"PROS1-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 3054560	NM_000313.4(PROS1):c.2031A>G (p.Ter677=)	PROS1	Single nucleotide variant (synonymous variant)	PROS1-related disorder	GLikely benign
Select item 1523041	NM_000313.4(PROS1):c.2000_2001inv (p.Pro667Leu)	PROS1 (P699L +1 more)	Inversion (missense variant)	PROS1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2635457	NM_000313.4(PROS1):c.1960G>A (p.Ala654Thr)	PROS1 (A654T +1 more)	Single nucleotide variant (missense variant)	PROS1-related disorder	GUncertain significance
Select item 161344	NM_000313.4(PROS1):c.1762A>G (p.Thr588Ala)	PROS1 (T588A +1 more)	Single nucleotide variant (missense variant)	PROS1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2446142	NM_000313.4(PROS1):c.1644+4A>T	PROS1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 161343	NM_000313.4(PROS1):c.1528G>A (p.Val510Met)	PROS1 (V510M +1 more)	Single nucleotide variant (missense variant)	PROS1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 576236	NM_000313.4(PROS1):c.1454A>C (p.Tyr485Ser)	PROS1 (Y485S +1 more)	Single nucleotide variant (missense variant)	Protein S deficiency disease +2 more	GUncertain significance
Select item 1055351	NM_000313.4(PROS1):c.1324A>G (p.Ile442Val)	PROS1 (I442V +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal recessive +2 more	GUncertain significance
Select item 3058209	NM_000313.4(PROS1):c.1323+37G>A	PROS1	Single nucleotide variant (intron variant)	PROS1-related disorder	GLikely benign
Select item 2635361	NM_000313.4(PROS1):c.1313T>G (p.Leu438Arg)	PROS1 (L438R +1 more)	Single nucleotide variant (missense variant)	PROS1-related disorder	GUncertain significance
Select item 3029009	NM_000313.4(PROS1):c.1191T>C (p.Ile397=)	PROS1	Single nucleotide variant (synonymous variant)	PROS1-related disorder	GLikely benign
Select item 1100971	NM_000313.4(PROS1):c.1044G>A (p.Ala348=)	PROS1	Single nucleotide variant (synonymous variant)	PROS1-related disorder +1 more	GLikely benign
Select item 2635067	NM_000313.4(PROS1):c.1030A>G (p.Ile344Val)	PROS1 (I344V +1 more)	Single nucleotide variant (missense variant)	PROS1-related disorder	GUncertain significance
Select item 1098950	NM_000313.4(PROS1):c.1020C>T (p.Tyr340=)	PROS1	Single nucleotide variant (synonymous variant)	PROS1-related disorder +1 more	GLikely benign
Select item 2886434	NM_000313.4(PROS1):c.912G>A (p.Glu304=)	PROS1	Single nucleotide variant (synonymous variant)	Thrombophilia due to protein S deficiency, autosomal recessive +1 more	GLikely benign
Select item 1903888	NM_000313.4(PROS1):c.864C>T (p.Cys288=)	PROS1	Single nucleotide variant (synonymous variant)	Thrombophilia due to protein S deficiency, autosomal recessive +1 more	GLikely benign
Select item 2637372	NM_000313.4(PROS1):c.823C>T (p.Leu275Phe)	PROS1 (L275F +1 more)	Single nucleotide variant (missense variant)	PROS1-related disorder	GUncertain significance
Select item 697260	NM_000313.4(PROS1):c.728-8dup	PROS1	Duplication (intron variant)	PROS1-related disorder +1 more	GLikely benign
Select item 161346	NM_000313.4(PROS1):c.698G>A (p.Arg233Lys)	PROS1 (R233K +1 more)	Single nucleotide variant (missense variant)	Finnish congenital nephrotic syndrome +4 more	GConflicting classifications of pathogenicity
Select item 13318	NM_000313.4(PROS1):c.586A>G (p.Lys196Glu)	PROS1 (K196E +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal recessive +2 more	GPathogenic
Select item 346891	NM_000313.4(PROS1):c.503A>G (p.Asn168Ser)	PROS1 (N168S +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 161347	NM_000313.4(PROS1):c.431C>A (p.Thr144Asn)	PROS1 (T144N +1 more)	Single nucleotide variant (missense variant)	PROS1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 969063	NM_000313.4(PROS1):c.258A>G (p.Leu86=)	PROS1	Single nucleotide variant (synonymous variant)	Thrombophilia due to protein S deficiency, autosomal recessive +2 more	GConflicting classifications of pathogenicity
Select item 215991	NM_000313.4(PROS1):c.233C>T (p.Thr78Met)	PROS1 (T78M +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 945955	NM_000313.4(PROS1):c.200A>C (p.Glu67Ala)	PROS1 (E67A +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal recessive +2 more	GPathogenic/Likely pathogenic
Select item 346893	NM_000313.4(PROS1):c.119G>T (p.Arg40Leu)	PROS1 (R40L +1 more)	Single nucleotide variant (missense variant)	PROS1-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 581502	NM_000313.4(PROS1):c.77-1G>C	PROS1	Single nucleotide variant (splice acceptor variant)	Thrombophilia due to protein S deficiency, autosomal dominant +3 more	GPathogenic
Select item 215729	NM_000313.4(PROS1):c.76+7A>G	PROS1	Single nucleotide variant (intron variant)	Thrombophilia due to protein S deficiency, autosomal recessive +4 more	GConflicting classifications of pathogenicity
Select item 695726	NM_000313.4(PROS1):c.48C>A (p.Leu16=)	PROS1	Single nucleotide variant (synonymous variant)	PROS1-related disorder +1 more	GBenign/Likely benign
Select item 900811	NM_000313.4(PROS1):c.-48C>A	PROS1	Single nucleotide variant (5 prime UTR variant)	PROS1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 902481	NM_000313.3(PROS1):c.-190C>G	PROS1	Single nucleotide variant	PROS1-related disorder +2 more	GConflicting classifications of pathogenicity

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Items: 31