PCMTD2[gene] - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 3235944	GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	ABHD16B, ADNP +635 more	Copy number gain	20q13.13qter duplication	GPathogenic
Select item 155517	GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3	LOC130066240, LOC130066241 +553 more	Copy number gain	See cases	GLikely pathogenic
Select item 148973	GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3	ABHD16B, ADRM1 +491 more	Copy number gain	See cases	GPathogenic
Select item 152840	GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3	LOC130066376, LOC130066377 +464 more	Copy number gain	See cases	GPathogenic
Select item 146530	GRCh38/hg38 20q13.32-13.33(chr20:59041966-64277321)x3	ABHD16B, ADRM1 +355 more	Copy number gain	See cases	GPathogenic
Select item 150212	GRCh38/hg38 20q13.33(chr20:61326549-64277326)x3	ABHD16B, ADRM1 +312 more	Copy number gain	See cases	GPathogenic
Select item 144360	GRCh38/hg38 20q13.33(chr20:62561794-64277321)x1	OGFR-AS1, OPRL1 +248 more	Copy number loss	See cases	GPathogenic
Select item 153305	GRCh38/hg38 20q13.33(chr20:62582073-64284202)x1	ABHD16B, ARFGAP1 +244 more	Copy number loss	See cases	GPathogenic
Select item 153207	GRCh38/hg38 20q13.33(chr20:62663307-64284202)x1	ABHD16B, ARFGAP1 +230 more	Copy number loss	See cases	GPathogenic
Select item 148310	GRCh38/hg38 20q13.33(chr20:63153963-64277321)x1	RGS19, RTEL1 +181 more	Copy number loss	See cases	GPathogenic
Select item 160985	GRCh38/hg38 20q13.33(chr20:63199020-64277321)x3	ABHD16B, ARFGAP1 +177 more	Copy number gain	See cases	GPathogenic
Select item 146197	GRCh38/hg38 20q13.33(chr20:63199020-64277321)x1	ABHD16B, ARFGAP1 +177 more	Copy number loss	See cases	GLikely pathogenic
Select item 153330	GRCh38/hg38 20q13.33(chr20:63385523-64270639)x3	ABHD16B, ARFRP1 +156 more	Copy number gain	See cases	GUncertain significance
Select item 147280	GRCh38/hg38 20q13.33(chr20:64023324-64261777)x1	C20orf204, LKAAEAR1 +31 more	Copy number loss	See cases	GPathogenic
Select item 144315	GRCh38/hg38 20q13.33(chr20:64130783-64277321)x3	LOC110594337, LOC120285836 +3 more	Copy number gain	See cases	GBenign
Select item 59001	GRCh38/hg38 20q13.33(chr20:64140190-64277321)x3	LOC120285836, LOC126863092 +2 more	Copy number gain	See cases	GUncertain significance
Select item 57186	GRCh38/hg38 20q13.33(chr20:64157529-64277321)x3	LOC120285836, MYT1 +1 more	Copy number gain	See cases	GUncertain significance
Select item 154439	GRCh38/hg38 20q13.33(chr20:64177078-64277326)x3	MYT1, PCMTD2	Copy number gain	See cases	GUncertain significance
Select item 145936	GRCh38/hg38 20q13.33(chr20:64197187-64317737)x3	LINC00266-1, MYT1 +1 more	Copy number gain	See cases	GLikely benign
Select item 144162	GRCh38/hg38 20q13.33(chr20:64197187-64277321)x3	MYT1, PCMTD2	Copy number gain	See cases	GUncertain significance
Select item 58980	GRCh38/hg38 20q13.33(chr20:64206685-64261836)x1	MYT1, PCMTD2	Copy number loss	See cases	GPathogenic
Select item 2387980	NM_018257.3(PCMTD2):c.74G>A (p.Arg25Gln)	PCMTD2 (R25Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210348	NM_018257.3(PCMTD2):c.197C>T (p.Pro66Leu)	PCMTD2 (P66L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465233	NM_018257.3(PCMTD2):c.235C>G (p.Gln79Glu)	PCMTD2 (Q79E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210349	NM_018257.3(PCMTD2):c.683G>A (p.Gly228Glu)	PCMTD2 (G201E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602905	NM_018257.3(PCMTD2):c.748G>A (p.Ala250Thr)	PCMTD2 (A223T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511774	NM_018257.3(PCMTD2):c.790G>T (p.Val264Leu)	PCMTD2 (V264L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458061	NM_018257.3(PCMTD2):c.848G>A (p.Arg283His)	PCMTD2 (R256H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210350	NM_018257.3(PCMTD2):c.911A>G (p.Asn304Ser)	PCMTD2 (N277S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537240	NM_018257.3(PCMTD2):c.931T>C (p.Cys311Arg)	PCMTD2 (C311R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537241	NM_018257.3(PCMTD2):c.932G>T (p.Cys311Phe)	PCMTD2 (C284F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210351	NM_018257.3(PCMTD2):c.977C>T (p.Pro326Leu)	PCMTD2 (P326L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2685653	GRCh37/hg19 20q13.33(chr20:62347562-62915555)x1	ABHD16B, DNAJC5 +17 more	Copy number loss	not provided	GUncertain significance
