SH3GL3[gene] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057816, LOC130057817 +1763 more	Copy number gain	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	ABHD17C, ABHD2 +1244 more	Copy number gain	See cases	GPathogenic
Select item 58083	GRCh38/hg38 15q25.2(chr15:82558402-84121082)x3	LOC130057773, LOC130057774 +72 more	Copy number gain	See cases	GPathogenic
Select item 147948	GRCh38/hg38 15q25.2-25.3(chr15:82560915-85185613)x1	ADAMTSL3, ALPK3 +119 more	Copy number loss	See cases	GLikely pathogenic
Select item 155058	GRCh38/hg38 15q25.2-25.3(chr15:82627214-85243616)x1	ADAMTSL3, ALPK3 +119 more	Copy number loss	See cases	GLikely pathogenic
Select item 147691	GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3	LOC111822949, LOC112272574 +664 more	Copy number gain	See cases	GPathogenic
Select item 2624079	NM_003027.5(SH3GL3):c.89A>G (p.Asp30Gly)	SH3GL3 (D30G +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2623493	NM_003027.5(SH3GL3):c.119T>C (p.Ile40Thr)	SH3GL3 (I5T +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2365220	NM_003027.5(SH3GL3):c.241G>T (p.Val81Leu)	SH3GL3 (V46L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2385679	NM_003027.5(SH3GL3):c.410A>T (p.Gln137Leu)	SH3GL3 (Q137L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2300850	NM_003027.5(SH3GL3):c.557C>T (p.Ala186Val)	SH3GL3 (A186V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2527311	NM_003027.5(SH3GL3):c.667T>A (p.Leu223Ile)	SH3GL3 (L154I +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2382294	NM_003027.5(SH3GL3):c.764A>G (p.Tyr255Cys)	SH3GL3 (Y186C +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2243175	NM_003027.5(SH3GL3):c.791C>G (p.Ser264Cys)	SH3GL3 (S229C +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 146851	GRCh38/hg38 15q25.2(chr15:83598551-84060830)x3	ADAMTSL3, LOC126862204 +24 more	Copy number gain	See cases	GLikely benign
Select item 2569184	NM_003027.5(SH3GL3):c.844A>G (p.Asn282Asp)	SH3GL3 (N247D +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 807300	NM_003027.5(SH3GL3):c.974G>A (p.Gly325Glu)	SH3GL3 (G256E +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2235033	NM_003027.5(SH3GL3):c.1027G>T (p.Val343Leu)	SH3GL3 (V308L +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2685526	GRCh37/hg19 15q25.2(chr15:83220107-84811774)x1	BTBD1, SCARNA15 +11 more	Copy number loss	not provided	GPathogenic
Select item 2684766	GRCh37/hg19 15q25.2-25.3(chr15:83169558-85779567)x3	ADAMTSL3, ALPK3 +19 more	Copy number gain	not provided	GUncertain significance
Select item 2580298	GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3	ABHD17C, ABHD2 +174 more	Copy number gain	See cases	GPathogenic
Select item 2498631	GRCh37/hg19 15q25.2-26.3(chr15:84228005-102264590)x3	SEC11A, SELENOS +86 more	Copy number gain	not provided	GPathogenic
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	ISLR2, MESD +209 more	Copy number gain	not provided	GPathogenic
Select item 1809424	GRCh37/hg19 15q24.3-26.3(chr15:77512817-102035027)x3	ABHD17C, ABHD2 +139 more	Copy number gain	not provided	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ALDH1A2, ALPK3 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 980540	GRCh37/hg19 15q25.2-25.3(chr15:83201955-85786847)x1	ADAMTSL3, ALPK3 +19 more	Copy number loss	not provided	GPathogenic
Select item 689260	GRCh37/hg19 15q25.2(chr15:84204529-84605706)x3	ADAMTSL3, SH3GL3	Copy number gain	not provided	GUncertain significance
Select item 687860	GRCh37/hg19 15q25.2(chr15:82688216-84796779)x1	ADAMTSL3, AP3B2 +12 more	Copy number loss	not provided	GPathogenic
Select item 687234	GRCh37/hg19 15q25.2(chr15:84022862-84171247)x3	SH3GL3	Copy number gain	not provided	GUncertain significance
Select item 685629	GRCh37/hg19 15q25.2(chr15:82468371-84797068)x3	ADAMTSL3, AP3B2 +14 more	Copy number gain	not provided	GUncertain significance
Select item 685569	GRCh37/hg19 15q25.2(chr15:83982145-84171247)x3	SH3GL3	Copy number gain	not provided	GUncertain significance
Select item 666438	GRCh37/hg19 15q25.2(chr15:83214012-84772030)x1	ADAMTSL3, AP3B2 +11 more	Copy number loss	not provided	GPathogenic
Select item 625751	GRCh37/hg19 15q25.2-26.1(chr15:83883823-92165844)	ABHD2, ACAN +58 more	Copy number loss	not provided	GPathogenic
Select item 564226	GRCh37/hg19 15q25.2(chr15:84060589-84224905)x1	SH3GL3	Copy number loss	not provided	GUncertain significance
Select item 564223	GRCh37/hg19 15q25.1-25.3(chr15:79023343-87158823)x1,2	ABHD17C, ADAMTS7 +49 more	Copy number gain	not provided	GPathogenic
Select item 564221	GRCh37/hg19 15q24.3-26.3(chr15:77479244-102429112)x3	ABHD17C, ABHD2 +143 more	Copy number gain	not provided	GPathogenic
Select item 564214	GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3	ABHD17C, ABHD2 +215 more	Copy number gain	not provided	GPathogenic
Select item 560049	Single allele	AAGAB, ABHD17C +523 more	Duplication	not provided	GPathogenic
Select item 549640	NC_000015.9:g.83214012_84812693del1598682	ADAMTSL3, AP3B2 +11 more	Deletion	Primary amenorrhea	GLikely pathogenic
Select item 443269	GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3	ABHD17C, ABHD2 +154 more	Copy number gain	See cases	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +561 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	AAGAB, ABHD17C +561 more	Copy number gain	See cases	GPathogenic
Select item 441779	GRCh37/hg19 15q25.2(chr15:82606408-84970771)x3	ADAMTSL3, AP3B2 +12 more	Copy number gain	See cases	GUncertain significance
Select item 441679	GRCh37/hg19 15q25.2(chr15:83169558-84847653)x1	ADAMTSL3, AP3B2 +11 more	Copy number loss	See cases	GLikely pathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	GPR176, GRAMD2A +568 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	AAGAB, ABHD17C +446 more	Copy number gain	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	SLC24A1, SLC28A1 +310 more	Copy number gain	not provided	GLikely pathogenic
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +279 more	Copy number gain	See cases	GPathogenic
Select item 221753	GRCh37/hg19 15q25.2(chr15:83213963-84811815)x1	ADAMTSL3, AP3B2 +11 more	Copy number loss	Premature ovarian failure	GLikely pathogenic

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Items: 49