MAPT-AS1[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 137

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 148960	GRCh38/hg38 17q21.31(chr17:45516110-46211895)x1	CRHR1, KANSL1 +11 more	Copy number loss	See cases	GPathogenic
Select item 153206	GRCh38/hg38 17q21.31(chr17:45544831-46124104)x1	CRHR1, KANSL1 +9 more	Copy number loss	See cases	GPathogenic
Select item 154006	GRCh38/hg38 17q21.31(chr17:45571125-46137522)x1	LOC121852934, CRHR1 +9 more	Copy number loss	See cases	GPathogenic
Select item 148313	GRCh38/hg38 17q21.31(chr17:45574365-46273786)x1	CRHR1, KANSL1 +12 more	Copy number loss	See cases	GPathogenic
Select item 57524	GRCh38/hg38 17q21.31(chr17:45575861-46274278)x1	ARL17B, CRHR1 +13 more	Copy number loss	See cases	GPathogenic
Select item 160838	GRCh38/hg38 17q21.31(chr17:45578381-46273786)x1	CRHR1, KANSL1 +12 more	Copy number loss	See cases	GPathogenic
Select item 148153	GRCh38/hg38 17q21.31(chr17:45578381-46177048)x1	LOC121852934, CRHR1 +10 more	Copy number loss	See cases	GPathogenic
Select item 144496	GRCh38/hg38 17q21.31(chr17:45578381-46130670)x1	CRHR1, KANSL1 +9 more	Copy number loss	See cases	GPathogenic
Select item 57290	GRCh38/hg38 17q21.31(chr17:45578381-46111134)x1	CRHR1, KANSL1 +9 more	Copy number loss	See cases	GPathogenic
Select item 35239	GRCh38/hg38 17q21.31(chr17:45578381-46273786)x1	CRHR1, KANSL1 +12 more	Copy number loss	See cases	GPathogenic
Select item 150568	GRCh38/hg38 17q21.31(chr17:45579327-46661960)x1	ARL17A, ARL17B +19 more	Copy number loss	See cases	GPathogenic
Select item 150548	GRCh38/hg38 17q21.31(chr17:45579327-46130578)x1	CRHR1, KANSL1 +9 more	Copy number loss	See cases	GPathogenic
Select item 57525	GRCh38/hg38 17q21.31(chr17:45598042-46273786)x1	CRHR1, KANSL1 +12 more	Copy number loss	See cases	GPathogenic
Select item 57526	GRCh38/hg38 17q21.31(chr17:45616241-46136454)x1	LOC121852934, CRHR1 +9 more	Copy number loss	See cases	GPathogenic
Select item 155320	GRCh38/hg38 17q21.31(chr17:45626435-46110126)x1	CRHR1, KANSL1 +9 more	Copy number loss	See cases	GPathogenic
Select item 161014	GRCh38/hg38 17q21.31(chr17:45629520-46111134)x1	CRHR1, KANSL1 +9 more	Copy number loss	See cases	GPathogenic
Select item 148938	GRCh38/hg38 17q21.31(chr17:45629520-46094581)x1	CRHR1, KANSL1 +9 more	Copy number loss	See cases	GPathogenic
Select item 148520	GRCh38/hg38 17q21.31(chr17:45629520-46079192)x3	CRHR1, KANSL1 +9 more	Copy number gain	See cases	GUncertain significance
Select item 148451	GRCh38/hg38 17q21.31(chr17:45629520-46273786)x1	CRHR1, KANSL1 +12 more	Copy number loss	See cases	GPathogenic
Select item 145067	GRCh38/hg38 17q21.31(chr17:45629520-46130611)x1	CRHR1, KANSL1 +9 more	Copy number loss	See cases	GPathogenic
Select item 57538	GRCh38/hg38 17q21.31(chr17:45629520-46098805)x1	LOC121852934, CRHR1 +9 more	Copy number loss	See cases	GPathogenic
Select item 57528	GRCh38/hg38 17q21.31(chr17:45629520-46051878)x1	CRHR1, KANSL1 +9 more	Copy number loss	See cases	GPathogenic
Select item 57279	GRCh38/hg38 17q21.31(chr17:45629520-46061206)x1	CRHR1, KANSL1 +9 more	Copy number loss	See cases	GPathogenic
Select item 57050	GRCh38/hg38 17q21.31(chr17:45629520-46661960)x1	ARL17A, ARL17B +19 more	Copy number loss	See cases	GPathogenic
Select item 32010	GRCh38/hg38 17q21.31(chr17:45629520-46111134)x1	CRHR1, KANSL1 +9 more	Copy number loss	See cases	GPathogenic
Select item 57539	GRCh38/hg38 17q21.31(chr17:45637714-46118962)x1	CRHR1, KANSL1 +9 more	Copy number loss	See cases	GPathogenic
Select item 147646	GRCh38/hg38 17q21.31(chr17:45640337-46267672)x1	CRHR1, KANSL1 +12 more	Copy number loss	See cases	GPathogenic
Select item 57540	GRCh38/hg38 17q21.31(chr17:45640337-46273786)x1	CRHR1, KANSL1 +12 more	Copy number loss	See cases	GPathogenic
Select item 148620	GRCh38/hg38 17q21.31(chr17:45674308-45941967)x3	CRHR1, LINC02210-CRHR1 +6 more	Copy number gain	See cases	GUncertain significance
Select item 146297	GRCh38/hg38 17q21.31(chr17:45674308-45898400)x3	CRHR1, LINC02210-CRHR1 +6 more	Copy number gain	See cases	GUncertain significance
Select item 57541	GRCh38/hg38 17q21.31(chr17:45674308-46273786)x1	CRHR1, KANSL1 +11 more	Copy number loss	See cases	GPathogenic
