COL28A1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	PSMG3, PSMG3-AS1 +904 more	Copy number gain	See cases	GPathogenic
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	LOC129997989, LOC129997990 +823 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	LOC110120728, LOC110120749 +879 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	ABCB5, ACTB +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	LOC126860013, LOC126860014 +1298 more	Copy number gain	See cases	GPathogenic
Select item 154993	GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	ABCB5, ACTB +769 more	Copy number gain	See cases	GPathogenic
Select item 147466	GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3	LOC129997985, LOC129997986 +560 more	Copy number gain	See cases	GPathogenic
Select item 57254	GRCh38/hg38 7p22.1-21.3(chr7:6106402-11012657)x1	C1GALT1, CCZ1B +131 more	Copy number loss	See cases	GPathogenic
Select item 149268	GRCh38/hg38 7p22.1-21.3(chr7:6831253-8010127)x3	C1GALT1, COL28A1 +42 more	Copy number gain	See cases	GLikely benign
Select item 148841	GRCh38/hg38 7p22.1-21.3(chr7:6887830-7528189)x3	C1GALT1, COL28A1 +14 more	Copy number gain	See cases	GLikely benign
Select item 148676	GRCh38/hg38 7p22.1-21.3(chr7:6887830-8054546)x3	C1GALT1, COL28A1 +43 more	Copy number gain	See cases	GUncertain significance
Select item 144930	GRCh38/hg38 7p21.3(chr7:7249268-7417064)x1	COL28A1, LINC03016 +2 more	Copy number loss	See cases	GBenign
Select item 150899	GRCh38/hg38 7p21.3(chr7:7249455-10718595)x3	COL28A1, GLCCI1 +62 more	Copy number gain	See cases	GLikely benign
Select item 2207656	NM_001037763.3(COL28A1):c.3360A>T (p.Glu1120Asp)	COL28A1 (E1120D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2622603	NM_001037763.3(COL28A1):c.3224C>A (p.Ala1075Asp)	COL28A1 (A1075D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490133	NM_001037763.3(COL28A1):c.3112C>T (p.Pro1038Ser)	COL28A1 (P1038S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2215656	NM_001037763.3(COL28A1):c.3022C>G (p.Leu1008Val)	COL28A1 (L1008V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589068	NM_001037763.3(COL28A1):c.2993A>T (p.Gln998Leu)	COL28A1 (Q998L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466579	NM_001037763.3(COL28A1):c.2984C>T (p.Ser995Leu)	COL28A1 (S995L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382842	NM_001037763.3(COL28A1):c.2923A>G (p.Lys975Glu)	COL28A1 (K975E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 776204	NM_001037763.3(COL28A1):c.2645A>T (p.Gln882Leu)	COL28A1 (Q882L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2293029	NM_001037763.3(COL28A1):c.2600A>G (p.Asn867Ser)	COL28A1 (N867S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245442	NM_001037763.3(COL28A1):c.2600A>T (p.Asn867Ile)	COL28A1 (N867I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340165	NM_001037763.3(COL28A1):c.2596G>A (p.Asp866Asn)	COL28A1 (D866N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205498	NM_001037763.3(COL28A1):c.2593G>A (p.Val865Met)	COL28A1 (V865M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517864	NM_001037763.3(COL28A1):c.2539G>A (p.Glu847Lys)	COL28A1 (E847K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374535	NM_001037763.3(COL28A1):c.2507G>A (p.Arg836His)	COL28A1 (R836H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256259	NM_001037763.3(COL28A1):c.2480G>A (p.Arg827Gln)	COL28A1 (R827Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2560660	NM_001037763.3(COL28A1):c.2425G>A (p.Val809Met)	COL28A1 (V809M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2620537	NM_001037763.3(COL28A1):c.2333T>G (p.Ile778Ser)	COL28A1 (I778S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 787848	NM_001037763.3(COL28A1):c.2287-3T>C	COL28A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2276718	NM_001037763.3(COL28A1):c.2259T>G (p.Ile753Met)	COL28A1 (I753M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609903	NM_001037763.3(COL28A1):c.2249A>C (p.Lys750Thr)	