MRNIP[gene] - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995440, LOC129995441 +864 more	Copy number gain	See cases	GPathogenic
Select item 146233	GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3	ADAMTS2, ARL10 +676 more	Copy number gain	See cases	GPathogenic
Select item 152731	GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3	LOC129995246, LOC129995247 +622 more	Copy number gain	See cases	GPathogenic
Select item 153687	GRCh38/hg38 5q35.2-35.3(chr5:175536771-181292788)x1	LOC129995359, LOC129995360 +386 more	Copy number loss	See cases	GPathogenic
Select item 58123	GRCh38/hg38 5q35.2-35.3(chr5:175889986-180793986)x3	ADAMTS2, ARL10 +292 more	Copy number gain	See cases	GPathogenic
Select item 154581	GRCh38/hg38 5q35.2-35.3(chr5:176700128-181269805)x1	ADAMTS2, B4GALT7 +325 more	Copy number loss	See cases	GPathogenic
Select item 154193	GRCh38/hg38 5q35.3(chr5:178235909-181292788)x3	ADAMTS2, BTNL3 +207 more	Copy number gain	See cases	GLikely pathogenic
Select item 57495	GRCh38/hg38 5q35.3(chr5:178529878-181269805)x3	ADAMTS2, BTNL3 +203 more	Copy number gain	See cases	GUncertain significance
Select item 145959	GRCh38/hg38 5q35.3(chr5:179669736-180897169)x1	CANX, CBY3 +85 more	Copy number loss	See cases	GLikely pathogenic
Select item 906446	NM_003900.5(SQSTM1):c.*710G>C	SQSTM1, MRNIP	Single nucleotide variant (3 prime UTR variant)	Paget disease of bone 3 +1 more	GUncertain significance
Select item 906447	NM_003900.5(SQSTM1):c.*722T>C	SQSTM1, MRNIP	Single nucleotide variant (3 prime UTR variant)	Paget disease of bone 3	GUncertain significance
Select item 353177	NM_003900.5(SQSTM1):c.725_728dup	MRNIP, SQSTM1	Duplication (3 prime UTR variant)	Bone Paget disease +1 more	GUncertain significance
Select item 906448	NM_003900.5(SQSTM1):c.*786G>A	MRNIP, SQSTM1	Single nucleotide variant (3 prime UTR variant)	Paget disease of bone 3	GLikely benign
Select item 353178	NM_016175.4(MRNIP):c.993C>T (p.Asp331=)	SQSTM1, MRNIP	Single nucleotide variant (synonymous variant +1 more)	Paget disease of bone 3 +1 more	GConflicting classifications of pathogenicity
Select item 931366	NM_016175.4(MRNIP):c.937G>T (p.Glu313Ter)	MRNIP, SQSTM1 (E313* +1 more)	Single nucleotide variant (nonsense +1 more)	Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset	GUncertain significance
Select item 3251275	NM_003900.5(SQSTM1):c.*986C>T	MRNIP, SQSTM1 (A227T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 353179	NM_016175.4(MRNIP):c.843C>T (p.Ala281=)	MRNIP, SQSTM1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 353180	NM_016175.4(MRNIP):c.729C>T (p.Asp243=)	MRNIP, SQSTM1	Single nucleotide variant (synonymous variant +1 more)	Paget disease of bone 3 +1 more	GBenign/Likely benign
Select item 353181	NM_003900.5(SQSTM1):c.*1111G>C	MRNIP, SQSTM1 (S185* +1 more)	Single nucleotide variant (nonsense +1 more)	Paget disease of bone 3	GLikely benign
Select item 353182	NM_003900.5(SQSTM1):c.*1138T>C	MRNIP, SQSTM1 (Q231R +1 more)	Single nucleotide variant (missense variant +1 more)	Paget disease of bone 3	GBenign
