ClinVar for Gene (Select 81792) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2685152	GRCh37/hg19 5p13.3-13.2(chr5:33761025-33891010)x1	ADAMTS12	Copy number loss	not provided	GUncertain significance
Select item 2685151	GRCh37/hg19 5p13.3(chr5:33567647-33636594)x1	ADAMTS12	Copy number loss	not provided	GUncertain significance
Select item 2685139	GRCh37/hg19 5p15.33-13.2(chr5:113577-35613146)x1	ADAMTS12, ADAMTS16 +89 more	Copy number loss	not provided	GPathogenic
Select item 2684412	GRCh37/hg19 5p13.3-13.2(chr5:33303213-34037349)x3	ADAMTS12, AMACR +4 more	Copy number gain	not provided	GUncertain significance
Select item 2683745	GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3	AGXT2, LOC121725200 +385 more	Copy number gain	See cases	GLikely pathogenic
Select item 2655389	NM_030955.4(ADAMTS12):c.1014T>C (p.His338=)	ADAMTS12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655388	NM_030955.4(ADAMTS12):c.1017C>T (p.His339=)	ADAMTS12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655387	NM_030955.4(ADAMTS12):c.3321C>T (p.Ser1107=)	ADAMTS12, LOC126807349	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2613889	NM_030955.4(ADAMTS12):c.1405G>A (p.Gly469Arg)	ADAMTS12 (G469R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608641	NM_030955.4(ADAMTS12):c.3584C>T (p.Pro1195Leu)	ADAMTS12, LOC126807349 (P1110L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605639	NM_030955.4(ADAMTS12):c.3016A>G (p.Asn1006Asp)	ADAMTS12, LOC126807349 (N1006D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603650	NM_030955.4(ADAMTS12):c.3193A>C (p.Lys1065Gln)	ADAMTS12, LOC126807349 (K980Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601960	NM_030955.4(ADAMTS12):c.751C>G (p.Leu251Val)	ADAMTS12 (L251V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2593225	NM_030955.4(ADAMTS12):c.3497C>A (p.Pro1166His)	ADAMTS12, LOC126807349 (P1081H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2559900	NM_030955.4(ADAMTS12):c.4138T>G (p.Cys1380Gly)	ADAMTS12 (C1380G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2559748	NM_030955.4(ADAMTS12):c.3406A>G (p.Ile1136Val)	ADAMTS12, LOC126807349 (I1051V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2543731	NM_030955.4(ADAMTS12):c.2752G>A (p.Glu918Lys)	ADAMTS12 (E833K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541374	NM_030955.4(ADAMTS12):c.1259C>T (p.Ser420Phe)	ADAMTS12 (S420F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540738	NM_030955.4(ADAMTS12):c.3022G>A (p.Gly1008Ser)	ADAMTS12, LOC126807349 (G923S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537012	NM_030955.4(ADAMTS12):c.2252A>G (p.Tyr751Cys)	ADAMTS12 (Y751C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528450	NM_030955.4(ADAMTS12):c.3107C>T (p.Thr1036Ile)	ADAMTS12, LOC126807349 (T1036I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2527772	NM_030955.4(ADAMTS12):c.4445T>A (p.Leu1482Gln)	ADAMTS12 (L1397Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510760	NM_030955.4(ADAMTS12):c.89C>A (p.Pro30His)	ADAMTS12 (P30H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494003	NM_030955.4(ADAMTS12):c.2168C>T (p.Pro723Leu)	ADAMTS12 (P638L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488927	NM_030955.4(ADAMTS12):c.216C>G (p.His72Gln)	ADAMTS12 (H72Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483546	NM_030955.4(ADAMTS12):c.4183C>T (p.Arg1395Trp)	ADAMTS12 (R1395W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481263	NM_030955.4(ADAMTS12):c.513T>A (p.His171Gln)	ADAMTS12 (H171Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479856	NM_030955.4(ADAMTS12):c.757G>T (p.Val253Leu)	ADAMTS12 (V253L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479146	NM_030955.4(ADAMTS12):c.2884G>T (p.Gly962Cys)	ADAMTS12, LOC126807349 (G962C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477737	NM_030955.4(ADAMTS12):c.3860A>C (p.Glu1287Ala)	ADAMTS12, LOC126807349 (E1202A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470343	NM_030955.4(ADAMTS12):c.4237C>T (p.Pro1413Ser)	ADAMTS12 (P1328S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2468367	NM_030955.4(ADAMTS12):c.818C>T (p.Thr273Ile)	ADAMTS12 (T273I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2454464	NM_030955.4(ADAMTS12):c.430A>T (p.Thr144Ser)	