SRPK2[gene] - ClinVar

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC111674474, LOC111674475 +2212 more	Copy number gain	See cases	GPathogenic
Select item 57092	GRCh38/hg38 7q22.1-22.3(chr7:101525795-105432462)x3	ALKBH4, ARMC10 +149 more	Copy number gain	See cases	GPathogenic
Select item 57255	GRCh38/hg38 7q22.1-31.1(chr7:101807149-112414850)x1	ALKBH4, ARMC10 +292 more	Copy number loss	See cases	GPathogenic
Select item 148448	GRCh38/hg38 7q22.1-31.31(chr7:102196924-121278641)x1	ALKBH4, ANKRD7 +474 more	Copy number loss	See cases	GPathogenic
Select item 60283	GRCh38/hg38 7q22.1-22.3(chr7:102808199-105701108)x1	ARMC10, ATXN7L1 +86 more	Copy number loss	See cases	GPathogenic
Select item 152078	GRCh38/hg38 7q22.2-22.3(chr7:104434729-106134635)x3	ATXN7L1, CDHR3 +71 more	Copy number gain	See cases	GUncertain significance
Select item 2316137	NM_182692.3(SRPK2):c.2045C>T (p.Pro682Leu)	SRPK2 (P702L +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3170042	NM_182692.3(SRPK2):c.1906A>C (p.Asn636His)	SRPK2 (N673H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305775	NM_182692.3(SRPK2):c.1895G>A (p.Arg632Gln)	SRPK2 (R632Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 749921	NM_182692.3(SRPK2):c.1878A>G (p.Leu626=)	SRPK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3044526	NM_182692.3(SRPK2):c.1746G>A (p.Ala582=)	SRPK2	Single nucleotide variant (synonymous variant)	SRPK2-related disorder	GLikely benign
Select item 3039998	NM_182692.3(SRPK2):c.1743G>A (p.Thr581=)	SRPK2	Single nucleotide variant (synonymous variant)	SRPK2-related disorder	GLikely benign
Select item 2458683	NM_182692.3(SRPK2):c.1742C>T (p.Thr581Met)	SRPK2 (T524M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049529	NM_182692.3(SRPK2):c.1728G>A (p.Ala576=)	SRPK2	Single nucleotide variant (synonymous variant)	SRPK2-related disorder	GLikely benign
Select item 2381023	NM_182692.3(SRPK2):c.1588C>T (p.Arg530Trp)	SRPK2 (R519W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608449	NM_182692.3(SRPK2):c.1538C>T (p.Pro513Leu)	SRPK2 (P513L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392237	NM_182692.3(SRPK2):c.1490C>T (p.Ser497Phe)	SRPK2 (S440F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170041	NM_182692.3(SRPK2):c.1390T>C (p.Phe464Leu)	SRPK2 (F501L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711393	NM_182692.3(SRPK2):c.1350A>G (p.Pro450=)	SRPK2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3170040	NM_182692.3(SRPK2):c.1343A>G (p.Glu448Gly)	SRPK2 (E391G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347958	NM_182692.3(SRPK2):c.1309A>C (p.Thr437Pro)	SRPK2 (T380P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523138	NM_182692.3(SRPK2):c.1251A>C (p.Glu417Asp)	SRPK2 (E454D +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2496382	NM_182692.3(SRPK2):c.1248A>T (p.Glu416Asp)	SRPK2 (E416D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170039	NM_182692.3(SRPK2):c.1236A>T (p.Glu412Asp)	SRPK2 (E355D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362758	NM_182692.3(SRPK2):c.1150A>G (p.Ile384Val)	SRPK2 (I373V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400736	NM_182692.3(SRPK2):c.1145C>A (p.Ala382Glu)	SRPK2 (A371E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 730405	NM_182692.3(SRPK2):c.1125T>C (p.Asp375=)	SRPK2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 782846	NM_182692.3(SRPK2):c.1110T>A (p.Ile370=)	SRPK2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2256300	NM_182692.3(SRPK2):c.1076A>G (p.Gln359Arg)	SRPK2 (Q348R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555085	NM_182692.3(SRPK2):c.1001T>G (p.Val334Gly)	SRPK2 (V334G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170044	NM_182692.3(SRPK2):c.962C>T (p.Ala321Val)	SRPK2 (A310V +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2536090	NM_182692.3(SRPK2):c.928A>G (p.Arg310Gly)	SRPK2 (R253G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347470	NM_182692.3(SRPK2):c.808A>C (p.Lys270Gln)	SRPK2 (K213Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 793443	NM_182692.3(SRPK2):c.531C>T (p.Phe177=)	SRPK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 755256	NM_182692.3(SRPK2):c.515-4C>G	SRPK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 782847	NM_182692.3(SRPK2):c.342G>A (p.Gly114=)	SRPK2	Single nucleotide variant (synonymous variant)	SRPK2-related disorder +1 more	GBenign
