ClinVar for Gene (Select 4320) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3295277	NM_005940.5(MMP11):c.524G>A (p.Gly175Asp)	MMP11 (G175D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3295276	NM_005940.5(MMP11):c.187C>T (p.Pro63Ser)	MMP11 (P63S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3295275	NM_005940.5(MMP11):c.718C>T (p.Arg240Cys)	MMP11 (R240C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3295274	NM_005940.5(MMP11):c.790G>A (p.Val264Ile)	MMP11 (V264I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3295273	NM_005940.5(MMP11):c.1033G>A (p.Ala345Thr)	MMP11 (A345T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3295272	NM_005940.5(MMP11):c.1261C>A (p.Pro421Thr)	MMP11 (P421T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3295271	NM_005940.5(MMP11):c.323C>T (p.Thr108Met)	MMP11 (T108M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295270	NM_005940.5(MMP11):c.958C>T (p.Arg320Cys)	MMP11 (R320C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3295269	NM_005940.5(MMP11):c.1358G>A (p.Arg453His)	MMP11 (R453H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3295268	NM_005940.5(MMP11):c.940G>T (p.Gly314Cys)	MMP11 (G314C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3295267	NM_005940.5(MMP11):c.236G>A (p.Arg79His)	MMP11 (R79H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3151700	NM_005940.5(MMP11):c.831A>G (p.Ile277Met)	MMP11 (I277M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3151399	NM_005940.5(MMP11):c.37C>T (p.Arg13Cys)	MMP11 (R13C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3151136	NM_005940.5(MMP11):c.158C>A (p.Ala53Glu)	MMP11 (A53E)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3151021	NM_005940.5(MMP11):c.13G>A (p.Ala5Thr)	MMP11 (A5T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150989	NM_005940.5(MMP11):c.1357C>T (p.Arg453Cys)	MMP11 (R453C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150953	NM_005940.5(MMP11):c.1354G>A (p.Gly452Ser)	MMP11 (G452S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148953	GRCh37/hg19 22q11.23(chr22:23702548-25008068)x3	ADORA2A, C22orf15 +25 more	Copy number gain	not provided	GUncertain significance
Select item 3148894	GRCh37/hg19 22q11.21-11.23(chr22:21804597-24629406)x3	BCR, C22orf15 +43 more	Copy number gain	not provided	GUncertain significance
Select item 3148891	GRCh37/hg19 22q11.23(chr22:23652549-25002659)x3	ADORA2A, BCR +26 more	Copy number gain	See cases	GPathogenic
Select item 2684933	GRCh37/hg19 22q11.23(chr22:23690388-25066472)x3	ADORA2A, C22orf15 +25 more	Copy number gain	not provided	GPathogenic
Select item 2672922	GRCh37/hg19 22q11.22-11.23(chr22:22989453-25019883)x3	ADORA2A, BCR +32 more	Copy number gain	not provided	GLikely pathogenic
Select item 2601527	NM_005940.5(MMP11):c.988G>A (p.Ala330Thr)	MMP11 (A330T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2580295	GRCh37/hg19 22q11.23(chr22:23658260-25114888)x3	ADORA2A, BCR +26 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 2538740	NM_005940.5(MMP11):c.1250G>A (p.Arg417His)	MMP11 (R417H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516907	NM_005940.5(MMP11):c.601A>G (p.Ile201Val)	MMP11 (I201V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509280	NM_005940.5(MMP11):c.658G>A (p.Val220Met)	MMP11 (V220M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2506549	GRCh37/hg19 22q11.22-11.23(chr22:22893189-24177119)	BCR, C22orf15 +16 more	Copy number loss	Schwannomatosis 1	GPathogenic
Select item 2494941	NM_005940.5(MMP11):c.1352G>A (p.Arg451His)	MMP11 (R451H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486239	NM_005940.5(MMP11):c.1412G>A (p.Arg471His)	MMP11 (R471H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485566	NM_005940.5(MMP11):c.821A>G (p.Gln274Arg)	MMP11 (Q274R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477521	NM_005940.5(MMP11):c.509T>G (p.Phe170Cys)	MMP11 (F170C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472288	NM_005940.5(MMP11):c.208C>T (p.Arg70Trp)	MMP11 (R70W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461550	NM_005940.5(MMP11):c.757G>A (p.Val253Ile)	MMP11 (V253I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2455757	