SH3BGRL2[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154460	GRCh38/hg38 6q12-14.2(chr6:64549655-83426791)x1	ADGRB3, ADGRB3-DT +310 more	Copy number loss	See cases	GPathogenic
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 155438	GRCh38/hg38 6q14.1-16.1(chr6:75926199-92710793)x1	AKIRIN2, ANKRD6 +299 more	Copy number loss	See cases	GPathogenic
Select item 155132	GRCh38/hg38 6q14.1(chr6:78661176-80245532)x1	BCKDHB, ELOVL4 +27 more	Copy number loss	See cases	GUncertain significance
Select item 969	NM_181714.4(LCA5):c.0_-298+211del	LCA5, LOC129996749 +1 more	Deletion	Leber congenital amaurosis 5	GPathogenic
Select item 3161224	NM_031469.4(SH3BGRL2):c.157G>A (p.Val53Ile)	SH3BGRL2 (V53I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3161225	NM_031469.4(SH3BGRL2):c.254C>A (p.Ser85Tyr)	SH3BGRL2 (S85Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359377	NM_031469.4(SH3BGRL2):c.296C>T (p.Pro99Leu)	SH3BGRL2 (P99L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161226	NM_031469.4(SH3BGRL2):c.298C>T (p.Arg100Trp)	SH3BGRL2 (R100W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3245949	NC_000006.11:g.(?_79650410)_(81053521_?)del	BCKDHB, ELOVL4 +6 more	Deletion	Maple syrup urine disease	GPathogenic
Select item 2685207	GRCh37/hg19 6q14.1(chr6:79199356-80915988)x1	BCKDHB, ELOVL4 +7 more	Copy number loss	not provided	GPathogenic
Select item 2426770	NC_000006.11:g.(?_79650410)_(80912949_?)del	BCKDHB, ELOVL4 +6 more	Deletion	Maple syrup urine disease	GPathogenic
Select item 1808485	GRCh37/hg19 6q14.1(chr6:77773778-80880138)x3	BCKDHB, ELOVL4 +8 more	Copy number gain	not provided	GUncertain significance
Select item 1711170	GRCh37/hg19 6q14.1-16.1(chr6:78911022-98909173)x1	AKIRIN2, ANKRD6 +65 more	Copy number loss	See cases	GUncertain significance
Select item 1527249	GRCh37/hg19 6q12-16.1(chr6:69938252-94379210)	BACH2, ADGRB3 +88 more	Copy number gain	not specified	GPathogenic
Select item 1341189	GRCh37/hg19 6q13-14.1(chr6:72799054-83275894)x1	BCKDHB, CD109 +31 more	Copy number loss	not provided	GPathogenic
Select item 1341156	GRCh37/hg19 6q14.1(chr6:80298478-80372195)x1	SH3BGRL2	Copy number loss	not provided	GUncertain significance
Select item 832486	NC_000006.12:g.(?_79487004)_(79631506_?)dup	LCA5, SH3BGRL2	Duplication	not provided	GUncertain significance
Select item 814838	GRCh37/hg19 6q14.1(chr6:80113392-80351699)x3	LCA5, SH3BGRL2	Copy number gain	not provided	GLikely benign
Select item 686982	GRCh37/hg19 6q14.1(chr6:80113392-80353070)x3	LCA5, SH3BGRL2	Copy number gain	not provided	GUncertain significance
Select item 686728	GRCh37/hg19 6q14.1(chr6:80113392-80353483)x3	LCA5, SH3BGRL2	Copy number gain	not provided	GUncertain significance
Select item 686265	GRCh37/hg19 6q14.1(chr6:78216253-82753743)x3	BCKDHB, ELOVL4 +8 more	Copy number gain	not provided	GUncertain significance
Select item 685035	GRCh37/hg19 6q14.1(chr6:80238027-80487813)x3	LCA5, SH3BGRL2	Copy number gain	not provided	GUncertain significance
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 563197	GRCh37/hg19 6q14.1(chr6:80298478-80362940)x1	SH3BGRL2	Copy number loss	not provided	GUncertain significance
Select item 563192	GRCh37/hg19 6q13-14.2(chr6:73674612-84829774)x1	BCKDHB, CD109 +40 more	Copy number loss	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 394546	GRCh37/hg19 6q14.1(chr6:80247117-80453966)x3	LCA5, SH3BGRL2	Copy number gain	See cases	GUncertain significance

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Items: 29