ClinVar for Gene (Select 285955) - ClinVar

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Links from Gene

Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3448245	NM_001378423.2(SPDYE1):c.949C>T (p.Arg317Cys)	SPDYE1 (R277C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3448244	NM_001378423.2(SPDYE1):c.1087C>T (p.Pro363Ser)	SPDYE1 (P323S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3448243	NM_001378423.2(SPDYE1):c.947G>A (p.Arg316His)	SPDYE1 (R276H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3448242	NM_001378423.2(SPDYE1):c.701G>A (p.Arg234Gln)	SPDYE1 (R234Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322063	NM_001378423.2(SPDYE1):c.268C>A (p.Pro90Thr)	SPDYE1 (P90T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322062	NM_001378423.2(SPDYE1):c.769A>G (p.Met257Val)	SPDYE1 (M217V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322061	NM_001378423.2(SPDYE1):c.860G>A (p.Arg287Gln)	SPDYE1 (R247Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322060	NM_001378423.2(SPDYE1):c.839T>C (p.Ile280Thr)	SPDYE1 (I240T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322059	NM_001378423.2(SPDYE1):c.1117G>A (p.Ala373Thr)	SPDYE1 (A373T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322058	NM_001378423.2(SPDYE1):c.187T>C (p.Cys63Arg)	SPDYE1 (C23R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322057	NM_001378423.2(SPDYE1):c.935G>A (p.Arg312Gln)	SPDYE1 (R312Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245902	NC_000007.13:g.(?_43810758)_(45977174_?)del	ADCY1, AEBP1 +31 more	Deletion	not provided	GUncertain significance
Select item 3168754	NM_001378423.2(SPDYE1):c.1048G>A (p.Val350Ile)	SPDYE1 (V310I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168753	NM_001378423.2(SPDYE1):c.1006C>T (p.Arg336Cys)	SPDYE1 (R336C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168752	NM_001378423.2(SPDYE1):c.937T>A (p.Phe313Ile)	SPDYE1 (F313I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168750	NM_001378423.2(SPDYE1):c.914T>C (p.Ile305Thr)	SPDYE1 (I305T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168749	NM_001378423.2(SPDYE1):c.913A>G (p.Ile305Val)	SPDYE1 (I265V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168748	NM_001378423.2(SPDYE1):c.874C>G (p.Arg292Gly)	SPDYE1 (R292G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168747	NM_001378423.2(SPDYE1):c.846G>C (p.Leu282Phe)	SPDYE1 (L242F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168746	NM_001378423.2(SPDYE1):c.830G>A (p.Arg277His)	SPDYE1 (R237H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168745	NM_001378423.2(SPDYE1):c.701G>T (p.Arg234Leu)	SPDYE1 (R194L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168744	NM_001378423.2(SPDYE1):c.176C>A (p.Pro59His)	SPDYE1 (P19H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168743	NM_001378423.2(SPDYE1):c.676G>C (p.Ala226Pro)	SPDYE1 (A226P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168742	NM_001378423.2(SPDYE1):c.419G>A (p.Cys140Tyr)	SPDYE1 (C100Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168741	NM_001378423.2(SPDYE1):c.341T>C (p.Ile114Thr)	SPDYE1 (I74T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685239	GRCh37/hg19 7p14.1-12.3(chr7:42516660-46202495)x1	ADCY1, AEBP1 +38 more	Copy number loss	not provided	GPathogenic
Select item 2622340	NM_001378423.2(SPDYE1):c.448A>G (p.Lys150Glu)	SPDYE1 (K110E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616909	NM_001378423.2(SPDYE1):c.245C>G (p.Pro82Arg)	SPDYE1 (P82R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608704	NM_001378423.2(SPDYE1):c.1009C>T (p.Arg337Trp)	SPDYE1 (R297W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593540	NM_001378423.2(SPDYE1):c.979C>T (p.Arg327Cys)	SPDYE1 (R327C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2562290	NM_001378423.2(SPDYE1):c.590C>T (p.Ala197Val)	SPDYE1 (A197V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546096	NM_001378423.2(SPDYE1):c.386G>A (p.Gly129Glu)	SPDYE1 (G129E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531395	NM_001378423.2(SPDYE1):c.586G>A (p.Glu196Lys)	SPDYE1 (E156K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514630	NM_001378423.2(SPDYE1):c.476G>C (p.Arg159Pro)	SPDYE1 (R119P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507712	NM_001378423.2(SPDYE1):c.554G>A (p.Arg185Gln)	SPDYE1 (R185Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507711	NM_001378423.2(SPDYE1):c.551G>A (p.Arg184Gln)	SPDYE1 (R144Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507459	NM_001378423.2(SPDYE1):c.859C>T (p.Arg287Trp)	SPDYE1 (R247W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487353	NM_001378423.2(SPDYE1):c.382C>G (p.Pro128Ala)	SPDYE1 (P128A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461287	NM_001378423.2(SPDYE1):c.734T>G (p.Leu245Arg)	SPDYE1 (L205R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2423978	NC_000007.13:g.(?_43810758)_(44747598_?)del	AEBP1, BLVRA +17 more	Deletion	not provided	GUncertain significance