Select item 2656138	NM_016175.4(MRNIP):c.690G>A (p.Ala230=)	MRNIP, SQSTM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 907441	NM_003900.5(SQSTM1):c.*1141G>A	MRNIP, SQSTM1 (A230V +1 more)	Single nucleotide variant (missense variant +1 more)	Paget disease of bone 3	GUncertain significance
Select item 353183	NM_016175.4(MRNIP):c.625A>G (p.Arg209Gly)	MRNIP, SQSTM1 (R154G +1 more)	Single nucleotide variant (missense variant +1 more)	Paget disease of bone 3 +1 more	GUncertain significance
Select item 353184	NM_003900.5(SQSTM1):c.*1235T>C	MRNIP, SQSTM1 (N199D +1 more)	Single nucleotide variant (missense variant +1 more)	Paget disease of bone 3	GUncertain significance
Select item 907442	NM_003900.5(SQSTM1):c.*1273C>T	MRNIP, SQSTM1 (W131* +1 more)	Single nucleotide variant (nonsense +1 more)	Paget disease of bone 3	GUncertain significance
Select item 353185	NM_003900.5(SQSTM1):c.*1299GA[1]	MRNIP, SQSTM1	Microsatellite (3 prime UTR variant +1 more)	Bone Paget disease	GUncertain significance
Select item 353186	NM_003900.5(SQSTM1):c.*1322G>T	MRNIP, SQSTM1	Single nucleotide variant (3 prime UTR variant +1 more)	Paget disease of bone 3	GBenign
Select item 353187	NM_003900.5(SQSTM1):c.*1336C>T	MRNIP, SQSTM1	Single nucleotide variant (3 prime UTR variant +1 more)	Paget disease of bone 3	GUncertain significance
Select item 904121	NM_003900.5(SQSTM1):c.*1353C>T	MRNIP, SQSTM1	Single nucleotide variant (3 prime UTR variant +1 more)	Paget disease of bone 3	GUncertain significance
Select item 904122	NM_003900.5(SQSTM1):c.*1394C>T	SQSTM1, MRNIP	Single nucleotide variant (3 prime UTR variant +1 more)	Paget disease of bone 3	GUncertain significance
Select item 353188	NM_003900.5(SQSTM1):c.*1480C>T	MRNIP, SQSTM1	Single nucleotide variant (3 prime UTR variant +1 more)	Paget disease of bone 3	GUncertain significance
Select item 2656139	NM_016175.4(MRNIP):c.339G>A (p.Lys113=)	MRNIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3205024	NM_016175.4(MRNIP):c.316C>T (p.Arg106Cys)	MRNIP (R51C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656140	NM_016175.4(MRNIP):c.112C>T (p.Gln38Ter)	MRNIP (Q38*)	Single nucleotide variant (nonsense)	not provided	GLikely benign
Select item 3062874	GRCh37/hg19 5q35.3(chr5:178974997-179632637)x3	C5orf60, CANX +11 more	Copy number gain	not specified	GUncertain significance
Select item 3062850	GRCh37/hg19 5q35.3(chr5:177944162-180183615)x3	ADAMTS2, C5orf60 +27 more	Copy number gain	not specified	GUncertain significance
Select item 3062813	GRCh37/hg19 5q35.3(chr5:177944162-180198875)x3	ZNF354A, ZNF354B +27 more	Copy number gain	not specified	GPathogenic
Select item 2684437	GRCh37/hg19 5q35.3(chr5:178991938-179400807)x3	C5orf60, CANX +10 more	Copy number gain	not provided	GUncertain significance
Select item 2684436	GRCh37/hg19 5q35.3(chr5:178581633-180719789)x3	ADAMTS2, BTNL3 +34 more	Copy number gain	not provided	GUncertain significance
Select item 1809328	GRCh37/hg19 5q35.3(chr5:177746012-179975280)x3	ADAMTS2, C5orf60 +24 more	Copy number gain	not provided	GUncertain significance
Select item 1809056	GRCh37/hg19 5q35.3(chr5:178947702-179645244)x3	C5orf60, CANX +11 more	Copy number gain	not provided	GUncertain significance
