ClinVar for Gene (Select 8030) - ClinVar

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Links from Gene

Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3264236	NM_005436.5(CCDC6):c.822G>T (p.Lys274Asn)	CCDC6 (K274N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264235	NM_005436.5(CCDC6):c.590G>A (p.Arg197Gln)	CCDC6 (R197Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139231	NM_005436.5(CCDC6):c.843A>C (p.Leu281Phe)	CCDC6 (L281F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139230	NM_005436.5(CCDC6):c.716T>C (p.Val239Ala)	CCDC6 (V239A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139229	NM_005436.5(CCDC6):c.524T>G (p.Met175Arg)	CCDC6, LOC124403959 (M175R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139228	NM_005436.5(CCDC6):c.142G>A (p.Gly48Ser)	CCDC6, LOC130003859 (G48S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139227	NM_005436.5(CCDC6):c.1244G>A (p.Arg415Gln)	CCDC6 (R415Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063161	GRCh37/hg19 10q21.1-21.2(chr10:59447320-64201694)x1	ANK3, ARID5B +15 more	Copy number loss	not specified	GUncertain significance
Select item 3024687	NM_005436.5(CCDC6):c.1337C>T (p.Pro446Leu)	CCDC6 (P446L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3024480	NC_000010.11:g.(?_59792917)_(68231677_?)del	LOC124403968, LOC124403969 +220 more	Deletion	Intellectual developmental disorder, autosomal dominant 70	GLikely pathogenic
Select item 2685375	GRCh37/hg19 10q11.23-22.1(chr10:51735638-70791246)x1	A1CF, ADO +51 more	Copy number loss	not provided	GPathogenic
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2623517	NM_005436.5(CCDC6):c.1257T>A (p.Ser419Arg)	CCDC6 (S419R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610466	NM_005436.5(CCDC6):c.118G>A (p.Gly40Ser)	CCDC6 (G40S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608872	NM_005436.5(CCDC6):c.94G>A (p.Gly32Ser)	CCDC6, LOC130003860 (G32S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2539201	NM_005436.5(CCDC6):c.895G>C (p.Glu299Gln)	CCDC6 (E299Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391568	NM_005436.5(CCDC6):c.725C>T (p.Pro242Leu)	CCDC6 (P242L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362821	NM_005436.5(CCDC6):c.715G>A (p.Val239Ile)	CCDC6 (V239I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323239	NM_005436.5(CCDC6):c.1096A>C (p.Ile366Leu)	CCDC6 (I366L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322129	NM_005436.5(CCDC6):c.40G>T (p.Gly14Trp)	CCDC6, LOC130003860 (G14W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311944	NM_005436.5(CCDC6):c.893G>C (p.Arg298Thr)	CCDC6 (R298T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216655	NM_005436.5(CCDC6):c.37G>A (p.Ala13Thr)	CCDC6, LOC130003860 (A13T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808430	GRCh37/hg19 10q21.1-21.2(chr10:60870153-63790451)x1	ANK3, ARID5B +8 more	Copy number loss	not provided	GUncertain significance
Select item 1808195	GRCh37/hg19 10q21.1-21.3(chr10:57941252-64846332)x1	ADO, ANK3 +18 more	Copy number loss	not provided	GUncertain significance
Select item 815349	GRCh37/hg19 10q21.1-21.3(chr10:56031210-65660398)x1	MTRNR2L5, TMEM26 +23 more	Copy number loss	not provided	GPathogenic
Select item 815348	GRCh37/hg19 10q21.1-21.2(chr10:55589950-63990649)x1	ANK3, PCDH15 +17 more	Copy number loss	not provided	GPathogenic
Select item 815342	GRCh37/hg19 10q11.23-21.3(chr10:50250603-69256083)x1	TIMM23, C10orf71 +50 more	Copy number loss	not provided	GPathogenic
Select item 709698	NM_005436.5(CCDC6):c.462T>C (p.His154=)	CCDC6, LOC124403959	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 709697	NM_005436.5(CCDC6):c.616T>C (p.Leu206=)	CCDC6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 688024	GRCh37/hg19 10q21.1-21.2(chr10:59199424-62981900)x3	ANK3, BICC1 +10 more	Copy number gain	not provided	GUncertain significance
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 495230	NC_000010.10:g.43611191_61663279inv	CCDC6, ZNF32 +75 more	Inversion	Pediatric metastatic thyroid tumour	GLikely pathogenic
Select item 442208	GRCh37/hg19 10q21.1-21.2(chr10:57587928-64212007)x1	ANK3, ARID5B +16 more	Copy number loss	See cases	GLikely pathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 154900	GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3	A1CF, ADO +561 more	Copy number gain	See cases	GPathogenic
Select item 152646	GRCh38/hg38 10q21.1-21.3(chr10:55287177-67558442)x3	ADO, ANK3 +227 more	Copy number gain	See cases	GPathogenic
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 43