SPDYE6[gene] - ClinVar

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Items: 33

	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 149050	GRCh38/hg38 7q22.1(chr7:99932610-102473188)x3	ACHE, ACTL6B +283 more	Copy number gain	See cases	GUncertain significance
Select item 60281	GRCh38/hg38 7q22.1(chr7:100419914-102482826)x1	ACHE, ACTL6B +207 more	Copy number loss	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 2562267	NM_001146210.4(SPDYE6):c.956C>T (p.Ser319Phe)	SPDYE6 (S319F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344994	NM_001146210.4(SPDYE6):c.935G>A (p.Arg312His)	SPDYE6 (R312H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595877	NM_001146210.4(SPDYE6):c.780G>C (p.Glu260Asp)	SPDYE6 (E260D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322082	NM_001146210.4(SPDYE6):c.747C>G (p.Phe249Leu)	SPDYE6 (F249L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590839	NM_001146210.4(SPDYE6):c.733C>T (p.Arg245Cys)	SPDYE6 (R245C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344330	NM_001146210.4(SPDYE6):c.666C>G (p.Asp222Glu)	SPDYE6 (D222E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478555	NM_001146210.4(SPDYE6):c.380C>T (p.Ala127Val)	SPDYE6 (A127V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363555	NM_001146210.4(SPDYE6):c.259G>A (p.Ala87Thr)	SPDYE6 (A87T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2206686	NM_001146210.4(SPDYE6):c.215G>T (p.Arg72Met)	SPDYE6 (R72M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391993	NM_001146210.4(SPDYE6):c.199G>T (p.Gly67Cys)	SPDYE6 (G67C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391992	NM_001146210.4(SPDYE6):c.196C>T (p.Leu66Phe)	SPDYE6 (L66F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343406	NM_001146210.4(SPDYE6):c.185C>T (p.Pro62Leu)	SPDYE6 (P62L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062972	GRCh37/hg19 7q22.1(chr7:98396469-102108193)x1	ACHE, ACTL6B +93 more	Copy number loss	not specified	GLikely pathogenic
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 1340289	GRCh37/hg19 7q22.1(chr7:101729998-102114340)x3	ALKBH4, CUX1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 929826	GRCh37/hg19 7q22.1(chr7:99593346-102470275)x1	ACHE, ACTL6B +77 more	Copy number loss	See cases	GLikely pathogenic
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 563415	GRCh37/hg19 7q22.1(chr7:98847725-102472176)x1	CYP3A43, GJC3 +99 more	Copy number loss	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: 33