CPAMD8[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 144765	GRCh38/hg38 19p13.12-13.11(chr19:14154962-16914313)x1	ADGRE2, ADGRE3 +237 more	Copy number loss	See cases	GPathogenic
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 147597	GRCh38/hg38 19p13.11(chr19:16892429-16926210)x1	CPAMD8, F2RL3 +6 more	Copy number loss	See cases	GBenign
Select item 1240872	NM_015692.5(CPAMD8):c.*130A>C	CPAMD8	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 709705	NM_015692.5(CPAMD8):c.5638A>G (p.Asn1880Asp)	CPAMD8 (N1880D)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 2399075	NM_015692.5(CPAMD8):c.5587G>A (p.Val1863Ile)	CPAMD8 (V1863I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2496025	NM_015692.5(CPAMD8):c.5579C>T (p.Pro1860Leu)	CPAMD8 (P1860L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2175791	NM_015692.5(CPAMD8):c.5545G>T (p.Val1849Leu)	CPAMD8 (V1849L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2356430	NM_015692.5(CPAMD8):c.5543G>A (p.Arg1848Gln)	CPAMD8 (R1848Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3076584	NM_015692.5(CPAMD8):c.5536A>G (p.Ser1846Gly)	CPAMD8 (S1846G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1237649	NM_015692.5(CPAMD8):c.5528A>G (p.Gln1843Arg)	CPAMD8 (Q1843R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2501325	NM_015692.5(CPAMD8):c.5521G>A (p.Ala1841Thr)	CPAMD8 (A1841T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3269128	NM_015692.5(CPAMD8):c.5519C>T (p.Pro1840Leu)	CPAMD8 (P1840L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1438628	NM_015692.5(CPAMD8):c.5461G>A (p.Gly1821Arg)	CPAMD8 (G1821R)	Single nucleotide variant (missense variant +1 more)	See cases +2 more	GUncertain significance
Select item 2388491	NM_015692.5(CPAMD8):c.5458A>G (p.Ser1820Gly)	CPAMD8 (S1820G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2350572	NM_015692.5(CPAMD8):c.5443C>T (p.Arg1815Trp)	CPAMD8 (R1815W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1278790	NM_015692.5(CPAMD8):c.5426+200C>T	CPAMD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278930	NM_015692.5(CPAMD8):c.5426+40T>G	CPAMD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2612948	NM_015692.5(CPAMD8):c.5383G>A (p.Val1795Met)	CPAMD8 (V1795M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1529514	NM_015692.5(CPAMD8):c.5349G>A (p.Gln1783=)	CPAMD8	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2152472	NM_015692.5(CPAMD8):c.5342C>G (p.Pro1781Arg)	CPAMD8 (P1781R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3076583	NM_015692.5(CPAMD8):c.5335C>T (p.Pro1779Ser)	CPAMD8 (P1779S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2356794	NM_015692.5(CPAMD8):c.5306C>T (p.Thr1769Ile)	CPAMD8 (T1769I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3020555	NM_015692.5(CPAMD8):c.5276-13C>T	CPAMD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1949141	NM_015692.5(CPAMD8):c.5276-20C>T	CPAMD8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3269120	NM_015692.5(CPAMD8):c.5228G>T (p.Arg1743Leu)	CPAMD8 (R1743L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1248916	NM_015692.5(CPAMD8):c.5179G>A (p.Asp1727Asn)	CPAMD8 (D1727N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2057353	NM_015692.5(CPAMD8):c.5166G>C (p.Pro1722=)	CPAMD8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2045513	NM_015692.5(CPAMD8):c.5164C>A (p.Pro1722Thr)	CPAMD8 (P1722T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2325239	NM_015692.5(CPAMD8):c.5152G>A (p.Ala1718Thr)	CPAMD8 (A1718T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212386	NM_015692.5(CPAMD8):c.5144A>T (p.Asp1715Val)	CPAMD8 (D1715V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3269134	NM_015692.5(CPAMD8):c.5126G>T (p.Arg1709Leu)	CPAMD8 (R1709L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1945997	NM_015692.5(CPAMD8):c.5086G>A (p.Gly1696Ser)	CPAMD8 (G1696S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2394801	