SH3GLB1[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150045	GRCh38/hg38 1p31.1-22.2(chr1:76419302-88628464)x1	ADGRL2, ADGRL4 +241 more	Copy number loss	See cases	GPathogenic
Select item 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LOC129930966, LOC129930967 +548 more	Copy number gain	See cases	GPathogenic
Select item 149325	GRCh38/hg38 1p22.3-22.2(chr1:86228890-88466303)x1	CLCA1, CLCA2 +47 more	Copy number loss	See cases	GUncertain significance
Select item 2478751	NM_016009.5(SH3GLB1):c.65C>T (p.Ala22Val)	SH3GLB1 (A22V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161317	NM_016009.5(SH3GLB1):c.132C>A (p.Asn44Lys)	SH3GLB1 (N44K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251851	NM_016009.5(SH3GLB1):c.150A>C (p.Glu50Asp)	SH3GLB1 (E50D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161318	NM_016009.5(SH3GLB1):c.152G>A (p.Cys51Tyr)	SH3GLB1 (C51Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206851	NM_016009.5(SH3GLB1):c.160A>G (p.Ile54Val)	SH3GLB1 (I54V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214454	NM_016009.5(SH3GLB1):c.215A>G (p.Asn72Ser)	SH3GLB1 (N72S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457945	NM_016009.5(SH3GLB1):c.269G>A (p.Arg90His)	SH3GLB1 (R90H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307739	NM_016009.5(SH3GLB1):c.293G>A (p.Gly98Glu)	SH3GLB1 (G98E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286117	NM_016009.5(SH3GLB1):c.301A>G (p.Met101Val)	SH3GLB1 (M1V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612220	NM_016009.5(SH3GLB1):c.370A>G (p.Thr124Ala)	SH3GLB1 (T24A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161319	NM_016009.5(SH3GLB1):c.533G>A (p.Arg178Lys)	SH3GLB1 (R178K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368705	NM_016009.5(SH3GLB1):c.570+4013C>T	SH3GLB1 (R196C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161320	NM_016009.5(SH3GLB1):c.646A>G (p.Ile216Val)	SH3GLB1 (I216V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468007	NM_016009.5(SH3GLB1):c.659A>G (p.His220Arg)	SH3GLB1 (H220R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161321	NM_016009.5(SH3GLB1):c.731A>G (p.Tyr244Cys)	SH3GLB1 (Y273C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161322	NM_016009.5(SH3GLB1):c.773A>G (p.Asn258Ser)	SH3GLB1 (N258S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293475	NM_016009.5(SH3GLB1):c.847G>T (p.Ala283Ser)	SH3GLB1 (A304S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295456	NM_016009.5(SH3GLB1):c.941A>G (p.Tyr314Cys)	SH3GLB1 (Y314C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527060	GRCh37/hg19 1p31.3-22.1(chr1:68180293-92731957)	MCOLN3, MIGA1 +97 more	Copy number loss	not specified	GPathogenic
Select item 979897	GRCh37/hg19 1p31.1-22.2(chr1:80804502-89490384)x3	LMO4, CLCA4 +33 more	Copy number gain	not provided	GLikely pathogenic
Select item 684460	Single allele	ACADM, ADGRL2 +85 more	Deletion	not provided	Gnot provided
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
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)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 441908	GRCh37/hg19 1p31.1-22.1(chr1:72044544-92505091)x1	ACADM, ADGRL2 +80 more	Copy number loss	See cases	GPathogenic

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Items: 29