COL28A1 (K750T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321356	NM_001037763.3(COL28A1):c.2201A>G (p.Gln734Arg)	COL28A1 (Q734R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313753	NM_001037763.3(COL28A1):c.2181G>A (p.Met727Ile)	COL28A1 (M727I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2410559	NM_001037763.3(COL28A1):c.2168C>T (p.Pro723Leu)	COL28A1 (P723L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361271	NM_001037763.3(COL28A1):c.2156G>C (p.Gly719Ala)	COL28A1 (G719A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374240	NM_001037763.3(COL28A1):c.2143C>G (p.Gln715Glu)	COL28A1 (Q715E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378086	NM_001037763.3(COL28A1):c.2117A>G (p.Tyr706Cys)	COL28A1 (Y706C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229771	NM_001037763.3(COL28A1):c.2110C>T (p.Pro704Ser)	COL28A1 (P704S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319403	NM_001037763.3(COL28A1):c.2104G>T (p.Gly702Cys)	COL28A1 (G702C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205022	NM_001037763.3(COL28A1):c.2042G>T (p.Arg681Leu)	COL28A1 (R681L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555901	NM_001037763.3(COL28A1):c.1972C>T (p.Arg658Cys)	COL28A1 (R658C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2623061	NM_001037763.3(COL28A1):c.1910A>G (p.Asp637Gly)	COL28A1 (D637G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459028	NM_001037763.3(COL28A1):c.1879G>A (p.Gly627Arg)	COL28A1 (G627R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519710	NM_001037763.3(COL28A1):c.1784G>T (p.Gly595Val)	COL28A1 (G595V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2468955	NM_001037763.3(COL28A1):c.1526T>C (p.Ile509Thr)	COL28A1 (I509T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213551	NM_001037763.3(COL28A1):c.1493G>A (p.Gly498Glu)	COL28A1 (G498E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594940	NM_001037763.3(COL28A1):c.1475G>A (p.Arg492Gln)	COL28A1 (R492Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460391	NM_001037763.3(COL28A1):c.1438A>G (p.Lys480Glu)	COL28A1 (K480E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342763	NM_001037763.3(COL28A1):c.1397C>G (p.Pro466Arg)	COL28A1 (P466R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602539	NM_001037763.3(COL28A1):c.1387A>G (p.Ile463Val)	COL28A1 (I463V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2657315	NM_001037763.3(COL28A1):c.1347T>C (p.Pro449=)	COL28A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2508386	NM_001037763.3(COL28A1):c.1345C>A (p.Pro449Thr)	COL28A1 (P449T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535035	NM_001037763.3(COL28A1):c.1304G>T (p.Gly435Val)	COL28A1 (G435V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2657316	NM_001037763.3(COL28A1):c.1208C>G (p.Pro403Arg)	COL28A1 (P403R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2623865	NM_001037763.3(COL28A1):c.1172G>A (p.Arg391His)	COL28A1 (R391H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399974	NM_001037763.3(COL28A1):c.1129C>G (p.Pro377Ala)	COL28A1 (P377A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304192	NM_001037763.3(COL28A1):c.1115G>C (p.Gly372Ala)	COL28A1 (G372A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2458490	NM_001037763.3(COL28A1):c.901G>A (p.Gly301Ser)	COL28A1 (G301S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509530	NM_001037763.3(COL28A1):c.890G>C (p.Arg297Pro)	COL28A1 (R297P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2617785	NM_001037763.3(COL28A1):c.847G>C (p.Gly283Arg)	COL28A1 (G283R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604997	NM_001037763.3(COL28A1):c.825A>T (p.Gln275His)	COL28A1 (Q275H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2467390	NM_001037763.3(COL28A1):c.820G>A (p.Ala274Thr)	COL28A1 (A274T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2657317	NM_001037763.3(COL28A1):c.819C>T (p.Asn273=)	COL28A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2329806	