ClinVar for MedGen (Select 322173) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3584052	NM_004069.6(AP2S1):c.13A>G (p.Ile5Val)	AP2S1 (I5V +2 more)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia 3	GUncertain significance
Select item 3584050	NM_004069.6(AP2S1):c.418T>A (p.Ser140Thr)	AP2S1 (S102T +4 more)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia 3	GUncertain significance
Select item 2893299	NM_004069.6(AP2S1):c.386C>T (p.Thr129Met)	AP2S1 (T145M +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2848182	NM_004069.6(AP2S1):c.285C>T (p.Phe95=)	AP2S1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2150903	NM_004069.6(AP2S1):c.335C>T (p.Thr112Met)	AP2S1 (T112M +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1670990	NM_004069.6(AP2S1):c.387G>A (p.Thr129=)	AP2S1	Single nucleotide variant (synonymous variant)	Familial hypocalciuric hypercalcemia 3 +1 more	GLikely benign
Select item 1654562	NM_004069.6(AP2S1):c.111C>T (p.Ala37=)	AP2S1	Single nucleotide variant (synonymous variant)	Familial hypocalciuric hypercalcemia 3 +1 more	GBenign/Likely benign
Select item 1600451	NM_004069.6(AP2S1):c.4-14_4-12del	AP2S1	Microsatellite (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1596996	NM_004069.6(AP2S1):c.75T>C (p.Asp25=)	AP2S1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1395311	NM_004069.6(AP2S1):c.153+5C>T	AP2S1	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1192407	NM_004069.6(AP2S1):c.154-32T>G	AP2S1 (I55S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 1167857	NM_004069.6(AP2S1):c.261C>T (p.Phe87=)	AP2S1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 999396	NM_004069.6(AP2S1):c.267+7C>T	AP2S1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 421594	NM_004069.6(AP2S1):c.28C>T (p.Arg10Trp)	AP2S1 (R10W +2 more)	Single nucleotide variant (missense variant)	AP2S1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 39426	NM_004069.6(AP2S1):c.44G>A (p.Arg15His)	AP2S1 (R15H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 39425	NM_004069.6(AP2S1):c.44G>T (p.Arg15Leu)	AP2S1 (R15L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 39424	NM_004069.6(AP2S1):c.43C>T (p.Arg15Cys)	AP2S1 (R15C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic