ClinVar for Gene (Select 10914) - ClinVar

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Links from Gene

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3208428	NM_032632.5(PAPOLA):c.915C>A (p.Asn305Lys)	PAPOLA (N55K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208427	NM_032632.5(PAPOLA):c.248A>G (p.Lys83Arg)	PAPOLA (K83R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208426	NM_032632.5(PAPOLA):c.2074C>G (p.Leu692Val)	PAPOLA (L442V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208425	NM_032632.5(PAPOLA):c.1931C>G (p.Thr644Ser)	PAPOLA (T643S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208424	NM_032632.5(PAPOLA):c.1535G>T (p.Gly512Val)	PAPOLA (G262V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684743	GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3	ADSS1, AHNAK2 +182 more	Copy number gain	not provided	GPathogenic
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	ACOT4, ACOT6 +353 more	Copy number gain	not provided	GPathogenic
Select item 2611887	NM_032632.5(PAPOLA):c.1579A>G (p.Met527Val)	PAPOLA (M277V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590976	NM_032632.5(PAPOLA):c.2078A>C (p.Asp693Ala)	PAPOLA (D692A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495466	NM_032632.5(PAPOLA):c.1739A>T (p.Gln580Leu)	PAPOLA (Q579L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457521	NM_032632.5(PAPOLA):c.73C>G (p.Pro25Ala)	PAPOLA (P25A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455732	NM_032632.5(PAPOLA):c.1829C>T (p.Pro610Leu)	PAPOLA (P609L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427518	NC_000014.8:g.(?_95080779)_(97347545_?)dup	PAPOLA, PAPOLA-DT +17 more	Duplication	not provided	GUncertain significance
Select item 2425566	NC_000014.8:g.(?_90429459)_(97347545_?)dup	SNHG10, TDP1 +66 more	Duplication	not provided	GUncertain significance
Select item 2409958	NM_032632.5(PAPOLA):c.1541A>G (p.Lys514Arg)	PAPOLA (K264R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2363137	NM_032632.5(PAPOLA):c.943A>G (p.Ile315Val)	PAPOLA (I65V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321403	NM_032632.5(PAPOLA):c.1271C>T (p.Pro424Leu)	PAPOLA (P174L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304756	NM_032632.5(PAPOLA):c.109G>C (p.Val37Leu)	PAPOLA (V37L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2297858	NM_032632.5(PAPOLA):c.1621G>A (p.Ala541Thr)	PAPOLA (A291T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280525	NM_032632.5(PAPOLA):c.1373A>G (p.Tyr458Cys)	PAPOLA (Y208C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266398	NM_032632.5(PAPOLA):c.1843G>T (p.Val615Phe)	PAPOLA (V614F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254773	NM_032632.5(PAPOLA):c.1711A>G (p.Ile571Val)	PAPOLA (I571V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807775	GRCh37/hg19 14q31.2-32.33(chr14:84537502-107285437)x3	ADSS1, AHNAK2 +185 more	Copy number gain	not provided	GPathogenic
Select item 1807735	GRCh37/hg19 14q31.1-32.2(chr14:81593708-97059276)x3	OTUB2, PAPOLA +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	ABCD4, ABHD12B +447 more	Copy number gain	See cases	GPathogenic
Select item 1340262	GRCh37/hg19 14q32.13-32.31(chr14:95871795-102457523)x1	AK7, ATG2B +56 more	Copy number loss	not provided	GPathogenic
Select item 980623	GRCh37/hg19 14q32.2(chr14:96990585-97279069)x3	VRK1, PAPOLA	Copy number gain	not provided	GUncertain significance
Select item 929832	GRCh37/hg19 14q32.2-32.33(chr14:96829290-107287663)x1	PPP2R5C, RCOR1 +112 more	Copy number loss	See cases	GPathogenic
Select item 721192	NM_032632.5(PAPOLA):c.558T>C (p.Asp186=)	PAPOLA	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 720691	NM_032632.5(PAPOLA):c.1569C>T (p.Leu523=)	PAPOLA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 720690	NM_032632.5(PAPOLA):c.8+7A>C	PAPOLA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 718754	NM_032632.5(PAPOLA):c.1632C>T (p.Thr544=)	PAPOLA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 688784	GRCh37/hg19 14q32.2(chr14:96990585-97287723)x3	PAPOLA, VRK1	Copy number gain	not provided	GUncertain significance
Select item 687996	GRCh37/hg19 14q32.12-32.33(chr14:91969028-107285437)x3	BTBD6, MIR369 +164 more	Copy number gain	not provided	GPathogenic
Select item 564120	GRCh37/hg19 14q32.2(chr14:96641506-97154180)x3	BDKRB1, PAPOLA-DT +5 more	Copy number gain	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	ABCD4, ABHD12B +624 more	Copy number gain	See cases	GPathogenic
Select item 442718	GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3	NUMB, OTUB2 +261 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ERG28, OR11G2 +635 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC125048431, LOC125048432 +3280 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1202 more	Copy number gain	See cases	GPathogenic
Select item 146793	GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)x1	ADSS1, AHNAK2 +754 more	Copy number loss	See cases	GPathogenic
Select item 146638	GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3	ADSS1, AK7 +662 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	FSCB, FUT8 +3275 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	ABCD4, ACYP1 +1421 more	Copy number gain	See cases	GPathogenic
Select item 100882	NM_032632.5(PAPOLA):c.1464A>G (p.Val488=)	PAPOLA	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	ADSS1, AHNAK2 +880 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056672, LOC130056673 +1071 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 47