29889[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	EEF2KMT, ELOB +917 more	Copy number gain	See cases	GPathogenic
Select item 147509	GRCh38/hg38 16p13.3(chr16:46766-4247185)x3	LOC125146383, LOC125146384 +556 more	Copy number gain	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	ABAT, ABCA3 +843 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	ABAT, ABCA3 +926 more	Copy number gain	See cases	GPathogenic
Select item 58620	GRCh38/hg38 16p13.3(chr16:2717952-4041020)x3	ADCY9, BICDL2 +180 more	Copy number gain	See cases	GPathogenic
Select item 59428	GRCh38/hg38 16p13.3(chr16:2850734-7110697)x1	ADCY9, ALG1 +262 more	Copy number loss	See cases	GPathogenic
Select item 151030	GRCh38/hg38 16p13.3(chr16:3061267-3666094)x3	C16orf90, CLUAP1 +101 more	Copy number gain	See cases	GUncertain significance
Select item 149298	GRCh38/hg38 16p13.3(chr16:3303551-3965374)x3	ADCY9, C16orf90 +50 more	Copy number gain	See cases	GLikely pathogenic
Select item 58621	GRCh38/hg38 16p13.3(chr16:3493167-3993345)x3	ADCY9, C16orf90 +29 more	Copy number gain	See cases	GPathogenic
Select item 2499642	GRCh38/hg38 16p13.3(chr16:3499966-3774794)	CLUAP1, CREBBP +18 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 152247	GRCh38/hg38 16p13.3(chr16:3515534-3749385)x3	CLUAP1, CREBBP +15 more	Copy number gain	See cases	GUncertain significance
Select item 103374	NM_178844.4(NLRC3):c.*2C>T	NLRC3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	Gnot provided
Select item 2379430	NM_178844.4(NLRC3):c.3137G>A (p.Gly1046Glu)	NLRC3 (G1046E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 102958	NM_178844.4(NLRC3):c.2940-184G>T	NLRC3	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 102959	NM_178844.4(NLRC3):c.2938G>A (p.Asp980Asn)	NLRC3 (D980N)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 2267133	NM_178844.4(NLRC3):c.2812G>A (p.Val938Met)	NLRC3 (V938M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 103373	NM_178844.4(NLRC3):c.2787C>T (p.Ala929=)	NLRC3	Single nucleotide variant (synonymous variant +1 more)	not provided	Gnot provided
Select item 132884	NM_178844.4(NLRC3):c.2772-51A>G	NLRC3	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103371	NM_178844.3(NLRC3):c.2757C>T (p.Ser919=)	NLRC3	Single nucleotide variant (synonymous variant +1 more)	not provided	Gnot provided
Select item 103372	NM_178844.4(NLRC3):c.2717C>T (p.Ala906Val)	NLRC3 (A906V)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 2646106	NM_178844.4(NLRC3):c.2716G>A (p.Ala906Thr)	NLRC3 (A906T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 102960	NM_178844.4(NLRC3):c.2687+86C>G	LOC130058342, NLRC3	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 102961	NM_178844.4(NLRC3):c.2630A>C (p.Gln877Pro)	NLRC3 (Q877P)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 102962	NM_178844.4(NLRC3):c.2583C>G (p.Asn861Lys)	NLRC3 (N861K)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 103370	NM_178844.4(NLRC3):c.2526A>G (p.Arg842=)	NLRC3	Single nucleotide variant (synonymous variant +1 more)	not provided	Gnot provided
Select item 2483789	NM_178844.4(NLRC3):c.2422C>G (p.Leu808Val)	NLRC3 (L808V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283150	NM_178844.4(NLRC3):c.2287G>A (p.Gly763Arg)	NLRC3 (G763R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395819	NM_178844.4(NLRC3):c.2230G>A (p.Glu744Lys)	NLRC3 (E744K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358303	NM_178844.4(NLRC3):c.2219G>C (p.Arg740Thr)	NLRC3 (R740T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483042	NM_178844.4(NLRC3):c.2191G>A (p.Gly731Ser)	NLRC3 (G731S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 103368	NM_178844.4(NLRC3):c.2184-248T>G	NLRC3	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103369	NM_178844.4(NLRC3):c.2184-293G>C	NLRC3	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103367	NM_178844.4(NLRC3):c.2183+374G>C	