126806306 +5 more	Copy number loss	Nephronophthisis 1	GPathogenic
Select item 453297	Single allele	LOC126806306, LOC126806305 +5 more	Deletion	Senior-loken syndrome 3 +1 more	GPathogenic
Select item 438246	Single allele	LOC126806305, LOC126806306 +5 more	Deletion	Cone dystrophy	GLikely pathogenic
Select item 149342	GRCh38/hg38 2q13(chr2:110104897-110371270)x1	LIMS4, LOC126806305 +8 more	Copy number loss	See cases	GBenign
Select item 145407	GRCh38/hg38 2q13(chr2:110104897-110321488)x1	LOC126806305, LOC126806306 +7 more	Copy number loss	See cases	GBenign
Select item 161069	GRCh38/hg38 2q13(chr2:110104900-110371270)x3	LIMS4, LOC126806305 +8 more	Copy number gain	See cases	GBenign
Select item 161023	GRCh38/hg38 2q13(chr2:110104900-110611314)x3	LIMS4, LINC01106 +11 more	Copy number gain	See cases	GBenign
Select item 151434	GRCh38/hg38 2q13(chr2:110104900-110257869)x1	LOC126806305, LOC126806306 +5 more	Copy number loss	See cases	GLikely benign
Select item 146178	GRCh38/hg38 2q13(chr2:110104900-110611314)x1	LIMS4, LINC01106 +11 more	Copy number loss	See cases	GBenign
Select item 144426	GRCh38/hg38 2q13(chr2:110104900-110321480)x1	LOC126806305, LOC126806306 +7 more	Copy number loss	See cases	GBenign
Select item 32161	GRCh38/hg38 2q13(chr2:110104900-110371270)x3	LIMS4, LOC126806305 +8 more	Copy number gain	See cases	GBenign
Select item 3340099	Single allele	LOC126806306, LOC129934555 +4 more	Deletion	Nephronophthisis 1	GPathogenic
Select item 146632	GRCh38/hg38 2q13(chr2:110143816-110222824)x1	LOC126806306, LOC129934555 +3 more	Copy number loss	See cases	GBenign
Select item 153087	GRCh38/hg38 2q13(chr2:110143902-110222910)x1	LOC126806306, LOC129934555 +3 more	Copy number loss	See cases	GBenign

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Items: 34