Select item 2404161	NM_001378423.2(SPDYE1):c.950G>A (p.Arg317His)	SPDYE1 (R277H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388631	NM_001378423.2(SPDYE1):c.925C>T (p.Arg309Cys)	SPDYE1 (R269C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382398	NM_001378423.2(SPDYE1):c.874C>T (p.Arg292Cys)	SPDYE1 (R252C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379267	NM_001378423.2(SPDYE1):c.875G>A (p.Arg292His)	SPDYE1 (R292H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365583	NM_001378423.2(SPDYE1):c.241G>A (p.Glu81Lys)	SPDYE1 (E41K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362803	NM_001378423.2(SPDYE1):c.1022T>C (p.Phe341Ser)	SPDYE1 (F301S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362569	NM_001378423.2(SPDYE1):c.1115G>A (p.Arg372His)	SPDYE1 (R332H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354461	NM_001378423.2(SPDYE1):c.506T>C (p.Ile169Thr)	SPDYE1 (I129T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353226	NM_001378423.2(SPDYE1):c.926G>A (p.Arg309His)	SPDYE1 (R309H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350400	NM_001378423.2(SPDYE1):c.1104G>C (p.Trp368Cys)	SPDYE1 (W328C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348526	NM_001378423.2(SPDYE1):c.871T>C (p.Tyr291His)	SPDYE1 (Y251H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342534	NM_001378423.2(SPDYE1):c.1121G>A (p.Arg374His)	SPDYE1 (R334H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337570	NM_001378423.2(SPDYE1):c.1120C>T (p.Arg374Cys)	SPDYE1 (R374C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301589	NM_001378423.2(SPDYE1):c.761C>G (p.Ala254Gly)	SPDYE1 (A214G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234170	NM_001378423.2(SPDYE1):c.460T>G (p.Ser154Ala)	SPDYE1 (S114A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214545	NM_001378423.2(SPDYE1):c.857G>A (p.Arg286His)	SPDYE1 (R286H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212810	NM_001378423.2(SPDYE1):c.1028C>T (p.Ser343Phe)	SPDYE1 (S303F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1527356	GRCh37/hg19 7p14.1-12.2(chr7:40778439-50228656)	ABCA13, ADCY1 +53 more	Copy number loss	not specified	GPathogenic
Select item 1047889	GRCh37/hg19 7p13-12.2(chr7:43341583-50171623)	MRPS24, MYL7 +46 more	Copy number loss	Intracranial hemorrhage	GPathogenic
Select item 1047885	GRCh37/hg19 7p14.1-12.3(chr7:41124364-47945566)	ADCY1, AEBP1 +44 more	Copy number loss	Neurodevelopmental delay +2 more	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 493558	GRCh37/hg19 7p13(chr7:43884184-44297732)x3	AEBP1, CAMK2B +11 more	Copy number gain	not provided	GLikely benign
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 441541	GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3	RP9, SCIN +196 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 395336	GRCh37/hg19 7p14.3-13(chr7:32911003-44576005)x1	AEBP1, AMPH +54 more	Copy number loss	See cases	GPathogenic
Select item 394005	GRCh37/hg19 7p14.1-12.3(chr7:40350383-47034422)x1	ZMIZ2, ADCY1 +41 more	Copy number loss	See cases	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	SNORA5C, SNX10 +504 more	Inversion	Childhood apraxia of speech	GPathogenic
Select item 154192	GRCh38/hg38 7p14.1-13(chr7:38177999-45304100)x1	AEBP1, AMPH +288 more	Copy number loss	See cases	GPathogenic
Select item 148230	GRCh38/hg38 7p14.1-13(chr7:39063400-45363096)x1	LOC129998373, LOC129998374 +231 more	Copy number loss	See cases	GPathogenic
Select item 148053	GRCh38/hg38 7p14.1-12.3(chr7:37303478-48660738)x1	LOC121175342, LOC121740678 +380 more	Copy number loss	See cases	GPathogenic
Select item 147754	GRCh38/hg38 7p14.1-12.1(chr7:40020598-50543500)x1	ABCA13, ADCY1 +317 more	Copy number loss	See cases	GPathogenic
Select item 146855	GRCh38/hg38 7p14.1-11.2(chr7:40534157-56107122)x1	ABCA13, ADCY1 +426 more	Copy number loss	See cases	GPathogenic
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 59680	GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3	LOC129389795, LOC129389796 +636 more	Copy number gain	See cases	GPathogenic
Select item 59304	GRCh38/hg38 7p14.1-12.3(chr7:39814159-45749735)x1	SNORA5A, SNORA5B +212 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 79