ClinVar for Gene (Select 57645) - ClinVar

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Links from Gene

Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3216220	NM_017542.5(POGK):c.458G>A (p.Arg153His)	POGK (R153H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216219	NM_017542.5(POGK):c.33C>A (p.Ser11Arg)	POGK (S11R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3216218	NM_017542.5(POGK):c.1680T>G (p.Ser560Arg)	POGK (S560R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685754	GRCh37/hg19 1q23.3-25.1(chr1:164571371-175708060)x1	ADCY10, ALDH9A1 +81 more	Copy number loss	not provided	GPathogenic
Select item 2615234	NM_017542.5(POGK):c.217C>T (p.Arg73Trp)	POGK (R73W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611237	NM_017542.5(POGK):c.579C>A (p.Ser193Arg)	POGK (S75R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592371	NM_017542.5(POGK):c.1018G>T (p.Val340Phe)	POGK (V222F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559321	NM_017542.5(POGK):c.952G>A (p.Asp318Asn)	POGK (D318N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554349	NM_017542.5(POGK):c.169T>A (p.Ser57Thr)	POGK (S57T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551932	NM_017542.5(POGK):c.1441G>A (p.Val481Met)	POGK (V363M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543936	NM_017542.5(POGK):c.467G>A (p.Arg156Gln)	POGK (R156Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533773	NM_017542.5(POGK):c.764A>G (p.Lys255Arg)	POGK (K137R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507986	NM_017542.5(POGK):c.388G>T (p.Asp130Tyr)	POGK (D12Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492644	NM_017542.5(POGK):c.23T>G (p.Leu8Arg)	POGK (L8R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2488275	NM_017542.5(POGK):c.1670G>A (p.Ser557Asn)	POGK (S557N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460882	NM_017542.5(POGK):c.743G>A (p.Arg248Gln)	POGK (R130Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404140	NM_017542.5(POGK):c.1286G>T (p.Ser429Ile)	POGK (S311I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402874	NM_017542.5(POGK):c.1807G>A (p.Glu603Lys)	POGK (E603K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391938	NM_017542.5(POGK):c.1651G>T (p.Val551Phe)	POGK (V433F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336921	NM_017542.5(POGK):c.230G>A (p.Arg77Lys)	POGK (R77K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330741	NM_017542.5(POGK):c.13G>T (p.Ala5Ser)	POGK (A5S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2258506	NM_017542.5(POGK):c.533G>C (p.Gly178Ala)	POGK (G178A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527348	GRCh37/hg19 1q23.3-24.3(chr1:162330810-171532331)	ADCY10, ALDH9A1 +62 more	Copy number loss	not specified	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +2 more	GUncertain significance
Select item 979302	GRCh37/hg19 1q23.3-24.2(chr1:164608682-169216098)x1	STYXL2, GPR161 +30 more	Copy number loss	not provided	GLikely pathogenic
Select item 814136	GRCh37/hg19 1q24.1-24.2(chr1:166284108-167681975)x1	CREG1, TADA1 +8 more	Copy number loss	not provided	GUncertain significance
Select item 783953	NM_017542.5(POGK):c.870C>T (p.Leu290=)	POGK	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 688465	GRCh37/hg19 1q23.3-24.2(chr1:163093021-168991239)x1	ADCY10, ALDH9A1 +30 more	Copy number loss	not provided	GPathogenic
Select item 688082	GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1	ACKR1, ADAMTS4 +132 more	Copy number loss	not provided	GPathogenic
Select item 687239	GRCh37/hg19 1q24.1(chr1:165989619-166951388)x1	FAM78B, ILDR2 +2 more	Copy number loss	not provided	GUncertain significance
Select item 625771	GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325)	ADCY10, ALDH9A1 +137 more	Copy number loss	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 395654	GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1	ABL2, ACBD6 +147 more	Copy number loss	See cases	GPathogenic
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC132088675, LOC132088682 +1585 more	Copy number gain	See cases	GPathogenic
Select item 155225	GRCh38/hg38 1q23.3-25.1(chr1:163382523-175877022)x1	ADCY10, ALDH9A1 +407 more	Copy number loss	See cases	GPathogenic
Select item 150235	GRCh38/hg38 1q24.1(chr1:166031546-166979276)x1	FAM78B, FAM78B-AS1 +33 more	Copy number loss	See cases	GUncertain significance
Select item 60045	GRCh38/hg38 1q24.1-25.1(chr1:166762832-175327423)x1	ADCY10, ANKRD45 +332 more	Copy number loss	See cases	GPathogenic
Select item 60043	GRCh38/hg38 1q23.3-24.2(chr1:162040050-167480663)x1	LOC129931815, LOC129931816 +151 more	Copy number loss	See cases	GPathogenic
Select item 60042	GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)x1	ADCY10, ALDH9A1 +406 more	Copy number loss	See cases	GPathogenic
Select item 58111	GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3	FAM163A, FAM20B +482 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 57465	GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1	ADAMTS4, ALDH9A1 +371 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 43