23312[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 1557

<< First< Prev

Page of 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146334	GRCh38/hg38 15q21.1-21.2(chr15:47460844-52494222)x1	AP4E1, ATP8B4 +190 more	Copy number loss	See cases	GPathogenic
Select item 57881	GRCh38/hg38 15q21.2-22.2(chr15:50864913-59646577)x1	ADAM10, ALDH1A2 +287 more	Copy number loss	See cases	GPathogenic
Select item 147481	GRCh38/hg38 15q21.2-21.3(chr15:51276690-57088386)x1	ARPP19, ATOSA +176 more	Copy number loss	See cases	GPathogenic
Select item 17825	NC_000015.10:g.(51338597_?)_(51829837_51862810)inv	DMXL2, GLDN +27 more	Inversion	Aromatase excess syndrome	GPathogenic
Select item 17824	NC_000015.10:g.(51338597_?)_(?_57376504)inv	LOC105370829, LOC108281154 +179 more	Inversion	Aromatase excess syndrome	GPathogenic
Select item 1279906	NM_001378457.1(DMXL2):c.*125C>T	DMXL2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 758214	NM_001378457.1(DMXL2):c.9174A>G (p.Leu3058=)	DMXL2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1918724	NM_001378457.1(DMXL2):c.9172C>T (p.Leu3058=)	DMXL2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1983025	NM_001378457.1(DMXL2):c.9167A>G (p.Asp3056Gly)	DMXL2 (D3034G +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2102646	NM_001378457.1(DMXL2):c.9163_9165del (p.Leu3055del)	DMXL2 (L3033del +6 more)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2116673	NM_001378457.1(DMXL2):c.9164T>G (p.Leu3055Arg)	DMXL2 (L3055R +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1430195	NM_001378457.1(DMXL2):c.9163C>T (p.Leu3055Phe)	DMXL2 (L2397F +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2021776	NM_001378457.1(DMXL2):c.9151C>T (p.Pro3051Ser)	DMXL2 (P2955S +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 745168	NM_001378457.1(DMXL2):c.9150C>A (p.Ile3050=)	DMXL2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1903118	NM_001378457.1(DMXL2):c.9134C>T (p.Pro3045Leu)	DMXL2 (P2387L +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1912549	NM_001378457.1(DMXL2):c.9120A>G (p.Lys3040=)	DMXL2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2527504	NM_001378457.1(DMXL2):c.9115C>G (p.Leu3039Val)	DMXL2 (L2381V +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2413758	NM_001378457.1(DMXL2):c.9114G>A (p.Thr3038=)	DMXL2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 743399	NM_001378457.1(DMXL2):c.9096C>T (p.Ser3032=)	DMXL2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2852915	NM_001378457.1(DMXL2):c.9090C>T (p.Leu3030=)	DMXL2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2629208	NM_001378457.1(DMXL2):c.9085C>T (p.Arg3029Trp)	DMXL2 (R2334W +6 more)	Single nucleotide variant (missense variant +1 more)	DMXL2-related disorder	GUncertain significance
Select item 1933759	NM_001378457.1(DMXL2):c.9083A>G (p.Asn3028Ser)	DMXL2 (N2932S +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2182851	NM_001378457.1(DMXL2):c.9080G>A (p.Gly3027Asp)	DMXL2 (G2332D +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2008078	NM_001378457.1(DMXL2):c.9080del (p.Gly3027fs)	DMXL2 (G2369fs +6 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2115673	NM_001378457.1(DMXL2):c.9063G>A (p.Gln3021=)	DMXL2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1601206	NM_001378457.1(DMXL2):c.9044T>C (p.Ile3015Thr)	DMXL2 (I2320T +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2975671	NM_001378457.1(DMXL2):c.9042C>T (p.Asn3014=)	DMXL2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3083285	NM_001378457.1(DMXL2):c.9031A>G (p.Ile3011Val)	DMXL2 (I2316V +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2036445	NM_001378457.1(DMXL2):c.9027G>A (p.Gln3009=)	DMXL2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1922467	NM_001378457.1(DMXL2):c.9027G>C (p.Gln3009His)	DMXL2 (Q2314H +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2961412	NM_001378457.1(DMXL2):c.9021T>C (p.Ala3007=)	DMXL2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1941517	NM_001378457.1(DMXL2):c.9015A>C (p.Glu3005Asp)	DMXL2 (E2909D +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2732864	NM_001378457.1(DMXL2):c.8994A>G (p.Leu2998=)	DMXL2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2768142	NM_001378457.1(DMXL2):c.8968-3T>C	DMXL2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1924886	NM_001378457.1(DMXL2):c.8968-6C>T	DMXL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2174041	NM_001378457.1(DMXL2):c.8968-36_8968-8dup	DMXL2	Duplication (intron variant)	not provided	GLikely benign
