SH3BGRL3[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 2262649	NM_031286.4(SH3BGRL3):c.5G>A (p.Ser2Asn)	SH3BGRL3 (S2N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311429	NM_031286.4(SH3BGRL3):c.7G>T (p.Gly3Cys)	SH3BGRL3 (G3C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161228	NM_031286.4(SH3BGRL3):c.77G>A (p.Arg26Gln)	SH3BGRL3 (R26Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318038	NM_031286.4(SH3BGRL3):c.150G>T (p.Met50Ile)	SH3BGRL3 (M50I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373606	NM_031286.4(SH3BGRL3):c.155C>T (p.Ala52Val)	SH3BGRL3 (A52V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519635	NM_031286.4(SH3BGRL3):c.203A>G (p.Asp68Gly)	SH3BGRL3 (D68G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161227	NM_031286.4(SH3BGRL3):c.232G>C (p.Val78Leu)	SH3BGRL3 (V78L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426901	NC_000001.10:g.(?_25870190)_(27278871_?)dup	ARID1A, AUNIP +33 more	Duplication	Retinitis pigmentosa 59	GUncertain significance
Select item 1341062	GRCh37/hg19 1p36.11(chr1:26246213-27044118)x3	ARID1A, CATSPER4 +18 more	Copy number gain	not provided	GUncertain significance
Select item 1072550	NC_000001.10:g.(?_25870180)_(26795632_?)del	AUNIP, CATSPER4 +22 more	Deletion	Hypercholesterolemia, familial, 4	GPathogenic
Select item 687260	GRCh37/hg19 1p36.11(chr1:26603699-26903828)x3	CD52, CEP85 +8 more	Copy number gain	not provided	GUncertain significance
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 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