718[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +903 more	Copy number gain	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 150491	GRCh38/hg38 19p13.3-13.2(chr19:5905175-6916287)x3	ACER1, ACSBG2 +113 more	Copy number gain	See cases	GUncertain significance
Select item 1280962	NM_000064.4(C3):c.*94C>T	C3	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2791078	NM_000064.4(C3):c.4987A>G (p.Asn1663Asp)	C3 (N1663D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2959842	NM_000064.4(C3):c.4951G>T (p.Ala1651Ser)	C3 (A1651S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2069494	NM_000064.4(C3):c.4947C>T (p.Leu1649=)	C3	Single nucleotide variant (synonymous variant)	Age related macular degeneration 9 +3 more	GConflicting classifications of pathogenicity
Select item 330269	NM_000064.4(C3):c.4941G>A (p.Gln1647=)	C3	Single nucleotide variant (synonymous variant)	Complement component 3 deficiency +3 more	GConflicting classifications of pathogenicity
Select item 2873331	NM_000064.4(C3):c.4935A>G (p.Gln1645=)	C3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2046254	NM_000064.4(C3):c.4922A>G (p.Glu1641Gly)	C3 (E1641G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1575217	NM_000064.4(C3):c.4911C>T (p.Cys1637=)	C3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2809997	NM_000064.4(C3):c.4907A>C (p.Glu1636Ala)	C3 (E1636A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1163114	NM_000064.4(C3):c.4906G>C (p.Glu1636Gln)	C3 (E1636Q)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with C3 anomaly +3 more	GUncertain significance
Select item 2185639	NM_000064.4(C3):c.4905C>T (p.Asp1635=)	C3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1959092	NM_000064.4(C3):c.4900G>A (p.Glu1634Lys)	C3 (E1634K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 330270	NM_000064.4(C3):c.4896C>T (p.Pro1632=)	C3	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 1686528	NM_000064.4(C3):c.4892G>A (p.Trp1631Ter)	C3 (W1631*)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 2986047	NM_000064.4(C3):c.4887G>C (p.Glu1629Asp)	C3 (E1629D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 789661	NM_000064.4(C3):c.4878T>C (p.Thr1626=)	C3	Single nucleotide variant (synonymous variant)	Kidney disorder +5 more	GBenign/Likely benign
Select item 1879414	NM_000064.4(C3):c.4870A>T (p.Lys1624Ter)	C3 (K1624*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1947324	NM_000064.4(C3):c.4867G>T (p.Gly1623Trp)	C3 (G1623W)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2085001	NM_000064.4(C3):c.4862T>G (p.Ile1621Ser)	C3 (I1621S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 330271	NM_000064.4(C3):c.4855A>C (p.Ser1619Arg)	C3 (S1619R)	Single nucleotide variant (missense variant)	Complement component 3 deficiency +4 more	GConflicting classifications of pathogenicity
Select item 2084913	NM_000064.4(C3):c.4851-1G>A	C3	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1368400	NM_000064.4(C3):c.4851-1G>T	C3	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2130612	NM_000064.4(C3):c.4851-8C>G	C3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1927697	NM_000064.4(C3):c.4851-18T>C	C3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999910	NM_000064.4(C3):c.4850+20G>T	C3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2789803	NM_000064.4(C3):c.4850+20G>A	C3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 330272	NM_000064.4(C3):c.4850+12C>A	C3	Single nucleotide variant (intron variant)	Complement component 3 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 2755176	NM_000064.4(C3):c.4850+6T>A	C3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 727032	NM_000064.4(C3):c.4850+3G>A	C3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982080	NM_000064.4(C3):c.4846C>G (p.Pro1616Ala)	C3 (P1616A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 737344	NM_000064.4(C3):c.4845G>A (p.Lys1615=)	C3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1919570	NM_000064.4(C3):c.4843A>G (p.Lys1615Glu)	C3 (K1615E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1935794	NM_000064.4(C3):c.4838G>T (p.Gly1613Val)	C3 (G1613V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 330273	NM_000064.4(C3):c.4827C>T (p.Ser1609=)	C3	Single nucleotide variant (synonymous variant)	Atypical hemolytic-uremic syndrome with C3 anomaly +3 more	GConflicting classifications of pathogenicity
Select item 758206	NM_000064.4(C3):c.4824C>T (p.Ser1608=)	C3	Single nucleotide variant (synonymous variant)	Complement component 3 deficiency +4 more	GConflicting classifications of pathogenicity
Select item 1382165	NM_000064.4(C3):c.4823C>T (p.Ser1608Phe)	C3 (S1608F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2793323	NM_000064.4(C3):c.4813T>C (p.Trp1605Arg)	C3 (W1605R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2708812	NM_000064.4(C3):c.4812G>C (p.Met1604Ile)	C3 (M1604I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3022466	NM_000064.4(C3):c.4811T>C (p.Met1604Thr)	C3 (M1604T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 330274	NM_000064.4(C3):c.4803C>T (p.His1601=)	C3	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1507050	NM_000064.4(C3):c.4802A>G (p.His1601Arg)	C3 (H1601R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2176718	NM_000064.4(C3):c.4800A>T (p.Lys1600Asn)	C3 (K1600N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2816831	NM_000064.4(C3):c.4794G>A (p.Glu1598=)	C3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1991259	NM_000064.4(C3):c.4789GAG[1] (p.Glu1598del)	C3 (E1598del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1093064	NM_000064.4(C3):c.4791G>A (p.Glu1597=)	C3	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 2002815	NM_000064.4(C3):c.4789G>C (p.Glu1597Gln)	C3 (E1597Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2099778	NM_000064.4(C3):c.4784A>G (p.Lys1595Arg)	C3 (K1595R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1941504	NM_000064.4(C3):c.4784A>T (p.Lys1595Met)	C3 (K1595M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2883655	NM_000064.4(C3):c.4779C>A (p.Ala1593=)	C3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 330275	NM_000064.4(C3):c.4767G>A (p.Lys1589=)	C3	Single nucleotide variant (synonymous variant)	Atypical hemolytic-uremic syndrome with C3 anomaly +4 more	GConflicting classifications of pathogenicity
