ClinVar for Gene (Select 6614) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3318472	NM_023068.4(SIGLEC1):c.1423C>A (p.Arg475Ser)	SIGLEC1 (R475S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318471	NM_023068.4(SIGLEC1):c.911C>G (p.Thr304Ser)	SIGLEC1 (T304S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318470	NM_023068.4(SIGLEC1):c.1534C>T (p.Arg512Cys)	SIGLEC1 (R512C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318469	NM_023068.4(SIGLEC1):c.4044C>A (p.Asp1348Glu)	SIGLEC1 (D1348E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318468	NM_023068.4(SIGLEC1):c.208G>A (p.Val70Met)	SIGLEC1 (V70M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318467	NM_023068.4(SIGLEC1):c.4016C>T (p.Ala1339Val)	SIGLEC1 (A1339V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318465	NM_023068.4(SIGLEC1):c.3071T>C (p.Val1024Ala)	SIGLEC1 (V1024A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318464	NM_023068.4(SIGLEC1):c.2159A>G (p.Gln720Arg)	SIGLEC1 (Q720R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318463	NM_023068.4(SIGLEC1):c.4646G>A (p.Arg1549Gln)	SIGLEC1 (R1549Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3318462	NM_023068.4(SIGLEC1):c.3784C>T (p.Arg1262Trp)	SIGLEC1 (R1262W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318461	NM_023068.4(SIGLEC1):c.3518G>A (p.Arg1173His)	SIGLEC1 (R1173H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318460	NM_023068.4(SIGLEC1):c.2670C>G (p.Phe890Leu)	SIGLEC1 (F890L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318459	NM_023068.4(SIGLEC1):c.1126C>T (p.Arg376Trp)	SIGLEC1 (R376W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248364	NC_000020.10:g.(?_2361615)_(3903941_?)dup	ADAM33, ADISSP +36 more	Duplication	not provided	GUncertain significance
Select item 3248273	NC_000020.10:g.(?_3190198)_(6760201_?)del	DNAAF9, FERMT1 +35 more	Deletion	Inosine triphosphatase deficiency	GPathogenic
Select item 3162130	NM_023068.4(SIGLEC1):c.904G>A (p.Val302Ile)	SIGLEC1 (V302I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162129	NM_023068.4(SIGLEC1):c.5075T>C (p.Ile1692Thr)	SIGLEC1 (I1692T)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 3162128	NM_023068.4(SIGLEC1):c.4643T>A (p.Leu1548His)	SIGLEC1 (L1548H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162127	NM_023068.4(SIGLEC1):c.4522A>C (p.Met1508Leu)	SIGLEC1 (M1508L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3162126	NM_023068.4(SIGLEC1):c.4460G>A (p.Arg1487Gln)	SIGLEC1 (R1487Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3162125	NM_023068.4(SIGLEC1):c.440C>T (p.Pro147Leu)	SIGLEC1 (P147L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162124	NM_023068.4(SIGLEC1):c.437C>A (p.Ser146Tyr)	SIGLEC1 (S146Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162123	NM_023068.4(SIGLEC1):c.3973C>G (p.Gln1325Glu)	SIGLEC1 (Q1325E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162122	NM_023068.4(SIGLEC1):c.3815C>A (p.Pro1272His)	SIGLEC1 (P1272H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162121	NM_023068.4(SIGLEC1):c.371G>A (p.Arg124His)	SIGLEC1 (R124H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162120	NM_023068.4(SIGLEC1):c.3526C>T (p.Arg1176Cys)	SIGLEC1 (R1176C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162119	NM_023068.4(SIGLEC1):c.3512C>T (p.Ala1171Val)	SIGLEC1 (A1171V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162118	NM_023068.4(SIGLEC1):c.3506T>C (p.Leu1169Pro)	SIGLEC1 (L1169P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162117	NM_023068.4(SIGLEC1):c.3476G>A (p.Arg1159His)	SIGLEC1 (R1159H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3162116	NM_023068.4(SIGLEC1):c.3475C>A (p.Arg1159Ser)	SIGLEC1 (R1159S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162115	NM_023068.4(SIGLEC1):c.3466C>T (p.Arg1156Trp)	SIGLEC1 (R1156W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162114	NM_023068.4(SIGLEC1):c.3104A>C (p.Glu1035Ala)	SIGLEC1 (E1035A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3162113	NM_023068.4(SIGLEC1):c.3024C>G (p.Asp1008Glu)	SIGLEC1 (D1008E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162112	NM_023068.4(SIGLEC1):c.3023A>T (p.Asp1008Val)	SIGLEC1 (D1008V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162111	NM_023068.4(SIGLEC1):c.3017G>T (p.Arg1006Leu)	SIGLEC1 (R1006L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162110	NM_023068.4(SIGLEC1):c.2846C>T (p.Ala949Val)	SIGLEC1 (A949V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162109	NM_023068.4(SIGLEC1):c.276C>A (p.Asn92Lys)	SIGLEC1 (N92K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162108	NM_023068.4(SIGLEC1):c.2731G>A (p.Ala911Thr)	SIGLEC1 (A911T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162107	NM_023068.4(SIGLEC1):c.268A>G (p.Met90Val)	SIGLEC1 (M90V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3162106	NM_023068.4(SIGLEC1):c.2509G>A (p.Ala837Thr)	SIGLEC1 (A837T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162105	NM_023068.4(SIGLEC1):c.2327T>C (p.Ile776Thr)	SIGLEC1 (I776T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162104	NM_023068.4(SIGLEC1):c.2323C>T (p.Arg775Cys)	SIGLEC1 (R775C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162103	NM_023068.4(SIGLEC1):c.2316C>T (p.Tyr772=)	SIGLEC1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3162102	NM_023068.4(SIGLEC1):c.2197C>T (p.Arg733Trp)	SIGLEC1 (R733W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162101	NM_023068.4(SIGLEC1):c.2170G>A (p.Glu724Lys)	SIGLEC1 (E724K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162100	NM_023068.4(SIGLEC1):c.2165G>A (p.Gly722Asp)	SIGLEC1 (G722D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162098	NM_023068.4(SIGLEC1):c.1727G>A (p.Arg576Gln)	SIGLEC1 (R576Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162097	NM_023068.4(SIGLEC1):c.1662G>T (p.Glu554Asp)	SIGLEC1 (E554D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162096	NM_023068.4(SIGLEC1):c.1531G>T (p.Ala511Ser)	SIGLEC1 (A511S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162095	NM_023068.4(SIGLEC1):c.1028C>T (p.Thr343Ile)	SIGLEC1 (T343I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062409	GRCh37/hg19 20p13(chr20:2640674-4323312)x3	OXT, PANK2 +33 more	Copy number gain	not specified	GUncertain significance
Select item 3024880	NM_023068.4(SIGLEC1):c.3752A>G (p.Asn1251Ser)	SIGLEC1 (N1251S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	THBD, TMC2 +164 more	Copy number gain	not provided	GPathogenic
Select item 3024618	GRCh37/hg19 20p13-12.1(chr20:68351-16142323)x3	TMEM74B, TMX4 +114 more	Copy number gain	not provided	GPathogenic
Select item 2689984	NM_023068.4(SIGLEC1):c.3673C>T (p.Arg1225Cys)	SIGLEC1 (R1225C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684899	GRCh37/hg19 20p13-12.2(chr20:61569-9542361)x3	ADAM33, ADISSP +100 more	Copy number gain	not provided	GPathogenic
Select item 2681545	NM_023068.4(SIGLEC1):c.321C>T (p.Pro107=)	SIGLEC1	Single nucleotide variant (synonymous variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2652187	NM_023068.4(SIGLEC1):c.262G>T (p.Glu88Ter)	SIGLEC1 (E88*)	Single nucleotide variant (nonsense)	not provided	GLikely benign
Select item 2652186	NM_023068.4(SIGLEC1):c.453C>T (p.Leu151=)	SIGLEC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652185	NM_023068.4(SIGLEC1):c.1918G>A (p.Asp640Asn)	SIGLEC1 (D640N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2652184	NM_023068.4(SIGLEC1):c.1962C>T (p.Ser654=)	SIGLEC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652183	NM_023068.4(SIGLEC1):c.3442C>T (p.Arg1148Cys)	SIGLEC1 (R1148C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2652182	NM_023068.4(SIGLEC1):c.3930A>C (p.Ser1310=)	SIGLEC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652181	NM_023068.4(SIGLEC1):c.4163C>A (p.Thr1388Lys)	SIGLEC1 (T1388K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2652180	NM_023068.4(SIGLEC1):c.4311C>T (p.Ile1437=)	SIGLEC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652179	NM_023068.4(SIGLEC1):c.4434C>A (p.Thr1478=)	SIGLEC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652178	NM_023068.4(SIGLEC1):c.4455C>T (p.Asp1485=)	SIGLEC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652177	NM_023068.4(SIGLEC1):c.4468G>A (p.Ala1490Thr)	SIGLEC1 (A1490T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2652176	NM_023068.4(SIGLEC1):c.4532G>A (p.Cys1511Tyr)	SIGLEC1 (C1511Y)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2622890	NM_023068.4(SIGLEC1):c.4444T>C (p.Phe1482Leu)	SIGLEC1 (F1482L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619608	NM_023068.4(SIGLEC1):c.2158C>G (p.Gln720Glu)	SIGLEC1 (Q720E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618583	NM_023068.4(SIGLEC1):c.265T>G (p.Phe89Val)	SIGLEC1 (F89V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614938	NM_023068.4(SIGLEC1):c.1834G>T (p.Ala612Ser)	SIGLEC1 (A612S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612820	NM_023068.4(SIGLEC1):c.1175T>G (p.Val392Gly)	SIGLEC1 (V392G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612668	NM_023068.4(SIGLEC1):c.2017C>T (p.Arg673Cys)	SIGLEC1 (R673C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605764	NM_023068.4(SIGLEC1):c.4007G>A (p.Arg1336His)	SIGLEC1 (R1336H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604953	NM_023068.4(SIGLEC1):c.1811C>T (p.Thr604Ile)	SIGLEC1 (T604I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601639	NM_023068.4(SIGLEC1):c.3283G>A (p.Ala1095Thr)	SIGLEC1 (A1095T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2596547	NM_023068.4(SIGLEC1):c.1691C>T (p.Ala564Val)	SIGLEC1 (A564V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596303	NM_023068.4(SIGLEC1):c.3514C>T (p.Pro1172Ser)	SIGLEC1 (P1172S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594347	NM_023068.4(SIGLEC1):c.4730A>T (p.Gln1577Leu)	SIGLEC1 (Q1577L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594154	NM_023068.4(SIGLEC1):c.1049A>G (p.Asn350Ser)	SIGLEC1 (N350S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591542	NM_023068.4(SIGLEC1):c.1423C>T (p.Arg475Cys)	SIGLEC1 (R475C)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2590582	NM_023068.4(SIGLEC1):c.364G>A (p.Val122Ile)	SIGLEC1 (V122I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590486	NM_023068.4(SIGLEC1):c.4228C>T (p.Arg1410Trp)	SIGLEC1 (R1410W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 2560015	NM_023068.4(SIGLEC1):c.5038G>A (p.Val1680Met)	SIGLEC1 (V1680M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558045	NM_023068.4(SIGLEC1):c.2725G>A (p.Gly909Ser)	SIGLEC1 (G909S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553548	NM_023068.4(SIGLEC1):c.332G>T (p.Gly111Val)	SIGLEC1 (G111V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543904	NM_023068.4(SIGLEC1):c.3443G>A (p.Arg1148His)	SIGLEC1 (R1148H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533579	NM_023068.4(SIGLEC1):c.4508G>A (p.Arg1503His)	SIGLEC1 (R1503H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531459	NM_023068.4(SIGLEC1):c.1492G>A (p.Gly498Arg)	SIGLEC1 (G498R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522141	NM_023068.4(SIGLEC1):c.1787A>G (p.Tyr596Cys)	SIGLEC1 (Y596C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521296	NM_023068.4(SIGLEC1):c.3400A>G (p.Ile1134Val)	SIGLEC1 (I1134V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520964	NM_023068.4(SIGLEC1):c.3886C>T (p.His1296Tyr)	SIGLEC1 (H1296Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519624	NM_023068.4(SIGLEC1):c.3628C>T (p.Arg1210Cys)	SIGLEC1 (R1210C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519249	NM_023068.4(SIGLEC1):c.3863C>G (p.Ala1288Gly)	SIGLEC1 (A1288G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515682	NM_023068.4(SIGLEC1):c.2057T>C (p.Leu686Ser)	SIGLEC1 (L686S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514479	NM_023068.4(SIGLEC1):c.2591G>A (p.Arg864Gln)	SIGLEC1 (R864Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513676	NM_023068.4(SIGLEC1):c.1885G>A (p.Asp629Asn)	SIGLEC1 (D629N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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