"PreventionGenetics, part of Exact Sciences"[submitter] AND "LOC126860 - ClinVar - NCBI

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Search results

Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3055817	NM_002839.4(PTPRD):c.2983C>T (p.Arg995Cys)	LOC126860578, PTPRD (R995C)	Single nucleotide variant (missense variant +1 more)	PTPRD-related disorder	GBenign
Select item 2635568	NM_002839.4(PTPRD):c.2941C>G (p.Leu981Val)	LOC126860578, PTPRD (L981V)	Single nucleotide variant (missense variant +1 more)	PTPRD-related disorder	GUncertain significance
Select item 770198	NM_002839.4(PTPRD):c.2889C>T (p.Ile963=)	LOC126860578, PTPRD	Single nucleotide variant (synonymous variant +1 more)	PTPRD-related disorder +1 more	GBenign
Select item 3050497	NM_002839.4(PTPRD):c.2886C>T (p.Asn962=)	LOC126860578, PTPRD	Single nucleotide variant (synonymous variant +1 more)	PTPRD-related disorder	GLikely benign
Select item 716918	NM_002839.4(PTPRD):c.2821C>G (p.Pro941Ala)	LOC126860578, PTPRD (P941A)	Single nucleotide variant (missense variant +1 more)	PTPRD-related disorder +1 more	GBenign
Select item 3039393	NM_002839.4(PTPRD):c.2756C>A (p.Thr919Asn)	LOC126860578, PTPRD (T919N)	Single nucleotide variant (missense variant +1 more)	PTPRD-related disorder	GBenign
Select item 786819	NM_002839.4(PTPRD):c.2685C>G (p.Leu895=)	LOC126860578, PTPRD	Single nucleotide variant (synonymous variant +1 more)	PTPRD-related disorder +1 more	GBenign/Likely benign
Select item 717708	NM_002839.4(PTPRD):c.2675T>C (p.Val892Ala)	LOC126860578, PTPRD (V892A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 733743	NM_002839.4(PTPRD):c.2643A>C (p.Thr881=)	LOC126860578, PTPRD	Single nucleotide variant (synonymous variant +1 more)	PTPRD-related disorder +1 more	GBenign/Likely benign
Select item 3039525	NM_002839.4(PTPRD):c.2600C>T (p.Pro867Leu)	LOC126860578, PTPRD (P867L)	Single nucleotide variant (missense variant +1 more)	PTPRD-related disorder	GBenign
Select item 2659064	NM_002839.4(PTPRD):c.2468-6C>T	LOC126860578, PTPRD	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign