COL20A1[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 197

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 3235944	GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	ABHD16B, ADNP +635 more	Copy number gain	20q13.13qter duplication	GPathogenic
Select item 155517	GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3	LOC130066385, LOC130066386 +553 more	Copy number gain	See cases	GLikely pathogenic
Select item 148973	GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3	LOC130066289, LOC130066290 +491 more	Copy number gain	See cases	GPathogenic
Select item 152840	GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3	LOC130066383, LOC130066384 +464 more	Copy number gain	See cases	GPathogenic
Select item 146530	GRCh38/hg38 20q13.32-13.33(chr20:59041966-64277321)x3	LOC130066362, LOC130066363 +355 more	Copy number gain	See cases	GPathogenic
Select item 150212	GRCh38/hg38 20q13.33(chr20:61326549-64277326)x3	ABHD16B, ADRM1 +312 more	Copy number gain	See cases	GPathogenic
Select item 1707464	Single allele	ADRM1, ARFGAP1 +198 more	Duplication	not specified	GUncertain significance
Select item 58974	GRCh38/hg38 20q13.33(chr20:62455231-63839491)x1	LOC130066313, LOC130066314 +183 more	Copy number loss	See cases	GPathogenic
Select item 58975	GRCh38/hg38 20q13.33(chr20:62545370-64241486)x1	ABHD16B, ARFGAP1 +249 more	Copy number loss	See cases	GPathogenic
Select item 144360	GRCh38/hg38 20q13.33(chr20:62561794-64277321)x1	ABHD16B, ARFGAP1 +248 more	Copy number loss	See cases	GPathogenic
Select item 153305	GRCh38/hg38 20q13.33(chr20:62582073-64284202)x1	LOC130066412, LOC130066413 +244 more	Copy number loss	See cases	GPathogenic
Select item 2579288	GRCh38/hg38 20q13.33(chr20:62632017-63794804)x1	ARFGAP1, ARFRP1 +165 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 153207	GRCh38/hg38 20q13.33(chr20:62663307-64284202)x1	ABHD16B, ARFGAP1 +230 more	Copy number loss	See cases	GPathogenic
Select item 1696472	Single allele	ARFGAP1, BHLHE23 +102 more	Duplication	not provided	GUncertain significance
Select item 58977	GRCh38/hg38 20q13.33(chr20:63095686-63524980)x1	ARFGAP1, BIRC7 +37 more	Copy number loss	See cases	GPathogenic
Select item 148310	GRCh38/hg38 20q13.33(chr20:63153963-64277321)x1	RGS19, RTEL1 +181 more	Copy number loss	See cases	GPathogenic
Select item 160985	GRCh38/hg38 20q13.33(chr20:63199020-64277321)x3	ABHD16B, ARFGAP1 +177 more	Copy number gain	See cases	GPathogenic
Select item 146197	GRCh38/hg38 20q13.33(chr20:63199020-64277321)x1	ABHD16B, ARFGAP1 +177 more	Copy number loss	See cases	GLikely pathogenic
Select item 221549	GRCh38/hg38 20q13.33(chr20:63239482-63415015)x1	ARFGAP1, BIRC7 +15 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 1341868	NC_000020.11:g.63255263_63498365del	ARFGAP1, CHRNA4 +19 more	Deletion	Seizure	GLikely pathogenic
Select item 2538317	NM_020882.4(COL20A1):c.24C>A (p.His8Gln)	COL20A1 (H8Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147382	NM_020882.4(COL20A1):c.73C>G (p.Gln25Glu)	COL20A1 (Q25E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570266	NM_020882.4(COL20A1):c.103G>C (p.Ala35Pro)	COL20A1 (A35P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297754	NM_020882.4(COL20A1):c.256A>C (p.Ser86Arg)	COL20A1 (S86R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147368	NM_020882.4(COL20A1):c.283A>G (p.Ile95Val)	COL20A1 (I95V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147373	NM_020882.4(COL20A1):c.308G>C (p.Arg103Pro)	COL20A1 (R103P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147377	NM_020882.4(COL20A1):c.329A>C (p.Glu110Ala)	COL20A1 (E110A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284048	NM_020882.4(COL20A1):c.358T>A (p.Ser120Thr)	COL20A1 (S120T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147381	NM_020882.4(COL20A1):c.388G>A (p.Gly130Ser)	COL20A1 (G130S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1174522	NM_020882.4(COL20A1):c.392C>G (p.Ser131Cys)	COL20A1 (S131C)	Single nucleotide variant (missense variant)	Palmoplantar keratoderma i, striate, focal, or diffuse	GUncertain significance
