ClinVar for Gene (Select 892) - ClinVar

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Links from Gene

Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3264538	NM_005190.4(CCNC):c.272T>G (p.Val91Gly)	CCNC, TSTD3 (V91G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264537	NM_005190.4(CCNC):c.73C>T (p.Arg25Cys)	CCNC, TSTD3 (R25C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3139895	NM_005190.4(CCNC):c.766A>C (p.Lys256Gln)	CCNC, TSTD3 (K171Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139894	NM_005190.4(CCNC):c.627G>T (p.Gln209His)	CCNC, TSTD3 (Q209H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139893	NM_005190.4(CCNC):c.365A>T (p.Tyr122Phe)	CCNC, TSTD3 (Y37F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139892	NM_005190.4(CCNC):c.343G>A (p.Val115Ile)	CCNC, TSTD3 (V30I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139891	NM_005190.4(CCNC):c.226T>G (p.Tyr76Asp)	CCNC, TSTD3 (Y76D)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3139890	NM_005190.4(CCNC):c.218A>G (p.Tyr73Cys)	CCNC, TSTD3 (Y73C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3062939	GRCh37/hg19 6q15-16.3(chr6:91677067-101879124)x3	ASCC3, CCNC +20 more	Copy number gain	not specified	GUncertain significance
Select item 2685211	GRCh37/hg19 6q15-21(chr6:92468126-109410569)x1	AFG1L, ARMC2 +43 more	Copy number loss	not provided	GPathogenic
Select item 2238024	NM_005190.4(CCNC):c.754A>G (p.Thr252Ala)	CCNC, TSTD3 (T167A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807838	GRCh37/hg19 6q16.1-21(chr6:96596732-105554568)x1	ASCC3, BVES +21 more	Copy number loss	not provided	GPathogenic
Select item 1807814	GRCh37/hg19 6q16.1-21(chr6:96946110-106497526)x1	ASCC3, BVES +22 more	Copy number loss	not provided	GPathogenic
Select item 1527267	GRCh37/hg19 6q15-16.3(chr6:92576950-104658245)	ASCC3, CCNC +20 more	Copy number loss	not specified	GPathogenic
Select item 1527266	GRCh37/hg19 6q15-22.2(chr6:92054891-118329651)	AFG1L, AK9 +98 more	Copy number loss	not specified	GPathogenic
Select item 1527263	GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)	AFG1L, AK9 +138 more	Copy number loss	not specified	GPathogenic
Select item 981211	GRCh37/hg19 6q16.1-21(chr6:98949950-114533905)x1	PREP, QRSL1 +66 more	Copy number loss	Deletion 6q16 q21	GPathogenic
Select item 832033	NC_000006.12:g.(?_99549508)_(99614759_?)dup	CCNC, PRDM13	Duplication	not provided	GUncertain significance
Select item 830464	NC_000006.12:g.(?_99562842)_(99614759_?)dup	CCNC, PRDM13	Duplication	not provided	GUncertain significance
Select item 814851	GRCh37/hg19 6q16.1-16.2(chr6:98870687-100270433)x1	CCNC, COQ3 +7 more	Copy number loss	not provided	GLikely pathogenic
Select item 805963	NM_005190.4(CCNC):c.346+77dup	CCNC, TSTD3	Duplication (intron variant)	CIC-rearranged sarcoma	Gnot provided
Select item 685975	GRCh37/hg19 6q16.1-16.2(chr6:99158119-100269911)x1	FAXC, FBXL4 +7 more	Copy number loss	not provided	GUncertain significance
Select item 563210	GRCh37/hg19 6q16.2(chr6:99651077-100126178)x3	COQ3, FAXC +5 more	Copy number gain	not provided	GUncertain significance
Select item 563204	GRCh37/hg19 6q16.1-22.1(chr6:95549951-116684929)x1	AFG1L, AK9 +80 more	Copy number loss	not provided	GPathogenic
Select item 560106	Single allele	COQ3, FAXC +28 more	Deletion	not provided	GUncertain significance
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
Select item 443296	GRCh37/hg19 6q16.1-21(chr6:94202605-109878834)x1	ZBTB24, AFG1L +49 more	Copy number loss	See cases	GPathogenic
Select item 442063	GRCh37/hg19 6q16.1-21(chr6:97384446-110247755)x1	AFG1L, AK9 +44 more	Copy number loss	See cases	GPathogenic
Select item 154571	GRCh38/hg38 6q16.1-16.2(chr6:98770647-99813111)x1	CCNC, COQ3 +38 more	Copy number loss	See cases	GUncertain significance
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150641	GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1	AFG1L, AK9 +558 more	Copy number loss	See cases	GPathogenic
Select item 58440	GRCh38/hg38 6q16.1-16.3(chr6:98668529-101266950)x1	ASCC3, CCNC +53 more	Copy number loss	See cases	GPathogenic
Select item 58439	GRCh38/hg38 6q16.1-16.3(chr6:97853776-102580597)x1	ASCC3, CCNC +68 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 34