ClinVar for Gene (Select 56848) - ClinVar

Links from Gene

Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3322193	NM_020126.5(SPHK2):c.841G>A (p.Ala281Thr)	SPHK2 (A222T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322192	NM_020126.5(SPHK2):c.66C>A (p.Ser22Arg)	SPHK2 (S22R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3322191	NM_020126.5(SPHK2):c.1823T>G (p.Phe608Cys)	SPHK2 (F549C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322190	NM_020126.5(SPHK2):c.110T>C (p.Met37Thr)	SPHK2 (M1T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3322189	NM_020126.5(SPHK2):c.937G>A (p.Gly313Ser)	SPHK2 (G107S +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3322188	NM_020126.5(SPHK2):c.382C>T (p.Arg128Trp)	SPHK2 (R92W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3322187	NM_020126.5(SPHK2):c.1761G>A (p.Met587Ile)	SPHK2 (M381I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322186	NM_020126.5(SPHK2):c.112G>A (p.Ala38Thr)	SPHK2 (A38T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3169038	NM_020126.5(SPHK2):c.864G>C (p.Gln288His)	SPHK2 (Q82H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169037	NM_020126.5(SPHK2):c.748C>T (p.Leu250Phe)	SPHK2 (L214F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169036	NM_020126.5(SPHK2):c.558G>T (p.Leu186Phe)	SPHK2 (L127F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3169035	NM_020126.5(SPHK2):c.502G>A (p.Gly168Arg)	SPHK2 (G109R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3169034	NM_020126.5(SPHK2):c.430G>A (p.Glu144Lys)	SPHK2 (E144K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3169033	NM_020126.5(SPHK2):c.311G>A (p.Arg104Gln)	SPHK2 (R104Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3169032	NM_020126.5(SPHK2):c.292T>A (p.Ser98Thr)	SPHK2 (S62T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3169031	NM_020126.5(SPHK2):c.233G>A (p.Arg78Gln)	SPHK2 (R42Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3169030	NM_020126.5(SPHK2):c.212C>T (p.Ser71Leu)	SPHK2 (S71L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3169029	NM_020126.5(SPHK2):c.1904T>C (p.Met635Thr)	SPHK2 (M429T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169028	NM_020126.5(SPHK2):c.184G>A (p.Gly62Ser)	SPHK2 (G26S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3169027	NM_020126.5(SPHK2):c.1540G>T (p.Gly514Cys)	SPHK2 (G308C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169026	NM_020126.5(SPHK2):c.1525G>C (p.Gly509Arg)	SPHK2 (G303R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169024	NM_020126.5(SPHK2):c.146C>T (p.Pro49Leu)	SPHK2 (P13L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3169023	NM_020126.5(SPHK2):c.1469C>T (p.Ala490Val)	SPHK2 (A284V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169022	NM_020126.5(SPHK2):c.125C>T (p.Pro42Leu)	SPHK2 (P6L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3169021	NM_020126.5(SPHK2):c.1250A>T (p.His417Leu)	SPHK2 (H381L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169020	NM_020126.5(SPHK2):c.1226C>T (p.Pro409Leu)	SPHK2 (P350L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169019	NM_020126.5(SPHK2):c.10C>A (p.His4Asn)	SPHK2 (H4N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062398	GRCh37/hg19 19q13.33-13.41(chr19:48905537-51614930)x3	ACP4, ADM5 +118 more	Copy number gain	not specified	GLikely pathogenic
Select item 2681563	NM_020126.5(SPHK2):c.1683C>T (p.Phe561=)	SPHK2	Single nucleotide variant (synonymous variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2650214	NM_020126.5(SPHK2):c.1245C>T (p.Pro415=)	SPHK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650213	NM_020126.5(SPHK2):c.249T>G (p.Pro83=)	SPHK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2650212	NM_020126.5(SPHK2):c.60C>T (p.Thr20=)	SPHK2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2619418	NM_020126.5(SPHK2):c.1660G>C (p.Val554Leu)	SPHK2 (V518L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598929	NM_020126.5(SPHK2):c.190C>T (p.Arg64Cys)	SPHK2 (R28C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558961	NM_020126.5(SPHK2):c.1336C>G (p.Leu446Val)	SPHK2 (L410V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554271	NM_020126.5(SPHK2):c.977G>T (p.Gly326Val)	SPHK2 (G120V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549661	NM_020126.5(SPHK2):c.980C>T (p.Ser327Phe)	SPHK2 (S268F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494418	NM_020126.5(SPHK2):c.728C>T (p.Thr243Met)	SPHK2 (T243M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484855	NM_020126.5(SPHK2):c.421G>T (p.Ala141Ser)	SPHK2 (A105S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478705	NM_020126.5(SPHK2):c.1634C>T (p.Ser545Leu)	SPHK2 (S339L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459078	NM_020126.5(SPHK2):c.386G>A (p.Arg129His)	SPHK2 (R129H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2409849	NM_020126.5(SPHK2):c.1400C>G (p.Pro467Arg)	SPHK2 (P408R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400558	NM_020126.5(SPHK2):c.1099G>A (p.Ala367Thr)	SPHK2 (A161T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388517	NM_020126.5(SPHK2):c.263G>A (p.Arg88Gln)	SPHK2 (R52Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387780	NM_020126.5(SPHK2):c.1484C>T (p.Pro495Leu)	SPHK2 (P436L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384958	NM_020126.5(SPHK2):c.262C>T (p.Arg88Trp)	SPHK2 (R29W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379272	NM_020126.5(SPHK2):c.578G>A (p.Arg193Gln)	SPHK2 (R157Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360274	NM_020126.5(SPHK2):c.452A>C (p.Gln151Pro)	SPHK2 (Q115P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356641	NM_020126.5(SPHK2):c.811G>A (p.Val271Met)	SPHK2 (V212M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350424	NM_020126.5(SPHK2):c.1711G>T (p.Val571Leu)	SPHK2 (V512L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340110	NM_020126.5(SPHK2):c.1508C>T (p.Thr503Ile)	SPHK2 (T503I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338018	NM_020126.5(SPHK2):c.766G>A (p.Gly256Arg)	SPHK2 (G256R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322004	NM_020126.5(SPHK2):c.317G>A (p.Arg106His)	SPHK2 (R47H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312446	NM_020126.5(SPHK2):c.536G>A (p.Arg179Gln)	SPHK2 (R179Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286460	NM_020126.5(SPHK2):c.277C>G (p.Pro93Ala)	SPHK2 (P34A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286119	NM_020126.5(SPHK2):c.884C>T (p.Ala295Val)	SPHK2 (A236V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279531	NM_020126.5(SPHK2):c.209C>T (p.Thr70Ile)	SPHK2 (T70I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268521	NM_020126.5(SPHK2):c.1711G>C (p.Val571Leu)	SPHK2 (V365L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264550	NM_020126.5(SPHK2):c.77G>C (p.Gly26Ala)	SPHK2 (G26A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2257491	NM_020126.5(SPHK2):c.1849G>A (p.Gly617Ser)	SPHK2 (G617S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251404	NM_020126.5(SPHK2):c.14T>C (p.Leu5Pro)	SPHK2 (L5P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245581	NM_020126.5(SPHK2):c.1219C>T (p.Pro407Ser)	SPHK2 (P201S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243229	NM_020126.5(SPHK2):c.1897G>A (p.Ala633Thr)	SPHK2 (A574T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224614	NM_020126.5(SPHK2):c.545G>A (p.Arg182Gln)	SPHK2 (R182Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212598	NM_020126.5(SPHK2):c.226A>C (p.Ile76Leu)	SPHK2 (I17L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210265	NM_020126.5(SPHK2):c.1466G>C (p.Gly489Ala)	SPHK2 (G489A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209671	NM_020126.5(SPHK2):c.983G>A (p.Arg328His)	SPHK2 (R122H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	PPP1R15A, PPP2R1A +308 more	Copy number gain	not provided	GPathogenic
Select item 980767	GRCh37/hg19 19q13.33(chr19:48854319-49430535)x3	BCAT2, CA11 +26 more	Copy number gain	not provided	GLikely pathogenic
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	GRIN2D, GRWD1 +228 more	Copy number gain	not provided	Gnot provided
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
Select item 781746	NM_020126.5(SPHK2):c.1590C>G (p.Asp530Glu)	SPHK2 (D324E +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 778172	NM_020126.5(SPHK2):c.1510C>T (p.Pro504Ser)	SPHK2 (P468S +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 747666	NM_020126.5(SPHK2):c.1311G>A (p.Ser437=)	SPHK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 739788	NM_020126.5(SPHK2):c.735G>C (p.Ser245=)	SPHK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 730358	NM_020126.5(SPHK2):c.445G>A (p.Glu149Lys)	SPHK2 (E113K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 723906	NM_020126.5(SPHK2):c.1140C>T (p.Pro380=)	SPHK2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 719580	NM_020126.5(SPHK2):c.747G>T (p.Leu249=)	SPHK2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 718292	NM_020126.5(SPHK2):c.1961C>A (p.Pro654His)	SPHK2 (P448H +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 709706	NM_020126.5(SPHK2):c.1516G>T (p.Ala506Ser)	SPHK2 (A300S +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 688109	GRCh37/hg19 19q13.33(chr19:48119589-49595956)x3	HSD17B14, IZUMO1 +58 more	Copy number gain	not provided	GUncertain significance
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
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 146386	GRCh38/hg38 19q13.33(chr19:48577651-48839042)x3	BCAT2, CA11 +45 more	Copy number gain	See cases	GUncertain significance
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59115	GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3	LOC130064822, LOC130064823 +290 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 88