"PTPRJ-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2634057	NM_002843.4(PTPRJ):c.68TGC[7] (p.Leu28_Arg29insLeu)	LOC130005691, PTPRJ	Microsatellite (inframe_insertion)	PTPRJ-related disorder	GUncertain significance
Select item 3034448	NM_002843.4(PTPRJ):c.105C>T (p.Cys35=)	PTPRJ	Single nucleotide variant (synonymous variant)	PTPRJ-related disorder	GLikely benign
Select item 2635471	NM_002843.4(PTPRJ):c.172A>T (p.Ile58Leu)	PTPRJ (I58L)	Single nucleotide variant (missense variant)	PTPRJ-related disorder	GUncertain significance
Select item 3055075	NM_002843.4(PTPRJ):c.449A>C (p.Lys150Thr)	PTPRJ (K150T)	Single nucleotide variant (missense variant)	PTPRJ-related disorder	GUncertain significance
Select item 2630937	NM_002843.4(PTPRJ):c.463C>T (p.His155Tyr)	PTPRJ (H155Y)	Single nucleotide variant (missense variant)	PTPRJ-related disorder	GUncertain significance
Select item 3031402	NM_002843.4(PTPRJ):c.582T>A (p.Thr194=)	PTPRJ	Single nucleotide variant (synonymous variant)	PTPRJ-related disorder	GLikely benign
Select item 2470265	NM_002843.4(PTPRJ):c.779C>T (p.Ser260Leu)	PTPRJ (S260L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 8690	NM_002843.4(PTPRJ):c.827A>C (p.Gln276Pro)	PTPRJ (Q276P)	Single nucleotide variant (missense variant)	PTPRJ-related disorder +2 more	GBenign/Likely benign
Select item 3050444	NM_002843.4(PTPRJ):c.1179G>A (p.Ser393=)	PTPRJ	Single nucleotide variant (synonymous variant)	PTPRJ-related disorder	GLikely benign
Select item 3037974	NM_002843.4(PTPRJ):c.1274G>A (p.Arg425His)	PTPRJ (R425H)	Single nucleotide variant (missense variant)	PTPRJ-related disorder	GLikely benign
Select item 789797	NM_002843.4(PTPRJ):c.1352A>G (p.His451Arg)	PTPRJ (H451R)	Single nucleotide variant (missense variant)	PTPRJ-related disorder +1 more	GBenign
Select item 3039529	NM_002843.4(PTPRJ):c.1410C>G (p.Ile470Met)	PTPRJ (I470M)	Single nucleotide variant (missense variant)	PTPRJ-related disorder	GLikely benign
Select item 3042100	NM_002843.4(PTPRJ):c.1495A>G (p.Thr499Ala)	PTPRJ (T499A)	Single nucleotide variant (missense variant)	PTPRJ-related disorder	GBenign
Select item 3047947	NM_002843.4(PTPRJ):c.1701C>T (p.Ser567=)	PTPRJ	Single nucleotide variant (synonymous variant)	PTPRJ-related disorder	GLikely benign
Select item 3035874	NM_002843.4(PTPRJ):c.1845G>C (p.Gly615=)	PTPRJ	Single nucleotide variant (synonymous variant)	PTPRJ-related disorder	GLikely benign
Select item 2635083	NM_002843.4(PTPRJ):c.1996A>G (p.Asn666Asp)	PTPRJ (N666D)	Single nucleotide variant (missense variant)	PTPRJ-related disorder	GUncertain significance
Select item 3034740	NM_002843.4(PTPRJ):c.2008G>A (p.Ala670Thr)	PTPRJ (A670T)	Single nucleotide variant (missense variant)	PTPRJ-related disorder	GUncertain significance
Select item 3050954	NM_002843.4(PTPRJ):c.2043C>T (p.Asp681=)	PTPRJ	Single nucleotide variant (synonymous variant)	PTPRJ-related disorder	GLikely benign
Select item 3051776	NM_002843.4(PTPRJ):c.2181C>T (p.Cys727=)	PTPRJ	Single nucleotide variant (synonymous variant)	PTPRJ-related disorder	GLikely benign
Select item 3052870	NM_002843.4(PTPRJ):c.2443+8A>G	PTPRJ	Single nucleotide variant (intron variant)	PTPRJ-related disorder	GLikely benign
Select item 3036019	NM_002843.4(PTPRJ):c.2478A>C (p.Thr826=)	PTPRJ	Single nucleotide variant (synonymous variant)	PTPRJ-related disorder	GLikely benign
Select item 3058653	NM_002843.4(PTPRJ):c.2505C>G (p.Val835=)	PTPRJ	Single nucleotide variant (synonymous variant)	PTPRJ-related disorder	GLikely benign
Select item 3059693	NM_002843.4(PTPRJ):c.2577T>C (p.Ala859=)	PTPRJ	Single nucleotide variant (synonymous variant)	PTPRJ-related disorder	GLikely benign
Select item 3031155	NM_002843.4(PTPRJ):c.3230-10A>C	PTPRJ	Single nucleotide variant (intron variant)	PTPRJ-related disorder	GLikely benign
Select item 3045836	NM_002843.4(PTPRJ):c.3506C>T (p.Thr1169Ile)	PTPRJ (T1169I)	Single nucleotide variant (missense variant)	PTPRJ-related disorder	GLikely benign
Select item 3035511	NM_002843.4(PTPRJ):c.3664G>A (p.Val1222Ile)	PTPRJ (V1222I)	Single nucleotide variant (missense variant)	PTPRJ-related disorder	GLikely benign
Select item 3058130	NM_002843.4(PTPRJ):c.3683A>G (p.Gln1228Arg)	PTPRJ (Q1228R)	Single nucleotide variant (missense variant)	PTPRJ-related disorder	GLikely benign
Select item 3045838	NM_002843.4(PTPRJ):c.3719+4C>T	PTPRJ	Single nucleotide variant (intron variant)	PTPRJ-related disorder	GLikely benign
Select item 3061200	NM_002843.4(PTPRJ):c.3776T>C (p.Ile1259Thr)	PTPRJ (I1259T)	Single nucleotide variant (missense variant)	PTPRJ-related disorder	GUncertain significance
Select item 3057828	NM_002843.4(PTPRJ):c.3792C>T (p.Thr1264=)	PTPRJ	Single nucleotide variant (synonymous variant)	PTPRJ-related disorder	GLikely benign
Select item 3058251	NM_002843.4(PTPRJ):c.4008C>T (p.Ile1336=)	PTPRJ	Single nucleotide variant (synonymous variant)	PTPRJ-related disorder	GLikely benign

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Items: 31