TMEM243[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 155204	GRCh38/hg38 7q21.11-21.3(chr7:84002634-95228883)x1	ABCB1, ABCB4 +227 more	Copy number loss	See cases	GPathogenic
Select item 59621	GRCh38/hg38 7q21.11-21.12(chr7:86669909-87492659)x3	ABCB4, CROT +30 more	Copy number gain	See cases	GUncertain significance
Select item 2468880	NM_024315.4(TMEM243):c.329A>G (p.Asn110Ser)	TMEM243 (N110S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528319	NM_024315.4(TMEM243):c.241T>C (p.Trp81Arg)	TMEM243 (W81R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535829	NM_024315.4(TMEM243):c.183T>A (p.Asn61Lys)	TMEM243 (N61K)	Single nucleotide variant (missense variant +1 more)	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 1527369	GRCh37/hg19 7q21.11-21.3(chr7:77821356-93340137)	ABCB1, ABCB4 +50 more	Copy number gain	not specified	GPathogenic
Select item 979630	GRCh37/hg19 7q21.12(chr7:86833114-87553208)x3	ABCB4, RUNDC3B +5 more	Copy number gain	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 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	AASS, ABCA13 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	KLHL7, KLHL7-DT +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