824[Gene ID] - ClinVar

Search results

Items: 99

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC129388734, LOC129388735 +723 more	Copy number gain	See cases	GPathogenic
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	LOC129932855, LOC129932856 +1168 more	Copy number gain	See cases	GPathogenic
Select item 146329	GRCh38/hg38 1q41(chr1:222676842-223882311)x1	AIDA, BROX +35 more	Copy number loss	See cases	GLikely pathogenic
Select item 147449	GRCh38/hg38 1q41-42.13(chr1:223347693-228556332)x1	ACBD3, ACBD3-AS1 +287 more	Copy number loss	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	TARBP1, TBCE +968 more	Copy number gain	See cases	GPathogenic
Select item 2611094	NM_001748.5(CAPN2):c.35G>C (p.Arg12Pro)	CAPN2 (R12P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278724	NM_001748.5(CAPN2):c.38A>C (p.Glu13Ala)	CAPN2 (E13A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481757	NM_001748.5(CAPN2):c.63C>A (p.His21Gln)	CAPN2 (H21Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494812	NM_001748.5(CAPN2):c.83T>C (p.Leu28Pro)	CAPN2 (L28P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 715900	NM_001748.5(CAPN2):c.144C>T (p.Asp48=)	CAPN2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2592156	NM_001748.5(CAPN2):c.167C>T (p.Ser56Leu)	CAPN2 (S56L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234182	NM_001748.5(CAPN2):c.193C>A (p.Pro65Thr)	CAPN2 (P65T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399220	NM_001748.5(CAPN2):c.215G>A (p.Gly72Asp)	CAPN2 (G72D)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 790811	NM_001748.5(CAPN2):c.235_237+11dup	CAPN2	Duplication (intron variant +1 more)	not provided	GBenign
Select item 2529296	NM_001748.5(CAPN2):c.266T>C (p.Ile89Thr)	CAPN2 (I89T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 151450	GRCh38/hg38 1q41(chr1:223742902-223749425)x3	CAPN2, LOC122152305	Copy number gain	See cases	GLikely benign
Select item 2588964	NM_001748.5(CAPN2):c.343A>G (p.Thr115Ala)	CAPN2 (T115A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243777	NM_001748.5(CAPN2):c.400A>G (p.Asn134Asp)	CAPN2 (N56D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137152	NM_001748.5(CAPN2):c.416T>C (p.Phe139Ser)	CAPN2 (F139S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719166	NM_001748.5(CAPN2):c.550G>A (p.Ala184Thr)	CAPN2 (A106T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3137153	NM_001748.5(CAPN2):c.554A>G (p.Tyr185Cys)	CAPN2 (Y107C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230951	NM_001748.5(CAPN2):c.568G>A (p.Gly190Arg)	CAPN2 (G112R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137155	NM_001748.5(CAPN2):c.580G>T (p.Ala194Ser)	CAPN2 (A116S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639920	NM_001748.5(CAPN2):c.585A>G (p.Leu195=)	CAPN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2465963	NM_001748.5(CAPN2):c.602C>G (p.Thr201Ser)	CAPN2 (T201S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137156	NM_001748.5(CAPN2):c.613G>A (p.Glu205Lys)	CAPN2 (E127K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 146036	GRCh38/hg38 1q41-42.12(chr1:223749425-224604271)x1	CAPN2, CNIH3 +40 more	Copy number loss	See cases	GUncertain significance
Select item 2477039	NM_001748.5(CAPN2):c.848G>C (p.Arg283Pro)	CAPN2 (R205P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468747	NM_001748.5(CAPN2):c.850A>G (p.Ile284Val)	CAPN2 (I284V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137157	NM_001748.5(CAPN2):c.859C>G (p.Pro287Ala)	CAPN2 (P209A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263212	NM_001748.5(CAPN2):c.881C>T (p.Thr294Ile)	CAPN2 (T216I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328749	NM_001748.5(CAPN2):c.897C>A (p.Asp299Glu)	CAPN2 (D221E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263215	NM_001748.5(CAPN2):c.902G>T (p.Cys301Phe)	CAPN2 (C301F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137159	NM_001748.5(CAPN2):c.932A>G (p.Glu311Gly)	CAPN2 (E311G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398157	NM_001748.5(CAPN2):c.1001A>T (p.His334Leu)	CAPN2, LOC126806028 (H256L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263214	NM_001748.5(CAPN2):c.1004A>G (p.Tyr335Cys)	CAPN2, LOC126806028 (Y257C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717138	NM_001748.5(CAPN2):c.1044C>T (p.Leu348=)	CAPN2, LOC126806028	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2258278	NM_001748.5(CAPN2):c.1083G>A (p.Met361Ile)	CAPN2, LOC126806028 (M283I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590419	NM_001748.5(CAPN2):c.1100G>A (p.Arg367Gln)	CAPN2, LOC126806028 (R367Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487198	NM_001748.5(CAPN2):c.1114G>A (p.Gly372Arg)	CAPN2, LOC126806028 (G294R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349615	NM_001748.5(CAPN2):c.1192G>A (p.Glu398Lys)	CAPN2 (E320K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508927	NM_001748.5(CAPN2):c.1274A>T (p.Asp425Val)	CAPN2 (D425V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285694	NM_001748.5(CAPN2):c.1328A>G (p.Gln443Arg)	CAPN2 (Q365R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345651	NM_001748.5(CAPN2):c.1353C>G (p.Asn451Lys)	CAPN2 (N373K +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2513847	NM_001748.5(CAPN2):c.1406G>A (p.Arg469Gln)	CAPN2 (R469Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303021	NM_001748.5(CAPN2):c.1420C>T (p.Arg474Cys)	CAPN2 (R474C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263211	NM_001748.5(CAPN2):c.1441G>C (p.Glu481Gln)	CAPN2 (E403Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263210	NM_001748.5(CAPN2):c.1556A>G (p.Asn519Ser)	CAPN2 (N441S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393152	NM_001748.5(CAPN2):c.1589T>C (p.Ile530Thr)	CAPN2 (I452T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137146	NM_001748.5(CAPN2):c.1651T>G (p.Phe551Val)	CAPN2 (F473V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330530	NM_001748.5(CAPN2):c.1724A>T (p.Glu575Val)	CAPN2 (E497V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265169	NM_001748.5(CAPN2):c.1739T>C (p.Met580Thr)	CAPN2 (M580T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386097	NM_001748.5(CAPN2):c.1757C>T (p.Ser586Leu)	CAPN2 (S508L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137147	NM_001748.5(CAPN2):c.1805C>T (p.Thr602Met)	CAPN2 (T524M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137148	NM_001748.5(CAPN2):c.1810A>T (p.Ile604Phe)	CAPN2 (I604F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623440	NM_001748.5(CAPN2):c.1811T>C (p.Ile604Thr)	CAPN2 (I526T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277067	NM_001748.5(CAPN2):c.1846G>A (p.Val616Ile)	CAPN2 (V616I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606220	NM_001748.5(CAPN2):c.1852A>G (p.Arg618Gly)	CAPN2 (R618G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137149	NM_001748.5(CAPN2):c.1883G>A (p.Arg628Gln)	CAPN2 (R550Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207109	NM_001748.5(CAPN2):c.1898A>C (p.Glu633Ala)	CAPN2 (E555A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261708	NM_001748.5(CAPN2):c.1913T>C (p.Met638Thr)	CAPN2 (M560T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137150	NM_001748.5(CAPN2):c.1936A>G (p.Ile646Val)	CAPN2 (I646V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362600	NM_001748.5(CAPN2):c.1940T>C (p.Val647Ala)	CAPN2 (V569A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263216	NM_001748.5(CAPN2):c.1972G>C (p.Asp658His)	CAPN2 (D580H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230360	NM_001748.5(CAPN2):c.1991G>A (p.Arg664Gln)	CAPN2 (R664Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137151	NM_001748.5(CAPN2):c.2003G>A (p.Arg668Gln)	CAPN2 (R590Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512626	NM_001748.5(CAPN2):c.2015T>C (p.Leu672Pro)	CAPN2 (L594P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263213	NM_001748.5(CAPN2):c.2024T>G (p.Ile675Arg)	CAPN2 (I675R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456882	NM_001748.5(CAPN2):c.2027T>C (p.Phe676Ser)	CAPN2 (F676S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783017	NM_001748.5(CAPN2):c.2029A>C (p.Lys677Gln)	CAPN2 (K599Q +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2211317	NM_001748.5(CAPN2):c.2039A>G (p.Asp680Gly)	CAPN2 (D602G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 758921	NM_001748.5(CAPN2):c.2067C>T (p.Leu689=)	CAPN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2252865	NM_001748.5(CAPN2):c.2074A>G (p.Ile692Val)	CAPN2 (I614V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148877	GRCh37/hg19 1q41-42.12(chr1:216147522-226765691)x1	ACBD3, AIDA +53 more	Copy number loss	not provided	GPathogenic
Select item 3062480	GRCh37/hg19 1q41(chr1:222698623-224065782)x3	AIDA, BROX +11 more	Copy number gain	not specified	GUncertain significance
Select item 2685843	GRCh37/hg19 1q41-42.11(chr1:222641390-224104993)x1	AIDA, BROX +11 more	Copy number loss	not provided	GUncertain significance
Select item 1809014	GRCh37/hg19 1q41-42.12(chr1:221325488-225804228)x1	AIDA, BROX +21 more	Copy number loss	not provided	GUncertain significance
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1527559	GRCh37/hg19 1q41-42.13(chr1:221303919-227461343)	ACBD3, AIDA +38 more	Copy number gain	not specified	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 997085	GRCh37/hg19 1q41-42.12(chr1:223552998-224761890)	CCDC185, CNIH4 +7 more	Copy number loss	Global developmental delay	GPathogenic
Select item 979934	GRCh37/hg19 1q41-42.12(chr1:222605125-224696628)x1	TLR5, DEGS1 +16 more	Copy number loss	not provided	GPathogenic
Select item 929379	GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3	CHML, CHRM3 +250 more	Copy number gain	See cases	GPathogenic
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 814168	GRCh37/hg19 1q41-42.2(chr1:223653722-234591807)x1	FBXO28, ACBD3 +83 more	Copy number loss	not provided	GPathogenic
Select item 814166	GRCh37/hg19 1q41-42.13(chr1:222641389-228137574)x1	PSEN2, FBXO28 +42 more	Copy number loss	not provided	GPathogenic
Select item 814163	GRCh37/hg19 1q41-43(chr1:219916966-239004378)x3	CCDC185, NTPCR +127 more	Copy number gain	not provided	GPathogenic
Select item 814162	GRCh37/hg19 1q41-42.11(chr1:219734913-224104993)x1	BROX, HHIPL2 +24 more	Copy number loss	not provided	GPathogenic
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 565225	GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3	H2BC26, H3-3A +213 more	Copy number gain	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	AVPR1B, B3GALNT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic

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Items: 99