CA14[gene] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 57468	GRCh38/hg38 1q21.2(chr1:150034379-150414215)x1	ANP32E, APH1A +35 more	Copy number loss	See cases	GUncertain significance
Select item 149773	GRCh38/hg38 1q21.2(chr1:150214843-150565007)x3	ADAMTSL4, ADAMTSL4-AS1 +37 more	Copy number gain	See cases	GLikely benign
Select item 2325147	NM_012113.3(CA14):c.62A>C (p.His21Pro)	CA14 (H21P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604441	NM_012113.3(CA14):c.145G>A (p.Asp49Asn)	CA14 (D49N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2471986	NM_012113.3(CA14):c.245A>G (p.Asn82Ser)	CA14 (N82S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491413	NM_012113.3(CA14):c.302G>A (p.Arg101Gln)	CA14 (R101Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606844	NM_012113.3(CA14):c.305A>C (p.Lys102Thr)	CA14 (K102T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281819	NM_012113.3(CA14):c.338G>T (p.Gly113Val)	CA14 (G113V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136121	NM_012113.3(CA14):c.421T>C (p.Ser141Pro)	CA14 (S141P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775598	NM_012113.3(CA14):c.447G>A (p.Glu149=)	CA14	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2266596	NM_012113.3(CA14):c.473C>G (p.Ala158Gly)	CA14 (A158G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318688	NM_012113.3(CA14):c.479T>C (p.Leu160Pro)	CA14 (L160P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136122	NM_012113.3(CA14):c.518C>T (p.Ala173Val)	CA14 (A173V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219549	NM_012113.3(CA14):c.529A>C (p.Ile177Leu)	CA14 (I177L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361746	NM_012113.3(CA14):c.632G>A (p.Arg211His)	CA14 (R211H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224627	NM_012113.3(CA14):c.715G>C (p.Glu239Gln)	CA14 (E239Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136123	NM_012113.3(CA14):c.815G>A (p.Arg272His)	CA14 (R272H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275756	NM_012113.3(CA14):c.818T>C (p.Met273Thr)	CA14 (M273T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 728250	NM_012113.3(CA14):c.863-4C>T	CA14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2300068	NM_012113.3(CA14):c.875G>C (p.Ser292Thr)	CA14 (S292T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136125	NM_012113.3(CA14):c.883G>A (p.Val295Ile)	CA14 (V295I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543317	NM_012113.3(CA14):c.933T>G (p.Ile311Met)	CA14 (I311M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731338	NM_012113.3(CA14):c.934G>A (p.Ala312Thr)	CA14 (A312T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2595317	NM_012113.3(CA14):c.938G>A (p.Arg313Lys)	CA14 (R313K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457195	NM_012113.3(CA14):c.968G>A (p.Arg323Gln)	CA14 (R323Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592393	NM_012113.3(CA14):c.973A>T (p.Ser325Cys)	CA14 (S325C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 3062368	GRCh37/hg19 1q21.2-21.3(chr1:149713775-150385573)x1	ANP32E, APH1A +25 more	Copy number loss	not specified	GPathogenic
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 2425201	NC_000001.10:g.(?_150039915)_(150464158_?)dup	ANP32E, APH1A +9 more	Duplication	not provided	GUncertain significance
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	LCE1C, LCE1D +228 more	Duplication	Kostmann syndrome +3 more	GUncertain significance
Select item 1411622	NC_000001.10:g.(?_150044213)_(150477474_?)dup	ANP32E, APH1A +9 more	Duplication	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	ATP8B2, AVPR1B +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 393719	GRCh37/hg19 1q21.1-21.3(chr1:143753740-151399970)x3	ACP6, ADAMTSL4 +103 more	Copy number gain	See cases	GPathogenic
Select item 225520	GRCh37/hg19 1q21.1-21.3(chr1:144927578-153223600)x3	CIART, LCE2A +154 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic

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Items: 39