PTP4A1[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148002	GRCh38/hg38 6p12.1-q12(chr6:53931543-68149750)x3	BAG2, BEND6 +147 more	Copy number gain	See cases	GPathogenic
Select item 148991	GRCh38/hg38 6p11.2-q12(chr6:57466921-68712228)x3	ADGRB3, ADGRB3-DT +105 more	Copy number gain	See cases	GPathogenic
Select item 3149033	NM_003463.5(PTP4A1):c.92A>G (p.Asn31Ser)	LOC128125822, PTP4A1 (N15S +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2335960	NM_003463.5(PTP4A1):c.237G>C (p.Gln79His)	LOC128125822, PTP4A1 (Q63H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3149032	NM_003463.5(PTP4A1):c.278G>A (p.Arg93His)	LOC128125822, PTP4A1 (R77H +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 716893	NM_003463.5(PTP4A1):c.411G>T (p.Arg137=)	LOC128125822, PTP4A1 (A152S +1 more)	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2411613	NM_003463.5(PTP4A1):c.413G>A (p.Arg138His)	LOC128125822, PTP4A1 (R122H +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 716894	NM_003463.5(PTP4A1):c.439C>T (p.Leu147=)	LOC128125822, PTP4A1	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2685205	GRCh37/hg19 6q11.1-12(chr6:61886427-67715541)x1	EYS, KHDRBS2 +3 more	Copy number loss	not provided	GUncertain significance
Select item 1676306	GRCh37/hg19 6p21.1-q12(chr6:43636308-64947206)x3	PAQR8, PGK2 +92 more	Copy number gain	not provided	GLikely pathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic