8747[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	CDKN2B, CDKN2B-AS1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	LOC130001854, LOC130001855 +1367 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	ABCA1, ABHD17B +1072 more	Copy number gain	See cases	GPathogenic
Select item 144150	GRCh38/hg38 9q21.11-21.13(chr9:68454847-76252863)x1	ABHD17B, ALDH1A1 +148 more	Copy number loss	See cases	GPathogenic
Select item 148901	GRCh38/hg38 9q21.11-21.32(chr9:68499530-83670227)x1	LOC130001938, LOC130001939 +263 more	Copy number loss	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 more	Copy number gain	See cases	GPathogenic
Select item 59108	GRCh38/hg38 9q21.13-21.2(chr9:72224348-77332127)x1	ALDH1A1, ANXA1 +90 more	Copy number loss	See cases	GPathogenic
Select item 59109	GRCh38/hg38 9q21.13-21.31(chr9:73706686-80370629)x1	C9orf40, CARNMT1 +102 more	Copy number loss	See cases	GPathogenic
Select item 153582	GRCh38/hg38 9q21.13(chr9:74282586-75968293)x3	C9orf40, CARNMT1 +24 more	Copy number gain	See cases	GUncertain significance
Select item 549625	NC_000009.12:g.75502958_76045032dup	LOC126860645, LOC126860646 +2 more	Duplication	Primary amenorrhea	GUncertain significance
Select item 2272629	NM_001372043.1(PCSK5):c.16C>T (p.Arg6Cys)	PCSK5 (R6C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305249	NM_001372043.1(PCSK5):c.34C>T (p.Arg12Cys)	PCSK5 (R12C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 716920	NM_001372043.1(PCSK5):c.84C>A (p.Pro28=)	PCSK5	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1179816	NM_001372043.1(PCSK5):c.90T>C (p.Cys30=)	PCSK5	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3305248	NM_001372043.1(PCSK5):c.92G>A (p.Arg31Gln)	PCSK5 (R31Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 776423	NM_001372043.1(PCSK5):c.135G>A (p.Gly45=)	PCSK5	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3305252	NM_001372043.1(PCSK5):c.158T>A (p.Ile53Asn)	PCSK5 (I53N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526380	NM_001372043.1(PCSK5):c.182A>G (p.Asn61Ser)	PCSK5 (N61S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3047788	NM_001372043.1(PCSK5):c.186A>T (p.Ile62=)	PCSK5	Single nucleotide variant (synonymous variant +1 more)	PCSK5-related disorder	GUncertain significance
Select item 2391110	NM_001372043.1(PCSK5):c.197G>A (p.Gly66Glu)	PCSK5 (G66E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301984	NM_001372043.1(PCSK5):c.208G>A (p.Asp70Asn)	PCSK5 (D70N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210467	NM_001372043.1(PCSK5):c.238A>G (p.Ile80Val)	PCSK5 (I80V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543852	NM_001372043.1(PCSK5):c.329A>G (p.Lys110Arg)	PCSK5 (K110R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305250	NM_001372043.1(PCSK5):c.343G>A (p.Asp115Asn)	PCSK5 (D115N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 787625	NM_001372043.1(PCSK5):c.348T>C (p.Tyr116=)	PCSK5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3210470	NM_001372043.1(PCSK5):c.364C>G (p.Gln122Glu)	PCSK5 (Q122E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384149	NM_001372043.1(PCSK5):c.425A>G (p.Asn142Ser)	LOC126860646, PCSK5 (N142S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595850	NM_001372043.1(PCSK5):c.439C>G (p.Gln147Glu)	LOC126860646, PCSK5 (Q147E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305254	NM_001372043.1(PCSK5):c.446A>G (p.Asp149Gly)	LOC126860646, PCSK5 (D149G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 786572	NM_001372043.1(PCSK5):c.447C>T (p.Asp149=)	LOC126860646, PCSK5	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2614281	NM_001372043.1(PCSK5):c.488A>G (p.Lys163Arg)	LOC126860646, PCSK5 (K163R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 218535	NM_001372043.1(PCSK5):c.555C>T (p.Tyr185=)	LOC126860646, PCSK5	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GUncertain significance
