ClinVar for Gene (Select 4318) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3295354	NM_004994.3(MMP9):c.532G>C (p.Gly178Arg)	MMP9 (G178R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295353	NM_004994.3(MMP9):c.728C>T (p.Ala243Val)	MMP9 (A243V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295352	NM_004994.3(MMP9):c.1694G>T (p.Arg565Leu)	MMP9, SLC12A5-AS1 (R565L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3295351	NM_004994.3(MMP9):c.1004C>G (p.Ser335Trp)	MMP9 (S335W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295349	NM_004994.3(MMP9):c.13C>A (p.Gln5Lys)	MMP9 (Q5K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248346	NC_000020.10:g.(?_44577592)_(45362473_?)del	CD40, CDH22 +12 more	Deletion	not provided	GPathogenic
Select item 3248279	NC_000020.10:g.(?_42223339)_(45362473_?)del	ACOT8, ADA +72 more	Deletion	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic
Select item 3248233	NC_000020.10:g.(?_44519965)_(44751017_?)del	CD40, CTSA +6 more	Deletion	Combined deficiency of sialidase AND beta galactosidase	GPathogenic
Select item 3234803	NM_004994.3(MMP9):c.1380G>A (p.Gln460=)	MMP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3170134	NM_004994.3(MMP9):c.94C>T (p.Pro32Ser)	MMP9 (P32S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170080	NM_004994.3(MMP9):c.866A>G (p.Gln289Arg)	MMP9 (Q289R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170046	NM_004994.3(MMP9):c.842G>C (p.Gly281Ala)	MMP9 (G281A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169992	NM_004994.3(MMP9):c.719C>G (p.Ser240Cys)	MMP9 (S240C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169824	NM_004994.3(MMP9):c.548G>C (p.Gly183Ala)	MMP9 (G183A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169759	NM_004994.3(MMP9):c.2108A>G (p.Gln703Arg)	MMP9, SLC12A5-AS1 (Q703R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169663	NM_004994.3(MMP9):c.1910T>G (p.Val637Gly)	LOC130065978, MMP9 +1 more (V637G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3169601	NM_004994.3(MMP9):c.1648C>T (p.Pro550Ser)	MMP9, SLC12A5-AS1 (P550S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3064054	NM_004994.3(MMP9):c.393C>A (p.Asp131Glu)	MMP9 (D131E)	Single nucleotide variant (missense variant)	Metaphyseal anadysplasia 2	Gnot provided
Select item 3055734	NM_004994.3(MMP9):c.1720C>A (p.Arg574=)	MMP9, SLC12A5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	MMP9-related disorder	GLikely benign
Select item 3039334	NM_004994.3(MMP9):c.371+7C>G	MMP9	Single nucleotide variant (intron variant)	MMP9-related disorder	GLikely benign
Select item 3022121	NM_004994.3(MMP9):c.1695C>G (p.Arg565=)	MMP9, SLC12A5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3019424	NM_004994.3(MMP9):c.1193T>C (p.Val398Ala)	MMP9 (V398A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3018466	NM_004994.3(MMP9):c.630G>A (p.Trp210Ter)	MMP9 (W210*)	Single nucleotide variant (nonsense)	Metaphyseal anadysplasia 2 +1 more	GConflicting classifications of pathogenicity
Select item 3013345	NM_004994.3(MMP9):c.650-20G>A	MMP9	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3012177	NM_004994.3(MMP9):c.1751-16C>A	MMP9, SLC12A5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3010140	NM_004994.3(MMP9):c.1735C>T (p.Leu579Phe)	MMP9, SLC12A5-AS1 (L579F)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3010012	NM_004994.3(MMP9):c.1516A>T (p.Thr506Ser)	MMP9 (T506S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3007385	NM_004994.3(MMP9):c.1954C>T (p.Arg652Trp)	LOC130065978, MMP9 +1 more (R652W)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3004899	NM_004994.3(MMP9):c.1119C>T (p.Cys373=)	MMP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004409	NM_004994.3(MMP9):c.650-2A>T	MMP9	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 3002311	NM_004994.3(MMP9):c.1175-13C>G	MMP9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002195	NM_004994.3(MMP9):c.71G>A (p.Arg24His)	MMP9 (R24H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3001948	NM_004994.3(MMP9):c.943G>A (p.Ala315Thr)	MMP9 (A315T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3000904	NM_004994.3(MMP9):c.1290dup (p.His432fs)	MMP9 (H432fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2993952	NM_004994.3(MMP9):c.893C>G (p.Ser298Cys)	MMP9 (S298C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2987011	NM_004994.3(MMP9):c.504C>A (p.Ile168=)	MMP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984061	NM_004994.3(MMP9):c.1721G>T (p.Arg574Leu)	MMP9, SLC12A5-AS1 (R574L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2976137	NM_004994.3(MMP9):c.520+18G>A	MMP9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975577	NM_004994.3(MMP9):c.1635C>A (p.Gly545=)	MMP9, SLC12A5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2973050	NM_004994.3(MMP9):c.484C>T (p.Arg162Trp)	MMP9 (R162W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2963389	NM_004994.3(MMP9):c.1835A>T (p.Gln612Leu)	SLC12A5-AS1, MMP9 (Q612L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2961935	NM_004994.3(MMP9):c.650-17C>T	MMP9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958075	NM_004994.3(MMP9):c.823+14C>T	MMP9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956643	NM_004994.3(MMP9):c.264C>T (p.Ser88=)	MMP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2954812	NM_004994.3(MMP9):c.1977G>A (p.Leu659=)	MMP9, SLC12A5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2920385	NM_004994.3(MMP9):c.764G>A (p.Trp255Ter)	MMP9 (W255*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2919711	NM_004994.3(MMP9):c.1844G>A (p.Gly615Glu)	MMP9, SLC12A5-AS1 (G615E)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2911737	NM_004994.3(MMP9):c.27G>T (p.Leu9=)	MMP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2908335	NM_004994.3(MMP9):c.1250C>T (p.Ala417Val)	MMP9 (A417V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2903282	NM_004994.3(MMP9):c.884A>C (p.Gln295Pro)	MMP9 (Q295P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2893738	NM_004994.3(MMP9):c.760C>A (p.Pro254Thr)	MMP9 (P254T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2892703	NM_004994.3(MMP9):c.1032G>A (p.Gly344=)	MMP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888541	NM_004994.3(MMP9):c.678T>C (p.Asp226=)	MMP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2883512	NM_004994.3(MMP9):c.359A>G (p.Asn120Ser)	MMP9 (N120S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2883500	NM_004994.3(MMP9):c.1673A>G (p.Asp558Gly)	MMP9, SLC12A5-AS1 (D558G)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2880495	NM_004994.3(MMP9):c.1017G>C (p.Gly339=)	MMP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2879419	NM_004994.3(MMP9):c.1228G>C (p.Asp410His)	MMP9 (D410H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2872930	NM_004994.3(MMP9):c.1932C>T (p.Pro644=)	LOC130065978, MMP9 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2872629	NM_004994.3(MMP9):c.1862G>A (p.Arg621Lys)	LOC130065978, MMP9 +1 more (R621K)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2872450	NM_004994.3(MMP9):c.521-19T>C	MMP9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2869507	NM_004994.3(MMP9):c.2074G>A (p.Asp692Asn)	MMP9, SLC12A5-AS1 (D692N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2864546	NM_004994.3(MMP9):c.275A>G (p.Lys92Arg)	MMP9 (K92R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2864515	NM_004994.3(MMP9):c.1710C>T (p.Val570=)	MMP9, SLC12A5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2848875	NM_004994.3(MMP9):c.396G>A (p.Leu132=)	MMP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2838509	NM_004994.3(MMP9):c.1158C>A (p.Gly386=)	MMP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2820484	NM_004994.3(MMP9):c.1465C>T (p.Pro489Ser)	MMP9 (P489S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2819897	NM_004994.3(MMP9):c.956A>G (p.Asn319Ser)	MMP9 (N319S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2813388	NM_004994.3(MMP9):c.1102G>A (p.Asp368Asn)	MMP9 (D368N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2807458	NM_004994.3(MMP9):c.1849C>T (p.Leu617Phe)	LOC130065978, MMP9 +1 more (L617F)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2804728	NM_004994.3(MMP9):c.934C>G (p.Arg312Gly)	MMP9 (R312G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2798000	NM_004994.3(MMP9):c.1224C>A (p.Gly408=)	MMP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2797301	NM_004994.3(MMP9):c.520+19A>C	MMP9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2791553	NM_004994.3(MMP9):c.1149del (p.Lys384fs)	MMP9 (K384fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2782800	NM_004994.3(MMP9):c.2048G>C (p.Ser683Thr)	MMP9, SLC12A5-AS1 (S683T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2779216	NM_004994.3(MMP9):c.1902-11C>G	LOC130065978, MMP9 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2778315	NM_004994.3(MMP9):c.438A>G (p.Ala146=)	MMP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2776435	NM_004994.3(MMP9):c.1975T>G (p.Leu659Val)	MMP9, SLC12A5-AS1 (L659V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2770335	NM_004994.3(MMP9):c.1837G>C (p.Val613Leu)	MMP9, SLC12A5-AS1 (V613L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2765258	NM_004994.3(MMP9):c.1937G>T (p.Ser646Ile)	LOC130065978, MMP9 +1 more (S646I)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2761224	NM_004994.3(MMP9):c.911C>T (p.Thr304Met)	MMP9 (T304M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2758346	NM_004994.3(MMP9):c.1174+5G>A	MMP9	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2755651	NM_004994.3(MMP9):c.1759G>C (p.Val587Leu)	MMP9, SLC12A5-AS1 (V587L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2755154	NM_004994.3(MMP9):c.240G>A (p.Leu80=)	MMP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2751452	NM_004994.3(MMP9):c.1902-18C>G	LOC130065978, MMP9 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2728375	NM_004994.3(MMP9):c.28G>A (p.Val10Met)	MMP9 (V10M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2719950	NM_004994.3(MMP9):c.653T>C (p.Val218Ala)	MMP9 (V218A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2719872	NM_004994.3(MMP9):c.543C>T (p.Phe181=)	MMP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2689435	NM_004994.3(MMP9):c.831C>A (p.Tyr277Ter)	MMP9 (Y277*)	Single nucleotide variant (nonsense)	Metaphyseal anadysplasia 2	GUncertain significance
Select item 2621461	NM_004994.3(MMP9):c.1268A>G (p.Tyr423Cys)	MMP9 (Y423C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614564	NM_004994.3(MMP9):c.928G>C (p.Gly310Arg)	MMP9 (G310R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609674	NM_004994.3(MMP9):c.985T>G (p.Cys329Gly)	MMP9 (C329G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607627	NM_004994.3(MMP9):c.1288C>T (p.Pro430Ser)	MMP9 (P430S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552100	NM_004994.3(MMP9):c.1912A>C (p.Lys638Gln)	LOC130065978, MMP9 +1 more (K638Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2542443	NM_004994.3(MMP9):c.818G>T (p.Ser273Ile)	MMP9 (S273I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529029	NM_004994.3(MMP9):c.1173A>C (p.Gln391His)	MMP9 (Q391H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2502568	NM_004994.3(MMP9):c.372-152_372-151insCAAACAAACA	MMP9	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2498140	NM_004994.3(MMP9):c.151C>T (p.Arg51Cys)	MMP9 (R51C)	Single nucleotide variant (missense variant)	Metaphyseal anadysplasia 2	GLikely pathogenic
Select item 2498120	NM_004994.3(MMP9):c.929del (p.Gly310fs)	MMP9 (G310fs)	Deletion (frameshift variant)	Metaphyseal anadysplasia 2	GLikely pathogenic
Select item 2425559	NC_000020.10:g.(?_42223339)_(44638757_?)del	ACOT8, ADA +60 more	Deletion	Combined immunodeficiency due to STK4 deficiency	GPathogenic
Select item 2425273	NC_000020.10:g.(?_44639387)_(44641168_?)del	MMP9	Deletion	not provided	GUncertain significance

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