NM_005940.5(MMP11):c.1264G>A (p.Val422Met)	MMP11 (V422M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2412058	NM_005940.5(MMP11):c.605G>T (p.Gly202Val)	MMP11 (G202V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402373	NM_005940.5(MMP11):c.194C>T (p.Thr65Met)	MMP11 (T65M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391610	NM_005940.5(MMP11):c.1351C>T (p.Arg451Cys)	MMP11 (R451C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372245	NM_005940.5(MMP11):c.757G>T (p.Val253Phe)	MMP11 (V253F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333708	NM_005940.5(MMP11):c.112G>T (p.Ala38Ser)	MMP11 (A38S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328856	NM_005940.5(MMP11):c.1309G>A (p.Asp437Asn)	MMP11 (D437N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324489	NM_005940.5(MMP11):c.5C>A (p.Ala2Asp)	MMP11 (A2D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311803	NM_005940.5(MMP11):c.260A>G (p.Asp87Gly)	MMP11 (D87G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311242	NM_005940.5(MMP11):c.1123G>A (p.Ala375Thr)	MMP11 (A375T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309660	NM_005940.5(MMP11):c.1166C>T (p.Ala389Val)	MMP11 (A389V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307151	NM_005940.5(MMP11):c.272C>T (p.Ala91Val)	MMP11 (A91V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306380	NM_005940.5(MMP11):c.379C>T (p.Arg127Trp)	MMP11 (R127W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305107	NM_005940.5(MMP11):c.295G>A (p.Val99Met)	MMP11 (V99M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303754	NM_005940.5(MMP11):c.839A>G (p.Asn280Ser)	MMP11 (N280S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299771	NM_005940.5(MMP11):c.151T>A (p.Trp51Arg)	MMP11 (W51R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299263	NM_005940.5(MMP11):c.1105A>G (p.Lys369Glu)	MMP11 (K369E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285827	NM_005940.5(MMP11):c.728T>C (p.Leu243Pro)	MMP11 (L243P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262565	NM_005940.5(MMP11):c.1174G>T (p.Val392Phe)	MMP11 (V392F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261945	NM_005940.5(MMP11):c.1250G>C (p.Arg417Pro)	MMP11 (R417P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246933	NM_005940.5(MMP11):c.323C>G (p.Thr108Arg)	MMP11 (T108R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222974	NM_005940.5(MMP11):c.28G>C (p.Ala10Pro)	MMP11 (A10P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221419	NM_005940.5(MMP11):c.1247G>A (p.Arg416Gln)	MMP11 (R416Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219517	NM_005940.5(MMP11):c.1444G>A (p.Glu482Lys)	MMP11 (E482K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204260	NM_005940.5(MMP11):c.250G>A (p.Asp84Asn)	MMP11 (D84N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808733	GRCh37/hg19 22q11.22-11.23(chr22:22953515-24995256)x3	ADORA2A, BCR +32 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808567	GRCh37/hg19 22q11.23(chr22:23650872-25002483)x3	ADORA2A, BCR +26 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808230	GRCh37/hg19 22q11.22-11.23(chr22:22997929-24995256)x3	ADORA2A, BCR +31 more	Copy number gain	not provided	GPathogenic
Select item 1807709	GRCh37/hg19 22q11.23(chr22:23650201-24992266)x3	ADORA2A, BCR +26 more	Copy number gain	not provided	GLikely pathogenic
Select item 1704348	GRCh37/hg19 22q11.23(chr22:23652519-25059631)x3	ADORA2A, BCR +26 more	Copy number gain	Unilateral renal agenesis	GUncertain significance
Select item 1703645	GRCh37/hg19 22q11.21-11.23(chr22:21798906-25039018)	ADORA2A, BCR +50 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 1442392	NC_000022.10:g.(?_23915453)_(24237293_?)del	C22orf15, CHCHD10 +10 more	Deletion	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 1340764	GRCh37/hg19 22q11.21-11.23(chr22:21465661-24631791)x3	BCR, C22orf15 +45 more	Copy number gain	not provided	GPathogenic
Select item 1330169	GRCh37/hg19 22q11.22-11.23(chr22:23166334-24237343)x3	BCR, C22orf15 +16 more	Copy number gain	Generalized-onset seizure +1 more	GUncertain significance
