ClinVar for Gene (Select 442590) - ClinVar

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Links from Gene

Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3322081	NM_001306141.4(SPDYE5):c.1053G>T (p.Lys351Asn)	SPDYE5 (K351N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322080	NM_001306141.4(SPDYE5):c.560G>A (p.Arg187Gln)	SPDYE5 (R187Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322079	NM_001306141.4(SPDYE5):c.469G>A (p.Glu157Lys)	SPDYE5 (E157K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322078	NM_001306141.4(SPDYE5):c.566C>T (p.Ser189Leu)	SPDYE5 (S189L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322077	NM_001306141.4(SPDYE5):c.399C>A (p.Ser133Arg)	SPDYE5 (S133R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168791	NM_001306141.4(SPDYE5):c.1114G>A (p.Gly372Ser)	SPDYE5 (G372S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168790	NM_001306141.4(SPDYE5):c.1019A>G (p.Gln340Arg)	SPDYE5 (Q340R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168789	NM_001306141.4(SPDYE5):c.983G>A (p.Arg328His)	SPDYE5 (R328H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168788	NM_001306141.4(SPDYE5):c.860G>A (p.Arg287His)	SPDYE5 (R287H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168787	NM_001306141.4(SPDYE5):c.797A>G (p.Lys266Arg)	SPDYE5 (K266R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168786	NM_001306141.4(SPDYE5):c.730C>G (p.Gln244Glu)	SPDYE5 (Q244E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168785	NM_001306141.4(SPDYE5):c.679G>C (p.Ala227Pro)	SPDYE5 (A227P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168784	NM_001306141.4(SPDYE5):c.496G>A (p.Glu166Lys)	SPDYE5 (E166K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168783	NM_001306141.4(SPDYE5):c.478C>T (p.Arg160Trp)	SPDYE5 (R160W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168782	NM_001306141.4(SPDYE5):c.434T>G (p.Met145Arg)	SPDYE5 (M145R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3168781	NM_001306141.4(SPDYE5):c.392A>T (p.Asp131Val)	SPDYE5 (D131V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062971	GRCh37/hg19 7q11.23(chr7:72732819-76003862)x3	ABHD11, ABHD11-AS1 +43 more	Copy number gain	not specified	GPathogenic
Select item 2657614	NM_001306141.4(SPDYE5):c.909C>A (p.Arg303=)	SPDYE5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657613	NM_001306141.4(SPDYE5):c.147G>T (p.Val49=)	SPDYE5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2596653	NM_001306141.4(SPDYE5):c.1135G>A (p.Glu379Lys)	SPDYE5 (E379K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592749	NM_001306141.4(SPDYE5):c.448G>A (p.Glu150Lys)	SPDYE5 (E150K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551143	NM_001306141.4(SPDYE5):c.830A>C (p.Asn277Thr)	SPDYE5 (N277T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549322	NM_001306141.4(SPDYE5):c.271G>A (p.Glu91Lys)	SPDYE5 (E91K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549071	NM_001306141.4(SPDYE5):c.461C>T (p.Ser154Leu)	SPDYE5 (S154L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527256	NM_001306141.4(SPDYE5):c.673C>T (p.Leu225Phe)	SPDYE5 (L225F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523146	NM_001306141.4(SPDYE5):c.712T>G (p.Phe238Val)	SPDYE5 (F238V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519667	NM_001306141.4(SPDYE5):c.589G>C (p.Glu197Gln)	SPDYE5 (E197Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514733	NM_001306141.4(SPDYE5):c.187T>A (p.Cys63Ser)	SPDYE5 (C63S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509043	NM_001306141.4(SPDYE5):c.554G>A (p.Arg185Gln)	SPDYE5 (R185Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490723	NM_001306141.4(SPDYE5):c.235G>T (p.Ala79Ser)	SPDYE5 (A79S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474512	NM_001306141.4(SPDYE5):c.773T>C (p.Met258Thr)	SPDYE5 (M258T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469987	NM_001306141.4(SPDYE5):c.1012C>G (p.Arg338Gly)	SPDYE5 (R338G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396921	NM_001306141.4(SPDYE5):c.1087C>T (p.Arg363Trp)	SPDYE5 (R363W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394375	NM_001306141.4(SPDYE5):c.1058G>A (p.Arg353His)	SPDYE5 (R353H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377955	NM_001306141.4(SPDYE5):c.161-7T>A	SPDYE5	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2369799	NM_001306141.4(SPDYE5):c.733C>T (p.Arg245Cys)	SPDYE5 (R245C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364151	NM_001306141.4(SPDYE5):c.464T>C (p.Leu155Ser)	SPDYE5 (L155S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357513	NM_001306141.4(SPDYE5):c.965C>T (p.Pro322Leu)	SPDYE5 (P322L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346348	NM_001306141.4(SPDYE5):c.253G>C (p.Glu85Gln)	SPDYE5 (E85Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346347	NM_001306141.4(SPDYE5):c.245C>A (p.Pro82Gln)	SPDYE5 (P82Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296608	NM_001306141.4(SPDYE5):c.1012C>T (p.Arg338Trp)	SPDYE5 (R338W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292023	NM_001306141.4(SPDYE5):c.1004G>A (p.Arg335His)	SPDYE5 (R335H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2235806	NM_001306141.4(SPDYE5):c.431A>T (p.Lys144Met)	SPDYE5 (K144M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223214	NM_001306141.4(SPDYE5):c.1133C>G (p.Pro378Arg)	SPDYE5 (P378R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223016	NM_001306141.4(SPDYE5):c.1130C>T (p.Ser377Phe)	SPDYE5 (S377F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212221	NM_001306141.4(SPDYE5):c.839G>A (p.Arg280His)	SPDYE5 (R280H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807990	GRCh37/hg19 7q11.23(chr7:75091880-75951903)x3	CCL24, CCL26 +10 more	Copy number gain	not provided	GUncertain significance
Select item 1807835	GRCh37/hg19 7q11.23(chr7:75085014-76007380)x1	CCL24, CCL26 +11 more	Copy number loss	not provided	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 1342322	NC_000007.14:g.(75058300_?)_(?_79083658)del	APTR, CCDC146 +126 more	Deletion	Distal 7q11.23 microdeletion syndrome	GPathogenic
Select item 979623	GRCh37/hg19 7q11.23(chr7:75082354-75339659)x1	POM121C, HIP1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 979622	GRCh37/hg19 7q11.23(chr7:72403117-76709600)x1	TBL2, TMEM120A +50 more	Copy number loss	not provided	GPathogenic
Select item 814993	GRCh37/hg19 7q11.23(chr7:74852766-75180093)x1	CASTOR2, HIP1 +3 more	Copy number loss	not provided	GUncertain significance
Select item 814990	GRCh37/hg19 7q11.23(chr7:72621722-76007380)x1	VPS37D, CLDN4 +44 more	Copy number loss	not provided	GPathogenic
Select item 688612	GRCh37/hg19 7q11.23(chr7:75076890-76007283)x3	CCL24, CCL26 +11 more	Copy number gain	not provided	GUncertain significance
Select item 687818	GRCh37/hg19 7q11.23(chr7:75091878-76117614)x1	CCL24, CCL26 +14 more	Copy number loss	not provided	GUncertain significance
Select item 687730	GRCh37/hg19 7q11.23(chr7:73799886-75388031)x1	CASTOR2, CLIP2 +10 more	Copy number loss	not provided	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 625630	GRCh37/hg19 7q11.23(chr7:72744494-76038818)	ABHD11, ABHD11-AS1 +44 more	Copy number loss	Williams syndrome	GPathogenic
Select item 563386	GRCh37/hg19 7q11.23(chr7:75082354-76007380)x1	POR, YWHAG +11 more	Copy number loss	not provided	GLikely pathogenic
Select item 563385	GRCh37/hg19 7q11.23(chr7:75085013-75995207)x3	SRRM3, CCL26 +11 more	Copy number gain	not provided	GUncertain significance
Select item 560111	Single allele	CACNA2D1, ERVW-1 +91 more	Deletion	not provided	GUncertain significance
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 441923	GRCh37/hg19 7q11.23(chr7:72456604-76007380)x1	ABHD11, ABHD11-AS1 +44 more	Copy number loss	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 395614	GRCh37/hg19 7q11.23(chr7:75125952-75145463)x3	SPDYE5	Copy number gain	See cases	GBenign
Select item 253341	GRCh37/hg19 7q11.23(chr7:73591993-75914797)x1	GTF2IRD1, CLIP2 +22 more	Copy number loss	See cases	GLikely pathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic
Select item 155387	GRCh38/hg38 7q11.22-21.11(chr7:72179092-79164071)	ABHD11, ABHD11-AS1 +285 more	Copy number gain	See cases	GLikely pathogenic
Select item 154313	GRCh38/hg38 7q11.23-21.11(chr7:74377395-82031742)x1	APTR, CACNA2D1 +194 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 144156	GRCh38/hg38 7q11.23(chr7:73352304-76722261)x1	LOC129998696, LOC129998697 +219 more	Copy number loss	See cases	GPathogenic
Select item 60279	GRCh38/hg38 7q11.23-21.11(chr7:75496701-78375575)x1	APTR, CCDC146 +109 more	Copy number loss	See cases	GPathogenic
Select item 60244	GRCh38/hg38 7q11.23-21.11(chr7:73873420-83988860)x1	APTR, CACNA2D1 +249 more	Copy number loss	See cases	GPathogenic
Select item 60237	GRCh38/hg38 7q11.22-11.23(chr7:69382353-77823832)x1	SPDYE12, SPDYE13 +330 more	Copy number loss	See cases	GPathogenic
Select item 57158	GRCh38/hg38 7q11.23(chr7:75065669-75704220)x1	GTF2IRD2B, HIP1 +22 more	Copy number loss	See cases	GUncertain significance
Select item 57096	GRCh38/hg38 7q11.22-21.11(chr7:71225344-81735657)x1	ABHD11, ABHD11-AS1 +317 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 79