ClinVar for Gene (Select 3603) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3170971	NM_181900.3(STARD5):c.513C>G (p.Asn171Lys)	IL16, LOC126862197 +1 more (N171K)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3109123	NM_172217.5(IL16):c.977G>A (p.Cys326Tyr)	IL16 (C377Y +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3109122	NM_172217.5(IL16):c.8C>T (p.Ser3Leu)	IL16 (S3L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3109121	NM_172217.5(IL16):c.823A>G (p.Met275Val)	IL16 (M275V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3109120	NM_172217.5(IL16):c.761C>A (p.Ala254Glu)	IL16 (A254E +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3109119	NM_172217.5(IL16):c.607G>A (p.Val203Met)	IL16 (V33M +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3109118	NM_172217.5(IL16):c.541G>A (p.Asp181Asn)	IL16 (D181N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3109117	NM_172217.5(IL16):c.488A>G (p.Asp163Gly)	IL16 (D214G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3109115	NM_172217.5(IL16):c.3692C>T (p.Thr1231Ile)	IL16 (T1060I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109114	NM_172217.5(IL16):c.3283G>A (p.Glu1095Lys)	IL16 (E1095K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109113	NM_172217.5(IL16):c.3107G>A (p.Gly1036Asp)	IL16 (G866D +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109112	NM_172217.5(IL16):c.292A>G (p.Arg98Gly)	IL16 (R149G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3109111	NM_172217.5(IL16):c.2893C>T (p.Arg965Trp)	IL16 (R965W +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109110	NM_172217.5(IL16):c.2803C>G (p.Pro935Ala)	IL16 (P234A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109109	NM_172217.5(IL16):c.2744G>C (p.Arg915Thr)	IL16 (R305T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109108	NM_172217.5(IL16):c.2458C>T (p.Pro820Ser)	IL16 (P210S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109107	NM_172217.5(IL16):c.2452C>T (p.Pro818Ser)	IL16 (P117S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109106	NM_172217.5(IL16):c.23G>C (p.Gly8Ala)	IL16 (G59A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3109104	NM_172217.5(IL16):c.2184C>G (p.Ile728Met)	IL16 (I118M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109103	NM_172217.5(IL16):c.2101C>T (p.Arg701Trp)	IL16 (R701W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109102	NM_172217.5(IL16):c.2069C>T (p.Pro690Leu)	IL16 (P690L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109100	NM_172217.5(IL16):c.1648C>T (p.Arg550Trp)	IL16 (R550W +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3109099	NM_172217.5(IL16):c.1564G>C (p.Gly522Arg)	IL16 (G352R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3109098	NM_172217.5(IL16):c.1403A>G (p.His468Arg)	IL16 (H468R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3109097	NM_172217.5(IL16):c.1306A>G (p.Ile436Val)	IL16 (I266V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3109096	NM_172217.5(IL16):c.1117G>A (p.Val373Ile)	IL16 (V373I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2684765	GRCh37/hg19 15q25.1(chr15:80208164-81551831)x3	ABHD17C, ARNT2 +10 more	Copy number gain	not provided	GUncertain significance
Select item 2645634	NM_172217.5(IL16):c.3546C>A (p.Leu1182=)	IL16	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2645633	NM_172217.5(IL16):c.2199T>C (p.His733=)	IL16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2615258	NM_172217.5(IL16):c.880C>T (p.Leu294Phe)	IL16 (L124F +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2614242	NM_172217.5(IL16):c.3032G>A (p.Cys1011Tyr)	IL16 (C1011Y +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606867	NM_172217.5(IL16):c.2959C>G (p.Leu987Val)	IL16 (L1038V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598170	NM_172217.5(IL16):c.3089A>T (p.Glu1030Val)	IL16 (E1081V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598024	NM_172217.5(IL16):c.2779C>T (p.Arg927Trp)	IL16 (R757W +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595634	NM_172217.5(IL16):c.905G>A (p.Arg302His)	IL16 (R353H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2580298	GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3	ABHD17C, ABHD2 +174 more	Copy number gain	See cases	GPathogenic
Select item 2553770	NM_172217.5(IL16):c.413A>T (p.Asn138Ile)	IL16 (N189I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2552090	NM_172217.5(IL16):c.1818A>C (p.Lys606Asn)	IL16 (K436N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2551412	NM_172217.5(IL16):c.1291G>A (p.Gly431Ser)	IL16 (G482S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2535659	NM_172217.5(IL16):c.1087G>A (p.Gly363Ser)	IL16 (G193S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2530610	NM_172217.5(IL16):c.2359C>T (p.Pro787Ser)	IL16 (P617S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530570	NM_172217.5(IL16):c.3613G>T (p.Asp1205Tyr)	IL16 (D1035Y +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518717	NM_172217.5(IL16):c.2573G>A (p.Gly858Glu)	IL16 (G248E +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	BLM, BNC1 +209 more	Copy number gain	not provided	GPathogenic
Select item 2490568	NM_172217.5(IL16):c.617C>A (p.Ser206Tyr)	IL16 (S36Y +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2483988	NM_172217.5(IL16):c.694G>A (p.Val232Ile)	IL16 (V232I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2460869	NM_172217.5(IL16):c.1019C>T (p.Ser340Leu)	IL16 (S340L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2411697	NM_172217.5(IL16):c.1210G>A (p.Glu404Lys)	IL16 (E404K +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2395190	NM_172217.5(IL16):c.19G>A (p.Ala7Thr)	IL16 (A58T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2389458	NM_172217.5(IL16):c.2806C>G (p.Pro936Ala)	IL16 (P987A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384042	NM_172217.5(IL16):c.2173T>C (p.Phe725Leu)	IL16 (F24L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384041	NM_172217.5(IL16):c.2091G>C (p.Lys697Asn)	IL16 (K527N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382033	NM_172217.5(IL16):c.1993A>G (p.Ile665Val)	IL16 (I55V +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2372058	NM_172217.5(IL16):c.3844G>T (p.Asp1282Tyr)	IL16 (D1281Y +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370699	NM_172217.5(IL16):c.947C>T (p.Pro316Leu)	IL16 (P316L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2367975	NM_172217.5(IL16):c.772G>T (p.Asp258Tyr)	IL16 (D309Y +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2359420	NM_172217.5(IL16):c.3664G>A (p.Val1222Ile)	IL16 (V1052I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358031	NM_181900.3(STARD5):c.524T>C (p.Phe175Ser)	IL16, LOC126862197 +1 more (F175S)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2357688	NM_172217.5(IL16):c.911C>T (p.Thr304Met)	IL16 (T134M +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2352518	NM_172217.5(IL16):c.1996G>A (p.Gly666Ser)	IL16 (G496S +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2344315	NM_172217.5(IL16):c.3203A>T (p.Asp1068Val)	IL16 (D1068V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338824	NM_172217.5(IL16):c.2222A>T (p.Asn741Ile)	IL16 (N40I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330090	NM_172217.5(IL16):c.3548G>A (p.Arg1183His)	IL16 (R1183H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325389	NM_172217.5(IL16):c.1898G>C (p.Gly633Ala)	IL16 (G463A +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2325118	NM_172217.5(IL16):c.1060G>A (p.Val354Met)	IL16 (V354M +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2318366	NM_172217.5(IL16):c.584G>A (p.Arg195Gln)	IL16 (R25Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2301183	NM_172217.5(IL16):c.29G>T (p.Ser10Ile)	IL16 (S61I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2276595	NM_172217.5(IL16):c.2753G>A (p.Gly918Asp)	IL16 (G217D +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271744	NM_172217.5(IL16):c.1996G>C (p.Gly666Arg)	IL16 (G496R +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2270076	NM_172217.5(IL16):c.2821C>A (p.Leu941Ile)	IL16 (L331I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269796	NM_172217.5(IL16):c.3825T>G (p.Ser1275Arg)	IL16 (S1275R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269021	NM_172217.5(IL16):c.1150G>T (p.Val384Phe)	IL16 (V384F +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2262207	NM_172217.5(IL16):c.2185A>G (p.Met729Val)	IL16 (M729V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260998	NM_172217.5(IL16):c.1036G>T (p.Ala346Ser)	IL16 (A176S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2256649	NM_172217.5(IL16):c.1211A>C (p.Glu404Ala)	IL16 (E234A +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2253053	NM_172217.5(IL16):c.2822T>G (p.Leu941Arg)	IL16 (L240R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244382	NM_172217.5(IL16):c.936C>A (p.His312Gln)	IL16 (H142Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2244219	NM_172217.5(IL16):c.1912G>C (p.Glu638Gln)	IL16 (E689Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239799	NM_172217.5(IL16):c.943C>T (p.Pro315Ser)	IL16 (P315S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2238192	NM_181900.3(STARD5):c.596G>A (p.Arg199Gln)	IL16, LOC126862197 +1 more (R199Q)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2217774	NM_172217.5(IL16):c.2881A>G (p.Ser961Gly)	IL16 (S351G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217773	NM_172217.5(IL16):c.2324A>G (p.Asp775Gly)	IL16 (D605G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211797	NM_172217.5(IL16):c.3125C>T (p.Ala1042Val)	IL16 (A1042V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209817	NM_172217.5(IL16):c.1975G>A (p.Gly659Ser)	IL16 (G710S +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2207686	NM_172217.5(IL16):c.173A>C (p.His58Pro)	IL16 (H109P +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1809424	GRCh37/hg19 15q24.3-26.3(chr15:77512817-102035027)x3	ABHD17C, ABHD2 +139 more	Copy number gain	not provided	GPathogenic
Select item 1807897	GRCh37/hg19 15q25.1-25.2(chr15:79996626-82097796)x1	ABHD17C, ARNT2 +13 more	Copy number loss	not provided	GUncertain significance
Select item 1261119	NM_181900.3(STARD5):c.*3815A>G	IL16, STARD5	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ALDH1A2, ALPK3 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 784328	NM_172217.5(IL16):c.2666G>A (p.Arg889Gln)	IL16 (R279Q +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 779162	NM_172217.5(IL16):c.3222C>T (p.Ser1074=)	IL16	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 770624	NM_172217.5(IL16):c.3079T>A (p.Ser1027Thr)	IL16 (S326T +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 758096	NM_172217.5(IL16):c.3444G>A (p.Gly1148=)	IL16	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 752464	NM_172217.5(IL16):c.2592C>G (p.Leu864=)	IL16	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 717458	NM_172217.5(IL16):c.2814G>A (p.Pro938=)	IL16	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 713502	NM_172217.5(IL16):c.2753G>C (p.Gly918Ala)	IL16 (G217A +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 688687	GRCh37/hg19 15q25.1-25.2(chr15:80728654-84107646)x1	ABHD17C, AP3B2 +22 more	Copy number loss	not provided	GPathogenic
Select item 564224	GRCh37/hg19 15q25.1-25.2(chr15:80955355-82622366)x4	MESD, STARD5 +9 more	Copy number gain	not provided	GUncertain significance
Select item 564223	GRCh37/hg19 15q25.1-25.3(chr15:79023343-87158823)x1,2	ABHD17C, ADAMTS7 +49 more	Copy number gain	not provided	GPathogenic
Select item 564221	GRCh37/hg19 15q24.3-26.3(chr15:77479244-102429112)x3	ABHD17C, ABHD2 +143 more	Copy number gain	not provided	GPathogenic

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