ClinVar for Gene (Select 81578) - ClinVar

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Links from Gene

Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3268633	NM_030820.4(COL21A1):c.197A>C (p.Asn66Thr)	COL21A1 (N66T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3268632	NM_030820.4(COL21A1):c.1711C>G (p.Pro571Ala)	COL21A1 (P571A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3268631	NM_030820.4(COL21A1):c.1496G>A (p.Arg499Gln)	COL21A1 (R496Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 1809510	GRCh38/hg38 6p12.1-11.2(chr6:55755662-55874865)x2	LINC01564, LINC03001 +88 more	Copy number loss	Orofacial cleft	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 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 771399	NM_030820.4(COL21A1):c.2682C>T (p.Pro894=)	COL21A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +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)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +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
Select item 157010	Single allele	COL21A1, LOC123744829	Deletion	Normal pregnancy	Gnot provided
Select item 148002	GRCh38/hg38 6p12.1-q12(chr6:53931543-68149750)x3	BAG2, BEND6 +147 more	Copy number gain	See cases	GPathogenic
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 144369	GRCh38/hg38 6p12.1-11.2(chr6:56312924-57306212)x1	BAG2, BEND6 +28 more	Copy number loss	See cases	GUncertain significance
Select item 58429	GRCh38/hg38 6p12.1(chr6:54263893-56826637)x1	BMP5, COL21A1 +18 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 72