MIR1225[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic
Select item 58595	GRCh38/hg38 16p13.3(chr16:29941-2560460)x3	ABCA3, AMDHD2 +356 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	EEF2KMT, ELOB +917 more	Copy number gain	See cases	GPathogenic
Select item 147509	GRCh38/hg38 16p13.3(chr16:46766-4247185)x3	LOC125146383, LOC125146384 +556 more	Copy number gain	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	ABAT, ABCA3 +843 more	Copy number gain	See cases	GPathogenic
Select item 58597	GRCh38/hg38 16p13.3(chr16:46766-3214623)x3	ARHGDIG, ATP6V0C +482 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	ABAT, ABCA3 +926 more	Copy number gain	See cases	GPathogenic
Select item 58600	GRCh38/hg38 16p13.3(chr16:1221651-2233773)x3	BAIAP3, BRICD5 +162 more	Copy number gain	See cases	GPathogenic
Select item 146395	GRCh38/hg38 16p13.3(chr16:1850978-2116369)x3	GFER, HS3ST6 +44 more	Copy number gain	See cases	GUncertain significance
Select item 978603	NC_000016.10:g.1851807_2093151del	GFER, HS3ST6 +43 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 1696839	NC_000016.10:g.1903155_2093402del	GFER, HS3ST6 +40 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 1696837	NC_000016.10:g.2047157_2220112del	BRICD5, CASKIN1 +28 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 646381	NC_000016.10:g.(?_2048596)_(2119398_?)del	PKD1-AS1, MIR1225 +3 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 584071	NC_000016.10:g.(?_2048596)_(2106697_?)del	MIR1225, MIR6511B1 +3 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 584353	NC_000016.10:g.(?_2053322)_(2092208_?)del	MIR1225, PKD1 +2 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 584259	NC_000016.10:g.(?_2055382)_(2119398_?)del	MIR1225, MIR6511B1 +3 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 1696838	NC_000016.10:g.2066081_2241220del	BRICD5, CASKIN1 +33 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 495325	NC_000016.10:g.2077605_2284389dup	ABCA3, BRICD5 +44 more	Duplication	Endometrial carcinoma	GUncertain significance
Select item 583474	NC_000016.10:g.(?_2079012)_(2092208_?)del	MIR1225, PKD1 +2 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 650711	NC_000016.10:g.(?_2081575)_(2104662_?)del	MIR1225, PKD1 +2 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 151642	GRCh38/hg38 16p13.3(chr16:2084201-2092088)x3	MIR1225, PKD1 +2 more	Copy number gain	See cases	GUncertain significance
Select item 536115	NC_000016.10:g.(?_2086173)_(2112493_?)del	MIR1225, MIR6511B1 +3 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 58227	GRCh38/hg38 16p13.3(chr16:2089462-2092132)x1	MIR1225, PKD1 +2 more	Copy number loss	See cases	GLikely pathogenic
Select item 58246	GRCh38/hg38 16p13.3(chr16:2089647-2096105)x1	MIR1225, PKD1 +1 more	Copy number loss	See cases	GLikely pathogenic
Select item 3383079	NM_001009944.3(PKD1):c.12445-1G>C	MIR1225, PKD1	Single nucleotide variant (non-coding transcript variant +1 more)	Polycystic kidney disease, adult type	GLikely pathogenic
Select item 3376911	NM_001009944.3(PKD1):c.12445-1G>T	MIR1225, PKD1	Single nucleotide variant (non-coding transcript variant +1 more)	Polycystic kidney disease, adult type	GPathogenic
Select item 562277	NM_001009944.3(PKD1):c.12445-2A>T	MIR1225, PKD1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 434008	NM_001009944.3(PKD1):c.12445-2A>C	MIR1225, PKD1	Single nucleotide variant (non-coding transcript variant +1 more)	Polycystic kidney disease	GPathogenic
Select item 1678551	NM_001009944.3(PKD1):c.12445-17_12445-3del	MIR1225, PKD1	Deletion (non-coding transcript variant +1 more)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3049740	NM_001009944.3(PKD1):c.12445-18C>T	MIR1225, PKD1	Single nucleotide variant (non-coding transcript variant +1 more)	PKD1-related disorder	GLikely benign
Select item 3355578	NM_001009944.3(PKD1):c.12445-22T>A	MIR1225, PKD1	Single nucleotide variant (non-coding transcript variant +1 more)	PKD1-related disorder	GLikely benign
Select item 3036006	NM_001009944.3(PKD1):c.12445-30G>A	MIR1225, PKD1	Single nucleotide variant (non-coding transcript variant +1 more)	PKD1-related disorder	GLikely benign
Select item 976801	NM_001009944.3(PKD1):c.12444+17dup	MIR1225, PKD1	Duplication (non-coding transcript variant +1 more)	Autosomal dominant polycystic kidney disease +1 more	GBenign
