ClinVar for Gene (Select 222183) - ClinVar

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Links from Gene

Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3322730	NM_001110199.3(SRRM3):c.499C>T (p.Pro167Ser)	SRRM3 (P167S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322729	NM_001110199.3(SRRM3):c.146G>A (p.Arg49His)	SRRM3 (R49H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322728	NM_001110199.3(SRRM3):c.1252G>T (p.Gly418Cys)	SRRM3 (G418C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170210	NM_001110199.3(SRRM3):c.971A>T (p.His324Leu)	SRRM3 (H324L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170209	NM_001110199.3(SRRM3):c.970C>T (p.His324Tyr)	SRRM3 (H324Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170208	NM_001110199.3(SRRM3):c.959G>A (p.Arg320Gln)	SRRM3 (R320Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170207	NM_001110199.3(SRRM3):c.860G>T (p.Arg287Leu)	SRRM3 (R287L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170206	NM_001110199.3(SRRM3):c.66C>G (p.Phe22Leu)	SRRM3 (F22L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170205	NM_001110199.3(SRRM3):c.611A>C (p.Lys204Thr)	SRRM3 (K204T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170204	NM_001110199.3(SRRM3):c.527G>A (p.Gly176Asp)	SRRM3 (G176D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170203	NM_001110199.3(SRRM3):c.409G>C (p.Gly137Arg)	SRRM3 (G137R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170202	NM_001110199.3(SRRM3):c.176G>A (p.Arg59His)	SRRM3 (R59H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170201	NM_001110199.3(SRRM3):c.1485C>G (p.His495Gln)	SRRM3 (H495Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170200	NM_001110199.3(SRRM3):c.1485C>A (p.His495Gln)	SRRM3 (H495Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170199	NM_001110199.3(SRRM3):c.1478G>A (p.Gly493Asp)	SRRM3 (G493D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170198	NM_001110199.3(SRRM3):c.1427C>T (p.Ala476Val)	SRRM3 (A476V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170197	NM_001110199.3(SRRM3):c.1145G>T (p.Gly382Val)	SRRM3 (G382V)	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 2684490	GRCh37/hg19 7q11.23(chr7:75835229-75951903)x3	HSPB1, SRRM3	Copy number gain	not provided	GUncertain significance
Select item 2657621	NM_001110199.3(SRRM3):c.1002G>T (p.Pro334=)	SRRM3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657620	NM_001110199.3(SRRM3):c.848G>A (p.Arg283Gln)	SRRM3 (R283Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2598385	NM_001110199.3(SRRM3):c.239C>T (p.Ser80Leu)	SRRM3 (S80L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598214	NM_001110199.3(SRRM3):c.668G>A (p.Arg223Gln)	SRRM3 (R223Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597093	NM_001110199.3(SRRM3):c.995A>C (p.His332Pro)	SRRM3 (H332P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593066	NM_001110199.3(SRRM3):c.1734C>T (p.Ser578=)	SRRM3 (R605C)	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2550588	NM_001110199.3(SRRM3):c.101G>T (p.Arg34Leu)	SRRM3 (R34L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538929	NM_001110199.3(SRRM3):c.1135G>C (p.Ala379Pro)	SRRM3 (A379P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534644	NM_001110199.3(SRRM3):c.1151G>C (p.Gly384Ala)	SRRM3 (G384A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531844	NM_001110199.3(SRRM3):c.977G>C (p.Gly326Ala)	SRRM3 (G326A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470530	NM_001110199.3(SRRM3):c.1064C>A (p.Thr355Lys)	SRRM3 (T355K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425825	NC_000007.13:g.(?_75583311)_(75988125_?)dup	HSPB1, MDH2 +5 more	Duplication	not provided	GUncertain significance
Select item 2407779	NM_001110199.3(SRRM3):c.973G>T (p.Gly325Trp)	SRRM3 (G325W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400863	NM_001110199.3(SRRM3):c.943G>C (p.Gly315Arg)	SRRM3 (G315R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393008	NM_001110199.3(SRRM3):c.1432G>A (p.Gly478Ser)	SRRM3 (G478S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391022	NM_001110199.3(SRRM3):c.1163G>A (p.Arg388Gln)	SRRM3 (R388Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387547	NM_001110199.3(SRRM3):c.122C>G (p.Ala41Gly)	SRRM3 (A41G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382552	NM_001110199.3(SRRM3):c.1565G>C (p.Arg522Pro)	SRRM3 (R522P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380069	NM_001110199.3(SRRM3):c.410G>T (p.Gly137Val)	SRRM3 (G137V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375410	NM_001110199.3(SRRM3):c.1262G>C (p.Arg421Pro)	SRRM3 (R421P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347670	NM_001110199.3(SRRM3):c.1217G>A (p.Arg406Lys)	SRRM3 (R406K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314581	NM_001110199.3(SRRM3):c.626A>T (p.His209Leu)	SRRM3 (H209L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289998	NM_001110199.3(SRRM3):c.370G>A (p.Glu124Lys)	SRRM3 (E124K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270280	NM_001110199.3(SRRM3):c.116T>C (p.Leu39Pro)	SRRM3 (L39P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263343	NM_001110199.3(SRRM3):c.1472G>T (p.Ser491Ile)	SRRM3 (S491I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216095	NM_001110199.3(SRRM3):c.1297G>A (p.Gly433Ser)	SRRM3 (G433S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808137	GRCh37/hg19 7q11.23(chr7:75146858-75995207)x3	SRRM3, YWHAG +9 more	Copy number gain	not provided	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 1411434	NC_000007.13:g.(?_75583311)_(75988125_?)del	HSPB1, MDH2 +5 more	Deletion	not provided	GUncertain significance
Select item 1342322	NC_000007.14:g.(75058300_?)_(?_79083658)del	APTR, CCDC146 +126 more	Deletion	Distal 7q11.23 microdeletion syndrome	GPathogenic
Select item 979622	GRCh37/hg19 7q11.23(chr7:72403117-76709600)x1	TBL2, TMEM120A +50 more	Copy number loss	not provided	GPathogenic
Select item 831245	NC_000007.13:g.(?_75914933)_(76029908_?)del	HSPB1, SRRM3 +3 more	Deletion	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 688947	GRCh37/hg19 7q11.23(chr7:75233243-76007283)x3	CCL24, CCL26 +9 more	Copy number gain	not provided	GUncertain significance
Select item 688612	GRCh37/hg19 7q11.23(chr7:75076890-76007283)x3	CCL24, CCL26 +11 more	Copy number gain	not provided	GUncertain significance
Select item 688352	GRCh37/hg19 7q11.23(chr7:75748898-75981782)x3	HSPB1, SRRM3 +1 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 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 563383	GRCh37/hg19 7q11.23(chr7:75384846-76279036)x3	STYXL1, CCL24 +12 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 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 147350	GRCh38/hg38 7q11.23(chr7:75568161-76584760)x1	CCL24, CCL26 +63 more	Copy number loss	See cases	GUncertain significance
Select item 146877	GRCh38/hg38 7q11.23(chr7:75529854-76611483)x1	CCL24, CCL26 +65 more	Copy number loss	See cases	GPathogenic
Select item 146678	GRCh38/hg38 7q11.23(chr7:75529854-76626561)x3	CCL24, CCL26 +65 more	Copy number gain	See cases	GUncertain significance
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 57573	GRCh38/hg38 7q11.23(chr7:75526437-76499472)x1	CCL24, CCL26 +63 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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Items: 83