TMEM60[gene] - ClinVar

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Items: 31

	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 60237	GRCh38/hg38 7q11.22-11.23(chr7:69382353-77823832)x1	SPDYE12, SPDYE13 +330 more	Copy number loss	See cases	GPathogenic
Select item 57096	GRCh38/hg38 7q11.22-21.11(chr7:71225344-81735657)x1	ABHD11, ABHD11-AS1 +317 more	Copy number loss	See cases	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 60244	GRCh38/hg38 7q11.23-21.11(chr7:73873420-83988860)x1	APTR, CACNA2D1 +249 more	Copy number loss	See cases	GPathogenic
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 1342322	NC_000007.14:g.(75058300_?)_(?_79083658)del	APTR, CCDC146 +126 more	Deletion	Distal 7q11.23 microdeletion syndrome	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 148376	GRCh38/hg38 7q11.23-21.11(chr7:76440557-78180243)x3	APTR, CCDC146 +45 more	Copy number gain	See cases	GUncertain significance
Select item 2519547	NM_032936.4(TMEM60):c.394A>G (p.Arg132Gly)	TMEM60 (R132G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179553	NM_032936.4(TMEM60):c.313A>T (p.Asn105Tyr)	TMEM60 (N105Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375980	NM_032936.4(TMEM60):c.299A>G (p.Gln100Arg)	TMEM60 (Q100R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327137	NM_032936.4(TMEM60):c.280C>G (p.Leu94Val)	TMEM60 (L94V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243580	NM_032936.4(TMEM60):c.277G>A (p.Ala93Thr)	TMEM60 (A93T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238405	NM_032936.4(TMEM60):c.266C>T (p.Ala89Val)	TMEM60 (A89V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468203	NM_032936.4(TMEM60):c.250A>G (p.Met84Val)	TMEM60 (M84V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267923	NM_032936.4(TMEM60):c.241C>T (p.Leu81Phe)	TMEM60 (L81F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179552	NM_032936.4(TMEM60):c.135T>G (p.Phe45Leu)	TMEM60 (F45L)	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 1527367	GRCh37/hg19 7q11.23-21.11(chr7:77310644-84461089)	CACNA2D1, CD36 +11 more	Copy number loss	not specified	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 687344	GRCh37/hg19 7q11.23-21.11(chr7:77119381-77726101)x3	MAGI2, PHTF2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 563289	GRCh37/hg19 7q11.23(chr7:77366523-77451161)x1	PHTF2, RSBN1L +1 more	Copy number loss	not provided	GUncertain significance
Select item 560131	Single allele	CD36, GNAI1 +7 more	Deletion	not provided	GUncertain significance
Select item 560111	Single allele	CACNA2D1, ERVW-1 +91 more	Deletion	not provided	GUncertain significance
Select item 443713	GRCh37/hg19 7q11.23-21.11(chr7:77303478-77529426)x1	PHTF2, RSBN1L +1 more	Copy number loss	See cases	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 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: 31