Select item 1594141	NM_000064.4(C3):c.4764C>T (p.Ile1588=)	C3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 330276	NM_000064.4(C3):c.4759C>T (p.Pro1587Ser)	C3 (P1587S)	Single nucleotide variant (missense variant)	Complement component 3 deficiency +3 more	GConflicting classifications of pathogenicity
Select item 1667114	NM_000064.4(C3):c.4749G>A (p.Thr1583=)	C3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974878	NM_000064.4(C3):c.4748C>T (p.Thr1583Met)	C3 (T1583M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1589047	NM_000064.4(C3):c.4746C>T (p.Arg1582=)	C3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1990836	NM_000064.4(C3):c.4725G>C (p.Glu1575Asp)	C3 (E1575D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1589951	NM_000064.4(C3):c.4719G>A (p.Ser1573=)	C3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2085392	NM_000064.4(C3):c.4716C>T (p.Gly1572=)	C3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2793754	NM_000064.4(C3):c.4715-5T>C	C3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2029144	NM_000064.4(C3):c.4715-15_4715-14delinsAA	C3	Indel (intron variant)	not provided	GUncertain significance
Select item 1639975	NM_000064.4(C3):c.4715-14C>G	C3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990219	NM_000064.4(C3):c.4715-18C>T	C3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1544152	NM_000064.4(C3):c.4714+14C>T	C3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2898081	NM_000064.4(C3):c.4714+7C>G	C3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2851777	NM_000064.4(C3):c.4714+5G>A	C3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1556589	NM_000064.4(C3):c.4707C>T (p.Ile1569=)	C3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1014094	NM_000064.4(C3):c.4667A>G (p.Asn1556Ser)	C3 (N1556S)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1555471	NM_000064.4(C3):c.4665C>G (p.Ser1555=)	C3	Single nucleotide variant (synonymous variant)	Complement component 3 deficiency +3 more	GLikely benign
Select item 1618093	NM_000064.4(C3):c.4662G>A (p.Leu1554=)	C3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2847241	NM_000064.4(C3):c.4655T>G (p.Val1552Gly)	C3 (V1552G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 732571	NM_000064.4(C3):c.4645C>T (p.Leu1549=)	C3	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 330277	NM_000064.4(C3):c.4645C>A (p.Leu1549Met)	C3 (L1549M)	Single nucleotide variant (missense variant)	Age related macular degeneration 9 +3 more	GBenign/Likely benign
Select item 2766503	NM_000064.4(C3):c.4641C>A (p.Thr1547=)	C3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 330278	NM_000064.4(C3):c.4635C>T (p.Tyr1545=)	C3	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1950550	NM_000064.4(C3):c.4631T>C (p.Val1544Ala)	C3 (V1544A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 17064	NM_000064.4(C3):c.4631-2A>G	C3	Single nucleotide variant (splice acceptor variant)	C3 deficiency	GPathogenic
Select item 725762	NM_000064.4(C3):c.4631-6C>T	C3	Single nucleotide variant (intron variant)	not provided +3 more	GLikely benign
Select item 330279	NM_000064.4(C3):c.4631-8C>T	C3	Single nucleotide variant (intron variant)	Complement component 3 deficiency +3 more	GBenign
Select item 330280	NM_000064.4(C3):c.4631-9C>T	C3	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 1181127	NM_000064.4(C3):c.4631-287T>C	C3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278883	NM_000064.4(C3):c.4630+265G>T	C3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3005496	NM_000064.4(C3):c.4630+19G>A	C3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1429714	NM_000064.4(C3):c.4630+12A>G	C3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1472642	NM_000064.4(C3):c.4577A>G (p.Lys1526Arg)	C3 (K1526R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2896220	NM_000064.4(C3):c.4573G>A (p.Asp1525Asn)	C3 (D1525N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3135989	NM_000064.4(C3):c.4570G>C (p.Asp1524His)	C3 (D1524H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1918743	NM_000064.4(C3):c.4569G>A (p.Ser1523=)	C3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2904013	NM_000064.4(C3):c.4561C>G (p.Gln1521Glu)	C3 (Q1521E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1603647	NM_000064.4(C3):c.4560A>T (p.Ile1520=)	C3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1949410	NM_000064.4(C3):c.4547A>C (p.Glu1516Ala)	C3 (E1516A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1670447	NM_000064.4(C3):c.4547-11C>G	C3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1969172	NM_000064.4(C3):c.4547-14A>C	C3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1633196	NM_000064.4(C3):c.4547-16C>G	C3	Single nucleotide variant (intron variant)	not provided +3 more	GLikely benign
Select item 1192668	NM_000064.4(C3):c.4546+58A>G	C3	Single nucleotide variant (intron variant)	Age related macular degeneration 9 +2 more	GBenign
Select item 1638979	NM_000064.4(C3):c.4546+18G>A	C3	Single nucleotide variant (intron variant)	not provided +3 more	GLikely benign
Select item 1673169	NM_000064.4(C3):c.4546+17C>T	C3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1944426	NM_000064.4(C3):c.4546+8C>T	C3	Single nucleotide variant (intron variant)	not provided	GLikely benign

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