7571[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	ACADVL, ACAP1 +461 more	Copy number gain	See cases	GPathogenic
Select item 221395	GRCh38/hg38 17p13.1-12(chr17:9701182-11983353)x1	ADPRM, DHRS7C +57 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 1184412	NC_000017.11:g.10078000_10512000dup	MYH13, MYH4 +18 more	Duplication	not provided	GUncertain significance
Select item 60132	GRCh38/hg38 17p13.1(chr17:10084941-10502052)x3	GAS7, LOC112529894 +17 more	Copy number gain	See cases	GUncertain significance
Select item 1098572	GRCh38/hg38 17p13.1(chr17:10106970-10512523)x3	GAS7, LOC112529894 +18 more	Copy number gain	See cases	GUncertain significance
Select item 150569	GRCh38/hg38 17p13.1(chr17:10112898-10444811)x3	GAS7, LOC112529894 +12 more	Copy number gain	See cases	GUncertain significance
Select item 60133	GRCh38/hg38 17p13.1(chr17:10112910-10477423)x3	GAS7, LOC112529894 +14 more	Copy number gain	See cases	GUncertain significance
Select item 147857	GRCh38/hg38 17p13.1(chr17:10145851-10464716)x3	GAS7, LOC112529894 +13 more	Copy number gain	See cases	GUncertain significance
Select item 2377148	NM_003802.3(MYH13):c.5753A>T (p.Glu1918Val)	MYH13 (E1918V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484768	NM_003802.3(MYH13):c.5731G>A (p.Ala1911Thr)	MYH13 (A1911T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156619	NM_003802.3(MYH13):c.5606A>T (p.Gln1869Leu)	MYH13 (Q1869L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320591	NM_003802.3(MYH13):c.5586C>A (p.His1862Gln)	MYH13 (H1862Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223543	NM_003802.3(MYH13):c.5577G>C (p.Glu1859Asp)	MYH13 (E1859D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519610	NM_003802.3(MYH13):c.5560A>G (p.Met1854Val)	MYH13 (M1854V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156605	NM_003802.3(MYH13):c.5557G>C (p.Glu1853Gln)	MYH13 (E1853Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156602	NM_003802.3(MYH13):c.5471G>A (p.Arg1824Gln)	MYH13 (R1824Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592105	NM_003802.3(MYH13):c.5434G>A (p.Gly1812Arg)	MYH13 (G1812R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542881	NM_003802.3(MYH13):c.5429A>G (p.Lys1810Arg)	MYH13 (K1810R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383462	NM_003802.3(MYH13):c.5423C>T (p.Ala1808Val)	MYH13 (A1808V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244118	NM_003802.3(MYH13):c.5384A>C (p.Lys1795Thr)	MYH13 (K1795T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156588	NM_003802.3(MYH13):c.5378C>T (p.Thr1793Met)	MYH13 (T1793M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211611	NM_003802.3(MYH13):c.5354G>A (p.Arg1785Gln)	MYH13 (R1785Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3156579	NM_003802.3(MYH13):c.5353C>T (p.Arg1785Trp)	MYH13 (R1785W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034936	NM_003802.3(MYH13):c.5326G>A (p.Glu1776Lys)	MYH13 (E1776K)	Single nucleotide variant (missense variant)	MYH13-related disorder	GLikely benign
Select item 3156574	NM_003802.3(MYH13):c.5291C>T (p.Thr1764Met)	MYH13 (T1764M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464333	NM_003802.3(MYH13):c.5233G>A (p.Val1745Met)	MYH13 (V1745M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297400	NM_003802.3(MYH13):c.5170A>G (p.Asn1724Asp)	MYH13 (N1724D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380007	NM_003802.3(MYH13):c.5124G>C (p.Gln1708His)	MYH13 (Q1708H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588313	NM_003802.3(MYH13):c.5098G>A (p.Glu1700Lys)	MYH13 (E1700K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297387	NM_003802.3(MYH13):c.5020C>A (p.Gln1674Lys)	MYH13 (Q1674K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225042	NM_003802.3(MYH13):c.5017G>A (p.Glu1673Lys)	MYH13 (E1673K)	Single nucleotide variant (missense variant)	MYH13-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2212817	NM_003802.3(MYH13):c.5011C>T (p.Leu1671Phe)	MYH13 (L1671F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2672288	NM_003802.3(MYH13):c.5003A>G (p.Asn1668Ser)	MYH13 (N1668S)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2225358	NM_003802.3(MYH13):c.4960C>T (p.Leu1654Phe)	MYH13 (L1654F)	Single nucleotide variant (missense variant)	MYH13-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3156548	NM_003802.3(MYH13):c.4946C>T (p.Thr1649Met)	MYH13 (T1649M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297386	NM_003802.3(MYH13):c.4912C>G (p.Arg1638Gly)	MYH13 (R1638G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326937	NM_003802.3(MYH13):c.4903C>A (p.His1635Asn)	MYH13 (H1635N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548548	NM_003802.3(MYH13):c.4869G>C (p.Glu1623Asp)	MYH13 (E1623D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403256	NM_003802.3(MYH13):c.4866G>A (p.Met1622Ile)	MYH13 (M1622I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156536	NM_003802.3(MYH13):c.4843G>T (p.Ala1615Ser)	MYH13 (A1615S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297394	NM_003802.3(MYH13):c.4814T>A (p.Leu1605Gln)	MYH13 (L1605Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258306	NM_003802.3(MYH13):c.4802T>C (p.Leu1601Pro)	MYH13 (L1601P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225686	NM_003802.3(MYH13):c.4589C>T (p.Ala1530Val)	MYH13 (A1530V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2551529	NM_003802.3(MYH13):c.4518C>A (p.Asn1506Lys)	MYH13 (N1506K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156515	NM_003802.3(MYH13):c.4511G>A (p.Arg1504Gln)	MYH13 (R1504Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156511	NM_003802.3(MYH13):c.4363A>C (p.Lys1455Gln)	MYH13 (K1455Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403650	NM_003802.3(MYH13):c.4360G>A (p.Asp1454Asn)	MYH13 (D1454N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297379	NM_003802.3(MYH13):c.4324G>A (p.Ala1442Thr)	MYH13 (A1442T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371902	NM_003802.3(MYH13):c.4313G>A (p.Arg1438His)	MYH13 (R1438H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608589	NM_003802.3(MYH13):c.4291G>T (p.Asp1431Tyr)	MYH13 (D1431Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249844	NM_003802.3(MYH13):c.4250C>T (p.Ser1417Leu)	MYH13 (S1417L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221869	NM_003802.3(MYH13):c.4232C>T (p.Ala1411Val)	MYH13 (A1411V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3156492	NM_003802.3(MYH13):c.4223C>T (p.Thr1408Met)	MYH13 (T1408M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338982	NM_003802.3(MYH13):c.4192G>T (p.Ala1398Ser)	MYH13 (A1398S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156485	NM_003802.3(MYH13):c.4157G>A (p.Arg1386His)	MYH13 (R1386H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219318	NM_003802.3(MYH13):c.4156C>T (p.Arg1386Cys)	MYH13 (R1386C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518487	NM_003802.3(MYH13):c.4144G>A (p.Asp1382Asn)	MYH13 (D1382N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156478	NM_003802.3(MYH13):c.4130C>T (p.Thr1377Ile)	MYH13 (T1377I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647467	NM_003802.3(MYH13):c.4119C>T (p.Ala1373=)	MYH13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2303653	NM_003802.3(MYH13):c.4100A>G (p.Lys1367Arg)	MYH13 (K1367R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297380	NM_003802.3(MYH13):c.4043G>C (p.Arg1348Pro)	MYH13 (R1348P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272902	NM_003802.3(MYH13):c.4043G>A (p.Arg1348Gln)	MYH13 (R1348Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401921	NM_003802.3(MYH13):c.4021C>T (p.Arg1341Cys)	MYH13 (R1341C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272626	NM_003802.3(MYH13):c.4007C>G (p.Ala1336Gly)	MYH13 (A1336G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156468	NM_003802.3(MYH13):c.4001C>T (p.Ala1334Val)	MYH13 (A1334V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546383	NM_003802.3(MYH13):c.3917C>T (p.Thr1306Ile)	MYH13 (T1306I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647468	NM_003802.3(MYH13):c.3897G>T (p.Glu1299Asp)	MYH13 (E1299D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3297399	NM_003802.3(MYH13):c.3845C>A (p.Ala1282Glu)	MYH13 (A1282E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292709	NM_003802.3(MYH13):c.3836T>C (p.Met1279Thr)	MYH13 (M1279T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570396	NM_003802.3(MYH13):c.3820A>T (p.Ile1274Phe)	MYH13 (I1274F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156448	NM_003802.3(MYH13):c.3814C>G (p.Gln1272Glu)	MYH13 (Q1272E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560169	NM_003802.3(MYH13):c.3801C>G (p.Asp1267Glu)	MYH13 (D1267E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400370	NM_003802.3(MYH13):c.3799G>A (p.Asp1267Asn)	MYH13 (D1267N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387046	NM_003802.3(MYH13):c.3773A>T (p.Asp1258Val)	MYH13 (D1258V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297383	NM_003802.3(MYH13):c.3760C>T (p.Arg1254Trp)	MYH13 (R1254W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156434	NM_003802.3(MYH13):c.3704T>A (p.Met1235Lys)	MYH13 (M1235K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599804	NM_003802.3(MYH13):c.3679G>A (p.Glu1227Lys)	MYH13 (E1227K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2672277	NM_003802.3(MYH13):c.3647G>A (p.Arg1216Gln)	MYH13 (R1216Q)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2344408	NM_003802.3(MYH13):c.3630G>C (p.Gln1210His)	MYH13 (Q1210H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396417	NM_003802.3(MYH13):c.3568G>A (p.Glu1190Lys)	MYH13 (E1190K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373810	NM_003802.3(MYH13):c.3536G>A (p.Arg1179His)	MYH13 (R1179H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591387	NM_003802.3(MYH13):c.3474T>A (p.Ser1158Arg)	MYH13 (S1158R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297391	NM_003802.3(MYH13):c.3445G>A (p.Glu1149Lys)	MYH13 (E1149K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3036627	NM_003802.3(MYH13):c.3329AGA[1] (p.Lys1111del)	MYH13 (K1111del)	Microsatellite (inframe deletion)	MYH13-related disorder	GLikely benign
Select item 3297396	NM_003802.3(MYH13):c.3330G>C (p.Lys1110Asn)	MYH13 (K1110N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386603	NM_003802.3(MYH13):c.3293T>C (p.Ile1098Thr)	MYH13 (I1098T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156412	NM_003802.3(MYH13):c.3271C>T (p.Leu1091Phe)	MYH13 (L1091F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296260	NM_003802.3(MYH13):c.3270A>T (p.Glu1090Asp)	MYH13 (E1090D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347737	NM_003802.3(MYH13):c.3167A>G (p.Lys1056Arg)	MYH13 (K1056R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297390	NM_003802.3(MYH13):c.3162G>C (p.Arg1054Ser)	MYH13 (R1054S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156407	NM_003802.3(MYH13):c.3143T>C (p.Leu1048Pro)	MYH13 (L1048P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255153	NM_003802.3(MYH13):c.3129G>T (p.Glu1043Asp)	MYH13 (E1043D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297388	NM_003802.3(MYH13):c.3118G>A (p.Gly1040Ser)	MYH13 (G1040S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156399	NM_003802.3(MYH13):c.3091C>T (p.Leu1031Phe)	MYH13 (L1031F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304044	NM_003802.3(MYH13):c.3013G>C (p.Glu1005Gln)	MYH13 (E1005Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355417	NM_003802.3(MYH13):c.3000G>C (p.Lys1000Asn)	MYH13 (K1000N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395807	NM_003802.3(MYH13):c.2838T>A (p.Asn946Lys)	MYH13 (N946K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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