ClinVar for Gene (Select 114971) - ClinVar

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Links from Gene

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3149056	NM_175732.3(PTPMT1):c.565C>T (p.Arg189Trp)	PTPMT1 (R189W)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3149055	NM_175732.3(PTPMT1):c.463C>A (p.Pro155Thr)	PTPMT1 (P155T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149054	NM_175732.3(PTPMT1):c.222G>C (p.Glu74Asp)	PTPMT1 (V111L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112970	NM_018095.6(KBTBD4):c.1517C>T (p.Thr506Ile)	KBTBD4, PTPMT1 (T490I +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2599822	NM_175732.3(PTPMT1):c.22G>C (p.Glu8Gln)	PTPMT1 (E8Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539391	NM_018095.6(KBTBD4):c.1180G>A (p.Gly394Arg)	KBTBD4, PTPMT1 (G394R +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2538772	NM_018095.6(KBTBD4):c.1292A>C (p.Tyr431Ser)	KBTBD4, PTPMT1 (Y438S +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2426467	NC_000011.9:g.(?_45827353)_(47804770_?)del	ACP2, AGBL2 +40 more	Deletion	Leukocyte adhesion deficiency type II	GPathogenic
Select item 2396111	NM_018095.6(KBTBD4):c.1372G>T (p.Val458Leu)	KBTBD4, PTPMT1 (V465L +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2394727	NM_018095.6(KBTBD4):c.1206G>T (p.Glu402Asp)	KBTBD4, PTPMT1 (E409D +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2372688	NM_175732.3(PTPMT1):c.286C>T (p.Arg96Trp)	PTPMT1 (R96W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360508	NM_175732.3(PTPMT1):c.487G>A (p.Ala163Thr)	PTPMT1 (R135H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2308799	NM_018095.6(KBTBD4):c.1433C>G (p.Ser478Cys)	KBTBD4, PTPMT1 (S462C +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2293070	NM_175732.3(PTPMT1):c.407G>A (p.Arg136His)	PTPMT1 (R136H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257912	NM_175732.3(PTPMT1):c.562G>A (p.Ala188Thr)	PTPMT1 (A188T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2211762	NM_175732.3(PTPMT1):c.277G>A (p.Glu93Lys)	PTPMT1 (E93K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACP2, ACCS +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1000344	NC_000011.9:g.(?_45827353)_(47804770_?)dup	ARHGAP1, ATG13 +40 more	Duplication	Leukocyte adhesion deficiency type II	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 720436	NM_175732.3(PTPMT1):c.605G>C (p.Ter202Ser)	PTPMT1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 150595	GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3	ACCS, ACCSL +255 more	Copy number gain	See cases	GLikely pathogenic
Select item 148316	GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1	ACCS, ACCSL +265 more	Copy number loss	See cases	GPathogenic
Select item 146079	GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1	ACCS, ACCSL +259 more	Copy number loss	See cases	GPathogenic
Select item 145004	GRCh38/hg38 11p11.2(chr11:47568261-47595569)x3	C1QTNF4, FAM180B +5 more	Copy number gain	See cases	GBenign
Select item 57329	GRCh38/hg38 11p11.2(chr11:46840454-48643003)x1	ACP2, AGBL2 +88 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 28