4313[geneid] - - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1184380	Single allele	SLC38A7, SLC6A2 +519 more	Duplication	not provided	GPathogenic
Select item 155685	GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3	LINC02168, LINC02169 +675 more	Copy number gain	See cases	GPathogenic
Select item 59490	GRCh38/hg38 16q12.1-12.2(chr16:50784329-55566715)x1	AKTIP, CAPNS2 +104 more	Copy number loss	See cases	GPathogenic
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059466, LOC130059467 +1738 more	Copy number gain	See cases	GPathogenic
Select item 1696636	Single allele	IRX5, IRX6 +189 more	Deletion	not provided	GPathogenic
Select item 997022	NC_000016.10:g.54801236_55533834dup	CRNDE, IRX5 +17 more	Duplication	Autosomal dominant cone dystrophy with early tritanopia	GPathogenic
Select item 997021	NC_000016.10:g.54893325_55501091dup	CRNDE, IRX5 +15 more	Duplication	Autosomal dominant cone dystrophy with early tritanopia	GPathogenic
Select item 144256	GRCh38/hg38 16q12.2-21(chr16:55457477-63841622)x1	ADGRG1, ADGRG3 +244 more	Copy number loss	See cases	GPathogenic
Select item 429032	NM_004530.5(MMP2):c.-1586C>T	MMP2	Single nucleotide variant	Lip and oral cavity carcinoma	Gassociation
Select item 1280738	NM_004530.3(MMP2):c.-448G>T	MMP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 319740	NM_004530.6(MMP2):c.-201CGG[8]	MMP2	Microsatellite (5 prime UTR variant +1 more)	Multicentric Osteolysis-Nodulosis-Arthropathy (MONA) Spectrum Disorders	GUncertain significance
Select item 319741	NM_004530.6(MMP2):c.-201C>G	MMP2	Single nucleotide variant (5 prime UTR variant +1 more)	Multicentric osteolysis nodulosis arthropathy spectrum	GUncertain significance
Select item 886975	NM_004530.6(MMP2):c.-147T>A	MMP2	Single nucleotide variant (5 prime UTR variant +1 more)	Multicentric osteolysis nodulosis arthropathy spectrum	GUncertain significance
Select item 319742	NM_004530.6(MMP2):c.-114G>A	MMP2	Single nucleotide variant (5 prime UTR variant +1 more)	Multicentric osteolysis nodulosis arthropathy spectrum	GUncertain significance
Select item 319743	NM_004530.6(MMP2):c.-61G>C	MMP2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 319744	NM_004530.6(MMP2):c.-7C>A	MMP2	Single nucleotide variant (5 prime UTR variant +1 more)	Multicentric osteolysis nodulosis arthropathy spectrum	GUncertain significance
Select item 319745	NM_004530.6(MMP2):c.-2C>A	MMP2	Single nucleotide variant (5 prime UTR variant +1 more)	Multicentric osteolysis nodulosis arthropathy spectrum	GUncertain significance
Select item 1967032	NM_004530.6(MMP2):c.1_2del (p.Met1fs)	MMP2 (M1fs)	Deletion (frameshift variant +2 more)	not provided	GUncertain significance
Select item 1952742	NM_004530.6(MMP2):c.16G>A (p.Ala6Thr)	MMP2 (A6T)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 1411122	NM_004530.6(MMP2):c.20G>A (p.Arg7Gln)	MMP2 (R7Q)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 2168908	NM_004530.6(MMP2):c.23G>A (p.Gly8Asp)	MMP2 (G8D)	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 746207	NM_004530.6(MMP2):c.30C>T (p.Leu10=)	MMP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1966055	NM_004530.6(MMP2):c.32C>T (p.Thr11Met)	MMP2 (T11M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1348855	NM_004530.6(MMP2):c.37C>T (p.Pro13Ser)	MMP2 (P13S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 888242	NM_004530.6(MMP2):c.38C>G (p.Pro13Arg)	MMP2 (P13R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2972770	NM_004530.6(MMP2):c.43A>C (p.Arg15=)	MMP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 319746	NM_004530.6(MMP2):c.51C>T (p.Leu17=)	MMP2	Single nucleotide variant (synonymous variant +1 more)	MMP2-related condition +2 more	GBenign/Likely benign
Select item 1962045	NM_004530.6(MMP2):c.66C>T (p.Cys22=)	MMP2	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 1539395	NM_004530.6(MMP2):c.93G>A (p.Pro31=)	MMP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 729361	NM_004530.6(MMP2):c.96G>T (p.Ser32=)	MMP2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 193285	NM_004530.6(MMP2):c.105C>T (p.Ile35=)	MMP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1910123	NM_004530.6(MMP2):c.113C>T (p.Pro38Leu)	MMP2 (P38L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 888243	NM_004530.6(MMP2):c.115G>A (p.Gly39Ser)	MMP2 (G39S)	Single nucleotide variant (missense variant +1 more)	Multicentric osteolysis nodulosis arthropathy spectrum	GUncertain significance
