CCDC14[gene] - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	LOC129937446, LOC129937447 +1343 more	Copy number gain	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	ABHD10, ABI3BP +681 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC129937268, LOC129937269 +2645 more	Copy number gain	See cases	GPathogenic
Select item 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	ABTB1, ADCY5 +570 more	Copy number loss	See cases	GPathogenic
Select item 153722	GRCh38/hg38 3q13.31-21.2(chr3:114122562-124532374)x1	ADCY5, ADPRH +286 more	Copy number loss	See cases	GPathogenic
Select item 155628	GRCh38/hg38 3q13.32-21.3(chr3:118673898-126540730)x1	ADCY5, ADPRH +326 more	Copy number loss	See cases	GPathogenic
Select item 57806	GRCh38/hg38 3q13.32-21.2(chr3:119117166-125920734)x1	LOC126806792, LOC126806793 +291 more	Copy number loss	See cases	GPathogenic
Select item 57829	GRCh38/hg38 3q13.33-21.2(chr3:121644209-125676353)x1	ADCY5, CASR +182 more	Copy number loss	See cases	GPathogenic
Select item 152210	GRCh38/hg38 3q13.33-21.3(chr3:121925147-126782249)x1	ADCY5, ALDH1L1 +214 more	Copy number loss	See cases	GPathogenic
Select item 155562	GRCh38/hg38 3q21.1(chr3:123844472-123900064)x1	CCDC14, LOC129389125 +2 more	Copy number loss	See cases	GLikely pathogenic
Select item 2262958	NM_001366335.1(CCDC14):c.2616C>G (p.Phe872Leu)	CCDC14 (F720L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605906	NM_001366335.1(CCDC14):c.2525G>C (p.Ser842Thr)	CCDC14 (S547T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372232	NM_001366335.1(CCDC14):c.2480A>T (p.Glu827Val)	CCDC14 (E675V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383203	NM_001366335.1(CCDC14):c.2413G>A (p.Asp805Asn)	CCDC14 (D653N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352234	NM_001366335.1(CCDC14):c.2354C>T (p.Ser785Phe)	CCDC14 (S490F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385066	NM_001366335.1(CCDC14):c.2338C>T (p.Pro780Ser)	CCDC14 (P485S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605905	NM_001366335.1(CCDC14):c.2209A>G (p.Ser737Gly)	CCDC14 (S585G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299952	NM_001366335.1(CCDC14):c.2098G>A (p.Gly700Arg)	CCDC14 (G548R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286521	NM_001366335.1(CCDC14):c.2035G>A (p.Val679Ile)	CCDC14 (V679I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320935	NM_001366335.1(CCDC14):c.1921T>C (p.Ser641Pro)	CCDC14 (S528P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493447	NM_001366335.1(CCDC14):c.1890A>T (p.Gln630His)	CCDC14 (Q630H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367388	NM_001366335.1(CCDC14):c.1835G>A (p.Arg612His)	CCDC14 (R499H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227799	NM_001366335.1(CCDC14):c.1834C>T (p.Arg612Cys)	CCDC14 (R499C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381296	NM_001366335.1(CCDC14):c.1736G>A (p.Arg579His)	CCDC14 (R427H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138396	NM_001366335.1(CCDC14):c.1682A>G (p.Gln561Arg)	CCDC14 (Q409R +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3138395	NM_001366335.1(CCDC14):c.1623T>G (p.Ile541Met)	CCDC14 (I500M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138394	NM_001366335.1(CCDC14):c.1532T>C (p.Ile511Thr)	CCDC14 (I398T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266486	NM_001366335.1(CCDC14):c.1113G>C (p.Gln371His)	CCDC14 (Q330H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385196	NM_001366335.1(CCDC14):c.1081G>A (p.Val361Met)	CCDC14 (V209M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219068	NM_001366335.1(CCDC14):c.1010C>G (p.Thr337Ser)	CCDC14 (T224S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460758	NM_001366335.1(CCDC14):c.950C>T (p.Thr317Met)	CCDC14 (T276M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258611	NM_001366335.1(CCDC14):c.935C>G (p.Ser312Cys)	CCDC14 (S199C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600126	