Select item 2580344	GRCh37/hg19 20q13.2-13.33(chr20:52773668-62965020)x3	ABHD16B, ADRM1 +113 more	Copy number gain	See cases	GUncertain significance
Select item 1808258	GRCh37/hg19 20q13.33(chr20:60621074-62915555)x3	ABHD16B, ADRM1 +63 more	Copy number gain	not provided	GUncertain significance
Select item 1526699	GRCh37/hg19 20q13.33(chr20:61619222-62915555)	ABHD16B, ARFGAP1 +38 more	Copy number loss	not specified	GPathogenic
Select item 1526698	GRCh37/hg19 20q13.33(chr20:61003263-62915555)	ABHD16B, ARFGAP1 +51 more	Copy number loss	not specified	GPathogenic
Select item 1526695	GRCh37/hg19 20q13.33(chr20:60473339-62915555)	OGFR, OPRL1 +64 more	Copy number gain	not specified	GUncertain significance
Select item 1526694	GRCh37/hg19 20q13.32-13.33(chr20:56835739-62915555)	LAMA5, LIME1 +88 more	Copy number gain	not specified	GPathogenic
Select item 1340670	GRCh37/hg19 20q13.33(chr20:61775756-62915555)x1	ABHD16B, ARFGAP1 +35 more	Copy number loss	not provided	GPathogenic
Select item 1326336	GRCh37/hg19 20q13.33(chr20:61038552-62907579)	HELZ2, DIDO1 +51 more	Copy number loss	Seizures, benign familial neonatal, 1 +1 more	GLikely pathogenic
Select item 1326335	GRCh37/hg19 20q13.33(chr20:61273854-62907579)	PCMTD2, SAMD10 +47 more	Copy number loss	Seizures, benign familial neonatal, 1 +1 more	GLikely pathogenic
Select item 1180535	GRCh37/hg19 20q13.2-13.33(chr20:51799648-62916626)x3	GATA5, ZBTB46 +116 more	Copy number gain	not provided	GPathogenic
Select item 979739	GRCh37/hg19 20q13.33(chr20:62576747-62915555)x3	PRPF6, TCEA2 +10 more	Copy number gain	not provided	GUncertain significance
Select item 979738	GRCh37/hg19 20q13.33(chr20:61975605-62915555)x1	ARFRP1, DNAJC5 +30 more	Copy number loss	not provided	GPathogenic
Select item 816137	GRCh37/hg19 20q13.33(chr20:61152321-62915555)x1	ABHD16B, ARFGAP1 +49 more	Copy number loss	not provided	GPathogenic
Select item 564637	GRCh37/hg19 20q13.33(chr20:62002369-62915555)x1	SOX18, GMEB2 +29 more	Copy number loss	not provided	GPathogenic
Select item 564634	GRCh37/hg19 20q13.33(chr20:62090403-62915555)x1	PCMTD2, ZGPAT +29 more	Copy number loss	not provided	GPathogenic
Select item 564613	GRCh37/hg19 20q13.33(chr20:62766314-62915555)x1	MYT1, PCMTD2	Copy number loss	not provided	GUncertain significance
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	DZANK1, E2F1 +540 more	Copy number gain	See cases	GPathogenic
Select item 442977	GRCh37/hg19 20q13.33(chr20:62762392-62915555)x3	MYT1, PCMTD2	Copy number gain	See cases	GUncertain significance
Select item 442701	GRCh37/hg19 20q13.33(chr20:61884113-62915555)x1	ABHD16B, ARFGAP1 +33 more	Copy number loss	See cases	GPathogenic
Select item 441724	GRCh37/hg19 20q13.2-13.33(chr20:51542616-62915555)x3	ABHD16B, ADRM1 +116 more	Copy number gain	See cases	GLikely pathogenic
Select item 425532	GRCh37/hg19 20q13.33(chr20:61337529-62904501)x1	COL9A3, DIDO1 +46 more	Copy number loss	not provided	GLikely pathogenic
Select item 395261	GRCh37/hg19 20q13.33(chr20:61827144-62907467)x1	ARFGAP1, ARFRP1 +35 more	Copy number loss	See cases	GPathogenic
Select item 393857	GRCh37/hg19 20q13.33(chr20:62731576-62907467)x3	MYT1, NPBWR2 +2 more	Copy number gain	See cases	GBenign
Select item 253445	GRCh37/hg19 20q13.33(chr20:61827144-62907526)x1	PPDPF, OPRL1 +35 more	Copy number loss	See cases	GPathogenic

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Items: 60