Select item 2330518	NM_182692.3(SRPK2):c.341G>A (p.Gly114Glu)	SRPK2 (G103E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170043	NM_182692.3(SRPK2):c.272G>A (p.Arg91Gln)	SRPK2 (R80Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540102	NM_182692.3(SRPK2):c.271C>T (p.Arg91Trp)	SRPK2 (R80W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 152225	GRCh38/hg38 7q22.3(chr7:105185747-105512369)x1	LOC129999076, LOC129999077 +11 more	Copy number loss	See cases	GUncertain significance
Select item 2294379	NM_182692.3(SRPK2):c.219C>G (p.Asp73Glu)	SRPK2 (D110E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 792349	NM_182692.3(SRPK2):c.141T>A (p.Pro47=)	SRPK2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 782848	NM_182692.3(SRPK2):c.75G>A (p.Pro25=)	SRPK2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3040361	NM_182692.3(SRPK2):c.45G>A (p.Arg15=)	SRPK2 (G20D)	Single nucleotide variant (5 prime UTR variant +2 more)	SRPK2-related disorder	GLikely benign
Select item 3033841	NM_001350740.2(SRPK2):c.95C>T (p.Ala32Val)	LOC129999085, SRPK2 (A32V)	Single nucleotide variant (missense variant +1 more)	SRPK2-related disorder	GBenign
Select item 2685261	GRCh37/hg19 7q22.3(chr7:104872997-104938669)x1	SRPK2	Copy number loss	not provided	GUncertain significance
Select item 2685260	GRCh37/hg19 7q22.3-31.1(chr7:104536649-109624996)x1	ATXN7L1, BCAP29 +26 more	Copy number loss	not provided	GPathogenic
Select item 2684501	GRCh37/hg19 7q22.3(chr7:104787325-105267284)x3	ATXN7L1, PUS7 +2 more	Copy number gain	not provided	GUncertain significance
Select item 2684500	GRCh37/hg19 7q22.3(chr7:104588862-105049659)x3	KMT2E, SRPK2	Copy number gain	not provided	GUncertain significance
Select item 2427609	NC_000007.13:g.(?_102937907)_(107643330_?)dup	ATXN7L1, BCAP29 +26 more	Duplication	not provided	GUncertain significance
Select item 2424385	NC_000007.13:g.(?_104456677)_(108155935_?)del	COG5, DLD +23 more	Deletion	not provided	GPathogenic
Select item 1808606	GRCh37/hg19 7q22.2-22.3(chr7:104497480-105121286)x1	KMT2E, LHFPL3 +2 more	Copy number loss	not provided	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527380	GRCh37/hg19 7q22.1-31.31(chr7:100676872-119156160)	ALKBH4, ANKRD7 +95 more	Copy number loss	not specified	GPathogenic
Select item 1527379	GRCh37/hg19 7q22.1-31.1(chr7:99417471-111586308)	ACHE, ACTL6B +123 more	Copy number loss	not specified	GPathogenic
Select item 1098306	GRCh37/hg19 7q22.3(chr7:104730300-104791108)	KMT2E, SRPK2	Copy number loss	O'Donnell-Luria-Rodan syndrome	GPathogenic
Select item 1098305	GRCh37/hg19 7q22.3(chr7:104696686-105407628)	ATXN7L1, KMT2E +3 more	Copy number loss	O'Donnell-Luria-Rodan syndrome	GPathogenic
Select item 805920	GRCh37/hg19 7q22.3-31.1(chr7:104506008-107408857)	DUS4L, GPR22 +18 more	Copy number loss	See cases	GPathogenic
Select item 805919	GRCh37/hg19 7q22.1-22.3(chr7:103679146-105547471)	ATXN7L1, KMT2E +5 more	Copy number loss	See cases	GLikely pathogenic
Select item 805917	GRCh37/hg19 7q22.1-22.3(chr7:103354482-105407628)	PUS7, ATXN7L1 +6 more	Copy number loss	See cases	GLikely pathogenic
Select item 689132	GRCh37/hg19 7q22.3(chr7:104938668-105027246)x1	SRPK2	Copy number loss	not provided	GUncertain significance
Select item 688674	GRCh37/hg19 7q22.3(chr7:104735674-105116429)x3	KMT2E, PUS7 +1 more	Copy number gain	not provided	GUncertain significance
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 686142	GRCh37/hg19 7q22.3(chr7:104872996-105198975)x3	PUS7, RINT1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 685945	GRCh37/hg19 7q22.3(chr7:104958494-105170653)x3	PUS7, SRPK2	Copy number gain	not provided	GUncertain significance
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 563407	GRCh37/hg19 7q22.1-22.3(chr7:102910570-105104800)x1	SRPK2, PUS7 +8 more	Copy number loss	not provided	GLikely pathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 394301	GRCh37/hg19 7q22.3(chr7:104765173-104826194)x1	SRPK2	Copy number loss	See cases	GLikely benign
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

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Items: 74