NM_001037763.3(COL28A1):c.775C>T (p.Pro259Ser)	COL28A1 (P259S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613215	NM_001037763.3(COL28A1):c.767A>G (p.His256Arg)	COL28A1 (H256R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226247	NM_001037763.3(COL28A1):c.596T>C (p.Leu199Pro)	COL28A1 (L199P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531520	NM_001037763.3(COL28A1):c.568C>G (p.Leu190Val)	COL28A1 (L190V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391516	NM_001037763.3(COL28A1):c.557T>G (p.Ile186Ser)	COL28A1 (I186S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602814	NM_001037763.3(COL28A1):c.477G>A (p.Met159Ile)	COL28A1 (M159I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 932627	NM_001037763.3(COL28A1):c.474G>A (p.Leu158=)	COL28A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2472163	NM_001037763.3(COL28A1):c.347C>T (p.Thr116Ile)	COL28A1 (T116I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259988	NM_001037763.3(COL28A1):c.245C>T (p.Thr82Ile)	COL28A1 (T82I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 776205	NM_001037763.3(COL28A1):c.240A>G (p.Gln80=)	COL28A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2321984	NM_001037763.3(COL28A1):c.157G>A (p.Val53Met)	COL28A1 (V53M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393485	NM_001037763.3(COL28A1):c.101T>C (p.Leu34Pro)	COL28A1 (L34P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2684469	GRCh37/hg19 7p22.3-21.3(chr7:43361-8890475)x3	PSMG3, RAC1 +73 more	Copy number gain	not provided	GPathogenic
Select item 1810289	GRCh37/hg19 7p21.3(chr7:7516346-8018481)x1	COL28A1, GLCCI1 +2 more	Copy number loss	not provided	Gnot provided
Select item 1711132	GRCh37/hg19 7p22.3-21.3(chr7:43360-9649794)x3	MAD1L1, MAFK +73 more	Copy number gain	See cases	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1708194	GRCh37/hg19 7p22.3-21.1(chr7:43360-19485604)x3	ACTB, ADAP1 +98 more	Copy number gain	See cases	GPathogenic
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 814928	GRCh37/hg19 7p22.1-21.3(chr7:6864233-8137002)x3	C1GALT1, GLCCI1 +4 more	Copy number gain	not provided	GLikely benign
Select item 814927	GRCh37/hg19 7p22.1-21.3(chr7:6536635-7639607)x3	COL28A1, GRID2IP +9 more	Copy number gain	not provided	GLikely benign
Select item 814914	GRCh37/hg19 7p22.3-21.3(chr7:1648373-10627513)x3	ACTB, AIMP2 +54 more	Copy number gain	not provided	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 687401	GRCh37/hg19 7p22.3-21.1(chr7:43376-19520619)x3	ACTB, ADAP1 +98 more	Copy number gain	not provided	GPathogenic
Select item 687162	GRCh37/hg19 7p22.1-21.3(chr7:6874384-7786461)x3	C1GALT1, COL28A1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 563391	GRCh37/hg19 7p22.1-21.3(chr7:6579045-7639607)x3	ZNF12, INTS15 +9 more	Copy number gain	not provided	GLikely benign
Select item 563352	GRCh37/hg19 7p22.1-21.3(chr7:7154886-7572439)x3	C1GALT1, COL28A1	Copy number gain	not provided	GLikely benign
Select item 446329	GRCh37/hg19 7p22.3-21.3(chr7:2789546-9066894)x3	AP5Z1, C1GALT1 +42 more	Copy number gain	See cases	GPathogenic
Select item 443457	GRCh37/hg19 7p22.1-21.3(chr7:7243998-7770203)x3	C1GALT1, COL28A1 +2 more	Copy number gain	See cases	GUncertain significance
Select item 443071	GRCh37/hg19 7p22.3-21.3(chr7:43360-12098696)x3	ACTB, ADAP1 +76 more	Copy number gain	See cases	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AASS, ABCA13 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	KLHL7, KLHL7-DT +896 more	Copy number gain	See cases	GPathogenic
Select item 442824	GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3	ABCB5, ACTB +158 more	Copy number gain	See cases	GPathogenic
Select item 442624	GRCh37/hg19 7p22.3-15.3(chr7:43360-23674928)x3	ABCB5, ACTB +121 more	Copy number gain	See cases	GPathogenic
Select item 442503	GRCh37/hg19 7p22.3-21.3(chr7:43360-11567351)x3	ACTB, ADAP1 +76 more	Copy number gain	See cases	GPathogenic

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