COL14A1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1153 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130001109, LOC130001110 +1532 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	AARD, ABRA +1330 more	Copy number gain	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130000987, LOC130000988 +1205 more	Copy number gain	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001173, LOC130001174 +1068 more	Copy number gain	See cases	GPathogenic
Select item 60403	GRCh38/hg38 8q23.3-24.21(chr8:113288454-126716087)x1	AARD, ANXA13 +315 more	Copy number loss	See cases	GPathogenic
Select item 145965	GRCh38/hg38 8q23.3-24.12(chr8:113418060-120975305)x1	MTBP, RAD21 +101 more	Copy number loss	See cases	GPathogenic
Select item 57045	GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3	LOC130001070, LOC130001071 +962 more	Copy number gain	See cases	GPathogenic
Select item 152006	GRCh38/hg38 8q23.3-24.13(chr8:113933305-122621741)x1	AARD, CCN3 +108 more	Copy number loss	See cases	GPathogenic
Select item 150131	GRCh38/hg38 8q23.3-24.13(chr8:114560780-122594102)x1	AARD, CCN3 +106 more	Copy number loss	See cases	GPathogenic
Select item 2579176	GRCh38/hg38 8q23.3-24.23(chr8:115586904-135607135)x3	LOC130001241, LOC130001242 +559 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 60406	GRCh38/hg38 8q24.11-24.13(chr8:118059192-121574437)x1	CCN3, COL14A1 +55 more	Copy number loss	See cases	GPathogenic
Select item 1221897	NM_021110.4(COL14A1):c.-37-178C>T	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 713104	NM_021110.4(COL14A1):c.16C>T (p.Arg6Cys)	COL14A1 (R6C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2261075	NM_021110.4(COL14A1):c.59T>C (p.Val20Ala)	COL14A1 (V20A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3268540	NM_021110.4(COL14A1):c.67T>A (p.Cys23Ser)	COL14A1 (C23S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1222432	NM_021110.4(COL14A1):c.89-169G>T	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3147188	NM_021110.4(COL14A1):c.104G>A (p.Arg35Lys)	COL14A1 (R35K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619639	NM_021110.4(COL14A1):c.121A>G (p.Ile41Val)	COL14A1 (I41V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 747411	NM_021110.4(COL14A1):c.147A>G (p.Ser49=)	COL14A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2528153	NM_021110.4(COL14A1):c.152A>G (p.Lys51Arg)	COL14A1 (K51R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1235618	NM_021110.4(COL14A1):c.205+318G>A	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229826	NM_021110.4(COL14A1):c.206-103del	COL14A1	Deletion (intron variant)	not provided	GBenign
Select item 723311	NM_021110.4(COL14A1):c.275A>G (p.Asp92Gly)	COL14A1 (D92G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3147201	NM_021110.4(COL14A1):c.308A>G (p.Asn103Ser)	COL14A1 (N103S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336254	NM_021110.4(COL14A1):c.319G>A (p.Glu107Lys)	COL14A1 (E107K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720054	NM_021110.4(COL14A1):c.342A>G (p.Gln114=)	COL14A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1252899	NM_021110.4(COL14A1):c.349+29C>G	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3268536	NM_021110.4(COL14A1):c.350T>C (p.Ile117Thr)	COL14A1 (I117T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214040	NM_021110.4(COL14A1):c.374A>T (p.Asp125Val)	COL14A1 (D125V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1224105	NM_021110.4(COL14A1):c.436+178G>A	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267450	NM_021110.4(COL14A1):c.436+181C>T	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268056	NM_021110.4(COL14A1):c.437-30A>C	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 772907	NM_021110.4(COL14A1):c.448G>C (p.Val150Leu)	COL14A1 (V150L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2312246	NM_021110.4(COL14A1):c.524G>C (p.Arg175Thr)	COL14A1 (R146T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147217	NM_021110.4(COL14A1):c.565G>A (p.Asp189Asn)	COL14A1 (D189N +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 741677	NM_021110.4(COL14A1):c.570G>A (p.Val190=)	COL14A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1284014	NM_021110.4(COL14A1):c.592+206C>T	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237839	NM_021110.4(COL14A1):c.612T>C (p.Gly204=)	COL14A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 392486	NM_021110.4(COL14A1):c.676C>T (p.Arg226Ter)	COL14A1 (R226*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2333554	NM_021110.4(COL14A1):c.701A>G (p.Asn234Ser)	COL14A1 (N205S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1221307	NM_021110.4(COL14A1):c.712+81C>T	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245365	NM_021110.4(COL14A1):c.713-72G>A	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 782516	NM_021110.4(COL14A1):c.834A>G (p.Pro278=)	COL14A1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1258745	NM_021110.4(COL14A1):c.877+42C>T	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 