MUC17[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 470

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 59713	GRCh38/hg38 7q21.3-22.1(chr7:98288474-101259804)x3	ACHE, ACTL6B +300 more	Copy number gain	See cases	GPathogenic
Select item 146501	GRCh38/hg38 7q22.1(chr7:99195836-102258175)x1	ACHE, ACTL6B +310 more	Copy number loss	See cases	GPathogenic
Select item 149050	GRCh38/hg38 7q22.1(chr7:99932610-102473188)x3	ACHE, ACTL6B +283 more	Copy number gain	See cases	GUncertain significance
Select item 60281	GRCh38/hg38 7q22.1(chr7:100419914-102482826)x1	ACHE, ACTL6B +207 more	Copy number loss	See cases	GPathogenic
Select item 2388233	NM_001040105.2(MUC17):c.49T>A (p.Ser17Thr)	MUC17 (S17T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219748	NM_001040105.2(MUC17):c.62C>G (p.Pro21Arg)	MUC17 (P21R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219309	NM_001040105.2(MUC17):c.193G>A (p.Ala65Thr)	MUC17 (A65T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219329	NM_001040105.2(MUC17):c.215C>A (p.Thr72Lys)	MUC17 (T72K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219379	NM_001040105.2(MUC17):c.272T>C (p.Met91Thr)	MUC17 (M91T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263147	NM_001040105.2(MUC17):c.296C>T (p.Thr99Ile)	MUC17 (T99I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514755	NM_001040105.2(MUC17):c.307C>T (p.Pro103Ser)	MUC17 (P103S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2601386	NM_001040105.2(MUC17):c.317C>G (p.Ser106Cys)	MUC17 (S106C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219522	NM_001040105.2(MUC17):c.439G>A (p.Val147Met)	MUC17 (V147M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3296882	NM_001040105.2(MUC17):c.461A>G (p.Glu154Gly)	MUC17 (E154G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219545	NM_001040105.2(MUC17):c.467G>A (p.Ser156Asn)	MUC17 (S156N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224676	NM_001040105.2(MUC17):c.502C>G (p.Pro168Ala)	MUC17 (P168A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2657833	NM_001040105.2(MUC17):c.573T>A (p.Ser191=)	MUC17	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2569131	NM_001040105.2(MUC17):c.628A>G (p.Thr210Ala)	MUC17 (T210A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3296879	NM_001040105.2(MUC17):c.704C>G (p.Thr235Ser)	MUC17 (T235S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219840	NM_001040105.2(MUC17):c.722T>C (p.Val241Ala)	MUC17 (V241A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283690	NM_001040105.2(MUC17):c.794T>G (p.Leu265Arg)	MUC17 (L265R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3296846	NM_001040105.2(MUC17):c.841C>T (p.Pro281Ser)	MUC17 (P281S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2657834	NM_001040105.2(MUC17):c.841C>A (p.Pro281Thr)	MUC17 (P281T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2589020	NM_001040105.2(MUC17):c.934G>A (p.Ala312Thr)	MUC17 (A312T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2507423	NM_001040105.2(MUC17):c.1001C>T (p.Thr334Ile)	MUC17 (T334I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219001	NM_001040105.2(MUC17):c.1027A>C (p.Thr343Pro)	MUC17 (T343P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2657835	NM_001040105.2(MUC17):c.1035G>A (p.Pro345=)	MUC17	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3296833	NM_001040105.2(MUC17):c.1039G>A (p.Ala347Thr)	MUC17 (A347T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402675	NM_001040105.2(MUC17):c.1061T>A (p.Leu354His)	MUC17 (L354H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393790	NM_001040105.2(MUC17):c.1120C>T (p.Leu374Phe)	MUC17 (L374F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219131	NM_001040105.2(MUC17):c.1148T>A (p.Met383Lys)	MUC17 (M383K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485594	NM_001040105.2(MUC17):c.1154C>A (p.Thr385Asn)	MUC17 (T385N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268254	