19009[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 1440073	NM_015041.3(CLUAP1):c.1del (p.Met1fs)	CLUAP1, LOC130058340 (M1fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2168508	NM_015041.3(CLUAP1):c.2T>C (p.Met1Thr)	CLUAP1, LOC130058340 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1063460	NM_015041.3(CLUAP1):c.5C>G (p.Ser2Cys)	CLUAP1, LOC130058340 (S2C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1427534	NM_015041.3(CLUAP1):c.8T>C (p.Phe3Ser)	CLUAP1, LOC130058340 (F3S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 964069	NM_015041.3(CLUAP1):c.14_22+16del	CLUAP1, LOC130058340	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 3267933	NM_015041.3(CLUAP1):c.13G>C (p.Asp5His)	CLUAP1, LOC130058340 (D5H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 953622	NM_015041.3(CLUAP1):c.14A>G (p.Asp5Gly)	CLUAP1, LOC130058340 (D5G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1111298	NM_015041.3(CLUAP1):c.15C>T (p.Asp5=)	CLUAP1, LOC130058340	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2416857	NM_015041.3(CLUAP1):c.17T>G (p.Leu6Arg)	CLUAP1, LOC130058340 (L6R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2830863	NM_015041.3(CLUAP1):c.19C>T (p.Arg7Cys)	CLUAP1, LOC130058340 (R7C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2112851	NM_015041.3(CLUAP1):c.21C>T (p.Arg7=)	CLUAP1, LOC130058340	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 970128	NM_015041.3(CLUAP1):c.22+5G>A	CLUAP1, LOC130058340	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1486314	NM_015041.3(CLUAP1):c.22+7C>T	CLUAP1, LOC130058340	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2088224	NM_015041.3(CLUAP1):c.22+13del	CLUAP1, LOC130058340	Deletion (intron variant)	not provided	GBenign
Select item 2982473	NM_015041.3(CLUAP1):c.22+14G>A	CLUAP1, LOC130058340	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1165824	NM_015041.3(CLUAP1):c.22+18C>G	CLUAP1, LOC130058340	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1602687	NM_015041.3(CLUAP1):c.22+20C>T	CLUAP1, LOC130058340	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002927	NM_015041.3(CLUAP1):c.23-20T>C	CLUAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1567212	NM_015041.3(CLUAP1):c.23-17T>C	CLUAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1014303	NM_015041.3(CLUAP1):c.31G>A (p.Glu11Lys)	CLUAP1 (E11K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1025114	NM_015041.3(CLUAP1):c.34A>G (p.Met12Val)	CLUAP1 (M12V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2693035	NM_015041.3(CLUAP1):c.35T>C (p.Met12Thr)	CLUAP1 (M12T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2091316	NM_015041.3(CLUAP1):c.43G>A (p.Ala15Thr)	CLUAP1 (A15T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1047185	NM_015041.3(CLUAP1):c.51A>G (p.Gly17=)	CLUAP1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1423521	NM_015041.3(CLUAP1):c.58C>T (p.Arg20Ter)	CLUAP1 (R20*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2082412	NM_015041.3(CLUAP1):c.62A>G (p.His21Arg)	CLUAP1 (H21R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2038465	NM_015041.3(CLUAP1):c.73G>C (p.Glu25Gln)	CLUAP1 (E25Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1720599	NM_015041.3(CLUAP1):c.79T>A (p.Phe27Ile)	CLUAP1 (F27I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 939888	NM_015041.3(CLUAP1):c.82C>T (p.Arg28Cys)	CLUAP1 (R28C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 933360	NM_015041.3(CLUAP1):c.83G>A (p.Arg28His)	CLUAP1 (R28H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 854630	NM_015041.3(CLUAP1):c.89C>G (p.Pro30Arg)	CLUAP1 (P30R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3146132	NM_015041.3(CLUAP1):c.98G>A (p.Gly33Glu)	CLUAP1 (G33E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1167289	NM_015041.3(CLUAP1):c.102T>C (p.Leu34=)	CLUAP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2997179	NM_015041.3(CLUAP1):c.103G>A (p.Val35Ile)	CLUAP1 (V35I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 850043	NM_015041.3(CLUAP1):c.103G>C (p.Val35Leu)	CLUAP1 (V35L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2085513	NM_015041.3(CLUAP1):c.107C>A (p.Ser36Tyr)	CLUAP1 (S36Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1633849	NM_015041.3(CLUAP1):c.114G>A (p.Val38=)	CLUAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1150938	NM_015041.3(CLUAP1):c.117T>C (p.Leu39=)	CLUAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1078432	NM_015041.3(CLUAP1):c.117T>G (p.Leu39=)	CLUAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2790201	NM_015041.3(CLUAP1):c.134G>A (p.Arg45Lys)	CLUAP1 (R45K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 966063	NM_015041.3(CLUAP1):c.134+1G>T	CLUAP1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 838716	NM_015041.3(CLUAP1):c.134+4C>T	CLUAP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 859153	NM_015041.3(CLUAP1):c.134+5G>A	CLUAP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1078579	NM_015041.3(CLUAP1):c.134+8C>T	CLUAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1896746	NM_015041.3(CLUAP1):c.134+9G>A	CLUAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1167290	NM_015041.3(CLUAP1):c.134+9G>T	CLUAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1548291	NM_015041.3(CLUAP1):c.134+16del	CLUAP1	Deletion (intron variant)	not provided	GLikely benign