Select item 2055669	NM_004530.6(MMP2):c.124G>T (p.Ala42Ser)	MMP2 (A42S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1509324	NM_004530.6(MMP2):c.127C>T (p.Pro43Ser)	MMP2 (P43S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 885134	NM_004530.6(MMP2):c.153+12C>T	MMP2	Single nucleotide variant (intron variant)	Multicentric osteolysis nodulosis arthropathy spectrum	GUncertain significance
Select item 1273576	NM_004530.6(MMP2):c.153+79C>T	MMP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234922	NM_004530.6(MMP2):c.154-1621T>C	MMP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 859272	NM_004530.6(MMP2):c.154-1492_320del	MMP2	Deletion (splice acceptor variant +1 more)	not provided	GLikely pathogenic
Select item 1257720	NM_004530.6(MMP2):c.154-1406A>C	MMP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279144	NM_004530.6(MMP2):c.154-1228G>A	MMP2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1237685	NM_004530.6(MMP2):c.154-1200T>C	MMP2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1263865	NM_004530.6(MMP2):c.154-1126A>T	MMP2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1279192	NM_004530.6(MMP2):c.154-348G>A	MMP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223276	NM_004530.6(MMP2):c.154-113T>A	MMP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252273	NM_004530.6(MMP2):c.154-54G>A	MMP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2801096	NM_004530.6(MMP2):c.154-20G>C	MMP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1648271	NM_004530.6(MMP2):c.154-11A>G	MMP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1911849	NM_004530.6(MMP2):c.154-7C>A	MMP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2089123	NM_004530.6(MMP2):c.170T>C (p.Phe57Ser)	MMP2 (F7S +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1382342	NM_004530.6(MMP2):c.181C>T (p.Pro61Ser)	MMP2 (P61S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2250703	NM_004530.6(MMP2):c.188A>G (p.Glu63Gly)	MMP2 (E13G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1383558	NM_004530.6(MMP2):c.205G>T (p.Val69Leu)	MMP2 (V69L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2211825	NM_004530.6(MMP2):c.224A>T (p.Lys75Met)	MMP2 (K25M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1015572	NM_004530.6(MMP2):c.233A>G (p.Gln78Arg)	MMP2 (Q28R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2833860	NM_004530.6(MMP2):c.250C>T (p.Pro84Ser)	MMP2 (P84S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 195227	NM_004530.6(MMP2):c.265del (p.Asp90fs)	MMP2 (D90fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 787445	NM_004530.6(MMP2):c.282C>T (p.Ile94=)	MMP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2601730	NM_004530.6(MMP2):c.283G>A (p.Glu95Lys)	MMP2 (E19K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1341994	NM_004530.6(MMP2):c.301C>T (p.Arg101Cys)	MMP2 (R101C +2 more)	Single nucleotide variant (missense variant)	Multicentric osteolysis nodulosis arthropathy spectrum	GPathogenic
Select item 17108	NM_004530.6(MMP2):c.302G>A (p.Arg101His)	MMP2 (R101H +2 more)	Single nucleotide variant (missense variant)	Multicentric osteolysis nodulosis arthropathy spectrum	GPathogenic
Select item 1332856	NM_004530.6(MMP2):c.306C>A (p.Cys102Ter)	MMP2 (C102* +2 more)	Single nucleotide variant (nonsense)	Multicentric osteolysis nodulosis arthropathy spectrum	GLikely pathogenic
Select item 885135	NM_004530.6(MMP2):c.306C>T (p.Cys102=)	MMP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1058709	NM_004530.6(MMP2):c.332A>G (p.Asn111Ser)	MMP2 (N111S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 885136	NM_004530.6(MMP2):c.344G>T (p.Arg115Leu)	MMP2 (R65L +2 more)	Single nucleotide variant (missense variant)	Multicentric osteolysis nodulosis arthropathy spectrum	GUncertain significance