NLRC3	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103366	NM_178844.4(NLRC3):c.2183+249C>T	NLRC3	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 2412125	NM_178844.4(NLRC3):c.2173A>G (p.Thr725Ala)	NLRC3 (T725A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2254521	NM_178844.4(NLRC3):c.2165G>A (p.Arg722His)	NLRC3 (R722H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200471	NM_178844.4(NLRC3):c.2164C>T (p.Arg722Cys)	NLRC3 (R722C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311566	NM_178844.4(NLRC3):c.2164C>G (p.Arg722Gly)	NLRC3 (R722G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298346	NM_178844.4(NLRC3):c.2157G>T (p.Lys719Asn)	NLRC3 (K719N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475073	NM_178844.4(NLRC3):c.2138C>A (p.Ala713Glu)	NLRC3 (A713E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 103365	NM_178844.4(NLRC3):c.2100-49C>A	NLRC3	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 3200468	NM_178844.4(NLRC3):c.2069T>C (p.Leu690Pro)	NLRC3 (L690P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 103364	NM_178844.4(NLRC3):c.2016-3C>T	NLRC3	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 148879	GRCh38/hg38 16p13.3(chr16:3560564-4266796)x1	ADCY9, CREBBP +35 more	Copy number loss	See cases	GPathogenic
Select item 3299977	NM_178844.4(NLRC3):c.1999C>A (p.Arg667Ser)	NLRC3 (R667S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299983	NM_178844.4(NLRC3):c.1953C>A (p.Asp651Glu)	NLRC3 (D651E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 103363	NM_178844.4(NLRC3):c.1929-115C>G	NLRC3	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103362	NM_178844.4(NLRC3):c.1928+186T>C	NLRC3	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103361	NM_178844.4(NLRC3):c.1928+163T>C	NLRC3	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103360	NM_178844.4(NLRC3):c.1882G>A (p.Val628Ile)	NLRC3 (V628I)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 103359	NM_178844.4(NLRC3):c.1870C>T (p.Leu624Phe)	NLRC3 (L624F)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 2509674	NM_178844.4(NLRC3):c.1837G>T (p.Ala613Ser)	NLRC3 (A613S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200467	NM_178844.4(NLRC3):c.1823T>C (p.Leu608Pro)	NLRC3 (L608P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200466	NM_178844.4(NLRC3):c.1808C>T (p.Ala603Val)	NLRC3 (A603V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200465	NM_178844.4(NLRC3):c.1789G>A (p.Gly597Ser)	NLRC3 (G597S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 103357	NM_178844.4(NLRC3):c.1782G>A (p.Arg594=)	NLRC3	Single nucleotide variant (synonymous variant +1 more)	not provided	Gnot provided
Select item 3200464	NM_178844.4(NLRC3):c.1738G>T (p.Ala580Ser)	NLRC3 (A580S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302495	NM_178844.4(NLRC3):c.1732G>C (p.Glu578Gln)	NLRC3 (E578Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299980	NM_178844.4(NLRC3):c.1688G>A (p.Arg563Gln)	NLRC3 (R563Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2576365	NM_178844.4(NLRC3):c.1672G>A (p.Ala558Thr)	NLRC3 (A558T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254605	NM_178844.4(NLRC3):c.1663C>T (p.Arg555Cys)	NLRC3 (R555C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299986	NM_178844.4(NLRC3):c.1657T>G (p.Cys553Gly)	NLRC3 (C553G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244344	NM_178844.4(NLRC3):c.1636G>A (p.Val546Met)	NLRC3 (V546M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200463	NM_178844.4(NLRC3):c.1627C>T (p.Arg543Trp)	NLRC3 (R543W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2646107	NM_178844.4(NLRC3):c.1611C>T (p.Gly537=)	NLRC3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2618015	NM_178844.4(NLRC3):c.1595C>T (p.Ser532Phe)	NLRC3 (S532F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299978	NM_178844.4(NLRC3):c.1591G>A (p.Gly531Ser)	NLRC3 (G531S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270526	NM_178844.4(NLRC3):c.1588G>A (p.Ala530Thr)	NLRC3 (A530T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 103356	NM_178844.4(NLRC3):c.1581C>T (p.Ala527=)	NLRC3	Single nucleotide variant (synonymous variant +1 more)	not provided	Gnot provided
