CSRNP3[gene] - ClinVar

Search results

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154177	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	LOC129935011, LOC129935012 +530 more	Copy number gain	See cases	GPathogenic
Select item 59150	GRCh38/hg38 2q24.1-24.3(chr2:154366788-167048902)x3	ACVR1, ACVR1C +275 more	Copy number gain	See cases	GPathogenic
Select item 57318	GRCh38/hg38 2q24.1-24.3(chr2:158382388-166605758)x1	BAZ2B, BAZ2B-AS1 +197 more	Copy number loss	See cases	GPathogenic
Select item 148507	GRCh38/hg38 2q24.3(chr2:163419387-165682938)x1	COBLL1, CSRNP3 +26 more	Copy number loss	See cases	GLikely pathogenic
Select item 60245	GRCh38/hg38 2q24.3(chr2:163455290-166962322)x1	COBLL1, CSRNP3 +38 more	Copy number loss	See cases	GPathogenic
Select item 60248	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	ABCB11, AGPS +488 more	Copy number loss	See cases	GPathogenic
Select item 60249	GRCh38/hg38 2q24.3-31.1(chr2:164066038-172097886)x1	LOC129935070, LOC129935071 +162 more	Copy number loss	See cases	GPathogenic
Select item 57491	GRCh38/hg38 2q24.3-31.1(chr2:164850117-175559190)x1	ABCB11, ATF2 +269 more	Copy number loss	See cases	GPathogenic
Select item 144471	GRCh38/hg38 2q24.3(chr2:164920562-167536439)x3	B3GALT1, CSRNP3 +25 more	Copy number gain	See cases	GPathogenic
Select item 153729	GRCh38/hg38 2q24.3(chr2:164941760-165764726)x3	CSRNP3, GALNT3 +9 more	Copy number gain	See cases	GLikely pathogenic
Select item 1707403	GRCh38/hg38 2q24.3(chr2:165155128-166062451)x1	CSRNP3, GALNT3 +15 more	Copy number loss	Epilepsy of infancy with migrating focal seizures	GPathogenic
Select item 652948	NC_000002.12:g.(?_165090130)_(166286643_?)del	GALNT3, LOC100506124 +17 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts +2 more	GPathogenic
Select item 651833	NC_000002.12:g.(?_165090130)_(166311776_?)del	CSRNP3, GALNT3 +17 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 530654	NC_000002.12:g.(?_165090130)_(166228992_?)del	CSRNP3, GALNT3 +17 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts +2 more	GPathogenic
Select item 155321	GRCh38/hg38 2q24.3(chr2:165222998-166664612)x1	CSRNP3, GALNT3 +16 more	Copy number loss	See cases	GPathogenic
Select item 153359	GRCh38/hg38 2q24.3(chr2:165238425-166114982)x1	CSRNP3, GALNT3 +14 more	Copy number loss	See cases	GPathogenic
Select item 1707404	GRCh38/hg38 2q24.3(chr2:165383106-167432622)x1	B3GALT1, CSRNP3 +22 more	Copy number loss	West syndrome	GPathogenic
Select item 655230	NC_000002.11:g.(?_166152314)_(167108415_?)dup	CSRNP3, LOC102724058 +14 more	Duplication	Neuropathy, hereditary sensory and autonomic, type 2A +2 more	GUncertain significance
Select item 146138	GRCh38/hg38 2q24.3(chr2:165542113-166137050)x3	CSRNP3, GALNT3 +11 more	Copy number gain	See cases	GUncertain significance
Select item 58906	GRCh38/hg38 2q24.3(chr2:165542962-166152073)x3	CSRNP3, GALNT3 +11 more	Copy number gain	See cases	GUncertain significance
Select item 3078385	NM_001172173.2(CSRNP3):c.40G>A (p.Gly14Ser)	CSRNP3, LOC129935044 (G14S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607009	NM_001172173.2(CSRNP3):c.58T>C (p.Ser20Pro)	CSRNP3 (S20P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078384	NM_001172173.2(CSRNP3):c.289C>T (p.Arg97Cys)	CSRNP3 (R97C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269941	NM_001172173.2(CSRNP3):c.301G>A (p.Val101Met)	CSRNP3 (V101M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523555	NM_001172173.2(CSRNP3):c.452T>C (p.Leu151Pro)	CSRNP3 (L151P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333681	NM_001172173.2(CSRNP3):c.493A>G (p.Asn165Asp)	CSRNP3 (N165D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357734	NM_001172173.2(CSRNP3):c.509A>C (p.Glu170Ala)	CSRNP3 (E170A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544069	NM_001172173.2(CSRNP3):c.688G>A (p.Ala230Thr)	CSRNP3 (A230T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078386	NM_001172173.2(CSRNP3):c.852A>C (p.Gln284His)	CSRNP3 (Q284H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515901	NM_001172173.2(CSRNP3):c.886A>G (p.Ser296Gly)	CSRNP3 (S296G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078387	NM_001172173.2(CSRNP3):c.916G>A (p.Ala306Thr)	CSRNP3 (A306T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470416	NM_001172173.2(CSRNP3):c.955A>G (p.Ile319Val)	CSRNP3 (I319V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284855	NM_001172173.2(CSRNP3):c.976G>T (p.Ala326Ser)	CSRNP3 (A326S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269943	NM_001172173.2(CSRNP3):c.997G>T (p.Ala333Ser)	CSRNP3 (A333S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269942	NM_001172173.2(CSRNP3):c.1010A>G (p.Asp337Gly)	CSRNP3 (D337G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078379	NM_001172173.2(CSRNP3):c.1041G>C (p.Glu347Asp)	CSRNP3 (E347D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731512	NM_001172173.2(CSRNP3):c.1083G>A (p.Thr361=)	CSRNP3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2651494	NM_001172173.2(CSRNP3):c.1164C>T (p.Asp388=)	CSRNP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2258546	NM_001172173.2(CSRNP3):c.1177T>C (p.Phe393Leu)	CSRNP3 (F393L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221752	NM_001172173.2(CSRNP3):c.1187G>A (p.Gly396Asp)	CSRNP3 (G396D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376510	NM_001172173.2(CSRNP3):c.1207G>C (p.Val403Leu)	CSRNP3 (V403L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466838	NM_001172173.2(CSRNP3):c.1210G>T (p.Val404Phe)	CSRNP3 (V404F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531180	NM_001172173.2(CSRNP3):c.1225G>C (p.Val409Leu)	CSRNP3 (V409L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078381	NM_001172173.2(CSRNP3):c.1226T>G (p.Val409Gly)	CSRNP3 (V409G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 721230	NM_001172173.2(CSRNP3):c.1251C>A (p.Ala417=)	CSRNP3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3269939	NM_001172173.2(CSRNP3):c.1258G>A (p.Glu420Lys)	CSRNP3 (E420K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479465	NM_001172173.2(CSRNP3):c.1291A>C (p.Asn431His)	CSRNP3 (N431H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078382	NM_001172173.2(CSRNP3):c.1347G>T (p.Gln449His)	CSRNP3 (Q449H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078383	NM_001172173.2(CSRNP3):c.1370G>A (p.Arg457Lys)	CSRNP3 (R457K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335105	NM_001172173.2(CSRNP3):c.1375A>C (p.Thr459Pro)	CSRNP3 (T459P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531182	NM_001172173.2(CSRNP3):c.1445G>A (p.Arg482Gln)	CSRNP3 (R482Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371842	NM_001172173.2(CSRNP3):c.1541C>T (p.Pro514Leu)	CSRNP3 (P514L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269940	NM_001172173.2(CSRNP3):c.1567A>G (p.Arg523Gly)	CSRNP3 (R523G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269944	NM_001172173.2(CSRNP3):c.1676A>G (p.Glu559Gly)	CSRNP3 (E559G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304432	NM_001172173.2(CSRNP3):c.1703G>A (p.Ser568Asn)	CSRNP3 (S568N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062662	GRCh37/hg19 2q24.3-31.1(chr2:165813403-169865235)x1	ABCB11, B3GALT1 +14 more	Copy number loss	not specified	GPathogenic
Select item 3062617	GRCh37/hg19 2q24.2-31.1(chr2:162692199-174452488)x1	ABCB11, B3GALT1 +57 more	Copy number loss	not specified	GPathogenic
Select item 2424589	NC_000002.11:g.(?_166210682)_(167168266_?)dup	CSRNP3, GALNT3 +4 more	Duplication	Neuropathy, hereditary sensory and autonomic, type 2A +3 more	GUncertain significance
Select item 2424587	NC_000002.11:g.(?_165946660)_(167108415_?)del	CSRNP3, GALNT3 +5 more	Deletion	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GPathogenic
Select item 2423911	NC_000002.11:g.(?_165946660)_(166894662_?)dup	CSRNP3, GALNT3 +4 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526930	GRCh37/hg19 2q24.3(chr2:165794558-166633875)	CSRNP3, GALNT3 +3 more	Copy number gain	not specified	GPathogenic
Select item 1526929	GRCh37/hg19 2q24.3(chr2:165428510-166888012)	COBLL1, CSRNP3 +7 more	Copy number loss	not specified	GPathogenic
Select item 1526927	GRCh37/hg19 2q24.2-24.3(chr2:163168812-167567296)	COBLL1, CSRNP3 +13 more	Copy number gain	not specified	GPathogenic
Select item 1526925	GRCh37/hg19 2q24.2-24.3(chr2:161551326-167762790)	COBLL1, CSRNP3 +21 more	Copy number loss	not specified	GPathogenic
Select item 1459193	NC_000002.11:g.(?_166210682)_(167168266_?)del	CSRNP3, GALNT3 +4 more	Deletion	Seizures, benign familial infantile, 3 +1 more	GPathogenic