Select item 1711097	GRCh37/hg19 5q35.1-35.3(chr5:170350336-180719789)x3	ADAMTS2, ARL10 +117 more	Copy number gain	See cases	GPathogenic
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 1527211	GRCh37/hg19 5q35.3(chr5:179217944-179694141)	LTC4S, MAPK9 +6 more	Copy number gain	not specified	GUncertain significance
Select item 1527210	GRCh37/hg19 5q35.3(chr5:179082801-179409280)	CANX, CBY3 +7 more	Copy number gain	not specified	GUncertain significance
Select item 1527209	GRCh37/hg19 5q35.3(chr5:178860745-179534363)	C5orf60, CANX +11 more	Copy number loss	not specified	GUncertain significance
Select item 1527207	GRCh37/hg19 5q35.3(chr5:177954576-180198875)	ADAMTS2, C5orf60 +27 more	Copy number gain	not specified	GUncertain significance
Select item 981214	GRCh37/hg19 5q35.1-35.3(chr5:170805664-180719789)x3	ADAMTS2, ARL10 +115 more	Copy number gain	5q35 microduplication syndrome	GPathogenic
Select item 814763	GRCh37/hg19 5q35.3(chr5:178487249-180622216)x4	ADAMTS2, BTNL3 +30 more	Copy number gain	not provided	GUncertain significance
Select item 686512	GRCh37/hg19 5q35.3(chr5:176848982-180719789)x3	ADAMTS2, B4GALT7 +59 more	Copy number gain	not provided	GPathogenic
Select item 635776	GRCh37/hg19 5q35.3(chr5:179085554-179524010)x3	MGAT4B, MRNIP +9 more	Copy number gain	Sensorineural hearing loss disorder	GUncertain significance
Select item 626286	Single allele	ADAMTS2, B4GALT7 +80 more	Duplication	not provided	GLikely pathogenic
Select item 625703	GRCh37/hg19 5q35.2-35.3(chr5:174990352-180690937)	ADAMTS2, ARL10 +90 more	Copy number gain	not provided	GPathogenic
Select item 625655	GRCh37/hg19 5q35.3(chr5:177776148-180687012)	ADAMTS2, BTNL3 +43 more	Copy number loss	not provided	GLikely pathogenic
Select item 563136	GRCh37/hg19 5q35.3(chr5:179240909-180035580)x3	GFPT2, SQSTM1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 563135	GRCh37/hg19 5q35.3(chr5:179016558-179409873)x3	CANX, CBY3 +10 more	Copy number gain	not provided	GUncertain significance
Select item 563134	GRCh37/hg19 5q35.3(chr5:178904345-179529124)x3	C5orf60, CANX +11 more	Copy number gain	not provided	GUncertain significance
Select item 563131	GRCh37/hg19 5q35.3(chr5:177114088-180719789)x1	ADAMTS2, BTNL3 +50 more	Copy number loss	not provided	GUncertain significance
Select item 443453	GRCh37/hg19 5q35.3(chr5:177535168-180719789)x3	ADAMTS2, BTNL3 +48 more	Copy number gain	See cases	GUncertain significance
Select item 443005	GRCh37/hg19 5q35.2-35.3(chr5:175570677-180719789)x1	ADAMTS2, ARL10 +86 more	Copy number loss	See cases	GPathogenic
Select item 442855	GRCh37/hg19 5q35.1-35.3(chr5:172031248-180719789)x3	ADAMTS2, ARL10 +106 more	Copy number gain	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 394398	GRCh37/hg19 5q35.3(chr5:179275350-179563401)x3	MRNIP, RASGEF1C +2 more	Copy number gain	See cases	GLikely benign
Select item 187821	GRCh37/hg19 5q35.2-35.3(chr5:174397487-180686444)x1	BTNL9, C5orf60 +92 more	Copy number loss	See cases	GPathogenic

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Items: 67