Select item 2273183	NM_020882.4(COL20A1):c.413C>G (p.Pro138Arg)	COL20A1 (P138R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268627	NM_020882.4(COL20A1):c.418C>A (p.His140Asn)	COL20A1 (H140N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787606	NM_020882.4(COL20A1):c.423G>A (p.Thr141=)	COL20A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2652520	NM_020882.4(COL20A1):c.525C>T (p.Pro175=)	COL20A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2527989	NM_020882.4(COL20A1):c.682C>G (p.Gln228Glu)	COL20A1 (Q228E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370400	NM_020882.4(COL20A1):c.740G>A (p.Arg247His)	COL20A1 (R247H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3147383	NM_020882.4(COL20A1):c.749G>A (p.Arg250His)	COL20A1 (R250H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147384	NM_020882.4(COL20A1):c.793G>A (p.Val265Met)	COL20A1 (V265M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652521	NM_020882.4(COL20A1):c.811C>G (p.Gln271Glu)	COL20A1 (Q271E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3268617	NM_020882.4(COL20A1):c.829C>T (p.Arg277Cys)	COL20A1 (R277C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147385	NM_020882.4(COL20A1):c.845A>G (p.Lys282Arg)	COL20A1 (K282R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 752588	NM_020882.4(COL20A1):c.864G>A (p.Thr288=)	COL20A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2652522	NM_020882.4(COL20A1):c.867C>T (p.Asp289=)	COL20A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2601625	NM_020882.4(COL20A1):c.901C>T (p.Arg301Cys)	COL20A1 (R301C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549061	NM_020882.4(COL20A1):c.922G>A (p.Val308Met)	COL20A1 (V308M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588957	NM_020882.4(COL20A1):c.928G>A (p.Val310Ile)	COL20A1 (V310I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2496405	NM_020882.4(COL20A1):c.986C>T (p.Pro329Leu)	COL20A1 (P329L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393304	NM_020882.4(COL20A1):c.1033G>A (p.Gly345Ser)	COL20A1 (G345S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529337	NM_020882.4(COL20A1):c.1068C>G (p.Cys356Trp)	COL20A1 (C356W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588576	NM_020882.4(COL20A1):c.1091C>T (p.Pro364Leu)	COL20A1 (P364L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147348	NM_020882.4(COL20A1):c.1109C>T (p.Ala370Val)	COL20A1 (A370V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147349	NM_020882.4(COL20A1):c.1118C>T (p.Ala373Val)	COL20A1 (A373V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314995	NM_020882.4(COL20A1):c.1160A>G (p.Gln387Arg)	COL20A1 (Q387R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353645	NM_020882.4(COL20A1):c.1168T>A (p.Ser390Thr)	COL20A1 (S390T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364986	NM_020882.4(COL20A1):c.1181G>T (p.Arg394Leu)	COL20A1 (R394L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147350	NM_020882.4(COL20A1):c.1198G>A (p.Ala400Thr)	COL20A1 (A400T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221678	NM_020882.4(COL20A1):c.1205G>A (p.Arg402Gln)	COL20A1 (R402Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2261709	NM_020882.4(COL20A1):c.1228G>A (p.Val410Ile)	COL20A1 (V410I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268616	NM_020882.4(COL20A1):c.1235G>A (p.Arg412Gln)	COL20A1 (R412Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550530	NM_020882.4(COL20A1):c.1274A>G (p.Glu425Gly)	COL20A1 (E425G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147351	NM_020882.4(COL20A1):c.1285G>A (p.Ala429Thr)	COL20A1 (A429T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147352	NM_020882.4(COL20A1):c.1292C>T (p.Thr431Met)	COL20A1 (T431M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147353	NM_020882.4(COL20A1):c.1301A>G (p.His434Arg)	COL20A1 (H434R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147354	NM_020882.4(COL20A1):c.1304A>G (p.Asn435Ser)	COL20A1 (N435S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147355	NM_020882.4(COL20A1):c.1313C>G (p.Ser438Cys)	COL20A1 (S438C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206018	NM_020882.4(COL20A1):c.1316G>T (p.Arg439Leu)	COL20A1 (R439L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147356	NM_020882.4(COL20A1):c.1357G>A (p.Gly453Arg)	COL20A1 (G453R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652523	NM_020882.4(COL20A1):c.1394-8C>A	COL20A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3147357	NM_020882.4(COL20A1):c.1447G>A (p.Val483Ile)	COL20A1 (V483I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2364804	NM_020882.4(COL20A1):c.1483C>T (p.His495Tyr)	COL20A1 (H495Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358496	NM_020882.4(COL20A1):c.1484A>G (p.His495Arg)	COL20A1 (H495R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147358	NM_020882.4(COL20A1):c.1499G>A (p.Cys500Tyr)	COL20A1 (C500Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268622	NM_020882.4(COL20A1):c.1507G>A (p.Ala503Thr)	COL20A1 (A503T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652524	NM_020882.4(COL20A1):c.1510T>G (p.Ser504Ala)	COL20A1 (S504A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3147359	NM_020882.4(COL20A1):c.1535G>A (p.Arg512Gln)	COL20A1 (R512Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330266	NM_020882.4(COL20A1):c.1545G>C (p.Gln515His)	COL20A1 (Q515H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454406	NM_020882.4(COL20A1):c.1604C>T (p.Ser535Leu)	COL20A1 (S535L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268620	NM_020882.4(COL20A1):c.1611G>C (p.Gln537His)	COL20A1 (Q537H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461363	NM_020882.4(COL20A1):c.1651C>T (p.Arg551Cys)	COL20A1 (R551C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511363	NM_020882.4(COL20A1):c.1702G>A (p.Val568Met)	COL20A1 (V568M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348287	NM_020882.4(COL20A1):c.1714G>A (p.Ala572Thr)	COL20A1 (A572T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3147360	NM_020882.4(COL20A1):c.1739C>T (p.Ala580Val)	COL20A1 (A580V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511769	NM_020882.4(COL20A1):c.1753C>T (p.Arg585Cys)	COL20A1 (R585C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320317	NM_020882.4(COL20A1):c.1792C>T (p.His598Tyr)	COL20A1 (H598Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268615	NM_020882.4(COL20A1):c.1946G>A (p.Ser649Asn)	COL20A1 (S649N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553417	NM_020882.4(COL20A1):c.1960T>C (p.Ser654Pro)	COL20A1 (S654P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374255	NM_020882.4(COL20A1):c.1967C>T (p.Thr656Met)	COL20A1 (T656M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147361	NM_020882.4(COL20A1):c.1988T>C (p.Val663Ala)	COL20A1 (V663A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397384	NM_020882.4(COL20A1):c.2008G>A (p.Ala670Thr)	COL20A1 (A670T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268623	NM_020882.4(COL20A1):c.2021G>C (p.Gly674Ala)	COL20A1 (G674A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480212	NM_020882.4(COL20A1):c.2048C>T (p.Thr683Met)	COL20A1 (T683M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287160	NM_020882.4(COL20A1):c.2101A>C (p.Thr701Pro)	COL20A1 (T701P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268625	NM_020882.4(COL20A1):c.2170G>A (p.Gly724Arg)	COL20A1 (G724R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570121	NM_020882.4(COL20A1):c.2252C>T (p.Ser751Leu)	COL20A1 (S751L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588968	NM_020882.4(COL20A1):c.2263G>A (p.Asp755Asn)	COL20A1 (D755N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3147362	NM_020882.4(COL20A1):c.2266A>C (p.Ser756Arg)	COL20A1 (S756R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147364	NM_020882.4(COL20A1):c.2386G>A (p.Val796Met)	COL20A1 (V796M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551642	NM_020882.4(COL20A1):c.2426T>C (p.Val809Ala)	COL20A1 (V809A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

<< First< Prev

Page of 2