Select item 1410299	NC_000002.11:g.(?_165946660)_(166898954_?)dup	CSRNP3, GALNT3 +4 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1340267	GRCh37/hg19 2q24.3(chr2:166322207-166374955)x1	CSRNP3	Copy number loss	not provided	GUncertain significance
Select item 1339653	GRCh37/hg19 2q24.2-31.1(chr2:160347642-174075851)x1	METTL8, PSMD14 +67 more	Copy number loss	2q24 microdeletion syndrome	GPathogenic
Select item 1330194	GRCh37/hg19 2q24.3(chr2:166152284-167760450)x1	CSRNP3, GALNT3 +6 more	Copy number loss	Severe myoclonic epilepsy in infancy	GPathogenic
Select item 1054402	NC_000002.11:g.(?_165946660)_(167168266_?)del	GALNT3, SCN1A +5 more	Deletion	Jeune thoracic dystrophy +1 more	GPathogenic
Select item 997058	GRCh37/hg19 2q24.3(chr2:165903672-166666206)	CSRNP3, GALNT3 +2 more	Copy number gain	Transverse facial cleft +3 more	GPathogenic
Select item 984751	GRCh37/hg19 2q24.3(chr2:166060478-166349787)x1	CSRNP3, SCN2A +1 more	Copy number loss	Complex neurodevelopmental disorder	GPathogenic
Select item 981210	GRCh37/hg19 2q24.2-31.3(chr2:163078055-182119617)x1	ABCB11, AGPS +97 more	Copy number loss	2q24 microdeletion syndrome	GPathogenic
Select item 980603	GRCh37/hg19 2q24.3(chr2:166177293-166439804)x1	SCN2A, CSRNP3	Copy number loss	not provided	GPathogenic
Select item 979385	GRCh37/hg19 2q24.3(chr2:166471756-166750528)x1	TTC21B, CSRNP3 +1 more	Copy number loss	not provided	GUncertain significance
Select item 833358	NC_000002.12:g.(?_165112865)_(166311776_?)dup	CSRNP3, GALNT3 +5 more	Duplication	not provided	GUncertain significance
Select item 833051	NC_000002.12:g.(?_165295804)_(166311776_?)dup	CSRNP3, GALNT3 +4 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 831785	NC_000002.12:g.(?_165090130)_(166311776_?)dup	CSRNP3, GALNT3 +5 more	Duplication	Developmental and epileptic encephalopathy, 11 +1 more	GUncertain significance
Select item 830392	NC_000002.12:g.(?_165090130)_(166204484_?)del	CSRNP3, GALNT3 +5 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 814341	GRCh37/hg19 2q24.3(chr2:166338194-167854823)x3	GALNT3, XIRP2 +5 more	Copy number gain	not provided	GUncertain significance
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 813715	GRCh37/hg19 2q24.3(chr2:166340583-166904859)	SCN1A, CSRNP3 +2 more	Copy number loss	Microcephaly	GPathogenic
Select item 687153	GRCh37/hg19 2q24.3(chr2:166352316-166433432)x3	CSRNP3	Copy number gain	not provided	GUncertain significance
Select item 635920	Single allele	CSRNP3, GALNT3 +2 more	Deletion	Epilepsy	GPathogenic
Select item 626293	Single allele	COBLL1, CSRNP3 +18 more	Deletion	not provided	GPathogenic
Select item 562604	GRCh37/hg19 2q24.3(chr2:166395880-167016281)x3	GALNT3, SCN1A +2 more	Copy number gain	not provided	GUncertain significance
Select item 562536	GRCh37/hg19 2q24.3(chr2:166433431-166612343)x1	CSRNP3, GALNT3	Copy number loss	not provided	GUncertain significance
Select item 523163	GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1	CCDC74B, CCDC93 +218 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 493569	GRCh37/hg19 2q24.3-31.1(chr2:165173620-169779326)x1	CSRNP3, G6PC2 +16 more	Copy number loss	not provided	GLikely pathogenic
Select item 444847	GRCh37/hg19 2q24.3(chr2:166221754-166646820)x1	CSRNP3, GALNT3 +1 more	Copy number loss	not provided	GLikely pathogenic
Select item 443473	GRCh37/hg19 2q24.1-24.3(chr2:157970774-169270675)x1	ACVR1, ACVR1C +42 more	Copy number loss	See cases	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442768	GRCh37/hg19 2q24.3(chr2:166032047-168283204)x1	CSRNP3, GALNT3 +7 more	Copy number loss	See cases	GPathogenic
Select item 442713	GRCh37/hg19 2q24.3(chr2:165065255-166517749)	COBLL1, CSRNP3 +4 more	Copy number gain	See cases	GLikely pathogenic
Select item 442551	GRCh37/hg19 2q24.3(chr2:166374955-169671203)x1	B3GALT1, CERS6 +9 more	Copy number loss	See cases	GPathogenic
Select item 442396	GRCh37/hg19 2q24.3(chr2:164366067-169069454)x1	B3GALT1, COBLL1 +13 more	Copy number loss	See cases	GPathogenic
Select item 253660	GRCh37/hg19 2q24.3(chr2:166094617-166931348)x3	SCN2A, GALNT3 +3 more	Copy number gain	See cases	GPathogenic
Select item 253638	GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3	ABCB11, ACVR1 +129 more	Copy number gain	See cases	GPathogenic

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Items: 100