783531	NM_021110.4(COL14A1):c.904C>T (p.Leu302=)	COL14A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1239893	NM_021110.4(COL14A1):c.921T>C (p.Ser307=)	COL14A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2354328	NM_021110.4(COL14A1):c.946A>G (p.Asn316Asp)	COL14A1 (N287D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570569	NM_021110.4(COL14A1):c.1022A>G (p.Gln341Arg)	COL14A1 (Q341R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1271707	NM_021110.4(COL14A1):c.1040-215T>C	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2491788	NM_021110.4(COL14A1):c.1043C>T (p.Ser348Leu)	COL14A1 (S319L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147189	NM_021110.4(COL14A1):c.1064C>A (p.Pro355Gln)	COL14A1 (P326Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227145	NM_021110.4(COL14A1):c.1188C>A (p.Asp396Glu)	COL14A1 (D396E +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 755804	NM_021110.4(COL14A1):c.1188C>T (p.Asp396=)	COL14A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1262095	NM_021110.4(COL14A1):c.1191+264A>T	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276802	NM_021110.4(COL14A1):c.1192-76G>A	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3067190	NM_021110.4(COL14A1):c.1239G>A (p.Met413Ile)	COL14A1 (M384I +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3268529	NM_021110.4(COL14A1):c.1303C>T (p.Arg435Trp)	COL14A1 (R435W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147190	NM_021110.4(COL14A1):c.1316C>G (p.Thr439Ser)	COL14A1 (T410S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1234414	NM_021110.4(COL14A1):c.1322-124C>G	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 784642	NM_021110.4(COL14A1):c.1373G>A (p.Ser458Asn)	COL14A1 (S458N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3147191	NM_021110.4(COL14A1):c.1390G>A (p.Asp464Asn)	COL14A1 (D435N +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3268538	NM_021110.4(COL14A1):c.1430C>G (p.Ala477Gly)	COL14A1 (A477G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396826	NM_021110.4(COL14A1):c.1453G>C (p.Gly485Arg)	COL14A1 (G485R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 729611	NM_021110.4(COL14A1):c.1562A>C (p.Glu521Ala)	COL14A1 (E521A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3147192	NM_021110.4(COL14A1):c.1568G>A (p.Ser523Asn)	COL14A1 (S494N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 746766	NM_021110.4(COL14A1):c.1581G>A (p.Thr527=)	COL14A1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2658784	NM_021110.4(COL14A1):c.1621C>T (p.Leu541=)	COL14A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1182743	NM_021110.4(COL14A1):c.1687A>C (p.Asn563His)	COL14A1 (N563H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 723706	NM_021110.4(COL14A1):c.1737+9C>T	COL14A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1281066	NM_021110.4(COL14A1):c.1737+294T>G	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3268534	NM_021110.4(COL14A1):c.1747G>A (p.Asp583Asn)	COL14A1 (D554N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147193	NM_021110.4(COL14A1):c.1780A>T (p.Thr594Ser)	COL14A1 (T565S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1286737	NM_021110.4(COL14A1):c.1865-320del	COL14A1	Deletion (intron variant)	not provided	GBenign
Select item 1225523	NM_021110.4(COL14A1):c.1865-320T>A	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 768259	NM_021110.4(COL14A1):c.1880A>C (p.Gln627Pro)	COL14A1 (Q627P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2518058	NM_021110.4(COL14A1):c.1960C>G (p.His654Asp)	COL14A1 (H654D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314492	NM_021110.4(COL14A1):c.1985A>G (p.Tyr662Cys)	COL14A1 (Y633C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607007	NM_021110.4(COL14A1):c.2006T>C (p.Val669Ala)	COL14A1 (V640A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537808	NM_021110.4(COL14A1):c.2060C>T (p.Thr687Met)	COL14A1 (T658M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 774246	NM_021110.4(COL14A1):c.2061G>A (p.Thr687=)	COL14A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2515638	NM_021110.4(COL14A1):c.2083G>A (p.Ala695Thr)	COL14A1 (A666T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1255143	NM_021110.4(COL14A1):c.2138-303G>A	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255305	NM_021110.4(COL14A1):c.2138-137G>A	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 773224	NM_021110.4(COL14A1):c.2230G>A (p.Gly744Ser)	COL14A1 (G744S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3147194	NM_021110.4(COL14A1):c.2309T>A (p.Met770Lys)	COL14A1 (M741K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1261330	NM_021110.4(COL14A1):c.2349+209C>T	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265628	NM_021110.4(COL14A1):c.2349+232G>T	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265746	NM_021110.4(COL14A1):c.2350-195_2350-189del	COL14A1	Deletion (intron variant)	not provided	GBenign

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