NM_015692.5(CPAMD8):c.5073C>G (p.Phe1691Leu)	CPAMD8 (F1691L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2971767	NM_015692.5(CPAMD8):c.5004C>T (p.Ala1668=)	CPAMD8, LOC130063904	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1260417	NM_015692.5(CPAMD8):c.4989C>G (p.Thr1663=)	CPAMD8, LOC130063904	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 722411	NM_015692.5(CPAMD8):c.4960G>C (p.Glu1654Gln)	CPAMD8 (E1654Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 785618	NM_015692.5(CPAMD8):c.4955-9G>T	CPAMD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1942621	NM_015692.5(CPAMD8):c.4945T>C (p.Tyr1649His)	CPAMD8 (Y1649H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3346348	NM_015692.5(CPAMD8):c.4939G>T (p.Asp1647Tyr)	CPAMD8 (D1647Y)	Single nucleotide variant (missense variant)	CPAMD8-related disorder	GUncertain significance
Select item 2046459	NM_015692.5(CPAMD8):c.4926A>T (p.Pro1642=)	CPAMD8	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3269117	NM_015692.5(CPAMD8):c.4882C>A (p.Arg1628Ser)	CPAMD8 (R1628S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 710382	NM_015692.5(CPAMD8):c.4858C>G (p.Arg1620Gly)	CPAMD8 (R1620G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 714782	NM_015692.5(CPAMD8):c.4849-5C>T	CPAMD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3038457	NM_015692.5(CPAMD8):c.4849-9G>A	CPAMD8	Single nucleotide variant (intron variant)	CPAMD8-related disorder	GLikely benign
Select item 1233774	NM_015692.5(CPAMD8):c.4849-165dup	CPAMD8	Duplication (intron variant)	not provided	GBenign
Select item 3235244	NM_015692.5(CPAMD8):c.4825C>T (p.Arg1609Ter)	CPAMD8 (R1609*)	Single nucleotide variant (nonsense)	Anterior segment dysgenesis 8	GLikely pathogenic
Select item 2044848	NM_015692.5(CPAMD8):c.4774-6C>T	CPAMD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262158	NM_015692.5(CPAMD8):c.4773+161C>A	CPAMD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281538	NM_015692.5(CPAMD8):c.4773+68dup	CPAMD8	Duplication (intron variant)	not provided	GBenign
Select item 3049738	NM_015692.5(CPAMD8):c.4773+10C>T	CPAMD8	Single nucleotide variant (intron variant)	CPAMD8-related disorder	GLikely benign
Select item 2315925	NM_015692.5(CPAMD8):c.4759G>A (p.Glu1587Lys)	CPAMD8 (E1587K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065142	NM_015692.5(CPAMD8):c.4710T>A (p.Asn1570Lys)	CPAMD8 (N1570K)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis 8	GUncertain significance
Select item 2835479	NM_015692.5(CPAMD8):c.4685+10C>T	CPAMD8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2695614	NM_015692.5(CPAMD8):c.4660A>G (p.Lys1554Glu)	CPAMD8 (K1554E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2236702	NM_015692.5(CPAMD8):c.4650C>G (p.His1550Gln)	CPAMD8 (H1550Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2649523	NM_015692.5(CPAMD8):c.4620C>T (p.Asp1540=)	CPAMD8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 733402	NM_015692.5(CPAMD8):c.4598G>A (p.Arg1533Gln)	CPAMD8 (R1533Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2905105	NM_015692.5(CPAMD8):c.4572G>T (p.Met1524Ile)	CPAMD8 (M1524I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2070259	NM_015692.5(CPAMD8):c.4563G>A (p.Pro1521=)	CPAMD8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2071301	NM_015692.5(CPAMD8):c.4562C>T (p.Pro1521Leu)	CPAMD8 (P1521L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2495015	NM_015692.5(CPAMD8):c.4547A>G (p.Glu1516Gly)	CPAMD8 (E1516G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3076580	NM_015692.5(CPAMD8):c.4538A>G (p.Gln1513Arg)	CPAMD8 (Q1513R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280905	NM_015692.5(CPAMD8):c.4528G>A (p.Val1510Ile)	CPAMD8 (V1510I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3076579	NM_015692.5(CPAMD8):c.4520A>G (p.Gln1507Arg)	CPAMD8 (Q1507R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3034866	NM_015692.5(CPAMD8):c.4489G>T (p.Val1497Leu)	CPAMD8 (V1497L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1987630	NM_015692.5(CPAMD8):c.4471-13C>T	CPAMD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224108	NM_015692.5(CPAMD8):c.4470+176_4470+194del	CPAMD8	Deletion (intron variant)	not provided	GBenign
