4422[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 150076	GRCh38/hg38 12q14.1-14.3(chr12:60907151-66568077)x1	AVPR1A, C12orf56 +144 more	Copy number loss	See cases	GPathogenic
Select item 3235055	GRCh38/hg38 12q14.2-15(chr12:63871239-67314524)	LOC124629394, LOC124629395 +108 more	Copy number loss	Silver-Russell syndrome 5	GUncertain significance
Select item 310163	NM_002076.4(GNS):c.3068_3069dup	GNS	Duplication (3 prime UTR variant)	Sanfilippo syndrome	GLikely benign
Select item 882267	NM_002076.4(GNS):c.*2844G>A	GNS	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 310164	NM_002076.4(GNS):c.*2843C>T	GNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-D	GUncertain significance
Select item 310165	NM_002076.4(GNS):c.*2787del	GNS	Deletion (3 prime UTR variant)	Sanfilippo syndrome	GUncertain significance
Select item 310166	NM_002076.4(GNS):c.*2783C>T	GNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-D	GUncertain significance
Select item 310167	NM_002076.4(GNS):c.*2751C>T	GNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 310168	NM_002076.4(GNS):c.*2740G>A	GNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-D	GUncertain significance
Select item 310169	NM_002076.4(GNS):c.*2735C>T	GNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-D +1 more	GUncertain significance
Select item 310170	NM_002076.4(GNS):c.*2699G>C	GNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-D	GUncertain significance
Select item 310171	NM_002076.4(GNS):c.*2656G>A	GNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-D	GUncertain significance
Select item 882533	NM_002076.4(GNS):c.*2625G>A	GNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-D	GUncertain significance
Select item 882534	NM_002076.4(GNS):c.*2612G>T	GNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-D	GUncertain significance
Select item 310172	NM_002076.4(GNS):c.*2611dup	GNS	Duplication (3 prime UTR variant)	Sanfilippo syndrome	GLikely benign
Select item 882535	NM_002076.4(GNS):c.*2571T>C	GNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-D	GUncertain significance
Select item 310173	NM_002076.4(GNS):c.*2560T>G	GNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-D	GUncertain significance
Select item 882536	NM_002076.4(GNS):c.*2489T>C	GNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-D	GUncertain significance
Select item 310174	NM_002076.4(GNS):c.*2447G>A	GNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-D	GUncertain significance
Select item 882537	NM_002076.4(GNS):c.*2406A>G	GNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-D	GUncertain significance
Select item 310175	NM_002076.4(GNS):c.*2361C>G	GNS	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 883317	NM_002076.4(GNS):c.*2301G>A	GNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-D	GUncertain significance
Select item 883318	NM_002076.4(GNS):c.*2278A>C	GNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-D	GUncertain significance
Select item 883319	NM_002076.4(GNS):c.*2146G>A	GNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-D	GUncertain significance
Select item 883320	NM_002076.4(GNS):c.*2099G>A	GNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-D	GUncertain significance
Select item 310176	NM_002076.4(GNS):c.*2032T>A	GNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-D	GUncertain significance
Select item 310177	NM_002076.4(GNS):c.*1990A>G	GNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-D	GBenign
Select item 880955	NM_002076.4(GNS):c.*1977A>G	GNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-D	GUncertain significance
Select item 310178	NM_002076.4(GNS):c.*1861del	GNS	Deletion (3 prime UTR variant)	Sanfilippo syndrome	GUncertain significance
Select item 880956	NM_002076.4(GNS):c.*1809T>C	GNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-D	GUncertain significance
Select item 310179	NM_002076.4(GNS):c.*1759A>G	GNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-D	GUncertain significance
Select item 310180	NM_002076.4(GNS):c.*1681C>G	GNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-D	GUncertain significance
Select item 310181	NM_002076.4(GNS):c.*1648C>T	GNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-D	GBenign