Select item 2372251	NM_175882.3(SPPL2C):c.28G>A (p.Val10Met)	MAPT-AS1, SPPL2C (V10M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284970	NM_175882.3(SPPL2C):c.28G>T (p.Val10Leu)	MAPT-AS1, SPPL2C (V10L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478885	NM_175882.3(SPPL2C):c.43C>A (p.Leu15Ile)	MAPT-AS1, SPPL2C (L15I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3169353	NM_175882.3(SPPL2C):c.46A>C (p.Ile16Leu)	MAPT-AS1, SPPL2C (I16L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169354	NM_175882.3(SPPL2C):c.47T>G (p.Ile16Ser)	MAPT-AS1, SPPL2C (I16S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331381	NM_175882.3(SPPL2C):c.61G>A (p.Gly21Arg)	MAPT-AS1, SPPL2C (G21R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2344625	NM_175882.3(SPPL2C):c.76G>A (p.Val26Met)	MAPT-AS1, SPPL2C (V26M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390368	NM_175882.3(SPPL2C):c.85G>A (p.Val29Met)	MAPT-AS1, SPPL2C (V29M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787567	NM_175882.3(SPPL2C):c.137A>G (p.Tyr46Cys)	MAPT-AS1, SPPL2C (Y46C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3322350	NM_175882.3(SPPL2C):c.152G>A (p.Arg51Gln)	MAPT-AS1, SPPL2C (R51Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3169346	NM_175882.3(SPPL2C):c.156C>A (p.Asp52Glu)	MAPT-AS1, SPPL2C (D52E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275496	NM_175882.3(SPPL2C):c.187G>A (p.Asp63Asn)	MAPT-AS1, SPPL2C (D63N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769920	NM_175882.3(SPPL2C):c.202C>T (p.Pro68Ser)	MAPT-AS1, SPPL2C (P68S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2610519	NM_175882.3(SPPL2C):c.214G>C (p.Gly72Arg)	MAPT-AS1, SPPL2C (G72R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169349	NM_175882.3(SPPL2C):c.217G>A (p.Glu73Lys)	MAPT-AS1, SPPL2C (E73K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781369	NM_175882.3(SPPL2C):c.229C>T (p.His77Tyr)	MAPT-AS1, SPPL2C (H77Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2387250	NM_175882.3(SPPL2C):c.245G>A (p.Arg82His)	MAPT-AS1, SPPL2C (R82H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731815	NM_175882.3(SPPL2C):c.263C>T (p.Pro88Leu)	MAPT-AS1, SPPL2C (P88L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3169350	NM_175882.3(SPPL2C):c.302G>A (p.Cys101Tyr)	MAPT-AS1, SPPL2C (C101Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292276	NM_175882.3(SPPL2C):c.314C>T (p.Thr105Met)	MAPT-AS1, SPPL2C (T105M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169351	NM_175882.3(SPPL2C):c.359T>C (p.Ile120Thr)	MAPT-AS1, SPPL2C (I120T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1288972	NM_175882.3(SPPL2C):c.368G>A (p.Arg123Gln)	MAPT-AS1, SPPL2C (R123Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3169352	NM_175882.3(SPPL2C):c.376G>A (p.Asp126Asn)	MAPT-AS1, SPPL2C (D126N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522305	NM_175882.3(SPPL2C):c.395C>G (p.Thr132Ser)	MAPT-AS1, SPPL2C (T132S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348049	NM_175882.3(SPPL2C):c.400C>A (p.Leu134Met)	MAPT-AS1, SPPL2C (L134M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347688	NM_175882.3(SPPL2C):c.409C>A (p.Gln137Lys)	MAPT-AS1, SPPL2C (Q137K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610165	NM_175882.3(SPPL2C):c.457C>G (p.Leu153Val)	MAPT-AS1, SPPL2C (L153V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322353	NM_175882.3(SPPL2C):c.506C>A (p.Ala169Asp)	MAPT-AS1, SPPL2C (A169D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214164	NM_175882.3(SPPL2C):c.511G>A (p.Val171Ile)	MAPT-AS1, SPPL2C (V171I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787457	NM_175882.3(SPPL2C):c.516C>T (p.Arg172=)	MAPT-AS1, SPPL2C	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 787458	NM_175882.3(SPPL2C):c.528C>T (p.Tyr176=)	MAPT-AS1, SPPL2C	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2513487	NM_175882.3(SPPL2C):c.529G>A (p.Ala177Thr)	MAPT-AS1, SPPL2C (A177T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354974	NM_175882.3(SPPL2C):c.542C>A (p.Pro181His)	MAPT-AS1, SPPL2C (P181H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489168	NM_175882.3(SPPL2C):c.586G>A (p.Gly196Ser)	MAPT-AS1, SPPL2C (G196S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780443	NM_175882.3(SPPL2C):c.603C>T (p.Gly201=)	MAPT-AS1, SPPL2C	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3169356	NM_175882.3(SPPL2C):c.616G>A (p.Gly206Ser)	MAPT-AS1, SPPL2C (G206S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264891	NM_175882.3(SPPL2C):c.635G>A (p.Arg212Gln)	MAPT-AS1, SPPL2C (R212Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 747822	NM_175882.3(SPPL2C):c.639A>G (p.Leu213=)	MAPT-AS1, SPPL2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3169357	NM_175882.3(SPPL2C):c.643C>T (p.Arg215Trp)	MAPT-AS1, SPPL2C (R215W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408127	NM_175882.3(SPPL2C):c.644G>A (p.Arg215Gln)	MAPT-AS1, SPPL2C (R215Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378297	NM_175882.3(SPPL2C):c.649C>T (p.Arg217Cys)	MAPT-AS1, SPPL2C (R217C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283709	NM_175882.3(SPPL2C):c.665G>C (p.Gly222Ala)	MAPT-AS1, SPPL2C (G222A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619385	NM_175882.3(SPPL2C):c.758C>T (p.Pro253Leu)	MAPT-AS1, SPPL2C (P253L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370156	NM_175882.3(SPPL2C):c.772G>A (p.Val258Met)	MAPT-AS1, SPPL2C (V258M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364518	NM_175882.3(SPPL2C):c.772G>T (p.Val258Leu)	MAPT-AS1, SPPL2C (V258L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223616	NM_175882.3(SPPL2C):c.800T>G (p.Met267Arg)	MAPT-AS1, SPPL2C (M267R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260563	NM_175882.3(SPPL2C):c.845T>C (p.Ile282Thr)	MAPT-AS1, SPPL2C (I282T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322352	NM_175882.3(SPPL2C):c.862G>A (p.Gly288Ser)	MAPT-AS1, SPPL2C (G288S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301952	NM_175882.3(SPPL2C):c.871A>T (p.Ile291Phe)	MAPT-AS1, SPPL2C (I291F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247194	NM_175882.3(SPPL2C):c.919C>T (p.Arg307Trp)	MAPT-AS1, SPPL2C (R307W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2647850	NM_175882.3(SPPL2C):c.920G>A (p.Arg307Gln)	MAPT-AS1, SPPL2C (R307Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3322354	NM_175882.3(SPPL2C):c.938C>T (p.Pro313Leu)	MAPT-AS1, SPPL2C (P313L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2349940	NM_175882.3(SPPL2C):c.940C>A (p.His314Asn)	MAPT-AS1, SPPL2C (H314N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287136	NM_175882.3(SPPL2C):c.983C>T (p.Ala328Val)	MAPT-AS1, SPPL2C (A328V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 729537	NM_175882.3(SPPL2C):c.992G>T (p.Cys331Phe)	MAPT-AS1, SPPL2C (C331F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3169337	NM_175882.3(SPPL2C):c.1024C>T (p.Arg342Cys)	MAPT-AS1, SPPL2C (R342C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169338	NM_175882.3(SPPL2C):c.1036C>T (p.Arg346Cys)	MAPT-AS1, SPPL2C (R346C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359735	NM_175882.3(SPPL2C):c.1087G>A (p.Val363Ile)	MAPT-AS1, SPPL2C (V363I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169339	NM_175882.3(SPPL2C):c.1096C>T (p.Arg366Cys)	MAPT-AS1, SPPL2C (R366C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169340	NM_175882.3(SPPL2C):c.1097G>A (p.Arg366His)	MAPT-AS1, SPPL2C (R366H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491804	NM_175882.3(SPPL2C):c.1103G>A (p.Arg368Gln)	MAPT-AS1, SPPL2C (R368Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326794	NM_175882.3(SPPL2C):c.1109C>T (p.Pro370Leu)	MAPT-AS1, SPPL2C (P370L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713382	NM_175882.3(SPPL2C):c.1138C>T (p.Leu380=)	MAPT-AS1, SPPL2C	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3169341	NM_175882.3(SPPL2C):c.1178C>A (p.Thr393Asn)	MAPT-AS1, SPPL2C (T393N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169343	NM_175882.3(SPPL2C):c.1265T>G (p.Met422Arg)	MAPT-AS1, SPPL2C (M422R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169344	NM_175882.3(SPPL2C):c.1283G>A (p.Arg428Gln)	MAPT-AS1, SPPL2C (R428Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169345	NM_175882.3(SPPL2C):c.1286T>G (p.Leu429Arg)	MAPT-AS1, SPPL2C (L429R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

<< First< Prev

Page of 2