Select item 2555012	NM_178844.4(NLRC3):c.1580C>T (p.Ala527Val)	NLRC3 (A527V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200462	NM_178844.4(NLRC3):c.1577A>G (p.Asn526Ser)	NLRC3 (N526S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200461	NM_178844.4(NLRC3):c.1555G>A (p.Gly519Ser)	NLRC3 (G519S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200459	NM_178844.4(NLRC3):c.1550T>C (p.Leu517Pro)	NLRC3 (L517P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 103355	NM_178844.4(NLRC3):c.1487G>A (p.Arg496Lys)	NLRC3 (R496K)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3200458	NM_178844.4(NLRC3):c.1472T>C (p.Phe491Ser)	NLRC3 (F491S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2624070	NM_178844.4(NLRC3):c.1408G>C (p.Ala470Pro)	NLRC3 (A470P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 103354	NM_178844.4(NLRC3):c.1408G>A (p.Ala470Thr)	NLRC3 (A470T)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 2646108	NM_178844.4(NLRC3):c.1341G>A (p.Ser447=)	NLRC3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2552106	NM_178844.4(NLRC3):c.1340C>T (p.Ser447Leu)	NLRC3 (S447L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234422	NM_178844.4(NLRC3):c.1325A>G (p.Glu442Gly)	NLRC3 (E442G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455935	NM_178844.4(NLRC3):c.1322G>A (p.Arg441Lys)	NLRC3 (R441K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 735532	NM_178844.4(NLRC3):c.1321A>G (p.Arg441Gly)	NLRC3 (R441G)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3200457	NM_178844.4(NLRC3):c.1268T>C (p.Phe423Ser)	NLRC3 (F423S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368160	NM_178844.4(NLRC3):c.1258A>G (p.Met420Val)	NLRC3 (M420V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 785520	NM_178844.4(NLRC3):c.1218T>C (p.His406=)	NLRC3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3200456	NM_178844.4(NLRC3):c.1196C>T (p.Thr399Ile)	NLRC3 (T399I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272065	NM_178844.4(NLRC3):c.1162C>G (p.Gln388Glu)	NLRC3 (Q388E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299979	NM_178844.4(NLRC3):c.1158C>G (p.Ile386Met)	NLRC3 (I386M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381626	NM_178844.4(NLRC3):c.1112C>T (p.Ala371Val)	NLRC3 (A371V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299981	NM_178844.4(NLRC3):c.1111G>A (p.Ala371Thr)	NLRC3 (A371T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359242	NM_178844.4(NLRC3):c.1040C>T (p.Thr347Met)	NLRC3 (T347M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206276	NM_178844.4(NLRC3):c.1030C>T (p.Arg344Cys)	NLRC3 (R344C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595200	NM_178844.4(NLRC3):c.1004C>T (p.Thr335Met)	NLRC3 (T335M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2389027	NM_178844.4(NLRC3):c.980C>G (p.Thr327Ser)	NLRC3 (T327S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338659	NM_178844.4(NLRC3):c.917A>C (p.Gln306Pro)	NLRC3 (Q306P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 768745	NM_178844.4(NLRC3):c.879G>T (p.Glu293Asp)	NLRC3 (E293D)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 768746	NM_178844.4(NLRC3):c.858C>G (p.Ile286Met)	NLRC3 (I286M)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3200481	NM_178844.4(NLRC3):c.851C>T (p.Thr284Met)	NLRC3 (T284M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299982	NM_178844.4(NLRC3):c.815C>G (p.Ser272Cys)	NLRC3 (S272C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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