ClinVar for Gene (Select 51203) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 2671612	Single allele	ADAL, AFG2B +103 more	Deletion	not provided	GPathogenic
Select item 2645190	NM_016359.5(NUSAP1):c.189T>G (p.Ser63=)	NUSAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2600376	NM_016359.5(NUSAP1):c.341C>A (p.Thr114Asn)	NUSAP1 (T113N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2570530	NM_016359.5(NUSAP1):c.839C>T (p.Thr280Met)	NUSAP1 (T278M +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2478790	NM_016359.5(NUSAP1):c.421C>A (p.Gln141Lys)	NUSAP1 (Q141K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464246	NM_016359.5(NUSAP1):c.417G>T (p.Glu139Asp)	NUSAP1 (E124D +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459321	NM_016359.5(NUSAP1):c.689G>A (p.Arg230Lys)	NUSAP1 (R206K +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402914	NM_016359.5(NUSAP1):c.989C>T (p.Thr330Met)	NUSAP1 (T306M +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389381	NM_016359.5(NUSAP1):c.440T>A (p.Val147Asp)	NUSAP1 (V124D +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373629	NM_016359.5(NUSAP1):c.761G>A (p.Arg254Gln)	NUSAP1 (R230Q +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2368027	NM_016359.5(NUSAP1):c.1148C>G (p.Ser383Cys)	NUSAP1 (S381C +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2352418	NM_016359.5(NUSAP1):c.1158T>A (p.Asn386Lys)	NUSAP1 (N323K +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328092	NM_016359.5(NUSAP1):c.292G>T (p.Asp98Tyr)	NUSAP1 (D75Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326768	NM_016359.5(NUSAP1):c.401C>A (p.Pro134His)	NUSAP1 (P111H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295781	NM_016359.5(NUSAP1):c.830C>T (p.Ala277Val)	NUSAP1 (A276V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1691707	NM_016359.5(NUSAP1):c.1209C>A (p.Tyr403Ter)	NUSAP1 (Y340* +4 more)	Single nucleotide variant (nonsense)	Microcephaly, seizures, and developmental delay	GLikely pathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ALDH1A2, ALPK3 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 815706	GRCh37/hg19 15q15.1(chr15:41412285-41645212)x3	NUSAP1, OIP5 +2 more	Copy number gain	not provided	GUncertain significance
Select item 585332	GRCh37/hg19 15q14-15.1 chr15:34638237..42057083 complex variant	CCDC32, RTF1 +60 more	Complex	Spindle cell sarcoma	GPathogenic
Select item 560049	Single allele	AAGAB, ABHD17C +523 more	Duplication	not provided	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 442816	GRCh37/hg19 15q15.1(chr15:41370581-41688429)x1	CHP1, EXD1 +4 more	Copy number loss	See cases	GLikely benign
Select item 395609	GRCh37/hg19 15q15.1(chr15:41605469-41657779)x1	NUSAP1, OIP5	Copy number loss	See cases	GLikely benign
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	GPR176, GRAMD2A +568 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 30