Related gene-specific medical variations for Gene (Select 109729184) - ClinVar

Links from Gene

Items: 99

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3055734	NM_004994.3(MMP9):c.1720C>A (p.Arg574=)	MMP9, SLC12A5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	MMP9-related condition	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 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 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 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 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 2963389	NM_004994.3(MMP9):c.1835A>T (p.Gln612Leu)	MMP9, SLC12A5-AS1 (Q612L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
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 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 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 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 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 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 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 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 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 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 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 2652358	NM_001134771.2(SLC12A5):c.121+8C>A	LOC130065980, SLC12A5 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2652357	NM_001134771.2(SLC12A5):c.107G>A (p.Gly36Glu)	LOC130065980, SLC12A5 +1 more (G36E)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2652356	NM_001134771.2(SLC12A5):c.34C>G (p.Pro12Ala)	LOC130065980, SLC12A5 +1 more (P12A)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2628353	NM_001134771.2(SLC12A5):c.116T>A (p.Val39Asp)	LOC130065980, SLC12A5 +1 more (V39D)	Single nucleotide variant (non-coding transcript variant +1 more)	Developmental and epileptic encephalopathy, 34	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 2421053	NM_004994.3(MMP9):c.1610+10C>T	MMP9, SLC12A5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2392156	NM_004994.3(MMP9):c.2053C>T (p.Arg685Trp)	MMP9, SLC12A5-AS1 (R685W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2228333	NM_001134771.2(SLC12A5):c.8G>A (p.Arg3His)	LOC130065980, SLC12A5 +1 more (R3H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2223948	NM_004994.3(MMP9):c.1727C>G (p.Ser576Cys)	MMP9, SLC12A5-AS1 (S576C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2223814	NM_001134771.2(SLC12A5):c.121+4G>C	LOC130065980, SLC12A5 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2190412	NM_004994.3(MMP9):c.2107C>A (p.Gln703Lys)	MMP9, SLC12A5-AS1 (Q703K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2183776	NM_004994.3(MMP9):c.1892G>A (p.Arg631His)	LOC130065978, MMP9 +1 more (R631H)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2129386	NM_004994.3(MMP9):c.1596T>C (p.Tyr532=)	MMP9, SLC12A5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2128992	NM_004994.3(MMP9):c.1888C>T (p.Arg630Trp)	LOC130065978, MMP9 +1 more (R630W)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2104724	NM_004994.3(MMP9):c.1963C>G (p.Pro655Ala)	LOC130065978, MMP9 +1 more (P655A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2083113	NM_004994.3(MMP9):c.1902-15C>T	LOC130065978, MMP9 +1 more	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2058033	NM_004994.3(MMP9):c.1711T>G (p.Phe571Val)	MMP9, SLC12A5-AS1 (F571V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1981878	NM_004994.3(MMP9):c.2026G>A (p.Asp676Asn)	MMP9, SLC12A5-AS1 (D676N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1980425	NM_004994.3(MMP9):c.1902-19C>A	LOC130065978, MMP9 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1968489	NM_004994.3(MMP9):c.1725C>G (p.Leu575=)	MMP9, SLC12A5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1966997	NM_004994.3(MMP9):c.1944C>A (p.Ser648Arg)	LOC130065978, MMP9 +1 more (S648R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1956015	NM_004994.3(MMP9):c.1794G>C (p.Pro598=)	MMP9, SLC12A5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1943003	NM_004994.3(MMP9):c.1944C>T (p.Ser648=)	LOC130065978, MMP9 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1933835	NM_004994.3(MMP9):c.1965C>T (p.Pro655=)	LOC130065978, MMP9 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1931183	NM_004994.3(MMP9):c.1864G>C (p.Gly622Arg)	LOC130065978, MMP9 +1 more (G622R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1908793	NM_004994.3(MMP9):c.2057G>A (p.Ser686Asn)	MMP9, SLC12A5-AS1 (S686N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1707132	NM_004994.3(MMP9):c.1750+75C>T	MMP9, LOC100128028 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1683283	NM_001134771.2(SLC12A5):c.74G>A (p.Arg25Gln)	LOC130065980, SLC12A5 +1 more (R25Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1675859	NM_001134771.2(SLC12A5):c.32C>G (p.Pro11Arg)	LOC130065980, SLC12A5 +1 more (P11R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1675858	NM_004994.3(MMP9):c.1743C>T (p.Phe581=)	MMP9, SLC12A5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1610985	NM_004994.3(MMP9):c.1758G>A (p.Gln586=)	MMP9, SLC12A5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1594658	NM_004994.3(MMP9):c.1710C>G (p.Val570=)	MMP9, SLC12A5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1544341	NM_004994.3(MMP9):c.1902-4G>A	LOC130065978, MMP9 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1538818	NM_004994.3(MMP9):c.2005+19C>T	SLC12A5-AS1, MMP9	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1488487	NM_004994.3(MMP9):c.1901+6C>T	LOC130065978, MMP9 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1485432	NM_004994.3(MMP9):c.1801C>G (p.Leu601Val)	MMP9, SLC12A5-AS1 (L601V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1471318	NM_004994.3(MMP9):c.1902-6C>G	MMP9, SLC12A5-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1426148	NM_004994.3(MMP9):c.2044G>A (p.Val682Met)	MMP9, SLC12A5-AS1 (V682M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1421424	NM_004994.3(MMP9):c.1964C>T (p.Pro655Leu)	LOC130065978, MMP9 +1 more (P655L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1411123	NM_004994.3(MMP9):c.1938C>G (p.Ser646Arg)	LOC130065978, MMP9 +1 more (S646R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1357108	NM_004994.3(MMP9):c.1885G>C (p.Gly629Arg)	LOC130065978, MMP9 +1 more (G629R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1354708	NM_004994.3(MMP9):c.1807A>G (p.Lys603Glu)	MMP9, SLC12A5-AS1 (K603E)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1351392	NM_004994.3(MMP9):c.1681C>T (p.Pro561Ser)	MMP9, SLC12A5-AS1 (P561S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1341712	NM_001134771.2(SLC12A5):c.5G>A (p.Ser2Asn)	LOC130065980, SLC12A5 +1 more (S2N)	Single nucleotide variant (non-coding transcript variant +1 more)	Developmental and epileptic encephalopathy, 34 +1 more	GUncertain significance
Select item 1260003	NR_147699.1(SLC12A5-AS1):n.395T>A	LOC130065979, SLC12A5 +1 more	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 1197675	NM_004994.3(MMP9):c.1750+52A>G	MMP9, SLC12A5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1180110	NM_004994.3(MMP9):c.1750+97T>C	MMP9, SLC12A5-AS1	Single nucleotide variant (intron variant +1 more)	not provided	GBenign
Select item 1035934	NM_004994.3(MMP9):c.2089G>A (p.Val697Met)	MMP9, SLC12A5-AS1 (V697M)	Single nucleotide variant (missense variant)	Metaphyseal anadysplasia 2 +1 more	GUncertain significance
Select item 898846	NM_004994.3(MMP9):c.1925T>C (p.Val642Ala)	LOC130065978, MMP9 +1 more (V642A)	Single nucleotide variant (missense variant +1 more)	Metaphyseal anadysplasia 2	GUncertain significance
Select item 898845	NM_004994.3(MMP9):c.1906G>C (p.Asp636His)	LOC130065978, MMP9 +1 more (D636H)	Single nucleotide variant (missense variant +1 more)	Metaphyseal anadysplasia 2	GUncertain significance
Select item 895884	NM_004994.3(MMP9):c.2071G>A (p.Val691Met)	LOC100128028, MMP9 +1 more (V691M)	Single nucleotide variant (missense variant)	Metaphyseal anadysplasia 2	GUncertain significance
Select item 872727	NM_001134771.2(SLC12A5):c.71G>A (p.Arg24His)	LOC130065980, SLC12A5 +1 more (R24H)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 749591	NM_004994.3(MMP9):c.2043C>T (p.Arg681=)	MMP9, SLC12A5-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 741450	NM_004994.3(MMP9):c.2088C>T (p.Tyr696=)	MMP9, SLC12A5-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 732688	NM_004994.3(MMP9):c.2022C>T (p.Cys674=)	MMP9, SLC12A5-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 726076	NM_004994.3(MMP9):c.1671C>T (p.Ala557=)	MMP9, SLC12A5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 631876	NM_004994.3(MMP9):c.1764G>A (p.Trp588Ter)	MMP9, SLC12A5-AS1 (W588*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 631875	NM_004994.3(MMP9):c.1679G>A (p.Trp560Ter)	MMP9, SLC12A5-AS1 (W560*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 597532	NM_004994.3(MMP9):c.1591C>T (p.Leu531=)	MMP9, SLC12A5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 593877	NM_004994.3(MMP9):c.2074G>C (p.Asp692His)	MMP9, SLC12A5-AS1 +1 more (D692H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 500498	NM_004994.3(MMP9):c.2002C>G (p.Arg668Gly)	MMP9, SLC12A5-AS1 (R668G)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 499772	NM_004994.3(MMP9):c.*7C>T	LOC100128028, MMP9 +1 more	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 338564	NM_004994.3(MMP9):c.*189C>T	LOC100128028, MMP9 +1 more	Single nucleotide variant (3 prime UTR variant)	Metaphyseal anadysplasia 2	GUncertain significance
Select item 338563	NM_004994.3(MMP9):c.*146T>C	SLC12A5-AS1, MMP9	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 338562	NM_004994.3(MMP9):c.*3C>T	SLC12A5-AS1, MMP9	Single nucleotide variant (3 prime UTR variant)	Metaphyseal anadysplasia 2 +1 more	GBenign
Select item 338561	NM_004994.3(MMP9):c.2082G>A (p.Val694=)	MMP9, SLC12A5-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 338560	NM_004994.3(MMP9):c.2042G>A (p.Arg681His)	LOC100128028, MMP9 +1 more (R681H)	Single nucleotide variant (missense variant)	Metaphyseal anadysplasia 2	GUncertain significance
Select item 338559	NM_004994.3(MMP9):c.2003G>A (p.Arg668Gln)	MMP9, SLC12A5-AS1 (R668Q)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 338558	NM_004994.3(MMP9):c.1891C>A (p.Arg631Ser)	MMP9, SLC12A5-AS1 +1 more (R631S)	Single nucleotide variant (non-coding transcript variant +1 more)	Metaphyseal anadysplasia 2 +1 more	GConflicting classifications of pathogenicity
Select item 338557	NM_004994.3(MMP9):c.1671C>A (p.Ala557=)	MMP9, SLC12A5-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Metaphyseal anadysplasia 2	GUncertain significance
Select item 287630	NM_004994.3(MMP9):c.1896C>T (p.Leu632=)	LOC130065978, MMP9 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 285363	NM_004994.3(MMP9):c.1821A>C (p.Gly607=)	MMP9, SLC12A5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +2 more	GBenign
Select item 282093	NM_004994.3(MMP9):c.1721G>C (p.Arg574Pro)	MMP9, SLC12A5-AS1 (R574P)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 99