Select item 256920	NM_001009944.3(PKD1):c.12444+15G>C	MIR1225, PKD1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 975069	NM_001009944.3(PKD1):c.12444+1G>A	MIR1225, PKD1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GPathogenic
Select item 3340486	NM_001009944.3(PKD1):c.11693_11702dup (p.Leu3902fs)	MIR1225, PKD1 +2 more (L3901fs +1 more)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335929	NM_001009944.3(PKD1):c.11412-2A>G	MIR1225, PKD1 +2 more	Single nucleotide variant (splice acceptor variant)	Polycystic kidney disease, adult type	GLikely pathogenic
Select item 636966	NM_001009944.3(PKD1):c.11249G>A (p.Arg3750Gln)	MIR1225, PKD1 +2 more (R3750Q +1 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type +2 more	GConflicting classifications of pathogenicity
Select item 3366483	NC_000016.9:g.(?_2138708)_(2150568_2152061)del	MIR1225, PKD1 +1 more	Deletion	Polycystic kidney disease, adult type	GPathogenic
Select item 3243525	NC_000016.9:g.(?_1822222)_(2550959_?)dup	ABCA3, BRICD5 +39 more	Duplication	Caused by mutation in the TBC1 domain family, member 24 +2 more	GUncertain significance
Select item 3243484	NC_000016.9:g.(?_2106736)_(2190778_?)del	MIR1225, PKD1 +1 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 3243475	NC_000016.9:g.(?_2138557)_(2150745_?)del	MIR1225, PKD1 +1 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 3243469	NC_000016.9:g.(?_2100391)_(2143097_?)dup	MIR1225, PKD1 +1 more	Duplication	Tuberous sclerosis 2	GUncertain significance
Select item 3243467	NC_000016.9:g.(?_2112488)_(2143097_?)dup	MIR1225, PKD1 +1 more	Duplication	Tuberous sclerosis 2	GUncertain significance
Select item 3243458	NC_000016.9:g.(?_2104449)_(2286921_?)del	BRICD5, CASKIN1 +9 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 3243454	NC_000016.9:g.(?_2137854)_(2143097_?)del	MIR1225, PKD1 +1 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 3243450	NC_000016.9:g.(?_2113445)_(2173972_?)del	MIR1225, PKD1 +1 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 3243222	NC_000016.9:g.(?_339420)_(3767509_?)dup	ABCA3, AMDHD2 +142 more	Duplication	Idiopathic generalized epilepsy +2 more	GUncertain significance
Select item 3063473	GRCh37/hg19 16p13.3(chr16:2130809-2285561)x1	BRICD5, CASKIN1 +8 more	Copy number loss	not specified	GPathogenic
Select item 3063450	GRCh37/hg19 16p13.3(chr16:2071822-2155562)x1	MIR1225, NHERF2 +3 more	Copy number loss	not specified	GPathogenic
Select item 2685539	GRCh37/hg19 16p13.3(chr16:2106895-2143152)x1	MIR1225, PKD1 +1 more	Copy number loss	not provided	GPathogenic
Select item 2684772	GRCh37/hg19 16p13.3(chr16:1054247-2592737)x3	ABCA3, AMDHD2 +66 more	Copy number gain	not provided	GLikely pathogenic
Select item 2425037	NC_000016.9:g.(?_256302)_(4852572_?)dup	TIGD7, TMEM204 +170 more	Duplication	Idiopathic generalized epilepsy +3 more	GUncertain significance
Select item 2423309	NC_000016.9:g.(?_2034220)_(2152787_?)del	MIR1225, NHERF2 +7 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 2423300	NC_000016.9:g.(?_2124191)_(2143097_?)dup	MIR1225, PKD1 +1 more	Duplication	Tuberous sclerosis 2	GUncertain significance
Select item 2423293	NC_000016.9:g.(?_2106177)_(2142622_?)del	MIR1225, PKD1 +1 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 2423291	NC_000016.9:g.(?_2135211)_(2142622_?)del	MIR1225, PKD1 +1 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 2423289	NC_000016.9:g.(?_2125780)_(2152787_?)del	MIR1225, PKD1 +1 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 1809088	GRCh37/hg19 16p13.3(chr16:2106895-2227470)x1	CASKIN1, MIR1225 +4 more	Copy number loss	not provided	GLikely pathogenic
Select item 1808520	GRCh37/hg19 16p13.3(chr16:1942430-2653144)x3	ABCA3, AMDHD2 +35 more	Copy number gain	not provided	GUncertain significance
Select item 1808105	GRCh37/hg19 16p13.3(chr16:2021144-2146432)x1	GFER, MIR1225 +9 more	Copy number loss	not provided	GPathogenic
Select item 1807728	GRCh37/hg19 16p13.3(chr16:2021144-2266791)x1	BRICD5, CASKIN1 +15 more	Copy number loss	not provided	GPathogenic
Select item 1710928	GRCh37/hg19 16p13.3(chr16:111043-6627459)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 1526483	GRCh37/hg19 16p13.3(chr16:1847662-2653144)	ABCA3, AMDHD2 +38 more	Copy number gain	not specified	GUncertain significance
Select item 1449380	NC_000016.9:g.(?_2121501)_(2143097_?)dup	MIR1225, PKD1 +1 more	Duplication	Tuberous sclerosis 2	GUncertain significance
Select item 1410659	NC_000016.9:g.(?_2096119)_(2143097_?)dup	MIR1225, NTHL1 +2 more	Duplication	not provided	GUncertain significance
