10695[geneid] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	LOC129996415, LOC129996416 +435 more	Copy number loss	See cases	GPathogenic
Select item 58428	GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)x1	LOC132089395, LOC132089396 +324 more	Copy number loss	See cases	GPathogenic
Select item 57326	GRCh38/hg38 6p21.1(chr6:42368558-44590544)x1	AARS2, ABCC10 +221 more	Copy number loss	See cases	GPathogenic
Select item 3146655	NM_006586.5(CNPY3):c.22G>C (p.Ala8Pro)	CNPY3-GNMT, CNPY3 (A8P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3252022	NM_006586.5(CNPY3):c.50TGC[14] (p.Leu25_Pro26insLeuLeuLeuLeuLeu)	CNPY3, CNPY3-GNMT	Microsatellite (inframe_insertion +2 more)	Developmental and epileptic encephalopathy, 60	GUncertain significance
Select item 3251627	NM_006586.5(CNPY3):c.50TGC[11] (p.Leu25_Pro26insLeuLeu)	CNPY3, CNPY3-GNMT	Microsatellite (inframe_insertion +2 more)	not specified	GUncertain significance
Select item 3047364	NM_006586.5(CNPY3):c.50TGC[10] (p.Leu25_Pro26insLeu)	CNPY3, CNPY3-GNMT	Microsatellite (inframe_insertion +2 more)	CNPY3-related disorder	GLikely benign
Select item 3060774	NM_006586.5(CNPY3):c.50TGC[8] (p.Leu25del)	CNPY3, CNPY3-GNMT (L25del)	Microsatellite (inframe_deletion +2 more)	CNPY3-related disorder	GBenign
Select item 2582320	NM_006586.5(CNPY3):c.50TGC[5] (p.Leu22_Leu25del)	CNPY3, CNPY3-GNMT	Microsatellite (inframe_deletion +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2601555	NM_006586.5(CNPY3):c.56T>C (p.Leu19Pro)	CNPY3, CNPY3-GNMT (L19P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1012776	NM_006586.5(CNPY3):c.61C>T (p.Leu21=)	CNPY3, CNPY3-GNMT	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2367744	NM_006586.5(CNPY3):c.68T>C (p.Leu23Pro)	CNPY3, CNPY3-GNMT (L23P)	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)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3268245	NM_006586.5(CNPY3):c.79G>A (p.Ala27Thr)	CNPY3, CNPY3-GNMT (A27T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3268247	NM_006586.5(CNPY3):c.115G>A (p.Glu39Lys)	CNPY3, CNPY3-GNMT (E39K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1028525	NM_006586.5(CNPY3):c.199G>A (p.Gly67Ser)	CNPY3, CNPY3-GNMT (G67S)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	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 1012777	NM_006586.5(CNPY3):c.243C>G (p.Asp81Glu)	CNPY3, CNPY3-GNMT (D81E)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3349695	NM_006586.5(CNPY3):c.275C>T (p.Ser92Leu)	CNPY3, CNPY3-GNMT (S92F +1 more)	Single nucleotide variant (missense variant +2 more)	CNPY3-related disorder	GUncertain significance
Select item 2440172	NM_006586.5(CNPY3):c.275+1G>A	CNPY3, CNPY3-GNMT	Single nucleotide variant (splice donor variant +1 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 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 3353926	NM_006586.5(CNPY3):c.317G>T (p.Arg106Met)	CNPY3, CNPY3-GNMT (R106M +2 more)	Single nucleotide variant (missense variant +3 more)	CNPY3-related disorder	GUncertain significance
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 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 870183	NM_006586.5(CNPY3):c.362G>A (p.Arg121Gln)	CNPY3-GNMT, CNPY3 (R154Q +2 more)	Single nucleotide variant (missense variant +3 more)	Developmental and epileptic encephalopathy, 60	GUncertain significance
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 518431	NM_006586.5(CNPY3):c.495+1G>A	CNPY3-GNMT, CNPY3	Single nucleotide variant (splice donor variant +1 more)	Developmental and epileptic encephalopathy, 60	GPathogenic
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 3268246	NM_006586.5(CNPY3):c.532G>C (p.Glu178Gln)	CNPY3, CNPY3-GNMT (E211Q +2 more)	Single nucleotide variant (missense variant +2 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 1676017	NM_006586.5(CNPY3):c.582C>T (p.Cys194=)	CNPY3-GNMT, CNPY3	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 3337925	NM_006586.5(CNPY3):c.613+6T>A	CNPY3, CNPY3-GNMT	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3251494	NM_006586.5(CNPY3):c.614-1G>A	CNPY3, CNPY3-GNMT	Single nucleotide variant (splice acceptor variant +1 more)	not specified	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 1032459	NM_006586.5(CNPY3):c.637G>A (p.Gly213Ser)	CNPY3, CNPY3-GNMT (G246S +2 more)	Single nucleotide variant (missense variant +2 more)	Developmental and epileptic encephalopathy, 60	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 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 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 2237376	NM_006586.5(CNPY3):c.691A>T (p.Ser231Cys)	CNPY3, CNPY3-GNMT (S264C +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
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 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 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 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 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 3062890	GRCh37/hg19 6p21.1(chr6:42882482-42911046)x1	CNPY3, PTCRA	Copy number loss	not specified	GUncertain significance
Select item 2424354	NC_000006.11:g.(?_42162409)_(44154249_?)del	ABCC10, BICRAL +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 1341007	GRCh37/hg19 6p21.1(chr6:42548155-43053728)x3	BICRAL, C6orf226 +16 more	Copy number gain	not provided	GUncertain significance
Select item 833415	NC_000006.12:g.(?_42923027)_(42984704_?)dup	CNPY3, GNMT +3 more	Duplication	Peroxisome biogenesis disorder	GUncertain significance
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)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic

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Items: 58