14899[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic
Select item 147477	GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1	HERC4, HK1 +514 more	Copy number loss	See cases	GPathogenic
Select item 146115	GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3	LOC130004125, LOC130004126 +580 more	Copy number gain	See cases	GPathogenic
Select item 153538	GRCh38/hg38 10q22.1(chr10:70596378-71288228)x3	ADAMTS14, LINC02622 +26 more	Copy number gain	See cases	GUncertain significance
Select item 3147319	NM_080722.4(ADAMTS14):c.55T>A (p.Cys19Ser)	ADAMTS14 (C19S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147321	NM_080722.4(ADAMTS14):c.56G>C (p.Cys19Ser)	ADAMTS14 (C19S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147324	NM_080722.4(ADAMTS14):c.61G>A (p.Ala21Thr)	ADAMTS14 (A21T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401533	NM_080722.4(ADAMTS14):c.64G>T (p.Ala22Ser)	ADAMTS14 (A22S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553748	NM_080722.4(ADAMTS14):c.131G>A (p.Cys44Tyr)	ADAMTS14 (C44Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223310	NM_080722.4(ADAMTS14):c.145C>T (p.Arg49Trp)	ADAMTS14 (R49W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351518	NM_080722.4(ADAMTS14):c.151C>T (p.Arg51Cys)	ADAMTS14 (R51C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147206	NM_080722.4(ADAMTS14):c.250C>T (p.Arg84Trp)	ADAMTS14 (R84W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358564	NM_080722.4(ADAMTS14):c.278G>A (p.Gly93Glu)	ADAMTS14 (G93E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280788	NM_080722.4(ADAMTS14):c.300G>T (p.Arg100Ser)	ADAMTS14 (R100S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470930	NM_080722.4(ADAMTS14):c.358C>T (p.Arg120Cys)	ADAMTS14 (R120C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247084	NM_080722.4(ADAMTS14):c.365G>A (p.Arg122Gln)	ADAMTS14 (R122Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475023	NM_080722.4(ADAMTS14):c.392G>T (p.Gly131Val)	ADAMTS14 (G131V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514864	NM_080722.4(ADAMTS14):c.421C>T (p.Arg141Trp)	ADAMTS14 (R141W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147317	NM_080722.4(ADAMTS14):c.434G>A (p.Arg145Gln)	ADAMTS14 (R145Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640556	NM_080722.4(ADAMTS14):c.445C>T (p.Arg149Trp)	ADAMTS14 (R149W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2510494	NM_080722.4(ADAMTS14):c.446G>A (p.Arg149Gln)	ADAMTS14 (R149Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2293635	NM_080722.4(ADAMTS14):c.481A>G (p.Met161Val)	ADAMTS14 (M161V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266669	NM_080722.4(ADAMTS14):c.484C>T (p.Pro162Ser)	ADAMTS14 (P162S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786164	NM_080722.4(ADAMTS14):c.516C>T (p.Asp172=)	ADAMTS14	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 747044	NM_080722.4(ADAMTS14):c.524C>T (p.Ala175Val)	ADAMTS14 (A175V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2455734	NM_080722.4(ADAMTS14):c.626G>A (p.Arg209Gln)	ADAMTS14 (R209Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237186	NM_080722.4(ADAMTS14):c.642G>T (p.Gln214His)	ADAMTS14 (Q214H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788428	NM_080722.4(ADAMTS14):c.735C>T (p.Gly245=)	ADAMTS14	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2525902	NM_080722.4(ADAMTS14):c.736G>T (p.Asp246Tyr)	ADAMTS14 (D246Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519391	NM_080722.4(ADAMTS14):c.746G>A (p.Arg249Gln)	ADAMTS14 (R249Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400510	NM_080722.4(ADAMTS14):c.770G>A (p.Gly257Asp)	ADAMTS14 (G257D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 747045	NM_080722.4(ADAMTS14):c.783C>T (p.Ile261=)	ADAMTS14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3147338	NM_080722.4(ADAMTS14):c.859C>T (p.Leu287Phe)	ADAMTS14 (L287F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709700	NM_080722.4(ADAMTS14):c.870+3G>A	ADAMTS14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2529250	NM_080722.4(ADAMTS14):c.876T>G (p.Asp292Glu)	ADAMTS14 (D292E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311060	NM_080722.4(ADAMTS14):c.905T>C (p.Val302Ala)	ADAMTS14 (V302A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2456184	NM_080722.4(ADAMTS14):c.929G>A (p.Arg310His)	ADAMTS14 (R310H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338360	NM_080722.4(ADAMTS14):c.970G>A (p.Glu324Lys)	ADAMTS14 (E324K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311491	NM_080722.4(ADAMTS14):c.1009C>T (p.Arg337Cys)	ADAMTS14 (R337C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147133	NM_080722.4(ADAMTS14):c.1016C>T (p.Ala339Val)	ADAMTS14 (A339V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601130	NM_080722.4(ADAMTS14):c.1081C>T (p.Arg361Trp)	ADAMTS14 (R361W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640557	NM_080722.4(ADAMTS14):c.1104G>A (p.Gly368=)	ADAMTS14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2465109	NM_080722.4(ADAMTS14):c.1111C>T (p.Pro371Ser)	ADAMTS14 (P371S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266739	NM_080722.4(ADAMTS14):c.1180T>A (p.Phe394Ile)	ADAMTS14 (F397I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527829	NM_080722.4(ADAMTS14):c.1189G>A (p.Ala397Thr)	ADAMTS14 (A397T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480980	NM_080722.4(ADAMTS14):c.1210C>T (p.Leu404Phe)	ADAMTS14 (L407F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226516	NM_080722.4(ADAMTS14):c.1213G>A (p.Gly405Ser)	ADAMTS14 (G405S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274932	NM_080722.4(ADAMTS14):c.1277C>A (p.Ala426Glu)	ADAMTS14 (A429E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640558	NM_080722.4(ADAMTS14):c.1290G>A (p.Gln430=)	ADAMTS14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3147147	NM_080722.4(ADAMTS14):c.1316C>T (p.Ser439Phe)	ADAMTS14 (S439F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266747	NM_080722.4(ADAMTS14):c.1318C>A (p.Arg440Ser)	ADAMTS14 (R443S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 974699	NM_080722.4(ADAMTS14):c.1318C>T (p.Arg440Cys)	ADAMTS14 (R440C +1 more)	Single nucleotide variant (missense variant)	Fraser syndrome 3	GUncertain significance
Select item 3147149	NM_080722.4(ADAMTS14):c.1343G>A (p.Arg448His)	ADAMTS14 (R448H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147152	NM_080722.4(ADAMTS14):c.1364G>A (p.Cys455Tyr)	ADAMTS14 (C455Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475259	NM_080722.4(ADAMTS14):c.1442A>C (p.Gln481Pro)	ADAMTS14 (Q481P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266699	NM_080722.4(ADAMTS14):c.1448G>A (p.Arg483His)	ADAMTS14 (R483H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147156	NM_080722.4(ADAMTS14):c.1475C>A (p.Thr492Asn)	ADAMTS14 (T492N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363921	NM_080722.4(ADAMTS14):c.1478G>T (p.Cys493Phe)	ADAMTS14 (C493F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147158	NM_080722.4(ADAMTS14):c.1529C>A (p.Pro510His)	ADAMTS14 (P513H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247046	NM_080722.4(ADAMTS14):c.1538C>T (p.Pro513Leu)	ADAMTS14 (P513L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348916	NM_080722.4(ADAMTS14):c.1564C>A (p.Pro522Thr)	ADAMTS14 (P522T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352909	NM_080722.4(ADAMTS14):c.1594G>A (p.Gly532Ser)	ADAMTS14 (G532S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2491661	NM_080722.4(ADAMTS14):c.1619G>A (p.Cys540Tyr)	ADAMTS14 (C540Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147161	NM_080722.4(ADAMTS14):c.1648G>A (p.Gly550Ser)	ADAMTS14 (G550S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147163	NM_080722.4(ADAMTS14):c.1697G>A (p.Arg566Gln)	ADAMTS14 (R566Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147164	NM_080722.4(ADAMTS14):c.1789G>A (p.Glu597Lys)	ADAMTS14 (E597K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147165	NM_080722.4(ADAMTS14):c.1810G>A (p.Glu604Lys)	ADAMTS14 (E607K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266728	NM_080722.4(ADAMTS14):c.1813G>A (p.Glu605Lys)	ADAMTS14 (E605K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560443	NM_080722.4(ADAMTS14):c.1841G>A (p.Arg614Gln)	ADAMTS14 (R614Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297071	NM_080722.4(ADAMTS14):c.1876G>A (p.Val626Met)	ADAMTS14 (V626M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331051	NM_080722.4(ADAMTS14):c.1898G>A (p.Ser633Asn)	ADAMTS14 (S633N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543778	NM_080722.4(ADAMTS14):c.1912G>A (p.Glu638Lys)	ADAMTS14 (E638K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618610	NM_080722.4(ADAMTS14):c.1915C>A (p.Pro639Thr)	ADAMTS14 (P639T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266757	NM_080722.4(ADAMTS14):c.1921G>A (p.Asp641Asn)	ADAMTS14 (D641N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523645	NM_080722.4(ADAMTS14):c.1927G>A (p.Ala643Thr)	ADAMTS14 (A646T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3266766	NM_080722.4(ADAMTS14):c.1990G>A (p.Val664Met)	ADAMTS14 (V667M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401876	NM_080722.4(ADAMTS14):c.2009G>A (p.Arg670His)	ADAMTS14 (R670H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518559	NM_080722.4(ADAMTS14):c.2035G>A (p.Val679Ile)	ADAMTS14 (V679I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380560	NM_080722.4(ADAMTS14):c.2065G>T (p.Gly689Cys)	ADAMTS14 (G692C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605640	NM_080722.4(ADAMTS14):c.2077G>A (p.Glu693Lys)	ADAMTS14 (E693K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230923	NM_080722.4(ADAMTS14):c.2146G>A (p.Val716Met)	ADAMTS14 (V716M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469007	NM_080722.4(ADAMTS14):c.2153G>A (p.Gly718Glu)	ADAMTS14 (G721E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361663	NM_080722.4(ADAMTS14):c.2156C>T (p.Thr719Met)	ADAMTS14 (T719M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147172	NM_080722.4(ADAMTS14):c.2261T>C (p.Ile754Thr)	ADAMTS14 (I754T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215318	NM_080722.4(ADAMTS14):c.2273A>G (p.Asn758Ser)	ADAMTS14 (N758S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147175	NM_080722.4(ADAMTS14):c.2284G>C (p.Gly762Arg)	ADAMTS14 (G762R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147174	NM_080722.4(ADAMTS14):c.2284G>A (p.Gly762Ser)	ADAMTS14 (G765S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147176	NM_080722.4(ADAMTS14):c.2326C>T (p.Arg776Trp)	ADAMTS14 (R776W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219567	NM_080722.4(ADAMTS14):c.2405T>C (p.Leu802Pro)	ADAMTS14 (L802P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377124	NM_080722.4(ADAMTS14):c.2407C>T (p.Pro803Ser)	ADAMTS14 (P806S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221614	NM_080722.4(ADAMTS14):c.2435C>G (p.Pro812Arg)	ADAMTS14 (P815R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147183	NM_080722.4(ADAMTS14):c.2437C>G (p.Pro813Ala)	ADAMTS14 (P813A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611811	NM_080722.4(ADAMTS14):c.2437C>T (p.Pro813Ser)	ADAMTS14 (P813S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507549	NM_080722.4(ADAMTS14):c.2440A>G (p.Thr814Ala)	ADAMTS14 (T814A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2234224	NM_080722.4(ADAMTS14):c.2455C>T (p.Arg819Cys)	ADAMTS14 (R819C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147199	NM_080722.4(ADAMTS14):c.2456G>A (p.Arg819His)	ADAMTS14 (R822H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561273	NM_080722.4(ADAMTS14):c.2479G>A (p.Val827Ile)	ADAMTS14 (V830I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3266773	NM_080722.4(ADAMTS14):c.2554G>A (p.Ala852Thr)	ADAMTS14 (A855T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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