Select item 789666	NM_015692.5(CPAMD8):c.4470+10T>G	CPAMD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 715595	NM_015692.5(CPAMD8):c.4455C>T (p.Gly1485=)	CPAMD8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 375311	NM_015692.5(CPAMD8):c.4408-1G>A	CPAMD8	Single nucleotide variant (splice acceptor variant)	Anterior segment dysgenesis +1 more	GPathogenic
Select item 789244	NM_015692.5(CPAMD8):c.4407+7G>A	CPAMD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2632198	NM_015692.5(CPAMD8):c.4407+2T>G	CPAMD8	Single nucleotide variant (splice donor variant)	CPAMD8-related disorder	GLikely pathogenic
Select item 2619031	NM_015692.5(CPAMD8):c.4403C>A (p.Ala1468Glu)	CPAMD8 (A1468E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3362554	NM_015692.5(CPAMD8):c.4396del (p.Gln1466fs)	CPAMD8 (Q1466fs)	Deletion (frameshift variant)	Anterior segment dysgenesis 8	GLikely pathogenic
Select item 721241	NM_015692.5(CPAMD8):c.4383C>T (p.Asn1461=)	CPAMD8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2589508	NM_015692.5(CPAMD8):c.4366G>A (p.Glu1456Lys)	CPAMD8 (E1456K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546145	NM_015692.5(CPAMD8):c.4324G>C (p.Val1442Leu)	CPAMD8 (V1442L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3269125	NM_015692.5(CPAMD8):c.4279G>A (p.Ala1427Thr)	CPAMD8 (A1427T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 731259	NM_015692.5(CPAMD8):c.4261G>A (p.Val1421Met)	CPAMD8 (V1421M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2979003	NM_015692.5(CPAMD8):c.4260C>T (p.Cys1420=)	CPAMD8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2420305	NM_015692.5(CPAMD8):c.4252-9C>T	CPAMD8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1243982	NM_015692.5(CPAMD8):c.4252-51A>G	CPAMD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274286	NM_015692.5(CPAMD8):c.4252-75T>G	CPAMD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269470	NM_015692.5(CPAMD8):c.4251+165C>T	CPAMD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2472542	NM_015692.5(CPAMD8):c.4220G>A (p.Arg1407Gln)	CPAMD8 (R1407Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 375309	NM_015692.5(CPAMD8):c.4210T>C (p.Ser1404Pro)	CPAMD8 (S1404P)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis 8	GPathogenic
Select item 2322643	NM_015692.5(CPAMD8):c.4206G>T (p.Trp1402Cys)	CPAMD8 (W1402C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536941	NM_015692.5(CPAMD8):c.4121C>T (p.Ser1374Leu)	CPAMD8 (S1374L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231356	NM_015692.5(CPAMD8):c.4102G>T (p.Val1368Phe)	CPAMD8 (V1368F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206485	NM_015692.5(CPAMD8):c.4066G>A (p.Val1356Met)	CPAMD8 (V1356M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3076575	NM_015692.5(CPAMD8):c.4049T>C (p.Leu1350Pro)	CPAMD8 (L1350P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2006606	NM_015692.5(CPAMD8):c.4028-9T>G	CPAMD8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1175671	NM_015692.5(CPAMD8):c.4028-58G>C	CPAMD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276515	NM_015692.5(CPAMD8):c.4028-66C>T	CPAMD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246237	NM_015692.5(CPAMD8):c.4028-137C>T	CPAMD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2580881	NM_015692.5(CPAMD8):c.4028-1030T>C	CPAMD8	Single nucleotide variant (intron variant)	Anterior segment dysgenesis 8	GUncertain significance
Select item 2069858	NM_015692.5(CPAMD8):c.4024C>T (p.Arg1342Ter)	CPAMD8 (R1342*)	Single nucleotide variant (nonsense)	not provided	GPathogenic

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