ADAMTS12 (T144S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2405173	NM_030955.4(ADAMTS12):c.2741T>C (p.Met914Thr)	ADAMTS12 (M829T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404359	NM_030955.4(ADAMTS12):c.137T>G (p.Ile46Ser)	ADAMTS12 (I46S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402727	NM_030955.4(ADAMTS12):c.3571A>G (p.Ser1191Gly)	ADAMTS12, LOC126807349 (S1106G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402541	NM_030955.4(ADAMTS12):c.1507G>A (p.Val503Met)	ADAMTS12 (V503M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399900	NM_030955.4(ADAMTS12):c.1337G>A (p.Arg446Gln)	ADAMTS12 (R446Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394102	NM_030955.4(ADAMTS12):c.904G>A (p.Glu302Lys)	ADAMTS12 (E302K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393499	NM_030955.4(ADAMTS12):c.1120C>T (p.Arg374Cys)	ADAMTS12 (R374C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2390356	NM_030955.4(ADAMTS12):c.101C>T (p.Pro34Leu)	ADAMTS12 (P34L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2387116	NM_030955.4(ADAMTS12):c.2566C>T (p.Arg856Cys)	ADAMTS12 (R856C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385709	NM_030955.4(ADAMTS12):c.3064G>A (p.Val1022Ile)	ADAMTS12, LOC126807349 (V1022I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2384516	NM_030955.4(ADAMTS12):c.2932C>A (p.Pro978Thr)	ADAMTS12, LOC126807349 (P978T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382030	NM_030955.4(ADAMTS12):c.3649A>G (p.Met1217Val)	ADAMTS12, LOC126807349 (M1217V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381451	NM_030955.4(ADAMTS12):c.1885C>A (p.Pro629Thr)	ADAMTS12 (P629T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2372923	NM_030955.4(ADAMTS12):c.2938G>T (p.Asp980Tyr)	ADAMTS12, LOC126807349 (D980Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370652	NM_030955.4(ADAMTS12):c.742G>A (p.Val248Met)	ADAMTS12 (V248M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367110	NM_030955.4(ADAMTS12):c.1913G>A (p.Arg638Gln)	ADAMTS12 (R638Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2357721	NM_030955.4(ADAMTS12):c.1732G>A (p.Gly578Arg)	ADAMTS12 (G578R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354114	NM_030955.4(ADAMTS12):c.3730C>G (p.Pro1244Ala)	ADAMTS12, LOC126807349 (P1159A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353870	NM_030955.4(ADAMTS12):c.4046C>T (p.Ala1349Val)	ADAMTS12 (A1264V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2352796	NM_030955.4(ADAMTS12):c.1523G>A (p.Arg508His)	ADAMTS12 (R508H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2336036	NM_030955.4(ADAMTS12):c.4747A>G (p.Arg1583Gly)	ADAMTS12 (R1583G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331774	NM_030955.4(ADAMTS12):c.4553C>G (p.Pro1518Arg)	ADAMTS12 (P1518R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330676	NM_030955.4(ADAMTS12):c.715C>T (p.Arg239Trp)	ADAMTS12 (R239W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329459	NM_030955.4(ADAMTS12):c.407C>G (p.Ala136Gly)	ADAMTS12 (A136G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2311879	NM_030955.4(ADAMTS12):c.2000T>C (p.Val667Ala)	ADAMTS12 (V667A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2306537	NM_030955.4(ADAMTS12):c.1431G>C (p.Gln477His)	ADAMTS12 (Q477H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306490	NM_030955.4(ADAMTS12):c.3023G>A (p.Gly1008Asp)	ADAMTS12, LOC126807349 (G923D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304178	NM_030955.4(ADAMTS12):c.3733G>A (p.Ala1245Thr)	ADAMTS12, LOC126807349 (A1160T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298025	NM_030955.4(ADAMTS12):c.1012C>A (p.His338Asn)	ADAMTS12 (H338N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296953	NM_030955.4(ADAMTS12):c.3073C>T (p.Pro1025Ser)	ADAMTS12, LOC126807349 (P1025S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286709	NM_030955.4(ADAMTS12):c.1093C>A (p.His365Asn)	ADAMTS12 (H365N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284574	NM_030955.4(ADAMTS12):c.890G>A (p.Arg297Gln)	ADAMTS12 (R297Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281891	NM_030955.4(ADAMTS12):c.2826C>G (p.Ile942Met)	ADAMTS12 (I857M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278233	NM_030955.4(ADAMTS12):c.1186C>T (p.His396Tyr)	ADAMTS12 (H396Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271738	NM_030955.4(ADAMTS12):c.2797A>C (p.Lys933Gln)	ADAMTS12 (K933Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270638	NM_030955.4(ADAMTS12):c.3686C>A (p.Ser1229Tyr)	ADAMTS12, LOC126807349 (S1229Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258028	NM_030955.4(ADAMTS12):c.1760G>A (p.Arg587His)	ADAMTS12 (R587H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257180	NM_030955.4(ADAMTS12):c.4015G>C (p.Glu1339Gln)	ADAMTS12 (E1254Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256340	NM_030955.4(ADAMTS12):c.3655G>A (p.Gly1219Arg)	ADAMTS12, LOC126807349 (G1134R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247082	NM_030955.4(ADAMTS12):c.2363C>T (p.Pro788Leu)	ADAMTS12 (P703L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246703	NM_030955.4(ADAMTS12):c.3394T>C (p.Ser1132Pro)	ADAMTS12, LOC126807349 (S1047P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242568	NM_030955.4(ADAMTS12):c.4409A>C (p.His1470Pro)	ADAMTS12 (H1385P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239817	NM_030955.4(ADAMTS12):c.1415A>G (p.Tyr472Cys)	ADAMTS12 (Y472C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234646	NM_030955.4(ADAMTS12):c.3806T>A (p.Leu1269Gln)	ADAMTS12, LOC126807349 (L1184Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219002	NM_030955.4(ADAMTS12):c.2963G>A (p.Arg988Gln)	ADAMTS12, LOC126807349 (R988Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218672	NM_030955.4(ADAMTS12):c.3133A>G (p.Thr1045Ala)	ADAMTS12, LOC126807349 (T960A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210027	NM_030955.4(ADAMTS12):c.3481G>A (p.Glu1161Lys)	ADAMTS12, LOC126807349 (E1076K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208351	NM_030955.4(ADAMTS12):c.1132A>G (p.Ile378Val)	ADAMTS12 (I378V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1809305	GRCh37/hg19 5p13.3-13.2(chr5:33527851-33871914)x1	ADAMTS12	Copy number loss	not provided	GUncertain significance
Select item 1808669	GRCh37/hg19 5p13.3-11(chr5:29348753-46389339)x3	ADAMTS12, AGXT2 +71 more	Copy number gain	not provided	GPathogenic
Select item 1527153	GRCh37/hg19 5p14.1-11(chr5:26382110-46389339)	ADAMTS12, AGXT2 +72 more	Copy number gain	not specified	GPathogenic
Select item 1012370	GRCh37/hg19 5p13.3-12(chr5:29081195-45294031)x3	ADAMTS12, AGXT2 +71 more	Copy number gain	See cases	GPathogenic
Select item 979507	GRCh37/hg19 5p13.3-13.2(chr5:33501565-34167822)x3	ADAMTS12, SLC45A2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 979505	GRCh37/hg19 5p13.3(chr5:33255507-33768313)x3	TARS1, ADAMTS12	Copy number gain	not provided	GLikely benign
Select item 814678	GRCh37/hg19 5p13.3-13.2(chr5:29720391-34124081)x1	TARS1, RXFP3 +13 more	Copy number loss	not provided	GUncertain significance
Select item 791258	NM_030955.4(ADAMTS12):c.328C>G (p.Gln110Glu)	ADAMTS12 (Q110E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 790020	NM_030955.4(ADAMTS12):c.789G>A (p.Gly263=)	ADAMTS12	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 790019	NM_030955.4(ADAMTS12):c.3035A>G (p.Asn1012Ser)	ADAMTS12, LOC126807349 (N1012S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 790018	NM_030955.4(ADAMTS12):c.3602C>T (p.Thr1201Ile)	ADAMTS12, LOC126807349 (T1116I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 786052	NM_030955.4(ADAMTS12):c.2567G>A (p.Arg856His)	ADAMTS12 (R771H +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 785119	NM_030955.4(ADAMTS12):c.228G>A (p.Thr76=)	ADAMTS12	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 780955	NM_030955.4(ADAMTS12):c.4179C>G (p.Asp1393Glu)	ADAMTS12 (D1393E +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 716341	NM_030955.4(ADAMTS12):c.1146G>A (p.Ser382=)	ADAMTS12	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 712571	NM_030955.4(ADAMTS12):c.4550A>G (p.Lys1517Arg)	ADAMTS12 (K1517R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563053	GRCh37/hg19 5p14.1-12(chr5:27227243-45685844)x3	C1QTNF3, C5orf22 +71 more	Copy number gain	not provided	GPathogenic
Select item 563027	GRCh37/hg19 5p15.33-13.2(chr5:113576-35739404)x3	ADAMTS12, ADAMTS16 +90 more	Copy number gain	not provided	GPathogenic

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