MMP21[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 144206	GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3	LOC126861107, LOC128598885 +802 more	Copy number gain	See cases	GPathogenic
Select item 57507	GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3	ABLIM1, ABRAXAS2 +679 more	Copy number gain	See cases	GPathogenic
Select item 59728	GRCh38/hg38 10q26.11-26.3(chr10:117866565-133554210)x3	ABRAXAS2, ACADSB +514 more	Copy number gain	See cases	GPathogenic
Select item 153718	GRCh38/hg38 10q26.11-26.3(chr10:119707856-133613639)x3	LOC130004884, LOC130004885 +438 more	Copy number gain	See cases	GPathogenic
Select item 57403	GRCh38/hg38 10q26.12-26.3(chr10:120454430-133620674)x1	LOC130004881, LOC130004882 +418 more	Copy number loss	See cases	GPathogenic
Select item 150499	GRCh38/hg38 10q26.12-26.3(chr10:120970558-133622588)x1	LOC130005014, LOC130005015 +409 more	Copy number loss	See cases	GPathogenic
Select item 154374	GRCh38/hg38 10q26.13-26.3(chr10:121588992-133620674)x1	FUOM, GLRX3 +399 more	Copy number loss	See cases	GPathogenic
Select item 154670	GRCh38/hg38 10q26.13-26.3(chr10:121918547-133620674)x1	LOC130004911, LOC130004912 +395 more	Copy number loss	See cases	GPathogenic
Select item 57376	GRCh38/hg38 10q26.13-26.3(chr10:122265252-133620674)x1	ABRAXAS2, ACADSB +383 more	Copy number loss	See cases	GPathogenic
Select item 58820	GRCh38/hg38 10q26.13-26.2(chr10:122826743-126730948)x1	ABRAXAS2, ACADSB +164 more	Copy number loss	See cases	GPathogenic
Select item 149417	GRCh38/hg38 10q26.13-26.3(chr10:122881207-133620609)x1	LOC130004994, LOC130004995 +361 more	Copy number loss	See cases	GPathogenic
Select item 58821	GRCh38/hg38 10q26.13-26.2(chr10:122973296-128210291)x1	ABRAXAS2, ACADSB +182 more	Copy number loss	See cases	GPathogenic
Select item 57447	GRCh38/hg38 10q26.13-26.3(chr10:123307835-133620674)x1	ABRAXAS2, ADAM12 +331 more	Copy number loss	See cases	GPathogenic
Select item 155477	GRCh38/hg38 10q26.13-26.3(chr10:123576393-133613639)x1	ABRAXAS2, ADAM12 +318 more	Copy number loss	See cases	GPathogenic
Select item 58822	GRCh38/hg38 10q26.13-26.3(chr10:123580320-133558988)x1	ABRAXAS2, ADAM12 +318 more	Copy number loss	See cases	GPathogenic
Select item 155556	GRCh38/hg38 10q26.13-26.3(chr10:123986772-133613639)x1	ABRAXAS2, ADAM12 +311 more	Copy number loss	See cases	GPathogenic
Select item 147735	GRCh38/hg38 10q26.13-26.2(chr10:124032888-127368827)x3	ABRAXAS2, ADAM12 +117 more	Copy number gain	See cases	GPathogenic
Select item 146789	GRCh38/hg38 10q26.13-26.3(chr10:124473108-133620609)x1	ABRAXAS2, ADAM12 +297 more	Copy number loss	See cases	GPathogenic
Select item 148580	GRCh38/hg38 10q26.13-26.3(chr10:124834858-133622588)x1	LOC130005026, LOC130005027 +257 more	Copy number loss	See cases	GPathogenic
Select item 1707466	Single allele	BCCIP, CTBP2 +34 more	Duplication	not specified	GUncertain significance
Select item 150776	GRCh38/hg38 10q26.13-26.3(chr10:125021995-133620609)x1	LOC126861090, LOC126861091 +250 more	Copy number loss	See cases	GPathogenic
Select item 152830	GRCh38/hg38 10q26.13-26.3(chr10:125452905-133785874)x3	ADAM12, ADAM8 +241 more	Copy number gain	See cases	GPathogenic
Select item 144259	GRCh38/hg38 10q26.13-26.3(chr10:125657472-133620674)x1	ADAM12, ADAM8 +234 more	Copy number loss	See cases	GPathogenic
Select item 783193	NM_147191.1(MMP21):c.1683C>T (p.Asp561=)	MMP21	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2289398	NM_147191.1(MMP21):c.1651T>C (p.Phe551Leu)	MMP21 (F551L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3295330	NM_147191.1(MMP21):c.1620G>C (p.Trp540Cys)	MMP21 (W540C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233481	NM_147191.1(MMP21):c.1580G>T (p.Trp527Leu)	MMP21 (W527L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 504278	NM_147191.1(MMP21):c.1539T>G (p.Tyr513Ter)	MMP21 (Y513*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2433766	NM_147191.1(MMP21):c.1517T>C (p.Ile506Thr)	MMP21 (I506T)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 7, autosomal	GUncertain significance
