ClinVar for Gene (Select 10695) - ClinVar

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

Links from Gene

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3146655	NM_006586.5(CNPY3):c.22G>C (p.Ala8Pro)	CNPY3, CNPY3-GNMT (A8P +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3064682	NM_006586.5(CNPY3):c.646G>A (p.Gly216Arg)	CNPY3, CNPY3-GNMT (G127R +2 more)	Single nucleotide variant (missense variant +2 more)	Developmental and epileptic encephalopathy, 60	GUncertain significance
Select item 3062890	GRCh37/hg19 6p21.1(chr6:42882482-42911046)x1	CNPY3, PTCRA	Copy number loss	not specified	GUncertain significance
Select item 3060774	NM_006586.5(CNPY3):c.50TGC[8] (p.Leu25del)	CNPY3, CNPY3-GNMT (L22del +1 more)	Microsatellite (inframe deletion +3 more)	CNPY3-related disorder	GBenign
Select item 3052940	NM_006586.5(CNPY3):c.658G>A (p.Ala220Thr)	CNPY3, CNPY3-GNMT (A131T +2 more)	Single nucleotide variant (missense variant +2 more)	CNPY3-related disorder	GLikely benign
Select item 3047364	NM_006586.5(CNPY3):c.50TGC[10] (p.Leu25_Pro26insLeu)	CNPY3, CNPY3-GNMT	Microsatellite (inframe insertion +3 more)	CNPY3-related disorder	GLikely benign
Select item 3032401	NM_006586.5(CNPY3):c.774C>T (p.Pro258=)	CNPY3, CNPY3-GNMT	Single nucleotide variant (synonymous variant +2 more)	CNPY3-related disorder	GLikely benign
Select item 2601555	NM_006586.5(CNPY3):c.56T>C (p.Leu19Pro)	CNPY3, CNPY3-GNMT (L19P +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2582476	NM_006586.5(CNPY3):c.241G>T (p.Asp81Tyr)	CNPY3, CNPY3-GNMT (D81Y)	Single nucleotide variant (missense variant +2 more)	Developmental and epileptic encephalopathy, 60	GUncertain significance
Select item 2582320	NM_006586.5(CNPY3):c.50TGC[5] (p.Leu22_Leu25del)	CNPY3, CNPY3-GNMT	Microsatellite (inframe_deletion +3 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2527501	NM_006586.5(CNPY3):c.347G>C (p.Arg116Thr)	CNPY3, CNPY3-GNMT (R116T +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2502353	NM_006586.5(CNPY3):c.548del (p.Asn183fs)	CNPY3, CNPY3-GNMT (N183fs +2 more)	Deletion (frameshift variant +2 more)	Developmental and epileptic encephalopathy, 60	GPathogenic
Select item 2440172	NM_006586.5(CNPY3):c.275+1G>A	CNPY3-GNMT, CNPY3	Single nucleotide variant (splice donor variant +1 more)	Developmental and epileptic encephalopathy, 60	GUncertain significance
Select item 2424354	NC_000006.11:g.(?_42162409)_(44154249_?)del	MRPS18A, PEX6 +43 more	Deletion	not provided	GUncertain significance
Select item 2422887	NC_000006.11:g.(?_41126341)_(43737486_?)dup	ABCC10, BICRAL +57 more	Duplication	PRPH2-related disorder	GUncertain significance
Select item 2422814	NC_000006.11:g.(?_41126341)_(43752536_?)del	ABCC10, BICRAL +58 more	Deletion	Peroxisome biogenesis disorder	GPathogenic
Select item 2374475	NM_006586.5(CNPY3):c.352G>A (p.Gly118Ser)	CNPY3, CNPY3-GNMT (G118S +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2367744	NM_006586.5(CNPY3):c.68T>C (p.Leu23Pro)	CNPY3, CNPY3-GNMT (L23P +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2303923	NM_006586.5(CNPY3):c.799G>C (p.Ala267Pro)	CNPY3, CNPY3-GNMT (A267P +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2291104	NM_006586.5(CNPY3):c.74T>C (p.Leu25Pro)	CNPY3, CNPY3-GNMT (L25P +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2237376	NM_006586.5(CNPY3):c.691A>T (p.Ser231Cys)	CNPY3, CNPY3-GNMT (S264C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1805693	NM_006586.5(CNPY3):c.592G>A (p.Val198Met)	CNPY3, CNPY3-GNMT (V109M +2 more)	Single nucleotide variant (missense variant +2 more)	Developmental and epileptic encephalopathy, 60	GUncertain significance
Select item 1711628	NM_006586.5(CNPY3):c.711C>T (p.Gly237=)	CNPY3, CNPY3-GNMT	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1676017	NM_006586.5(CNPY3):c.582C>T (p.Cys194=)	CNPY3, CNPY3-GNMT	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1341007	GRCh37/hg19 6p21.1(chr6:42548155-43053728)x3	BICRAL, C6orf226 +16 more	Copy number gain	not provided	GUncertain significance