Select item 3054390	NM_001372043.1(PCSK5):c.591C>T (p.Asp197=)	PCSK5	Single nucleotide variant (synonymous variant +1 more)	PCSK5-related disorder	GLikely benign
Select item 789020	NM_001372043.1(PCSK5):c.717C>T (p.Ile239=)	PCSK5	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3210471	NM_001372043.1(PCSK5):c.893T>C (p.Met298Thr)	PCSK5 (M298T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210460	NM_001372043.1(PCSK5):c.1084G>A (p.Gly362Arg)	PCSK5 (G362R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3037377	NM_001372043.1(PCSK5):c.1137G>A (p.Thr379=)	PCSK5	Single nucleotide variant (synonymous variant +1 more)	PCSK5-related disorder	GLikely benign
Select item 711510	NM_001372043.1(PCSK5):c.1155G>A (p.Thr385=)	PCSK5	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 148903	GRCh38/hg38 9q21.13-21.2(chr9:76127281-76968483)x1	GCNT1, LOC113839560 +24 more	Copy number loss	See cases	GUncertain significance
Select item 2275242	NM_001372043.1(PCSK5):c.1262C>T (p.Ala421Val)	PCSK5 (A421V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210462	NM_001372043.1(PCSK5):c.1345G>A (p.Ala449Thr)	PCSK5 (A449T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510638	NM_001372043.1(PCSK5):c.1391G>A (p.Arg464Gln)	PCSK5 (R464Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3032170	NM_001372043.1(PCSK5):c.1404T>C (p.Cys468=)	PCSK5	Single nucleotide variant (synonymous variant +1 more)	PCSK5-related disorder	GUncertain significance
Select item 789021	NM_001372043.1(PCSK5):c.1457G>A (p.Arg486His)	PCSK5 (R486H)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2326785	NM_001372043.1(PCSK5):c.1460C>G (p.Ser487Cys)	PCSK5 (S487C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264385	NM_001372043.1(PCSK5):c.1498C>T (p.Arg500Cys)	PCSK5 (R500C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341823	NM_001372043.1(PCSK5):c.1522G>A (p.Val508Ile)	PCSK5 (V508I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3048212	NM_001372043.1(PCSK5):c.1653C>T (p.Asn551=)	PCSK5	Single nucleotide variant (synonymous variant +1 more)	PCSK5-related disorder	GLikely benign
Select item 3210463	NM_001372043.1(PCSK5):c.1796C>T (p.Ser599Phe)	PCSK5 (S599F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 721495	NM_001372043.1(PCSK5):c.1830G>A (p.Pro610=)	PCSK5	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2614433	NM_001372043.1(PCSK5):c.1850A>G (p.Tyr617Cys)	PCSK5 (Y617C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210464	NM_001372043.1(PCSK5):c.1898C>T (p.Ala633Val)	PCSK5 (A633V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598020	NM_001372043.1(PCSK5):c.1909G>A (p.Asp637Asn)	PCSK5 (D637N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600776	NM_001372043.1(PCSK5):c.2213G>A (p.Arg738Gln)	PCSK5 (R738Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394431	NM_001372043.1(PCSK5):c.2351C>A (p.Pro784His)	PCSK5 (P784H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210465	NM_001372043.1(PCSK5):c.2359C>T (p.Arg787Cys)	PCSK5 (R787C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210466	NM_001372043.1(PCSK5):c.2360G>A (p.Arg787His)	PCSK5 (R787H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597663	NM_001372043.1(PCSK5):c.2425A>G (p.Met809Val)	PCSK5 (M809V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270473	NM_001372043.1(PCSK5):c.2427G>A (p.Met809Ile)	PCSK5 (M809I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521588	NM_001372043.1(PCSK5):c.2443G>A (p.Val815Met)	PCSK5 (V815M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305251	NM_001372043.1(PCSK5):c.2511A>G (p.Lys837=)	PCSK5	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2348586	NM_001372043.1(PCSK5):c.2531C>T (p.Thr844Met)	PCSK5 (T844M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304345	NM_001372043.1(PCSK5):c.2553G>T (p.Lys851Asn)	PCSK5 (K851N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3036085	NM_001372043.1(PCSK5):c.2562A>C (p.Thr854=)	PCSK5	Single nucleotide variant (synonymous variant +1 more)	PCSK5-related disorder	GLikely benign
