COL21A1[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145584	GRCh38/hg38 6p12.3-11.2(chr6:50971182-57432788)x1	BAG2, BEND6 +171 more	Copy number loss	See cases	GPathogenic
Select item 1809510	GRCh38/hg38 6p12.1-11.2(chr6:55755662-55874865)x2	LINC01564, LINC03001 +88 more	Copy number loss	Orofacial cleft	GUncertain significance
Select item 148002	GRCh38/hg38 6p12.1-q12(chr6:53931543-68149750)x3	BAG2, BEND6 +147 more	Copy number gain	See cases	GPathogenic
Select item 58429	GRCh38/hg38 6p12.1(chr6:54263893-56826637)x1	BMP5, COL21A1 +18 more	Copy number loss	See cases	GPathogenic
Select item 157010	Single allele	COL21A1, LOC123744829	Deletion	Normal pregnancy	Gnot provided
Select item 2250590	NM_030820.4(COL21A1):c.2836G>T (p.Ala946Ser)	COL21A1 (A344S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243086	NM_030820.4(COL21A1):c.2698C>G (p.Pro900Ala)	COL21A1 (P257A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 771399	NM_030820.4(COL21A1):c.2682C>T (p.Pro894=)	COL21A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2274192	NM_030820.4(COL21A1):c.2681C>G (p.Pro894Arg)	COL21A1 (P891R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3147395	NM_030820.4(COL21A1):c.2572G>A (p.Gly858Ser)	COL21A1 (G858S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246622	NM_030820.4(COL21A1):c.2541G>T (p.Leu847Phe)	COL21A1 (L204F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3147393	NM_030820.4(COL21A1):c.2285C>T (p.Pro762Leu)	COL21A1 (P759L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2609521	NM_030820.4(COL21A1):c.2248T>C (p.Ser750Pro)	COL21A1 (S750P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3147392	NM_030820.4(COL21A1):c.2192G>A (p.Gly731Asp)	COL21A1 (G728D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492738	NM_030820.4(COL21A1):c.2189A>G (p.His730Arg)	COL21A1 (H128R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557366	NM_030820.4(COL21A1):c.2152C>A (p.Gln718Lys)	COL21A1 (Q715K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396429	NM_030820.4(COL21A1):c.2075G>A (p.Gly692Glu)	COL21A1 (G692E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3147391	NM_030820.4(COL21A1):c.2032G>A (p.Ala678Thr)	COL21A1 (A675T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2455302	NM_030820.4(COL21A1):c.2006C>T (p.Ala669Val)	COL21A1 (A666V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3236561	NM_030820.4(COL21A1):c.1994G>T (p.Gly665Val)	COL21A1 (G23* +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3147390	NM_030820.4(COL21A1):c.1886G>A (p.Gly629Glu)	COL21A1 (G626E +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2403358	NM_030820.4(COL21A1):c.1870C>T (p.Pro624Ser)	COL21A1 (P22S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2394692	NM_030820.4(COL21A1):c.1856A>C (p.Lys619Thr)	COL21A1 (K619T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3147389	NM_030820.4(COL21A1):c.1847T>C (p.Met616Thr)	COL21A1 (M616T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2511918	NM_030820.4(COL21A1):c.1819C>T (p.Pro607Ser)	COL21A1 (P5S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 771715	NM_030820.4(COL21A1):c.1748C>G (p.Pro583Arg)	COL21A1 (P583R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2609150	NM_030820.4(COL21A1):c.1747C>T (p.Pro583Ser)	COL21A1 (P583S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403827	NM_030820.4(COL21A1):c.1735T>A (p.Leu579Ile)	COL21A1 (L579I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221067	NM_030820.4(COL21A1):c.1702G>T (p.Ala568Ser)	COL21A1 (A568S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3147388	NM_030820.4(COL21A1):c.1700C>A (p.Pro567His)	COL21A1 (P564H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601149	NM_030820.4(COL21A1):c.1652G>T (p.Gly551Val)	COL21A1 (G548V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303556	NM_030820.4(COL21A1):c.1548T>A (p.Asp516Glu)	COL21A1 (D516E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401508	NM_030820.4(COL21A1):c.1522C>T (p.Pro508Ser)	COL21A1 (P505S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3236562	NM_030820.4(COL21A1):c.1514A>G (p.Lys505Arg)	COL21A1 (K502R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2302296	NM_030820.4(COL21A1):c.1481G>A (p.Gly494Glu)	COL21A1 (G491E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3147387	NM_030820.4(COL21A1):c.1405C>G (p.Pro469Ala)	COL21A1 (P469A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396678	NM_030820.4(COL21A1):c.1343C>T (p.Pro448Leu)	COL21A1 (P445L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617090	NM_030820.4(COL21A1):c.1201T>C (p.Phe401Leu)	COL21A1 (F401L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3147386	NM_030820.4(COL21A1):c.1195G>C (p.Val399Leu)	COL21A1 (V399L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250448	NM_030820.4(COL21A1):c.1109T>C (p.Ile370Thr)	COL21A1 (I370T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340529	NM_030820.4(COL21A1):c.1058G>A (p.Arg353His)	COL21A1 (R353H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407533	NM_030820.4(COL21A1):c.874A>C (p.Lys292Gln)	COL21A1 (K292Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279166	NM_030820.4(COL21A1):c.799G>C (p.Glu267Gln)	COL21A1 (E267Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3147399	NM_030820.4(COL21A1):c.716T>C (p.Val239Ala)	COL21A1 (V239A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3147398	NM_030820.4(COL21A1):c.686G>A (p.Arg229Lys)	COL21A1 (R229K)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2479706	NM_030820.4(COL21A1):c.656C>A (p.Thr219Lys)	COL21A1 (T219K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3147397	NM_030820.4(COL21A1):c.651T>G (p.Cys217Trp)	COL21A1 (C217W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3147396	NM_030820.4(COL21A1):c.525A>C (p.Glu175Asp)	COL21A1 (E175D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2570135	NM_030820.4(COL21A1):c.517G>A (p.Glu173Lys)	COL21A1 (E173K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360101	NM_030820.4(COL21A1):c.499G>C (p.Ala167Pro)	COL21A1 (A167P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245262	NM_030820.4(COL21A1):c.478G>A (p.Asp160Asn)	COL21A1 (D160N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204006	NM_030820.4(COL21A1):c.428C>T (p.Thr143Met)	COL21A1 (T143M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275467	NM_030820.4(COL21A1):c.373G>T (p.Asp125Tyr)	COL21A1 (D125Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619768	NM_030820.4(COL21A1):c.319A>C (p.Ile107Leu)	COL21A1 (I107L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480009	NM_030820.4(COL21A1):c.313G>A (p.Glu105Lys)	COL21A1 (E105K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260939	NM_030820.4(COL21A1):c.94C>T (p.Arg32Cys)	COL21A1 (R32C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282296	NM_030820.4(COL21A1):c.9C>G (p.His3Gln)	COL21A1 (H3Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 144369	GRCh38/hg38 6p12.1-11.2(chr6:56312924-57306212)x1	BAG2, BEND6 +28 more	Copy number loss	See cases	GUncertain significance
Select item 1676306	GRCh37/hg19 6p21.1-q12(chr6:43636308-64947206)x3	PAQR8, PGK2 +92 more	Copy number gain	not provided	GLikely pathogenic
Select item 1527242	GRCh37/hg19 6p12.1(chr6:55850997-55936405)	COL21A1	Copy number loss	not specified	GUncertain significance
Select item 1527241	GRCh37/hg19 6p12.1(chr6:55731582-56212819)	BMP5, COL21A1	Copy number gain	not specified	GUncertain significance
Select item 1527240	GRCh37/hg19 6p12.1(chr6:55565835-56277853)	BMP5, COL21A1	Copy number gain	not specified	GUncertain significance
Select item 979544	GRCh37/hg19 6p12.1(chr6:55843615-55936405)x1	COL21A1	Copy number loss	not provided	GUncertain significance
Select item 814815	GRCh37/hg19 6p12.1(chr6:55921346-56312552)x3	COL21A1	Copy number gain	not provided	GUncertain significance
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	LRRC1, LRRC73 +427 more	Copy number gain	not provided	GPathogenic
Select item 443605	GRCh37/hg19 6p12.1(chr6:55571225-56204751)x3	BMP5, COL21A1	Copy number gain	See cases	GUncertain significance
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 442770	GRCh37/hg19 6p12.1(chr6:54730810-56217129)x1	BMP5, COL21A1 +4 more	Copy number loss	See cases	GLikely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 69