ClinVar for Gene (Select 23274) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3145602	NM_015226.3(CLEC16A):c.835C>T (p.Leu279Phe)	CLEC16A (L277F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145601	NM_015226.3(CLEC16A):c.794A>G (p.Asn265Ser)	CLEC16A (N263S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145600	NM_015226.3(CLEC16A):c.613C>G (p.Gln205Glu)	CLEC16A (Q203E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145599	NM_015226.3(CLEC16A):c.612C>A (p.Asn204Lys)	CLEC16A (N202K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145598	NM_015226.3(CLEC16A):c.3151G>A (p.Ala1051Thr)	CLEC16A (A1049T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3145597	NM_015226.3(CLEC16A):c.3139C>T (p.Pro1047Ser)	CLEC16A (P1047S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145596	NM_015226.3(CLEC16A):c.3055C>T (p.Arg1019Cys)	CLEC16A (R1017C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145595	NM_015226.3(CLEC16A):c.3035C>A (p.Pro1012Gln)	CLEC16A (P1010Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145594	NM_015226.3(CLEC16A):c.2873C>T (p.Thr958Met)	CLEC16A (T956M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145593	NM_015226.3(CLEC16A):c.2782C>G (p.Pro928Ala)	CLEC16A (P926A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145592	NM_015226.3(CLEC16A):c.2675G>C (p.Ser892Thr)	CLEC16A (S892T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145591	NM_015226.3(CLEC16A):c.2650G>A (p.Val884Met)	CLEC16A (V882M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145590	NM_015226.3(CLEC16A):c.2631C>G (p.Asp877Glu)	CLEC16A (D877E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145589	NM_015226.3(CLEC16A):c.2614G>A (p.Val872Met)	CLEC16A (V854M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145588	NM_015226.3(CLEC16A):c.2594A>T (p.Asp865Val)	CLEC16A (D847V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145586	NM_015226.3(CLEC16A):c.2587A>G (p.Ser863Gly)	CLEC16A (S863G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145585	NM_015226.3(CLEC16A):c.2450G>T (p.Arg817Leu)	CLEC16A (R799L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145584	NM_015226.3(CLEC16A):c.2053G>A (p.Glu685Lys)	CLEC16A (E683K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145583	NM_015226.3(CLEC16A):c.1853A>G (p.Tyr618Cys)	CLEC16A (Y600C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145582	NM_015226.3(CLEC16A):c.1802G>A (p.Arg601Gln)	CLEC16A (R599Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145581	NM_015226.3(CLEC16A):c.1725G>A (p.Met575Ile)	CLEC16A (M575I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145579	NM_015226.3(CLEC16A):c.1682C>T (p.Thr561Met)	CLEC16A (T559M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145578	NM_015226.3(CLEC16A):c.1679C>T (p.Ala560Val)	CLEC16A (A558V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145577	NM_015226.3(CLEC16A):c.1556T>C (p.Leu519Ser)	CLEC16A (L501S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145576	NM_015226.3(CLEC16A):c.1517A>G (p.Tyr506Cys)	CLEC16A (Y504C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145575	NM_015226.3(CLEC16A):c.1490A>G (p.His497Arg)	CLEC16A (H495R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145574	NM_015226.3(CLEC16A):c.1352C>G (p.Ala451Gly)	CLEC16A (A433G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145573	NM_015226.3(CLEC16A):c.133A>C (p.Asn45His)	CLEC16A (N45H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145572	NM_015226.3(CLEC16A):c.1330A>G (p.Ser444Gly)	CLEC16A (S442G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145571	NM_015226.3(CLEC16A):c.1321A>G (p.Met441Val)	CLEC16A (M423V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145570	NM_015226.3(CLEC16A):c.1073C>T (p.Ala358Val)	CLEC16A (A356V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646209	NM_015226.3(CLEC16A):c.2526C>T (p.Leu842=)	CLEC16A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2646208	NM_015226.3(CLEC16A):c.2073T>G (p.Thr691=)	CLEC16A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2646207	NM_015226.3(CLEC16A):c.982C>A (p.Pro328Thr)	CLEC16A (P326T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2646206	NM_015226.3(CLEC16A):c.93C>T (p.His31=)	CLEC16A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2617761	NM_015226.3(CLEC16A):c.1088G>A (p.Arg363Gln)	CLEC16A (R361Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612532	NM_015226.3(CLEC16A):c.2296G>A (p.Asp766Asn)	CLEC16A (D766N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611007	NM_015226.3(CLEC16A):c.2228G>T (p.Arg743Met)	CLEC16A (R741M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601899	NM_015226.3(CLEC16A):c.2716G>A (p.Gly906Arg)	CLEC16A (G906R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598272	NM_015226.3(CLEC16A):c.2560C>T (p.Arg854Cys)	CLEC16A (R852C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595157	NM_015226.3(CLEC16A):c.2771C>T (p.Ser924Leu)	CLEC16A (S924L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569794	NM_015226.3(CLEC16A):c.908G>A (p.Gly303Glu)	CLEC16A (G301E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540238	NM_015226.3(CLEC16A):c.1465C>A (p.Leu489Met)	CLEC16A (L471M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538746	NM_015226.3(CLEC16A):c.1157G>A (p.Arg386Gln)	CLEC16A (R386Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521859	NM_015226.3(CLEC16A):c.3101G>A (p.Cys1034Tyr)	CLEC16A (C1032Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520230	NM_015226.3(CLEC16A):c.1613C>T (p.Pro538Leu)	CLEC16A (P520L +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2515711	NM_015226.3(CLEC16A):c.3070A>G (p.Met1024Val)	CLEC16A (M1022V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489198	NM_015226.3(CLEC16A):c.224A>G (p.Lys75Arg)	CLEC16A (K75R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471810	NM_015226.3(CLEC16A):c.1658C>A (p.Pro553Gln)	CLEC16A (P553Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468787	NM_015226.3(CLEC16A):c.1121G>A (p.Arg374Gln)	CLEC16A (R372Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454887	NM_015226.3(CLEC16A):c.3089C>T (p.Pro1030Leu)	CLEC16A (P1028L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2423419	NC_000016.9:g.(?_8829597)_(11683693_?)dup	ABAT, ATF7IP2 +20 more	Duplication	Landau-Kleffner syndrome	GUncertain significance
Select item 2412075	NM_015226.3(CLEC16A):c.2320A>G (p.Ile774Val)	CLEC16A (I774V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385905	NM_015226.3(CLEC16A):c.1051C>G (p.Gln351Glu)	CLEC16A (Q351E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380060	NM_015226.3(CLEC16A):c.1648G>A (p.Ala550Thr)	CLEC16A (A532T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376913	NM_015226.3(CLEC16A):c.1368G>C (p.Gln456His)	CLEC16A (Q454H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376617	NM_015226.3(CLEC16A):c.2527G>A (p.Gly843Ser)	CLEC16A (G841S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376548	NM_015226.3(CLEC16A):c.46A>G (p.Thr16Ala)	CLEC16A (T16A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369489	NM_015226.3(CLEC16A):c.811A>C (p.Asn271His)	CLEC16A (N271H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362068	NM_015226.3(CLEC16A):c.1699C>G (p.Leu567Val)	CLEC16A (L549V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332056	NM_015226.3(CLEC16A):c.757C>G (p.Leu253Val)	CLEC16A (L253V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318546	NM_015226.3(CLEC16A):c.3086C>T (p.Thr1029Met)	CLEC16A (T1027M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316888	NM_015226.3(CLEC16A):c.2759G>A (p.Gly920Glu)	CLEC16A (G918E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302294	NM_015226.3(CLEC16A):c.1112C>T (p.Thr371Ile)	CLEC16A (T371I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294352	NM_015226.3(CLEC16A):c.1954G>A (p.Val652Met)	CLEC16A (V634M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292224	NM_015226.3(CLEC16A):c.2671C>T (p.His891Tyr)	CLEC16A (H891Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277560	NM_015226.3(CLEC16A):c.2933G>A (p.Ser978Asn)	CLEC16A (S976N +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2276717	NM_015226.3(CLEC16A):c.1999A>G (p.Ile667Val)	CLEC16A (I649V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270767	NM_015226.3(CLEC16A):c.1526C>G (p.Ser509Cys)	CLEC16A (S507C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266959	NM_015226.3(CLEC16A):c.3067G>A (p.Gly1023Ser)	CLEC16A (G1021S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264413	NM_015226.3(CLEC16A):c.2291A>T (p.Glu764Val)	CLEC16A (E746V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256553	NM_015226.3(CLEC16A):c.2574G>T (p.Gln858His)	CLEC16A (Q856H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255124	NM_015226.3(CLEC16A):c.614A>C (p.Gln205Pro)	CLEC16A (Q203P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254966	NM_015226.3(CLEC16A):c.961T>G (p.Phe321Val)	CLEC16A (F319V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253470	NM_015226.3(CLEC16A):c.2905G>T (p.Ala969Ser)	CLEC16A (A967S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240310	NM_015226.3(CLEC16A):c.1939A>T (p.Thr647Ser)	CLEC16A (T647S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215671	NM_015226.3(CLEC16A):c.2311A>C (p.Asn771His)	CLEC16A (N753H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215496	NM_015226.3(CLEC16A):c.2582G>A (p.Arg861Gln)	CLEC16A (R861Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205036	NM_015226.3(CLEC16A):c.2869G>A (p.Glu957Lys)	CLEC16A (E955K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809030	GRCh37/hg19 16p13.2-13.13(chr16:10423631-12176517)x3	CIITA, ATF7IP2 +21 more	Copy number gain	not provided	GUncertain significance
Select item 1807793	GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3	ABAT, ABCC1 +226 more	Copy number gain	not provided	GPathogenic
Select item 1480512	NC_000016.9:g.(?_8829597)_(11650586_?)dup	PRM2, PRM3 +20 more	Duplication	MHC class II deficiency +1 more	GUncertain significance
Select item 983281	GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3	ABAT, ABCC1 +252 more	Copy number gain	See cases	GPathogenic
Select item 815792	GRCh37/hg19 16p13.13(chr16:11062391-11185195)x1	CLEC16A	Copy number loss	not provided	GUncertain significance
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	GPathogenic
Select item 788712	NM_015226.3(CLEC16A):c.2945G>A (p.Ser982Asn)	CLEC16A (S982N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 779451	NM_015226.3(CLEC16A):c.1424C>T (p.Thr475Met)	CLEC16A (T457M +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 776976	NM_015226.3(CLEC16A):c.2842C>T (p.Leu948Phe)	CLEC16A (L948F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 740046	NM_015226.3(CLEC16A):c.1287G>A (p.Thr429=)	CLEC16A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 719993	NM_015226.3(CLEC16A):c.2675G>A (p.Ser892Asn)	CLEC16A (S892N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 711595	NM_015226.3(CLEC16A):c.1296G>A (p.Glu432=)	CLEC16A	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 685913	GRCh37/hg19 16p13.13(chr16:11124777-11387164)x1	CLEC16A, PRM1 +4 more	Copy number loss	not provided	GUncertain significance
Select item 564270	GRCh37/hg19 16p13.13(chr16:10529891-11889585)x3	LITAF, ZC3H7A +16 more	Copy number gain	not provided	GUncertain significance
Select item 564254	GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3	ABAT, ABCA3 +206 more	Copy number gain	not provided	GPathogenic
Select item 443183	GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3	ABAT, ABCA3 +295 more	Copy number gain	See cases	GPathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	AARS1, ABCC1 +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	ZC3H7A, ZCCHC14 +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 442872	GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3	PRSS27, PRSS33 +263 more	Copy number gain	See cases	GPathogenic
Select item 442605	GRCh37/hg19 16p13.13(chr16:10519916-11249329)x3	ATF7IP2, CIITA +6 more	Copy number gain	See cases	GLikely benign

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