Select item 1626914	NM_004530.6(MMP2):c.345C>G (p.Arg115=)	MMP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1475230	NM_004530.6(MMP2):c.361A>G (p.Lys121Glu)	MMP2 (K45E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 690375	NM_004530.6(MMP2):c.377A>G (p.Tyr126Cys)	MMP2 (Y126C +2 more)	Single nucleotide variant (missense variant)	Multicentric osteolysis nodulosis arthropathy spectrum	GUncertain significance
Select item 1032226	NM_004530.6(MMP2):c.380+6G>A	MMP2	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 2956597	NM_004530.6(MMP2):c.380+9G>T	MMP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 497263	NM_004530.6(MMP2):c.380+10C>T	MMP2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1989507	NM_004530.6(MMP2):c.380+11A>G	MMP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970509	NM_004530.6(MMP2):c.380+15C>A	MMP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1266020	NM_004530.6(MMP2):c.380+115A>G	MMP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226528	NM_004530.6(MMP2):c.380+185G>A	MMP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1672460	NM_004530.6(MMP2):c.381-12T>C	MMP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1988896	NM_004530.6(MMP2):c.381-9C>T	MMP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2330446	NM_004530.6(MMP2):c.427G>T (p.Ala143Ser)	MMP2 (A143S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1501255	NM_004530.6(MMP2):c.436C>T (p.Arg146Cys)	MMP2 (R146C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1374505	NM_004530.6(MMP2):c.437G>A (p.Arg146His)	MMP2 (R70H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2020056	NM_004530.6(MMP2):c.442T>C (p.Phe148Leu)	MMP2 (F98L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2594705	NM_004530.6(MMP2):c.457G>A (p.Asp153Asn)	MMP2 (D153N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2014632	NM_004530.6(MMP2):c.458A>G (p.Asp153Gly)	MMP2 (D103G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2176148	NM_004530.6(MMP2):c.473G>A (p.Arg158Gln)	MMP2 (R108Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2418434	NM_004530.6(MMP2):c.474G>T (p.Arg158=)	MMP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 885137	NM_004530.6(MMP2):c.474G>A (p.Arg158=)	MMP2	Single nucleotide variant (synonymous variant)	Multicentric osteolysis nodulosis arthropathy spectrum	GUncertain significance
Select item 498527	NM_004530.6(MMP2):c.496G>A (p.Glu166Lys)	MMP2 (E166K +2 more)	Single nucleotide variant (missense variant)	Multicentric osteolysis nodulosis arthropathy spectrum +3 more	GBenign/Likely benign
Select item 2077080	NM_004530.6(MMP2):c.499G>A (p.Ala167Thr)	MMP2 (A117T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3046507	NM_004530.6(MMP2):c.501A>G (p.Ala167=)	MMP2	Single nucleotide variant (synonymous variant)	MMP2-related condition	GLikely benign
Select item 2839614	NM_004530.6(MMP2):c.513C>T (p.Ile171=)	MMP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1963414	NM_004530.6(MMP2):c.513C>A (p.Ile171=)	MMP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1559950	NM_004530.6(MMP2):c.522C>T (p.Gly174=)	MMP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2511946	NM_004530.6(MMP2):c.524G>T (p.Arg175Leu)	MMP2 (R99L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1398203	NM_004530.6(MMP2):c.524G>A (p.Arg175His)	MMP2 (R175H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1299550	NM_004530.6(MMP2):c.529G>A (p.Glu177Lys)	MMP2 (E101K +2 more)	Single nucleotide variant (missense variant)	Multicentric osteolysis nodulosis arthropathy spectrum	GLikely pathogenic
Select item 1615000	NM_004530.6(MMP2):c.529+17G>C	MMP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1280248	NM_004530.6(MMP2):c.529+182C>T	MMP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254989	NM_004530.6(MMP2):c.530-334A>G	MMP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 724611	NM_004530.6(MMP2):c.537C>T (p.Gly179=)	MMP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 191067	NM_004530.6(MMP2):c.538G>A (p.Asp180Asn)	MMP2 (D180N +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity

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