Select item 3161369	NM_147191.1(MMP21):c.1496A>G (p.Gln499Arg)	MMP21 (Q499R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3295327	NM_147191.1(MMP21):c.1472A>T (p.Glu491Val)	MMP21 (E491V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515927	NM_147191.1(MMP21):c.1453T>C (p.Tyr485His)	MMP21 (Y485H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361065	NM_147191.1(MMP21):c.1444C>T (p.Leu482Phe)	MMP21 (L482F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211493	NM_147191.1(MMP21):c.1432A>G (p.Arg478Gly)	MMP21 (R478G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3235120	NM_147191.1(MMP21):c.1380_1381del (p.Lys461fs)	MMP21 (K461fs)	Deletion (frameshift variant)	Heterotaxy, visceral, 7, autosomal	GPathogenic
Select item 2349887	NM_147191.1(MMP21):c.1373G>A (p.Arg458Gln)	MMP21 (R458Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 265317	NM_147191.1(MMP21):c.1372C>T (p.Arg458Ter)	MMP21 (R458*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 707208	NM_147191.1(MMP21):c.1361C>T (p.Ala454Val)	MMP21 (A454V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3043541	NM_147191.1(MMP21):c.1359G>A (p.Thr453=)	MMP21	Single nucleotide variant (synonymous variant)	MMP21-related disorder	GLikely benign
Select item 2502127	NM_147191.1(MMP21):c.1358C>T (p.Thr453Met)	MMP21 (T453M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 784817	NM_147191.1(MMP21):c.1356C>T (p.Asp452=)	MMP21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2507421	NM_147191.1(MMP21):c.1303del (p.Ser435fs)	MMP21 (S435fs)	Deletion (frameshift variant)	Heterotaxy, visceral, 7, autosomal	GLikely pathogenic
Select item 2520356	NM_147191.1(MMP21):c.1283C>A (p.Thr428Lys)	MMP21 (T428K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481389	NM_147191.1(MMP21):c.1283C>T (p.Thr428Ile)	MMP21 (T428I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274845	NM_147191.1(MMP21):c.1223G>A (p.Arg408His)	MMP21 (R408H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 289001	NM_147191.1(MMP21):c.1203G>A (p.Trp401Ter)	MMP21 (W401*)	Single nucleotide variant (nonsense)	Visceral heterotaxy +1 more	GLikely pathogenic
Select item 3295326	NM_147191.1(MMP21):c.1186G>A (p.Ala396Thr)	MMP21 (A396T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3161136	NM_147191.1(MMP21):c.1182A>G (p.Ile394Met)	MMP21 (I394M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3295329	NM_147191.1(MMP21):c.1174C>G (p.His392Asp)	MMP21 (H392D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3161086	NM_147191.1(MMP21):c.1151C>A (p.Thr384Asn)	MMP21 (T384N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318291	NM_147191.1(MMP21):c.1151C>G (p.Thr384Ser)	MMP21 (T384S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2633390	NM_147191.1(MMP21):c.1129G>A (p.Gly377Arg)	MMP21 (G377R)	Single nucleotide variant (missense variant)	MMP21-related disorder	GUncertain significance
Select item 3161042	NM_147191.1(MMP21):c.1126T>C (p.Tyr376His)	MMP21 (Y376H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1027776	NM_147191.1(MMP21):c.1123C>T (p.Arg375Cys)	MMP21 (R375C)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 7, autosomal	GUncertain significance
Select item 3161008	NM_147191.1(MMP21):c.1083C>A (p.Asn361Lys)	MMP21 (N361K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2634606	NM_147191.1(MMP21):c.1078C>T (p.Arg360Cys)	MMP21 (R360C)	Single nucleotide variant (missense variant)	MMP21-related disorder	GUncertain significance
Select item 707145	NM_147191.1(MMP21):c.1046A>G (p.Glu349Gly)	MMP21 (E349G)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 3036410	NM_147191.1(MMP21):c.1038A>G (p.Gln346=)	MMP21	Single nucleotide variant (synonymous variant)	MMP21-related disorder	GLikely benign
Select item 3035599	NM_147191.1(MMP21):c.1035C>T (p.Asn345=)	MMP21	Single nucleotide variant (synonymous variant)	MMP21-related disorder	GLikely benign
Select item 3235109	NM_147191.1(MMP21):c.1025_1026del (p.Lys342fs)	MMP21 (K342fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2365064	NM_147191.1(MMP21):c.1007C>T (p.Ala336Val)	MMP21 (A336V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327231	NM_147191.1(MMP21):c.1004C>A (p.Thr335Asn)	MMP21 (T335N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3041664	NM_147191.1(MMP21):c.980-11_980-8del	MMP21	Microsatellite (intron variant)	MMP21-related disorder	GLikely benign
Select item 3235115	NM_147191.1(MMP21):c.961G>C (p.Ala321Pro)	MMP21 (A321P)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 7, autosomal	GPathogenic
Select item 3235118	NM_147191.1(MMP21):c.947G>A (p.Trp316Ter)	MMP21 (W316*)	Single nucleotide variant (nonsense)	Heterotaxy, visceral, 7, autosomal	GPathogenic