Select item 310182	NM_002076.4(GNS):c.*1580A>G	GNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-D	GUncertain significance
Select item 310183	NM_002076.4(GNS):c.*1456C>T	GNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-D +1 more	GBenign
Select item 880957	NM_002076.4(GNS):c.*1435G>A	GNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-D	GUncertain significance
Select item 310184	NM_002076.4(GNS):c.*1353G>A	GNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-D +1 more	GBenign
Select item 310185	NM_002076.4(GNS):c.*1228C>T	GNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-D +1 more	GBenign
Select item 310186	NM_002076.4(GNS):c.*985A>G	GNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-D	GUncertain significance
Select item 310187	NM_002076.4(GNS):c.*942A>G	GNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-D +1 more	GBenign
Select item 310188	NM_002076.4(GNS):c.*846C>T	GNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-D	GUncertain significance
Select item 310189	NM_002076.4(GNS):c.*826G>A	GNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-D	GUncertain significance
Select item 882316	NM_002076.4(GNS):c.*814T>C	GNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-D	GBenign
Select item 310190	NM_002076.4(GNS):c.*764G>A	GNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-D	GUncertain significance
Select item 310191	NM_002076.4(GNS):c.*734A>G	GNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-D	GUncertain significance
Select item 882584	NM_002076.4(GNS):c.*699G>C	GNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-D	GUncertain significance
Select item 310192	NM_002076.4(GNS):c.*676A>G	GNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-D	GUncertain significance
Select item 310193	NM_002076.4(GNS):c.*599T>A	GNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-D +1 more	GLikely benign
Select item 310194	NM_002076.4(GNS):c.*574G>A	GNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-D	GUncertain significance
Select item 310195	NM_002076.4(GNS):c.*566A>G	GNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-D	GBenign
Select item 310196	NM_002076.4(GNS):c.*425G>A	GNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-D	GUncertain significance
Select item 310197	NM_002076.4(GNS):c.*411G>A	GNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-D +1 more	GBenign
Select item 310198	NM_002076.4(GNS):c.*380C>T	GNS	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 310199	NM_002076.4(GNS):c.*357T>C	GNS	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 310200	NM_002076.4(GNS):c.*334C>T	GNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-D	GUncertain significance
Select item 310201	NM_002076.4(GNS):c.*319C>T	GNS	Single nucleotide variant (3 prime UTR variant)	Sanfilippo syndrome	GUncertain significance
Select item 310202	NM_002076.4(GNS):c.*269C>T	GNS	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 310203	NM_002076.4(GNS):c.*152G>A	GNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-D	GUncertain significance
Select item 883372	NM_002076.4(GNS):c.*86A>T	GNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-D	GUncertain significance
Select item 881006	NM_002076.4(GNS):c.*71T>C	GNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-D	GUncertain significance
Select item 310204	NM_002076.4(GNS):c.*37G>T	GNS	Single nucleotide variant (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-D +1 more	GUncertain significance
Select item 990668	NM_002076.4(GNS):c.*3dup	GNS	Duplication (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-D	GUncertain significance
Select item 1427123	NM_002076.4(GNS):c.1658A>G (p.Ter553Trp)	GNS	Single nucleotide variant (stop lost)	Mucopolysaccharidosis, MPS-III-D	GUncertain significance
Select item 1114052	NM_002076.4(GNS):c.1656G>A (p.Leu552=)	GNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 1078693	NM_002076.4(GNS):c.1654C>T (p.Leu552=)	GNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 1716869	NM_002076.4(GNS):c.1652T>C (p.Leu551Pro)	GNS (L551P)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-D	GUncertain significance
Select item 310205	NM_002076.4(GNS):c.1650T>C (p.His550=)	GNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-D +1 more	GBenign
Select item 1199374	NM_002076.4(GNS):c.1634G>A (p.Arg545Gln)	GNS (R545Q)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-D	GUncertain significance
Select item 2050944	NM_002076.4(GNS):c.1633C>T (p.Arg545Ter)	GNS (R545*)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-III-D	GUncertain significance
Select item 1104677	NM_002076.4(GNS):c.1629G>A (p.Arg543=)	GNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 1498213	NM_002076.4(GNS):c.1627A>G (p.Arg543Gly)	GNS (R543G)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-D	GUncertain significance
Select item 2124573	NM_002076.4(GNS):c.1626C>T (p.Val542=)	GNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 1400897	NM_002076.4(GNS):c.1623T>C (p.Ser541=)	GNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 2199703	NM_002076.4(GNS):c.1621A>G (p.Ser541Gly)	GNS (S541G)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-D	GUncertain significance
Select item 1002543	NM_002076.4(GNS):c.1618G>A (p.Gly540Ser)	GNS (G540S)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-D	GUncertain significance
Select item 753926	NM_002076.4(GNS):c.1617C>T (p.Arg539=)	GNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 881007	NM_002076.4(GNS):c.1616G>A (p.Arg539His)	GNS (R539H)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-D	GUncertain significance
Select item 2253927	NM_002076.4(GNS):c.1610G>A (p.Ser537Asn)	GNS (S537N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2201634	NM_002076.4(GNS):c.1609A>G (p.Ser537Gly)	GNS (S537G)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-D +1 more	GUncertain significance
Select item 1489406	NM_002076.4(GNS):c.1609A>C (p.Ser537Arg)	GNS (S537R)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-D	GUncertain significance
Select item 1429576	NM_002076.4(GNS):c.1603A>G (p.Met535Val)	GNS (M535V)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-D	GConflicting classifications of pathogenicity
Select item 2102404	NM_002076.4(GNS):c.1600C>T (p.Leu534Phe)	GNS (L534F)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-D	GUncertain significance
Select item 258550	NM_002076.4(GNS):c.1598G>A (p.Arg533His)	GNS (R533H)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-D +2 more	GBenign/Likely benign
Select item 1522387	NM_002076.4(GNS):c.1597C>T (p.Arg533Cys)	GNS (R533C)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-D	GUncertain significance
Select item 2120866	NM_002076.4(GNS):c.1596C>T (p.Pro532=)	GNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 1965602	NM_002076.4(GNS):c.1594C>T (p.Pro532Ser)	GNS (P532S)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-D	GUncertain significance
Select item 598985	NM_002076.4(GNS):c.1594C>G (p.Pro532Ala)	GNS (P532A)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-D +22 more	GConflicting classifications of pathogenicity
Select item 1957862	NM_002076.4(GNS):c.1585A>G (p.Arg529Gly)	GNS (R529G)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-D	GUncertain significance
Select item 2153584	NM_002076.4(GNS):c.1584C>T (p.Tyr528=)	GNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 1353851	NM_002076.4(GNS):c.1583A>G (p.Tyr528Cys)	GNS (Y528C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1024560	NM_002076.4(GNS):c.1581-1G>A	GNS	Single nucleotide variant (splice acceptor variant)	Mucopolysaccharidosis, MPS-III-D	GUncertain significance
Select item 2501131	NM_002076.4(GNS):c.1581-2A>G	GNS	Single nucleotide variant (splice acceptor variant)	not specified	GUncertain significance
Select item 2758684	NM_002076.4(GNS):c.1581-5C>G	GNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 2758694	NM_002076.4(GNS):c.1581-14T>C	GNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 2808150	NM_002076.4(GNS):c.1581-15G>A	GNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 2173222	NM_002076.4(GNS):c.1581-20A>G	GNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-D	GLikely benign
Select item 1706672	NM_002076.4(GNS):c.1581-84C>G	GNS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1263615	NM_002076.4(GNS):c.1581-209C>T	GNS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282823	NM_002076.4(GNS):c.1580+213C>T	GNS	Single nucleotide variant (intron variant)	not provided	GBenign

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