SYPL1[gene] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 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 152078	GRCh38/hg38 7q22.2-22.3(chr7:104434729-106134635)x3	ATXN7L1, CDHR3 +71 more	Copy number gain	See cases	GUncertain significance
Select item 154561	GRCh38/hg38 7q22.3-31.1(chr7:105575647-107949294)x1	ATXN7L1, BCAP29 +104 more	Copy number loss	See cases	GUncertain significance
Select item 2325188	NM_182715.4(SYPL1):c.694C>G (p.Gln232Glu)	SYPL1 (Q187E +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3324011	NM_182715.4(SYPL1):c.674A>G (p.Asn225Ser)	SYPL1 (N114S +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2513110	NM_182715.4(SYPL1):c.541C>G (p.Leu181Val)	SYPL1 (L225V +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3324010	NM_182715.4(SYPL1):c.518C>T (p.Pro173Leu)	SYPL1 (P62L +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3172929	NM_182715.4(SYPL1):c.385C>T (p.Arg129Cys)	SYPL1 (R155C +4 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3324012	NM_182715.4(SYPL1):c.355G>T (p.Val119Phe)	SYPL1 (V145F +4 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3172928	NM_182715.4(SYPL1):c.326T>C (p.Leu109Pro)	SYPL1 (L127P +4 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3172927	NM_182715.4(SYPL1):c.124A>T (p.Ile42Phe)	SYPL1 (I60F +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 981912	NM_182715.4(SYPL1):c.98G>A (p.Cys33Tyr)	SYPL1 (C29Y +4 more)	Single nucleotide variant (missense variant +2 more)	Intellectual disability	GUncertain significance
Select item 3172931	NM_182715.4(SYPL1):c.37G>A (p.Glu13Lys)	SYPL1 (E13K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2469358	NM_006754.5(SYPL1):c.37A>G (p.Ser13Gly)	SYPL1 (S13G)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2482536	NM_006754.5(SYPL1):c.19T>G (p.Leu7Val)	SYPL1 (L7V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294536	NM_006754.5(SYPL1):c.13A>T (p.Ile5Phe)	SYPL1 (I5F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245840	NC_000007.13:g.(?_102937907)_(108155935_?)del	ATXN7L1, BCAP29 +29 more	Deletion	not provided	GPathogenic
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 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	ATXN7L1, BCAP29 +23 more	Deletion	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 805920	GRCh37/hg19 7q22.3-31.1(chr7:104506008-107408857)	DUS4L, GPR22 +18 more	Copy number loss	See cases	GPathogenic
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 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
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 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: 34