Select item 1275820	NM_147191.1(MMP21):c.937G>T (p.Glu313Ter)	MMP21 (E313*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3054620	NM_147191.1(MMP21):c.891G>A (p.Thr297=)	MMP21	Single nucleotide variant (synonymous variant)	MMP21-related disorder	GLikely benign
Select item 1027777	NM_147191.1(MMP21):c.890C>T (p.Thr297Met)	MMP21 (T297M)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 7, autosomal +1 more	GUncertain significance
Select item 3235119	NM_147191.1(MMP21):c.854T>C (p.Ile285Thr)	MMP21 (I285T)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 7, autosomal	GPathogenic
Select item 3235113	NC_000010.11:g.125772345_125778250del	MMP21	Deletion	Heterotaxy, visceral, 7, autosomal	GPathogenic
Select item 3235117	NM_147191.1(MMP21):c.847C>T (p.His283Tyr)	MMP21 (H283Y)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 7, autosomal	GPathogenic
Select item 2446529	NM_147191.1(MMP21):c.832C>G (p.Leu278Val)	MMP21 (L278V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2387184	NM_147191.1(MMP21):c.827G>A (p.Ser276Asn)	MMP21 (S276N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517324	NM_147191.1(MMP21):c.818C>T (p.Thr273Met)	MMP21 (T273M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1806533	NM_147191.1(MMP21):c.793C>G (p.His265Asp)	MMP21 (H265D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2640956	NM_147191.1(MMP21):c.792G>A (p.Glu264=)	MMP21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 717298	NM_147191.1(MMP21):c.786C>T (p.Asp262=)	MMP21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2632338	NM_147191.1(MMP21):c.738del (p.Gln247fs)	MMP21 (Q247fs)	Deletion (frameshift variant)	MMP21-related disorder	GLikely pathogenic
Select item 1187167	NM_147191.1(MMP21):c.736G>A (p.Gly246Arg)	MMP21 (G246R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 707017	NM_147191.1(MMP21):c.732G>C (p.Gly244=)	MMP21	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2277602	NM_147191.1(MMP21):c.719G>A (p.Arg240Gln)	MMP21 (R240Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 792306	NM_147191.1(MMP21):c.698-9C>G	MMP21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 766775	NM_147191.1(MMP21):c.697+10C>G	MMP21	Single nucleotide variant (intron variant)	Heterotaxy, visceral, 7, autosomal +1 more	GBenign/Likely benign
Select item 3235111	NM_147191.1(MMP21):c.677T>C (p.Ile226Thr)	MMP21 (I226T)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 7, autosomal	GPathogenic
Select item 2574499	NM_147191.1(MMP21):c.653C>G (p.Ala218Gly)	MMP21 (A218G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 545547	NM_147191.1(MMP21):c.643G>A (p.Glu215Lys)	MMP21 (E215K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3161989	NM_147191.1(MMP21):c.626C>T (p.Thr209Met)	MMP21 (T209M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507422	NM_147191.1(MMP21):c.626C>G (p.Thr209Arg)	MMP21 (T209R)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 7, autosomal	GUncertain significance
Select item 2388343	NM_147191.1(MMP21):c.616A>G (p.Ser206Gly)	MMP21 (S206G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062262	NM_147191.1(MMP21):c.614G>A (p.Trp205Ter)	MMP21 (W205*)	Single nucleotide variant (nonsense)	Heterotaxy, visceral, 7, autosomal	GLikely pathogenic
Select item 767219	NM_147191.1(MMP21):c.558C>T (p.Ser186=)	MMP21	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 545548	NM_147191.1(MMP21):c.557G>T (p.Ser186Ile)	MMP21 (S186I)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 7, autosomal	GLikely pathogenic
Select item 3053446	NM_147191.1(MMP21):c.510C>A (p.Ala170=)	MMP21	Single nucleotide variant (synonymous variant)	MMP21-related disorder	GLikely benign
Select item 2920762	NM_147191.1(MMP21):c.486C>T (p.Tyr162=)	MMP21	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 7, autosomal	GBenign
Select item 2597835	NM_147191.1(MMP21):c.476C>T (p.Pro159Leu)	MMP21 (P159L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3161859	NM_147191.1(MMP21):c.451T>C (p.Ser151Pro)	MMP21 (S151P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3373104	NM_147191.1(MMP21):c.430C>A (p.Arg144Ser)	MMP21 (R144S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2346561	NM_147191.1(MMP21):c.425C>G (p.Ser142Cys)	MMP21 (S142C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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