Select item 1328446	GRCh37/hg19 22q11.23(chr22:23689960-25000632)x3	DDT, ADORA2A +25 more	Copy number gain	not provided	GUncertain significance
Select item 1213705	NC_000022.11:g.23774226_23859697dup	DERL3, LOC111721701 +3 more	Duplication	Intellectual disability, autosomal dominant 15	GUncertain significance
Select item 1004379	NC_000022.10:g.(?_23915453)_(24921762_?)dup	CABIN1, CHCHD10 +21 more	Duplication	not provided	GUncertain significance
Select item 997818	Single allele	DERL3, DRICH1 +25 more	Duplication	Epilepsy +1 more	GPathogenic
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 983159	GRCh37/hg19 22q11.23(chr22:23720181-25066484)x3	GGT5, ZNF70 +25 more	Copy number gain	See cases	GUncertain significance
Select item 981206	GRCh37/hg19 22q11.1-12.1(chr22:16888899-26483608)x3	RTN4R, SCARF2 +124 more	Copy number gain	Cat eye syndrome +1 more	GPathogenic
Select item 979600	GRCh37/hg19 22q11.23(chr22:23650873-25043046)x3	LRRC75B, MIF +26 more	Copy number gain	not provided	GPathogenic
Select item 979598	GRCh37/hg19 22q11.22-11.23(chr22:23258368-25059827)x3	DDTL, GUCD1 +29 more	Copy number gain	not provided	GPathogenic
Select item 816211	GRCh37/hg19 22q11.23(chr22:23650871-25066472)x3	ADORA2A, DDTL +26 more	Copy number gain	not provided	GPathogenic
Select item 816209	GRCh37/hg19 22q11.22-11.23(chr22:22953514-25002483)x3	GSTT1, CHCHD10 +32 more	Copy number gain	not provided	GLikely pathogenic
Select item 816203	GRCh37/hg19 22q11.21-11.23(chr22:20732808-25193541)x3	ADORA2A, AIFM3 +66 more	Copy number gain	not provided	GPathogenic
Select item 816197	GRCh37/hg19 22q11.1-12.1(chr22:16888899-27657507)x3	HIC2, HIRA +133 more	Copy number gain	not provided	GPathogenic
Select item 743973	NM_005940.5(MMP11):c.756C>T (p.Gly252=)	MMP11	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 710387	NM_005940.5(MMP11):c.1134C>A (p.Thr378=)	MMP11	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 688980	GRCh37/hg19 22q11.23(chr22:23698818-25042987)x3	ADORA2A, C22orf15 +25 more	Copy number gain	not provided	GPathogenic
Select item 688543	GRCh37/hg19 22q11.23(chr22:23650200-25066472)x3	ADORA2A, BCR +26 more	Copy number gain	not provided	GPathogenic
Select item 686931	GRCh37/hg19 22q11.22-11.23(chr22:22962196-25059631)x3	SMARCB1, SNRPD3 +32 more	Copy number gain	not provided	GPathogenic
Select item 685920	GRCh37/hg19 22q11.22-11.23(chr22:22962195-25002659)x3	ADORA2A, BCR +32 more	Copy number gain	not provided	GPathogenic
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 684928	GRCh37/hg19 22q11.23(chr22:23650871-25066472)x3	GSTT2, IGLL1 +26 more	Copy number gain	not provided	GPathogenic
Select item 684901	GRCh37/hg19 22q11.22-11.23(chr22:22962196-25145601)x3	GUCD1, IGLC1 +33 more	Copy number gain	not provided	GPathogenic
Select item 636297	GRCh37/hg19 22q11.23(chr22:23652517-25002659)x3	ADORA2A, BCR +26 more	Copy number gain	22q11.2 distal duplication syndrome	GUncertain significance
Select item 635766	GRCh37/hg19 22q11.22-11.23(chr22:22998284-25119103)x3	CHCHD10, CABIN1 +33 more	Copy number gain	Global developmental delay	GLikely pathogenic
Select item 625627	GRCh37/hg19 22q11.23(chr22:23653987-25158391)	ADORA2A, BCR +27 more	Copy number gain	not provided	GLikely pathogenic
Select item 565055	GRCh37/hg19 22q11.22-12.3(chr22:22460754-35198232)x3	ADORA2A, AP1B1 +129 more	Copy number gain	not provided	GPathogenic
Select item 565045	GRCh37/hg19 22q11.21-11.23(chr22:21465661-24885806)x1	ADORA2A, BCR +47 more	Copy number loss	not provided	GPathogenic
Select item 565043	GRCh37/hg19 22q11.21-11.23(chr22:21465661-24653491)x1	BCR, C22orf15 +45 more	Copy number loss	not provided	GPathogenic
Select item 565031	GRCh37/hg19 22q11.22-11.23(chr22:22951048-25156289)x3	DDT, ZNF70 +33 more	Copy number gain	not provided	GLikely pathogenic
Select item 565029	GRCh37/hg19 22q11.22-11.23(chr22:22945889-25059631)x3	GSTT2B, GNAZ +32 more	Copy number gain	not provided	GPathogenic
Select item 565019	GRCh37/hg19 22q11.23(chr22:23650871-25002659)x3	ADORA2A, UPB1 +26 more	Copy number gain	not provided	GLikely pathogenic
Select item 545275	Single allele	DDT, C22orf15 +78 more	Duplication	Schizophrenia	GLikely pathogenic

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