SH2D5[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC112577491, LOC112577504 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 57443	GRCh38/hg38 1p36.21-36.12(chr1:15385267-20980349)x1	ACTL8, AGMAT +303 more	Copy number loss	See cases	GPathogenic
Select item 59918	GRCh38/hg38 1p36.13-36.12(chr1:18347821-22512894)x1	EMC1-AS1, FAM43B +221 more	Copy number loss	See cases	GPathogenic
Select item 149019	GRCh38/hg38 1p36.13-36.12(chr1:19548795-20935131)x1	CAMK2N1, CDA +81 more	Copy number loss	See cases	GUncertain significance
Select item 59925	GRCh38/hg38 1p36.12(chr1:20482657-21271999)x1	CAMK2N1, CDA +28 more	Copy number loss	See cases	GPathogenic
Select item 3161189	NM_001103161.2(SH2D5):c.1268G>A (p.Gly423Asp)	SH2D5 (G339D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161188	NM_001103161.2(SH2D5):c.1246G>A (p.Glu416Lys)	SH2D5 (E332K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258940	NM_001103161.2(SH2D5):c.1195C>G (p.Pro399Ala)	SH2D5 (P315A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363973	NM_001103161.2(SH2D5):c.1117G>A (p.Ala373Thr)	SH2D5 (A373T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325341	NM_001103161.2(SH2D5):c.1070A>G (p.His357Arg)	SH2D5 (H273R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366974	NM_001103161.2(SH2D5):c.1055G>A (p.Arg352His)	SH2D5 (R268H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263467	NM_001103161.2(SH2D5):c.1033G>C (p.Val345Leu)	SH2D5 (V261L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161185	NM_001103161.2(SH2D5):c.1024C>T (p.Pro342Ser)	SH2D5 (P258S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243467	NM_001103161.2(SH2D5):c.1004G>A (p.Arg335His)	SH2D5 (R335H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3161197	NM_001103161.2(SH2D5):c.950C>T (p.Ala317Val)	SH2D5 (A317V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329596	NM_001103161.2(SH2D5):c.826C>T (p.Arg276Trp)	SH2D5 (R276W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482305	NM_001103161.2(SH2D5):c.811T>C (p.Trp271Arg)	SH2D5 (W187R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488119	NM_001103161.2(SH2D5):c.785C>T (p.Ser262Leu)	SH2D5 (S178L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161196	NM_001103161.2(SH2D5):c.749A>G (p.Tyr250Cys)	SH2D5 (Y166C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161195	NM_001103161.2(SH2D5):c.647C>T (p.Ser216Leu)	SH2D5 (S216L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411318	NM_001103161.2(SH2D5):c.598C>T (p.Arg200Trp)	SH2D5 (R200W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161194	NM_001103161.2(SH2D5):c.596G>A (p.Arg199Gln)	SH2D5 (R199Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512692	NM_001103161.2(SH2D5):c.587T>C (p.Val196Ala)	SH2D5 (V112A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393901	NM_001103161.2(SH2D5):c.538C>T (p.Arg180Trp)	SH2D5 (R180W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161193	NM_001103161.2(SH2D5):c.506T>C (p.Leu169Pro)	SH2D5 (L169P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161192	NM_001103161.2(SH2D5):c.418C>T (p.Arg140Cys)	SH2D5 (R56C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244829	NM_001103161.2(SH2D5):c.412C>A (p.Leu138Met)	SH2D5 (L138M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161191	NM_001103161.2(SH2D5):c.341C>T (p.Pro114Leu)	SH2D5 (P114L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409864	NM_001103161.2(SH2D5):c.331C>T (p.Pro111Ser)	SH2D5 (P111S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276281	NM_001103161.2(SH2D5):c.314C>T (p.Ala105Val)	SH2D5 (A105V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317225	NM_001103161.2(SH2D5):c.301G>A (p.Asp101Asn)	SH2D5 (D17N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234215	NM_001103161.2(SH2D5):c.259C>T (p.His87Tyr)	SH2D5 (H3Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411116	NM_001103161.2(SH2D5):c.169G>A (p.Asp57Asn)	SH2D5 (D57N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3161190	NM_001103161.2(SH2D5):c.143T>C (p.Val48Ala)	SH2D5 (V48A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3161186	NM_001103161.2(SH2D5):c.104C>A (p.Pro35His)	SH2D5 (P35H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2341975	NM_001103161.2(SH2D5):c.58C>T (p.Arg20Trp)	SH2D5 (R20W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3242274	GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2	AADACL3, AADACL4 +207 more	Copy number loss	not provided	GPathogenic
Select item 2685366	GRCh37/hg19 1p36.12(chr1:21019147-21114016)x1	HP1BP3, KIF17 +1 more	Copy number loss	not provided	GUncertain significance
Select item 2685031	GRCh37/hg19 1p36.13-36.12(chr1:17291707-23016395)x4	ACTL8, AKR7A2 +65 more	Copy number gain	not provided	GLikely pathogenic
Select item 2424757	NC_000001.10:g.(?_19199339)_(22987879_?)dup	AKR7A2, AKR7A3 +49 more	Duplication	Congenital disorder of glycosylation type Ir +2 more	GUncertain significance
Select item 2422561	NC_000001.10:g.(?_19199339)_(24690861_?)dup	AKR7A2, AKR7A3 +77 more	Duplication	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
Select item 1228381	GRCh37/hg19 1p36.13-36.12(chr1:16785250-23491592)x1	FAM43B, HP1BP3 +77 more	Copy number loss	1p36.1 deletion syndrome	GPathogenic
Select item 980392	GRCh37/hg19 1p36.21-36.12(chr1:16041431-21295864)x1	EMC1, EPHA2 +73 more	Copy number loss	not provided	GPathogenic
Select item 980391	GRCh37/hg19 1p36.13-36.12(chr1:17284906-21778495)x1	AKR7A3, AKR7L +51 more	Copy number loss	not provided	GPathogenic
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 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 395038	GRCh37/hg19 1p36.12(chr1:21039972-21053500)x1	KIF17, SH2D5	Copy number loss	See cases	GUncertain significance
Select item 221359	chr1:17555508-24706269 complex variant	ACTL8, AKR7A2 +88 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 221334	Single allele	IGSF21, IL22RA1 +314 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 50