ClinVar for Gene (Select 54866) - ClinVar

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Links from Gene

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3309354	NM_017726.8(PPP1R14D):c.406A>G (p.Lys136Glu)	PPP1R14D (K136E)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3309353	NM_017726.8(PPP1R14D):c.107A>G (p.Asp36Gly)	PPP1R14D (D36G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309352	NM_017726.8(PPP1R14D):c.188G>A (p.Arg63Gln)	PPP1R14D (R63Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309351	NM_017726.8(PPP1R14D):c.425G>A (p.Arg142Gln)	PPP1R14D (G181S +1 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 3217489	NM_017726.8(PPP1R14D):c.361C>T (p.Arg121Cys)	PPP1R14D (R121C)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3217488	NM_017726.8(PPP1R14D):c.321G>A (p.Glu107=)	PPP1R14D (S146N)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3217487	NM_017726.8(PPP1R14D):c.304G>T (p.Asp102Tyr)	PPP1R14D (D102Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217486	NM_017726.8(PPP1R14D):c.143T>C (p.Ile48Thr)	PPP1R14D (I48T)	Single nucleotide variant (missense variant)	not specified	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 3063362	GRCh37/hg19 15q15.1(chr15:40892419-41125118)x3	C15orf62, DNAJC17 +6 more	Copy number gain	not specified	GUncertain significance
Select item 2557386	NM_017726.8(PPP1R14D):c.231T>A (p.Asp77Glu)	PPP1R14D (D77E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548205	NM_017726.8(PPP1R14D):c.203G>T (p.Arg68Leu)	PPP1R14D (R68L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542373	NM_017726.8(PPP1R14D):c.190G>T (p.Gly64Cys)	PPP1R14D (G64C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525470	NM_017726.8(PPP1R14D):c.63G>C (p.Lys21Asn)	PPP1R14D (K21N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424553	NC_000015.9:g.(?_40987528)_(41230232_?)dup	C15orf62, DLL4 +9 more	Duplication	not provided	GUncertain significance
Select item 2254371	NM_017726.8(PPP1R14D):c.134C>G (p.Ser45Cys)	PPP1R14D (S45C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222671	NM_017726.8(PPP1R14D):c.*10A>C	PPP1R14D (R188S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 980032	GRCh37/hg19 15q15.1(chr15:40464942-41196807)x4	DISP2, C15orf62 +23 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 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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Links from Gene

Items: 25