Select item 1277131	NM_001378457.1(DMXL2):c.8968-189G>A	DMXL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1529476	NM_001378457.1(DMXL2):c.8967+19T>C	DMXL2, LOC126862131	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2979350	NM_001378457.1(DMXL2):c.8967+18G>C	DMXL2, LOC126862131	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1918149	NM_001378457.1(DMXL2):c.8967+14A>G	DMXL2, LOC126862131	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1912546	NM_001378457.1(DMXL2):c.8967+13A>G	DMXL2, LOC126862131	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2077475	NM_001378457.1(DMXL2):c.8967+12C>T	DMXL2, LOC126862131	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1944476	NM_001378457.1(DMXL2):c.8967+12C>G	DMXL2, LOC126862131	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 735529	NM_001378457.1(DMXL2):c.8967+9G>C	DMXL2, LOC126862131	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960487	NM_001378457.1(DMXL2):c.8940C>A (p.Thr2980=)	DMXL2, LOC126862131	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1960350	NM_001378457.1(DMXL2):c.8940C>T (p.Thr2980=)	DMXL2, LOC126862131	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1714642	NM_001378457.1(DMXL2):c.8924A>G (p.Tyr2975Cys)	DMXL2, LOC126862131 (Y2280C +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 732567	NM_001378457.1(DMXL2):c.8910G>A (p.Leu2970=)	DMXL2, LOC126862131	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 871062	NM_001378457.1(DMXL2):c.8898_8901dup (p.Lys2968delinsTyrTer)	DMXL2, LOC126862131	Duplication (nonsense +1 more)	not provided	GUncertain significance
Select item 1996030	NM_001378457.1(DMXL2):c.8895A>C (p.Ser2965=)	DMXL2, LOC126862131	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1383263	NM_001378457.1(DMXL2):c.8885C>T (p.Ala2962Val)	DMXL2, LOC126862131 (A2866V +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2800422	NM_001378457.1(DMXL2):c.8880C>T (p.Phe2960=)	DMXL2, LOC126862131	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1971668	NM_001378457.1(DMXL2):c.8880C>G (p.Phe2960Leu)	DMXL2, LOC126862131 (F2265L +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2802246	NM_001378457.1(DMXL2):c.8877G>A (p.Thr2959=)	DMXL2, LOC126862131	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2069224	NM_001378457.1(DMXL2):c.8877G>C (p.Thr2959=)	DMXL2, LOC126862131	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1478745	NM_001378457.1(DMXL2):c.8876C>G (p.Thr2959Arg)	DMXL2, LOC126862131 (T2301R +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1387364	NM_001378457.1(DMXL2):c.8876C>T (p.Thr2959Met)	DMXL2, LOC126862131 (T2863M +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1942152	NM_001378457.1(DMXL2):c.8868C>T (p.Leu2956=)	DMXL2, LOC126862131	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1963928	NM_001378457.1(DMXL2):c.8865G>A (p.Gln2955=)	DMXL2, LOC126862131	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2815651	NM_001378457.1(DMXL2):c.8862G>A (p.Arg2954=)	DMXL2, LOC126862131	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1713625	NM_001378457.1(DMXL2):c.8857C>G (p.Gln2953Glu)	DMXL2, LOC126862131 (Q2258E +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2961638	NM_001378457.1(DMXL2):c.8850C>T (p.Asp2950=)	DMXL2, LOC126862131	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2824950	NM_001378457.1(DMXL2):c.8842A>G (p.Ile2948Val)	DMXL2, LOC126862131 (I2290V +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1717252	NM_001378457.1(DMXL2):c.8839T>C (p.Cys2947Arg)	LOC126862131, DMXL2 (C2252R +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1396964	NM_001378457.1(DMXL2):c.8836G>A (p.Val2946Ile)	DMXL2, LOC126862131 (V2251I +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1633025	NM_001378457.1(DMXL2):c.8835C>T (p.His2945=)	DMXL2, LOC126862131	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1374569	NM_001378457.1(DMXL2):c.8833C>A (p.His2945Asn)	DMXL2, LOC126862131 (H2287N +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2167437	NM_001378457.1(DMXL2):c.8823T>C (p.Gly2941=)	DMXL2, LOC126862131	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1927818	NM_001378457.1(DMXL2):c.8822G>A (p.Gly2941Asp)	DMXL2, LOC126862131 (G2246D +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3272488	NM_001378457.1(DMXL2):c.8819G>A (p.Gly2940Glu)	DMXL2, LOC126862131 (G2245E +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2096808	NM_001378457.1(DMXL2):c.8819G>C (p.Gly2940Ala)	DMXL2, LOC126862131 (G2844A +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2965787	NM_001378457.1(DMXL2):c.8811A>C (p.Leu2937=)	DMXL2, LOC126862131	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1644963	NM_001378457.1(DMXL2):c.8811A>T (p.Leu2937=)	DMXL2, LOC126862131	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1694747	NM_001378457.1(DMXL2):c.8797A>C (p.Lys2933Gln)	DMXL2, LOC126862131 (K2238Q +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1938777	NM_001378457.1(DMXL2):c.8795C>T (p.Pro2932Leu)	DMXL2, LOC126862131 (P2237L +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1033359	NM_001378457.1(DMXL2):c.8794C>A (p.Pro2932Thr)	DMXL2, LOC126862131 (P2910T +6 more)	Single nucleotide variant (missense variant +1 more)	Polyendocrine-polyneuropathy syndrome	GUncertain significance
Select item 2165497	NM_001378457.1(DMXL2):c.8778G>A (p.Thr2926=)	DMXL2, LOC126862131	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1991553	NM_001378457.1(DMXL2):c.8777C>T (p.Thr2926Met)	DMXL2, LOC126862131 (T2926M +6 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 2415295	NM_001378457.1(DMXL2):c.8768A>C (p.His2923Pro)	DMXL2, LOC126862131 (H2228P +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1937366	NM_001378457.1(DMXL2):c.8765A>G (p.Asp2922Gly)	DMXL2, LOC126862131 (D2826G +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1176990	NM_001378457.1(DMXL2):c.8763C>T (p.His2921=)	DMXL2, LOC126862131	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2013643	NM_001378457.1(DMXL2):c.8757G>T (p.Thr2919=)	DMXL2, LOC126862131	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1377791	NM_001378457.1(DMXL2):c.8756C>T (p.Thr2919Met)	DMXL2, LOC126862131 (T2823M +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1916051	NM_001378457.1(DMXL2):c.8750-11TTC[2]	DMXL2, LOC126862131	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2692696	NM_001378457.1(DMXL2):c.8750-12T>C	LOC126862131, DMXL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2098544	NM_001378457.1(DMXL2):c.8750-20_8750-19del	DMXL2, LOC126862131	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2023915	NM_001378457.1(DMXL2):c.8750-19T>C	LOC126862131, DMXL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1280117	NM_001378457.1(DMXL2):c.8749+124A>G	DMXL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1899768	NM_001378457.1(DMXL2):c.8749+15A>G	DMXL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2874845	NM_001378457.1(DMXL2):c.8749+13C>G	DMXL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2018716	NM_001378457.1(DMXL2):c.8749+11G>T	DMXL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2864818	NM_001378457.1(DMXL2):c.8749+10G>T	DMXL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1471942	NM_001378457.1(DMXL2):c.8746C>T (p.His2916Tyr)	DMXL2 (H2894Y +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2054321	NM_001378457.1(DMXL2):c.8740C>G (p.Leu2914Val)	DMXL2 (L2914V +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2983422	NM_001378457.1(DMXL2):c.8730C>T (p.Pro2910=)	DMXL2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2177508	NM_001378457.1(DMXL2):c.8719T>C (p.Leu2907=)	DMXL2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1673461	NM_001378457.1(DMXL2):c.8718A>G (p.Thr2906=)	DMXL2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2645339	NM_001378457.1(DMXL2):c.8701G>A (p.Val2901Ile)	DMXL2 (V2206I +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 807261	NM_001378457.1(DMXL2):c.8701G>C (p.Val2901Leu)	DMXL2 (V2243L +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1428186	NM_001378457.1(DMXL2):c.8697-6T>C	DMXL2	Single nucleotide variant (intron variant)	not provided	GLikely benign

<< First< Prev

Page of 16