NM_001366335.1(CCDC14):c.917A>G (p.Tyr306Cys)	CCDC14 (Y154C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138401	NM_001366335.1(CCDC14):c.512C>T (p.Ser171Leu)	CCDC14 (S171L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489572	NM_001366335.1(CCDC14):c.506A>G (p.Gln169Arg)	CCDC14 (Q128R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619166	NM_001366335.1(CCDC14):c.495C>A (p.His165Gln)	CCDC14 (H124Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477278	NM_001366335.1(CCDC14):c.448C>G (p.His150Asp)	CCDC14 (H150D +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2462091	NM_001366335.1(CCDC14):c.435G>C (p.Trp145Cys)	CCDC14 (W145C +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2256857	NM_001366335.1(CCDC14):c.398G>T (p.Arg133Ile)	CCDC14 (R92I +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3138399	NM_001366335.1(CCDC14):c.361G>T (p.Asp121Tyr)	CCDC14 (D8Y +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2455989	NM_001366335.1(CCDC14):c.200T>C (p.Leu67Pro)	CCDC14 (L67P)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2482692	NM_001366335.1(CCDC14):c.169G>T (p.Val57Leu)	CCDC14 (V57L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2557001	NM_001366335.1(CCDC14):c.151G>A (p.Glu51Lys)	CCDC14 (E51K)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2473494	NM_001366335.1(CCDC14):c.116A>G (p.Asn39Ser)	CCDC14 (N39S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2566166	NM_001366335.1(CCDC14):c.101A>G (p.Lys34Arg)	CCDC14 (K34R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3138397	NM_001366335.1(CCDC14):c.48G>C (p.Arg16Ser)	CCDC14 (R16S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2392251	NM_001366335.1(CCDC14):c.35T>C (p.Leu12Ser)	CCDC14 (L12S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2531437	NM_001366335.1(CCDC14):c.-30T>C	CCDC14	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3138393	NM_001366335.1(CCDC14):c.-33C>T	CCDC14	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3138402	NM_022757.4(CCDC14):c.82G>T (p.Val28Phe)	CCDC14 (V28F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368594	NM_022757.4(CCDC14):c.46G>A (p.Gly16Ser)	CCDC14 (G16S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138398	NM_022757.4(CCDC14):c.23A>G (p.Asp8Gly)	CCDC14 (D8G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427161	NC_000003.11:g.(?_123003455)_(125313644_?)dup	ADCY5, CCDC14 +12 more	Duplication	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 2423002	NC_000003.11:g.(?_121489192)_(125313644_?)dup	ADCY5, CASR +32 more	Duplication	Autosomal dominant hypocalcemia 1 +1 more	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1452099	NC_000003.11:g.(?_120365818)_(133465047_?)del	KALRN, KBTBD12 +109 more	Deletion	Alkaptonuria	GPathogenic
Select item 1340702	GRCh37/hg19 3q21.1-21.2(chr3:123426881-124387174)x1	CCDC14, KALRN +2 more	Copy number loss	not provided	GPathogenic
Select item 1183991	Single allele	ABTB1, ACAD9 +59 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 1183989	Single allele	ABTB1, ADCY5 +69 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 980053	GRCh37/hg19 3q21.1-21.2(chr3:123442360-123837654)x3	KALRN, ROPN1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 814476	GRCh37/hg19 3q21.1(chr3:122981355-123768908)x1	CCDC14, HACD2 +4 more	Copy number loss	not provided	GUncertain significance
Select item 687972	GRCh37/hg19 3q13.33-21.1(chr3:121384741-123672180)x3	ADCY5, CASR +23 more	Copy number gain	not provided	GUncertain significance
Select item 562814	GRCh37/hg19 3q21.1-21.2(chr3:122698091-125036994)x1	HEG1, SEMA5B +13 more	Copy number loss	not provided	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +1054 more	Copy number gain	See cases	GPathogenic
Select item 394543	GRCh37/hg19 3q21.1(chr3:123477546-123688038)x1	CCDC14, MYLK +1 more	Copy number loss	See cases	GLikely pathogenic

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Items: 66