"GeneDx"[submitter] AND "S1PR2"[gene] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1199924	NM_004230.4(S1PR2):c.*138C>T	S1PR2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1199706	NM_004230.4(S1PR2):c.*80G>A	S1PR2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1270177	NM_004230.4(S1PR2):c.*77T>G	S1PR2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 506084	NM_004230.4(S1PR2):c.1050C>T (p.Asn350=)	S1PR2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 3371560	NM_004230.4(S1PR2):c.1013T>C (p.Met338Thr)	S1PR2 (M338T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1301201	NM_004230.4(S1PR2):c.944G>A (p.Arg315Gln)	S1PR2 (R315Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1212513	NM_004230.4(S1PR2):c.943C>T (p.Arg315Trp)	S1PR2 (R315W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1301247	NM_004230.4(S1PR2):c.934G>C (p.Val312Leu)	S1PR2 (V312L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 929889	NM_004230.4(S1PR2):c.923C>T (p.Pro308Leu)	S1PR2 (P308L)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 1210475	NM_004230.4(S1PR2):c.919A>T (p.Arg307Trp)	S1PR2 (R307W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 506085	NM_004230.4(S1PR2):c.919A>C (p.Arg307=)	S1PR2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 513460	NM_004230.4(S1PR2):c.903G>A (p.Arg301=)	S1PR2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 2388665	NM_004230.4(S1PR2):c.877C>T (p.Arg293Trp)	S1PR2 (R293W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 506086	NM_004230.4(S1PR2):c.857T>C (p.Val286Ala)	S1PR2 (V286A)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1210576	NM_004230.4(S1PR2):c.855C>T (p.Pro285=)	S1PR2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 681377	NM_004230.4(S1PR2):c.844C>T (p.Leu282=)	S1PR2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1215335	NM_004230.4(S1PR2):c.826G>A (p.Val276Ile)	S1PR2 (V276I)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 930015	NM_004230.4(S1PR2):c.781G>A (p.Val261Ile)	S1PR2 (V261I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1206711	NM_004230.4(S1PR2):c.744C>A (p.Pro248=)	S1PR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1223463	NM_004230.4(S1PR2):c.717A>G (p.Leu239=)	S1PR2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 682601	NM_004230.4(S1PR2):c.678G>A (p.Pro226=)	S1PR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3364918	NM_004230.4(S1PR2):c.677C>T (p.Pro226Leu)	S1PR2 (P226L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 506087	NM_004230.4(S1PR2):c.672C>T (p.Ala224=)	S1PR2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 514987	NM_004230.4(S1PR2):c.642C>T (p.Cys214=)	S1PR2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1300381	NM_004230.4(S1PR2):c.574C>T (p.Leu192=)	S1PR2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 666750	NM_004230.4(S1PR2):c.558C>T (p.Tyr186=)	S1PR2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1214728	NM_004230.4(S1PR2):c.480G>A (p.Leu160=)	S1PR2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1201244	NM_004230.4(S1PR2):c.477G>A (p.Ser159=)	S1PR2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1570512	NM_004230.4(S1PR2):c.429C>T (p.Asp143=)	S1PR2	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1710821	NM_004230.4(S1PR2):c.407A>G (p.Lys136Arg)	S1PR2 (K136R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1810679	NM_004230.4(S1PR2):c.341T>G (p.Ile114Ser)	S1PR2 (I114S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1216964	NM_004230.4(S1PR2):c.297G>A (p.Arg99=)	S1PR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 681392	NM_004230.4(S1PR2):c.291G>A (p.Thr97=)	S1PR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 506088	NM_004230.4(S1PR2):c.249C>T (p.Gly83=)	S1PR2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1703407	NM_004230.4(S1PR2):c.229G>A (p.Ala77Thr)	S1PR2 (A77T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 508615	NM_004230.4(S1PR2):c.30C>A (p.Asn10Lys)	S1PR2 (N10K)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 1254068	NM_004230.4(S1PR2):c.-42-29GTCT[4]	S1PR2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1237698	NM_004230.4(S1PR2):c.-42-157G>A	S1PR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249810	NM_004230.4(S1PR2):c.-42-300T>C	S1PR2	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 39