Select item 1651561	NM_015041.3(CLUAP1):c.135-20C>G	CLUAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1640268	NM_015041.3(CLUAP1):c.135-7T>C	CLUAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1057649	NM_015041.3(CLUAP1):c.135-3T>C	CLUAP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2065570	NM_015041.3(CLUAP1):c.137A>G (p.Tyr46Cys)	CLUAP1 (Y46C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1492817	NM_015041.3(CLUAP1):c.139G>T (p.Glu47Ter)	CLUAP1 (E47*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2093957	NM_015041.3(CLUAP1):c.140A>C (p.Glu47Ala)	CLUAP1 (E47A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3146129	NM_015041.3(CLUAP1):c.141G>T (p.Glu47Asp)	CLUAP1 (E47D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2769634	NM_015041.3(CLUAP1):c.141G>A (p.Glu47=)	CLUAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1040337	NM_015041.3(CLUAP1):c.143C>A (p.Pro48His)	CLUAP1 (P48H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1465956	NM_015041.3(CLUAP1):c.158C>T (p.Pro53Leu)	CLUAP1 (P53L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2142352	NM_015041.3(CLUAP1):c.159G>A (p.Pro53=)	CLUAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1648104	NM_015041.3(CLUAP1):c.165C>T (p.Asp55=)	CLUAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1047221	NM_015041.3(CLUAP1):c.165C>A (p.Asp55Glu)	CLUAP1 (D55E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1976981	NM_015041.3(CLUAP1):c.174T>C (p.Thr58=)	CLUAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003099	NM_015041.3(CLUAP1):c.184C>T (p.Arg62Ter)	CLUAP1 (R62*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1540046	NM_015041.3(CLUAP1):c.184C>A (p.Arg62=)	CLUAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2962527	NM_015041.3(CLUAP1):c.186A>C (p.Arg62=)	CLUAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1079242	NM_015041.3(CLUAP1):c.195C>T (p.Phe65=)	CLUAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 776970	NM_015041.3(CLUAP1):c.202G>T (p.Ala68Ser)	CLUAP1 (A68S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 845626	NM_015041.3(CLUAP1):c.205A>T (p.Ile69Phe)	CLUAP1 (I69F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1461603	NM_015041.3(CLUAP1):c.209C>A (p.Ala70Asp)	CLUAP1 (A70D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2110190	NM_015041.3(CLUAP1):c.219+9A>G	CLUAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1608170	NM_015041.3(CLUAP1):c.219+17T>A	CLUAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2039417	NM_015041.3(CLUAP1):c.220-14T>G	CLUAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2813454	NM_015041.3(CLUAP1):c.220-12G>T	CLUAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1167291	NM_015041.3(CLUAP1):c.220-6A>T	CLUAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1019719	NM_015041.3(CLUAP1):c.221C>T (p.Ala74Val)	CLUAP1 (A74V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1653911	NM_015041.3(CLUAP1):c.225C>G (p.Thr75=)	CLUAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1648309	NM_015041.3(CLUAP1):c.228G>A (p.Lys76=)	CLUAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2278275	NM_015041.3(CLUAP1):c.233A>T (p.His78Leu)	CLUAP1 (H78L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2000589	NM_015041.3(CLUAP1):c.233A>G (p.His78Arg)	CLUAP1 (H78R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1504721	NM_015041.3(CLUAP1):c.235A>G (p.Ile79Val)	CLUAP1 (I79V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1419014	NM_015041.3(CLUAP1):c.235A>T (p.Ile79Leu)	CLUAP1 (I79L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1717774	NM_015041.3(CLUAP1):c.236T>C (p.Ile79Thr)	CLUAP1 (I79T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1045494	NM_015041.3(CLUAP1):c.236T>G (p.Ile79Arg)	CLUAP1 (I79R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1047405	NM_015041.3(CLUAP1):c.248C>T (p.Thr83Ile)	CLUAP1 (T83I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1913252	NM_015041.3(CLUAP1):c.249T>C (p.Thr83=)	CLUAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1044329	NM_015041.3(CLUAP1):c.254A>G (p.Lys85Arg)	CLUAP1 (K85R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2321255	NM_015041.3(CLUAP1):c.256C>A (p.Leu86Ile)	CLUAP1 (L86I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 937738	NM_015041.3(CLUAP1):c.260dup (p.Tyr87Ter)	CLUAP1 (Y87*)	Duplication (nonsense)	not provided	GUncertain significance
Select item 2086717	NM_015041.3(CLUAP1):c.269A>G (p.Asp90Gly)	CLUAP1 (D90G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2014712	NM_015041.3(CLUAP1):c.271G>A (p.Gly91Arg)	CLUAP1 (G91R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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