ClinVar for Gene (Select 53637) - ClinVar

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Links from Gene

Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3315972	NM_030760.5(S1PR5):c.508G>T (p.Ala170Ser)	S1PR5 (A170S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315971	NM_030760.5(S1PR5):c.1107G>C (p.Gln369His)	S1PR5 (Q369H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315970	NM_030760.5(S1PR5):c.113C>A (p.Ala38Asp)	S1PR5 (A38D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315968	NM_030760.5(S1PR5):c.218T>C (p.Leu73Pro)	S1PR5 (L73P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248458	NC_000019.9:g.(?_10461510)_(10941723_?)dup	AP1M2, ATG4D +12 more	Duplication	Immunodeficiency 35	GUncertain significance
Select item 3248376	NC_000019.9:g.(?_10244343)_(11231218_?)del	AP1M2, ATG4D +29 more	Deletion	Familial hypercholesterolemia	GPathogenic
Select item 3157447	NM_030760.5(S1PR5):c.830G>T (p.Cys277Phe)	S1PR5 (C277F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157446	NM_030760.5(S1PR5):c.68G>T (p.Gly23Val)	S1PR5 (G23V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157445	NM_030760.5(S1PR5):c.683C>T (p.Ala228Val)	S1PR5 (A228V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157444	NM_030760.5(S1PR5):c.598G>C (p.Ala200Pro)	S1PR5 (A200P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157443	NM_030760.5(S1PR5):c.536T>C (p.Leu179Pro)	S1PR5 (L179P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157442	NM_030760.5(S1PR5):c.385A>G (p.Ile129Val)	S1PR5 (I129V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157441	NM_030760.5(S1PR5):c.29C>G (p.Pro10Arg)	S1PR5 (P10R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157440	NM_030760.5(S1PR5):c.212T>C (p.Met71Thr)	S1PR5 (M71T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157439	NM_030760.5(S1PR5):c.124G>T (p.Val42Leu)	S1PR5 (V42L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157438	NM_030760.5(S1PR5):c.1180G>A (p.Glu394Lys)	S1PR5 (E394K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062391	GRCh37/hg19 19p13.2(chr19:10441330-13077352)x1	MIR199A1, ODAD3 +87 more	Copy number loss	not specified	GPathogenic
Select item 2684884	GRCh37/hg19 19p13.2(chr19:10477778-11154144)x3	AP1M2, ATG4D +18 more	Copy number gain	not provided	GUncertain significance
Select item 2649295	NM_030760.5(S1PR5):c.984C>T (p.Cys328=)	S1PR5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2609264	NM_030760.5(S1PR5):c.1073G>A (p.Gly358Glu)	S1PR5 (G358E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498798	GRCh37/hg19 19p13.2(chr19:10624491-10969019)x3	ILF3, AP1M2 +10 more	Copy number gain	not provided	GUncertain significance
Select item 2492090	NM_030760.5(S1PR5):c.686G>A (p.Arg229Gln)	S1PR5 (R229Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400658	NM_030760.5(S1PR5):c.427G>A (p.Ala143Thr)	S1PR5 (A143T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393933	NM_030760.5(S1PR5):c.67G>A (p.Gly23Ser)	S1PR5 (G23S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338794	NM_030760.5(S1PR5):c.644T>G (p.Ile215Ser)	S1PR5 (I215S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314373	NM_030760.5(S1PR5):c.631C>G (p.Leu211Val)	S1PR5 (L211V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311920	NM_030760.5(S1PR5):c.902T>C (p.Leu301Pro)	S1PR5 (L301P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303291	NM_030760.5(S1PR5):c.139T>G (p.Cys47Gly)	S1PR5 (C47G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261137	NM_030760.5(S1PR5):c.703A>G (p.Thr235Ala)	S1PR5 (T235A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256762	NM_030760.5(S1PR5):c.278T>C (p.Ile93Thr)	S1PR5 (I93T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251901	NM_030760.5(S1PR5):c.449G>T (p.Arg150Leu)	S1PR5 (R150L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237237	NM_030760.5(S1PR5):c.820G>T (p.Asp274Tyr)	S1PR5 (D274Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233441	NM_030760.5(S1PR5):c.995C>T (p.Pro332Leu)	S1PR5 (P332L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1526655	GRCh37/hg19 19p13.2(chr19:10584393-10938252)	MIR199A1, SLC44A2 +9 more	Copy number gain	not specified	GUncertain significance
Select item 1340718	GRCh37/hg19 19p13.2(chr19:9941033-11739567)x3	ACP5, ANGPTL6 +59 more	Copy number gain	not provided	GUncertain significance
Select item 788918	NM_030760.5(S1PR5):c.423G>A (p.Gly141=)	S1PR5	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 788018	NM_030760.5(S1PR5):c.923T>A (p.Leu308His)	S1PR5 (L308H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 788017	NM_030760.5(S1PR5):c.1178C>G (p.Ser393Ter)	S1PR5 (S393*)	Single nucleotide variant (nonsense)	not provided	GLikely benign
Select item 781454	NM_030760.5(S1PR5):c.825G>A (p.Val275=)	S1PR5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 769957	NM_030760.5(S1PR5):c.567C>T (p.Tyr189=)	S1PR5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 748408	NM_030760.5(S1PR5):c.429G>A (p.Ala143=)	S1PR5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 688450	GRCh37/hg19 19p13.2(chr19:10441330-10977962)x1	CDKN2D, DNM2 +16 more	Copy number loss	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 395688	GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426)	ADGRL1, ANGPTL6 +153 more	Copy number gain	See cases	GPathogenic
Select item 394483	GRCh37/hg19 19p13.2(chr19:10286133-11040457)x1	AP1M2, ATG4D +27 more	Copy number loss	See cases	GPathogenic
Select item 153250	GRCh38/hg38 19p13.2(chr19:10330655-10920552)x1	AP1M2, ATG4D +84 more	Copy number loss	See cases	GLikely pathogenic
Select item 153069	GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1	ACP5, ANGPTL8 +434 more	Copy number loss	See cases	GPathogenic
Select item 147570	GRCh38/hg38 19p13.2(chr19:10156406-10889688)x3	LOC130063493, LOC130063494 +116 more	Copy number gain	See cases	GPathogenic
Select item 146077	GRCh38/hg38 19p13.2(chr19:9735443-11228001)x1	PPAN, PPAN-P2RY11 +184 more	Copy number loss	See cases	GPathogenic
Select item 59111	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	LOC130063608, LOC130063609 +484 more	Copy number gain	See cases	GPathogenic
Select item 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	LOC126862863, LOC126862864 +536 more	Copy number gain	See cases	GLikely pathogenic

ClinVar

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Links from Gene

Items: 52