NM_001040105.2(MUC17):c.1194G>A (p.Met398Ile)	MUC17 (M398I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3296858	NM_001040105.2(MUC17):c.1198G>C (p.Val400Leu)	MUC17 (V400L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219176	NM_001040105.2(MUC17):c.1207A>T (p.Ile403Leu)	MUC17 (I403L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326102	NM_001040105.2(MUC17):c.1212G>T (p.Leu404Phe)	MUC17 (L404F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219214	NM_001040105.2(MUC17):c.1233C>G (p.Ser411Arg)	MUC17 (S411R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2657836	NM_001040105.2(MUC17):c.1243A>G (p.Thr415Ala)	MUC17 (T415A)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2270667	NM_001040105.2(MUC17):c.1303A>G (p.Thr435Ala)	MUC17 (T435A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270668	NM_001040105.2(MUC17):c.1304C>A (p.Thr435Lys)	MUC17 (T435K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219260	NM_001040105.2(MUC17):c.1340C>T (p.Pro447Leu)	MUC17 (P447L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3296838	NM_001040105.2(MUC17):c.1349G>A (p.Gly450Glu)	MUC17 (G450E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219270	NM_001040105.2(MUC17):c.1349G>C (p.Gly450Ala)	MUC17 (G450A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219273	NM_001040105.2(MUC17):c.1387C>T (p.Pro463Ser)	MUC17 (P463S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347811	NM_001040105.2(MUC17):c.1409G>C (p.Ser470Thr)	MUC17 (S470T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2269494	NM_001040105.2(MUC17):c.1453A>G (p.Thr485Ala)	MUC17 (T485A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219283	NM_001040105.2(MUC17):c.1460C>G (p.Thr487Ser)	MUC17 (T487S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2657837	NM_001040105.2(MUC17):c.1506A>G (p.Pro502=)	MUC17	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2263321	NM_001040105.2(MUC17):c.1548G>A (p.Met516Ile)	MUC17 (M516I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378942	NM_001040105.2(MUC17):c.1646G>C (p.Ser549Thr)	MUC17 (S549T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219294	NM_001040105.2(MUC17):c.1725G>A (p.Met575Ile)	MUC17 (M575I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3296878	NM_001040105.2(MUC17):c.1748T>C (p.Val583Ala)	MUC17 (V583A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2509441	NM_001040105.2(MUC17):c.1796C>T (p.Thr599Ile)	MUC17 (T599I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525070	NM_001040105.2(MUC17):c.1804A>G (p.Thr602Ala)	MUC17 (T602A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358856	NM_001040105.2(MUC17):c.1843G>C (p.Glu615Gln)	MUC17 (E615Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2657838	NM_001040105.2(MUC17):c.1911C>T (p.Ser637=)	MUC17	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2226673	NM_001040105.2(MUC17):c.1921G>C (p.Val641Leu)	MUC17 (V641L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315773	NM_001040105.2(MUC17):c.1936G>T (p.Ala646Ser)	MUC17 (A646S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485863	NM_001040105.2(MUC17):c.2044A>G (p.Thr682Ala)	MUC17 (T682A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516776	NM_001040105.2(MUC17):c.2060G>A (p.Ser687Asn)	MUC17 (S687N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3296844	NM_001040105.2(MUC17):c.2061C>A (p.Ser687Arg)	MUC17 (S687R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464849	NM_001040105.2(MUC17):c.2077A>G (p.Met693Val)	MUC17 (M693V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219322	NM_001040105.2(MUC17):c.2101G>T (p.Ala701Ser)	MUC17 (A701S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235699	NM_001040105.2(MUC17):c.2135C>T (p.Pro712Leu)	MUC17 (P712L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299697	NM_001040105.2(MUC17):c.2144C>A (p.Thr715Asn)	MUC17 (T715N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219332	NM_001040105.2(MUC17):c.2201G>A (p.Gly734Asp)	MUC17 (G734D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3296842	NM_001040105.2(MUC17):c.2224C>T (p.Pro742Ser)	MUC17 (P742S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3296843	NM_001040105.2(MUC17):c.2225C>A (p.Pro742His)	MUC17 (P742H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238863	NM_001040105.2(MUC17):c.2257C>A (p.Pro753Thr)	MUC17 (P753T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2657839	NM_001040105.2(MUC17):c.2346T>C (p.Thr782=)	MUC17	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2311804	NM_001040105.2(MUC17):c.2388G>T (p.Met796Ile)	MUC17 (M796I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544042	NM_001040105.2(MUC17):c.2416C>T (p.Pro806Ser)	MUC17 (P806S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353127	NM_001040105.2(MUC17):c.2434C>A (p.Pro812Thr)	MUC17 (P812T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360271	NM_001040105.2(MUC17):c.2450C>T (p.Pro817Leu)	MUC17 (P817L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219346	NM_001040105.2(MUC17):c.2467G>A (p.Ala823Thr)	MUC17 (A823T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356857	NM_001040105.2(MUC17):c.2503A>C (p.Ser835Arg)	MUC17 (S835R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226250	NM_001040105.2(MUC17):c.2507C>T (p.Pro836Leu)	MUC17 (P836L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219351	NM_001040105.2(MUC17):c.2558C>T (p.Thr853Ile)	MUC17 (T853I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317908	NM_001040105.2(MUC17):c.2564T>C (p.Met855Thr)	MUC17 (M855T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517374	NM_001040105.2(MUC17):c.2578T>C (p.Tyr860His)	MUC17 (Y860H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342301	NM_001040105.2(MUC17):c.2587G>C (p.Gly863Arg)	MUC17 (G863R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219363	NM_001040105.2(MUC17):c.2592A>C (p.Arg864Ser)	MUC17 (R864S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2214230	NM_001040105.2(MUC17):c.2596C>A (p.Pro866Thr)	MUC17 (P866T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3296860	NM_001040105.2(MUC17):c.2597C>T (p.Pro866Leu)	MUC17 (P866L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219368	NM_001040105.2(MUC17):c.2605A>G (p.Ser869Gly)	MUC17 (S869G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219372	NM_001040105.2(MUC17):c.2608A>G (p.Met870Val)	MUC17 (M870V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459096	NM_001040105.2(MUC17):c.2626C>G (p.Leu876Val)	MUC17 (L876V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3296889	NM_001040105.2(MUC17):c.2792A>T (p.Asp931Val)	MUC17 (D931V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2215715	NM_001040105.2(MUC17):c.2879A>G (p.Glu960Gly)	MUC17 (E960G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219385	NM_001040105.2(MUC17):c.2905G>A (p.Glu969Lys)	MUC17 (E969K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219388	NM_001040105.2(MUC17):c.2911A>G (p.Thr971Ala)	MUC17 (T971A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219392	NM_001040105.2(MUC17):c.2924C>A (p.Thr975Asn)	MUC17 (T975N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219396	NM_001040105.2(MUC17):c.2944A>G (p.Thr982Ala)	MUC17 (T982A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2565595	NM_001040105.2(MUC17):c.3141G>A (p.Met1047Ile)	MUC17 (M1047I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219411	NM_001040105.2(MUC17):c.3190A>T (p.Thr1064Ser)	MUC17 (T1064S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511011	NM_001040105.2(MUC17):c.3202G>A (p.Asp1068Asn)	MUC17 (D1068N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219420	NM_001040105.2(MUC17):c.3284C>T (p.Thr1095Ile)	MUC17 (T1095I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219428	NM_001040105.2(MUC17):c.3300C>A (p.Ser1100Arg)	MUC17 (S1100R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

<< First< Prev

Page of 5