Select item 1190342	NM_006586.5(CNPY3):c.292G>A (p.Glu98Lys)	CNPY3, CNPY3-GNMT (E131K +2 more)	Single nucleotide variant (missense variant +3 more)	not specified +1 more	GUncertain significance
Select item 1032459	NM_006586.5(CNPY3):c.637G>A (p.Gly213Ser)	CNPY3-GNMT, CNPY3 (G246S +2 more)	Single nucleotide variant (missense variant +2 more)	Developmental and epileptic encephalopathy, 60	GUncertain significance
Select item 1030425	NM_006586.5(CNPY3):c.276-32G>A	CNPY3, CNPY3-GNMT (E115K)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 60	GUncertain significance
Select item 1028526	NM_006586.5(CNPY3):c.674A>G (p.Lys225Arg)	CNPY3, CNPY3-GNMT (K136R +2 more)	Single nucleotide variant (missense variant +2 more)	Developmental and epileptic encephalopathy, 60	GUncertain significance
Select item 1028525	NM_006586.5(CNPY3):c.199G>A (p.Gly67Ser)	CNPY3-GNMT, CNPY3 (G67S)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 1012777	NM_006586.5(CNPY3):c.243C>G (p.Asp81Glu)	CNPY3-GNMT, CNPY3 (D81E)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1012776	NM_006586.5(CNPY3):c.61C>T (p.Leu21=)	CNPY3-GNMT, CNPY3	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 932071	NM_006586.5(CNPY3):c.734_737del (p.Gln245fs)	CNPY3, CNPY3-GNMT (Q245fs +2 more)	Deletion (frameshift variant +2 more)	Developmental and epileptic encephalopathy, 60	GLikely pathogenic
Select item 870183	NM_006586.5(CNPY3):c.362G>A (p.Arg121Gln)	CNPY3-GNMT, CNPY3 (R154Q +2 more)	Single nucleotide variant (non-coding transcript variant +3 more)	Developmental and epileptic encephalopathy, 60	GUncertain significance
Select item 870182	NM_006586.5(CNPY3):c.628C>T (p.Gln210Ter)	CNPY3, CNPY3-GNMT (Q210* +2 more)	Single nucleotide variant (nonsense +2 more)	Developmental and epileptic encephalopathy, 60	GLikely pathogenic
Select item 833415	NC_000006.12:g.(?_42923027)_(42984704_?)dup	CNPY3, PEX6 +3 more	Duplication	Peroxisome biogenesis disorder	GUncertain significance
Select item 800988	NM_006586.5(CNPY3):c.496-3_496-2del	CNPY3, CNPY3-GNMT	Deletion (splice acceptor variant +1 more)	not specified	GLikely pathogenic
Select item 689003	GRCh37/hg19 6p21.1(chr6:42903316-42954083)x3	CNPY3, GNMT +2 more	Copy number gain	not provided	GUncertain significance
Select item 688846	GRCh37/hg19 6p21.1(chr6:42903316-42955264)x3	CNPY3, GNMT +2 more	Copy number gain	not provided	GUncertain significance
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	LRRC1, LRRC73 +427 more	Copy number gain	not provided	GPathogenic
Select item 518431	NM_006586.5(CNPY3):c.495+1G>A	CNPY3, CNPY3-GNMT	Single nucleotide variant (splice donor variant +1 more)	Developmental and epileptic encephalopathy, 60	GPathogenic
Select item 518430	NM_006586.5(CNPY3):c.702_720dup (p.Ser241delinsGlySerArgArgGlnGluTer)	CNPY3, CNPY3-GNMT	Duplication (nonsense +2 more)	Developmental and epileptic encephalopathy, 60	GPathogenic
Select item 518429	NM_006586.5(CNPY3):c.373G>C (p.Gly125Arg)	CNPY3, CNPY3-GNMT (G125R +2 more)	Single nucleotide variant (missense variant +2 more)	Developmental and epileptic encephalopathy, 60	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ANKRD66, C6orf201 +2580 more	Copy number gain	See cases	GPathogenic
Select item 58428	GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)x1	LOC123620117, LOC123620118 +324 more	Copy number loss	See cases	GPathogenic
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	AARS2, ABCC10 +435 more	Copy number loss	See cases	GPathogenic
Select item 57326	GRCh38/hg38 6p21.1(chr6:42368558-44590544)x1	LOC132089385, LOC132089386 +221 more	Copy number loss	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: 49