NUSAP1[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3203320	NM_016359.5(NUSAP1):c.164A>G (p.Asp55Gly)	NUSAP1 (D55G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645190	NM_016359.5(NUSAP1):c.189T>G (p.Ser63=)	NUSAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2328092	NM_016359.5(NUSAP1):c.292G>T (p.Asp98Tyr)	NUSAP1 (D75Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600376	NM_016359.5(NUSAP1):c.341C>A (p.Thr114Asn)	NUSAP1 (T113N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203321	NM_016359.5(NUSAP1):c.371G>T (p.Ser124Ile)	NUSAP1 (S109I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326768	NM_016359.5(NUSAP1):c.401C>A (p.Pro134His)	NUSAP1 (P111H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464246	NM_016359.5(NUSAP1):c.417G>T (p.Glu139Asp)	NUSAP1 (E124D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478790	NM_016359.5(NUSAP1):c.421C>A (p.Gln141Lys)	NUSAP1 (Q141K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389381	NM_016359.5(NUSAP1):c.440T>A (p.Val147Asp)	NUSAP1 (V124D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203322	NM_016359.5(NUSAP1):c.466G>A (p.Val156Ile)	NUSAP1 (V133I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301625	NM_016359.5(NUSAP1):c.533C>T (p.Thr178Ile)	NUSAP1 (T163I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203323	NM_016359.5(NUSAP1):c.561G>C (p.Lys187Asn)	NUSAP1 (K186N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459321	NM_016359.5(NUSAP1):c.689G>A (p.Arg230Lys)	NUSAP1 (R206K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373629	NM_016359.5(NUSAP1):c.761G>A (p.Arg254Gln)	NUSAP1 (R230Q +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3203324	NM_016359.5(NUSAP1):c.794G>A (p.Gly265Asp)	NUSAP1 (G250D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295781	NM_016359.5(NUSAP1):c.830C>T (p.Ala277Val)	NUSAP1 (A276V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570530	NM_016359.5(NUSAP1):c.839C>T (p.Thr280Met)	NUSAP1 (T278M +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2402914	NM_016359.5(NUSAP1):c.989C>T (p.Thr330Met)	NUSAP1 (T306M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368027	NM_016359.5(NUSAP1):c.1148C>G (p.Ser383Cys)	NUSAP1 (S381C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352418	NM_016359.5(NUSAP1):c.1158T>A (p.Asn386Lys)	NUSAP1 (N323K +4 more)	Single nucleotide variant (missense variant)	not specified	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 3203319	NM_016359.5(NUSAP1):c.1220A>G (p.His407Arg)	NUSAP1 (H405R +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3301626	NM_016359.5(NUSAP1):c.1251A>T (p.Lys417Asn)	NUSAP1 (K417N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301623	NM_016359.5(NUSAP1):c.1265G>A (p.Arg422Gln)	NUSAP1 (R359Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243779	NC_000015.9:g.(?_38545387)_(42105565_?)dup	ANKRD63, BAHD1 +49 more	Duplication	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
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 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +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	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 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	OIP5, NUSAP1	Copy number loss	See cases	GLikely benign
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic

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Items: 36