Select item 2321879	NM_001372043.1(PCSK5):c.2591T>C (p.Leu864Ser)	PCSK5 (L864S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210468	NM_001372043.1(PCSK5):c.2605A>C (p.Met869Leu)	PCSK5 (M869L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 155038	GRCh38/hg38 9q21.13-21.2(chr9:76235414-76751538)x3	GCNT1, LOC113839560 +19 more	Copy number gain	See cases	GUncertain significance
Select item 3210469	NM_001372043.1(PCSK5):c.3010T>C (p.Cys1004Arg)	PCSK5 (C1004R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787073	NM_001372043.1(PCSK5):c.3025T>A (p.Phe1009Ile)	PCSK5 (F1009I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 744825	NM_001372043.1(PCSK5):c.3423T>C (p.Pro1141=)	PCSK5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 727679	NM_001372043.1(PCSK5):c.3483G>A (p.Val1161=)	PCSK5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 727680	NM_001372043.1(PCSK5):c.3605-7C>T	PCSK5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 780805	NM_001372043.1(PCSK5):c.3682C>T (p.Pro1228Ser)	PCSK5 (P1228S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2634479	NM_001372043.1(PCSK5):c.3701T>C (p.Leu1234Pro)	PCSK5 (L1207P +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2211768	NM_001372043.1(PCSK5):c.3722C>T (p.Ser1241Phe)	PCSK5 (S1214F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048776	NM_001372043.1(PCSK5):c.3797C>T (p.Ser1266Phe)	PCSK5 (S1239F +1 more)	Single nucleotide variant (missense variant)	PCSK5-related disorder	GLikely benign
Select item 768304	NM_001372043.1(PCSK5):c.4040A>G (p.Lys1347Arg)	PCSK5 (K1320R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3037081	NM_001372043.1(PCSK5):c.4100A>T (p.Lys1367Ile)	PCSK5 (K1340I +1 more)	Single nucleotide variant (missense variant)	PCSK5-related disorder	GUncertain significance
Select item 3045740	NM_001372043.1(PCSK5):c.4103A>C (p.Glu1368Ala)	PCSK5 (E1341A +1 more)	Single nucleotide variant (missense variant)	PCSK5-related disorder	GLikely benign
Select item 2387539	NM_001372043.1(PCSK5):c.4157G>A (p.Arg1386His)	PCSK5 (R1359H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353155	NM_001372043.1(PCSK5):c.4338A>C (p.Arg1446Ser)	PCSK5 (R1419S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 218534	NM_001372043.1(PCSK5):c.4361C>T (p.Thr1454Ile)	PCSK5 (T1427I +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 732974	NM_001372043.1(PCSK5):c.4443G>A (p.Lys1481=)	PCSK5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 786137	NM_001372043.1(PCSK5):c.4454C>T (p.Ser1485Phe)	PCSK5 (S1485F +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2634116	NM_001372043.1(PCSK5):c.4651T>C (p.Cys1551Arg)	PCSK5 (C1524R +1 more)	Single nucleotide variant (missense variant)	PCSK5-related disorder	GUncertain significance
Select item 3044632	NM_001372043.1(PCSK5):c.4683G>C (p.Gln1561His)	PCSK5 (Q1534H +1 more)	Single nucleotide variant (missense variant)	PCSK5-related disorder	GLikely benign
Select item 2412338	NM_001372043.1(PCSK5):c.4700C>T (p.Pro1567Leu)	PCSK5 (P1540L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043924	NM_001372043.1(PCSK5):c.4723G>A (p.Glu1575Lys)	PCSK5 (E1548K +1 more)	Single nucleotide variant (missense variant)	PCSK5-related disorder	GLikely benign
Select item 2635541	NM_001372043.1(PCSK5):c.4740C>A (p.Cys1580Ter)	PCSK5 (C1553* +1 more)	Single nucleotide variant (nonsense)	PCSK5-related disorder	GUncertain significance
Select item 776424	NM_001372043.1(PCSK5):c.4756G>A (p.Ala1586Thr)	PCSK5 (A1586T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2659258	NM_001372043.1(PCSK5):c.5097C>T (p.His1699=)	PCSK5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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