Select item 1409857	NC_000016.9:g.(?_2136184)_(2143097_?)dup	MIR1225, PKD1 +1 more	Duplication	Tuberous sclerosis 2	GUncertain significance
Select item 1340286	GRCh37/hg19 16p13.3(chr16:1830141-2592737)x3	ABCA3, AMDHD2 +41 more	Copy number gain	not provided	GUncertain significance
Select item 1180508	GRCh37/hg19 16p13.3(chr16:84485-5251013)x3	JPT2, KCTD5 +188 more	Copy number gain	not provided	GPathogenic
Select item 1179116	GRCh37/hg19 16p13.3(chr16:2089795-2185919)	MIR1225, NTHL1 +2 more	Copy number loss	Polycystic kidney disease, adult type	GPathogenic
Select item 1069475	NC_000016.9:g.(?_2103323)_(2185710_?)del	MIR1225, PKD1 +1 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 1019531	NC_000016.9:g.(?_2114263)_(2141185_?)dup	MIR1225, PKD1 +1 more	Duplication	Tuberous sclerosis 2	GUncertain significance
Select item 1019529	NC_000016.10:g.(?_2039924)_(2093096_?)dup	MIR1225, NTHL1 +2 more	Duplication	Tuberous sclerosis 2	GUncertain significance
Select item 1017417	NC_000016.9:g.(?_624055)_(2153916_?)dup	CCDC78, ANTKMT +71 more	Duplication	Epilepsy +2 more	GUncertain significance
Select item 1010653	NC_000016.9:g.(?_2098597)_(2550979_?)dup	CCNF, DNASE1L2 +16 more	Duplication	Caused by mutation in the TBC1 domain family, member 24 +2 more	GUncertain significance
Select item 980582	GRCh37/hg19 16p13.3(chr16:2011148-2161281)x3	GFER, MIR1225 +13 more	Copy number gain	not provided	GUncertain significance
Select item 980573	GRCh37/hg19 16p13.3(chr16:85880-5249457)x3	ABCA3, ADCY9 +188 more	Copy number gain	not provided	GPathogenic
Select item 833476	NC_000016.10:g.(?_2048596)_(2098004_?)del	MIR1225, PKD1 +1 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 833445	NC_000016.9:g.(?_1203718)_(2185710_?)del	EME2, FAHD1 +45 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 833386	NC_000016.10:g.(?_2048596)_(2111891_?)del	MIR1225, PKD1 +1 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 833344	NC_000016.9:g.(?_624055)_(2550979_?)dup	IGFALS, MRPS34 +86 more	Duplication	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 833245	NC_000016.10:g.(?_2048596)_(2135709_?)del	MIR1225, PKD1 +1 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 832874	NC_000016.10:g.(?_2065509)_(2093096_?)dup	MIR1225, PKD1 +1 more	Duplication	Tuberous sclerosis 2	GUncertain significance
Select item 832709	NC_000016.9:g.(?_624055)_(2148005_?)del	CCDC78, CHTF18 +71 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 832357	NC_000016.10:g.(?_2058737)_(2093096_?)del	MIR1225, PKD1 +1 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 832211	NC_000016.10:g.(?_2072829)_(2119398_?)del	MIR1225, PKD1 +1 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 831624	NC_000016.10:g.(?_2039924)_(2093096_?)del	MIR1225, NTHL1 +2 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 685170	GRCh37/hg19 16p13.3(chr16:2070917-2592737)x3	ABCA3, AMDHD2 +22 more	Copy number gain	not provided	GUncertain significance
Select item 625723	GRCh37/hg19 16p13.3(chr16:109978-4316797)	ABCA3, ADCY9 +159 more	Copy number gain	Chromosome 16p13.3 duplication syndrome	GPathogenic
Select item 564257	GRCh37/hg19 16p13.3(chr16:1734363-2285561)x1	BRICD5, CASKIN1 +34 more	Copy number loss	not provided	GPathogenic
Select item 564256	GRCh37/hg19 16p13.3(chr16:1505184-4415346)x3	ABCA3, ADCY9 +103 more	Copy number gain	not provided	GPathogenic
Select item 564254	GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3	ABAT, ABCA3 +206 more	Copy number gain	not provided	GPathogenic
Select item 564253	GRCh37/hg19 16p13.3(chr16:85880-3216551)x3	ABCA3, AMDHD2 +139 more	Copy number gain	not provided	GPathogenic
Select item 560100	Single allele	DNASE1L2, E4F1 +16 more	Duplication	not provided	GUncertain significance
Select item 467836	NC_000016.9:g.(?_2098597)_(2150587_?)del	MIR1225, PKD1 +1 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 443477	GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3	ABAT, ABCA3 +198 more	Copy number gain	See cases	GPathogenic
Select item 443183	GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3	ABAT, ABCA3 +295 more	Copy number gain	See cases	GPathogenic
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442872	GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3	PRSS27, PRSS33 +263 more	Copy number gain	See cases	GPathogenic

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