ClinVar for Gene (Select 80034) - ClinVar

Links from Gene

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 3269941	NM_001172173.2(CSRNP3):c.301G>A (p.Val101Met)	CSRNP3 (V101M)	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 3269939	NM_001172173.2(CSRNP3):c.1258G>A (p.Glu420Lys)	CSRNP3 (E420K)	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 3078386	NM_001172173.2(CSRNP3):c.852A>C (p.Gln284His)	CSRNP3 (Q284H)	Single nucleotide variant (missense variant)	not specified	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 3078384	NM_001172173.2(CSRNP3):c.289C>T (p.Arg97Cys)	CSRNP3 (R97C)	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 3078382	NM_001172173.2(CSRNP3):c.1347G>T (p.Gln449His)	CSRNP3 (Q449H)	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 3078379	NM_001172173.2(CSRNP3):c.1041G>C (p.Glu347Asp)	CSRNP3 (E347D)	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 2651494	NM_001172173.2(CSRNP3):c.1164C>T (p.Asp388=)	CSRNP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2544069	NM_001172173.2(CSRNP3):c.688G>A (p.Ala230Thr)	CSRNP3 (A230T)	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 2531180	NM_001172173.2(CSRNP3):c.1225G>C (p.Val409Leu)	CSRNP3 (V409L)	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 2515901	NM_001172173.2(CSRNP3):c.886A>G (p.Ser296Gly)	CSRNP3 (S296G)	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 2470416	NM_001172173.2(CSRNP3):c.955A>G (p.Ile319Val)	CSRNP3 (I319V)	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 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 2376510	NM_001172173.2(CSRNP3):c.1207G>C (p.Val403Leu)	CSRNP3 (V403L)	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 2357734	NM_001172173.2(CSRNP3):c.509A>C (p.Glu170Ala)	CSRNP3 (E170A)	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 2333681	NM_001172173.2(CSRNP3):c.493A>G (p.Asn165Asp)	CSRNP3 (N165D)	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 2284855	NM_001172173.2(CSRNP3):c.976G>T (p.Ala326Ser)	CSRNP3 (A326S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1707404	GRCh38/hg38 2q24.3(chr2:165383106-167432622)x1	B3GALT1, CSRNP3 +22 more	Copy number loss	West syndrome	GPathogenic
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 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 731512	NM_001172173.2(CSRNP3):c.1083G>A (p.Thr361=)	CSRNP3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 721230	NM_001172173.2(CSRNP3):c.1251C>A (p.Ala417=)	CSRNP3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 687153	GRCh37/hg19 2q24.3(chr2:166352316-166433432)x3	CSRNP3	Copy number gain	not provided	GUncertain significance
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 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 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 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 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
Select item 155321	GRCh38/hg38 2q24.3(chr2:165222998-166664612)x1	CSRNP3, GALNT3 +16 more	Copy number loss	See cases	GPathogenic
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 153729	GRCh38/hg38 2q24.3(chr2:164941760-165764726)x3	CSRNP3, GALNT3 +9 more	Copy number gain	See cases	GLikely pathogenic
Select item 153359	GRCh38/hg38 2q24.3(chr2:165238425-166114982)x1	CSRNP3, GALNT3 +14 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 146138	GRCh38/hg38 2q24.3(chr2:165542113-166137050)x3	CSRNP3, GALNT3 +11 more	Copy number gain	See cases	GUncertain significance
Select item 144471	GRCh38/hg38 2q24.3(chr2:164920562-167536439)x3	B3GALT1, CSRNP3 +25 more	Copy number gain	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 60248	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	ABCB11, AGPS +488 more	Copy number loss	See cases	GPathogenic
Select item 60245	GRCh38/hg38 2q24.3(chr2:163455290-166962322)x1	COBLL1, CSRNP3 +38 more	Copy number loss	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 58906	GRCh38/hg38 2q24.3(chr2:165542962-166152073)x3	CSRNP3, GALNT3 +11 more	Copy number gain	See cases	GUncertain significance
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 57318	GRCh38/hg38 2q24.1-24.3(chr2:158382388-166605758)x1	BAZ2B, BAZ2B-AS1 +197 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: 100