NALCN[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1270979	NM_052867.4(NALCN):c.4905+132dup	NALCN	Duplication (intron variant)	not provided	GBenign
Select item 1262726	NM_052867.4(NALCN):c.4905+132_4905+133dup	NALCN	Duplication (intron variant)	not provided	GBenign
Select item 1223537	NM_052867.4(NALCN):c.4905+143del	NALCN	Deletion (intron variant)	not provided	GBenign
Select item 1194819	NM_052867.4(NALCN):c.4905+142A>C	NALCN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1219919	NM_052867.4(NALCN):c.4905+106A>G	NALCN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969621	NM_052867.4(NALCN):c.4905+16G>A	NALCN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1212245	NM_052867.4(NALCN):c.4905+15C>T	NALCN	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 2414364	NM_052867.4(NALCN):c.4905+11G>A	NALCN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2911582	NM_052867.4(NALCN):c.4905+10C>T	NALCN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2892060	NM_052867.4(NALCN):c.4905+6G>C	NALCN	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1917494	NM_052867.4(NALCN):c.4905+4T>C	NALCN	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1987036	NM_052867.4(NALCN):c.4903G>A (p.Glu1635Lys)	NALCN (E1664K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2434029	NM_052867.4(NALCN):c.4894A>C (p.Met1632Leu)	NALCN (M1603L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1341881	NM_052867.4(NALCN):c.4892G>A (p.Ser1631Asn)	NALCN (S1602N +2 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	GUncertain significance
Select item 731887	NM_052867.4(NALCN):c.4869G>A (p.Thr1623=)	NALCN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1698248	NM_052867.4(NALCN):c.4868C>T (p.Thr1623Met)	NALCN (T1594M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3174271	NM_052867.4(NALCN):c.4863G>C (p.Glu1621Asp)	NALCN (E1650D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2591725	NM_052867.4(NALCN):c.4850C>G (p.Thr1617Ser)	NALCN (T1646S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1254010	NM_052867.4(NALCN):c.4850C>T (p.Thr1617Ile)	NALCN (T1588I +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2484425	NM_052867.4(NALCN):c.4843G>A (p.Glu1615Lys)	NALCN (E1644K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2889362	NM_052867.4(NALCN):c.4842C>T (p.Ile1614=)	NALCN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2499774	NM_052867.4(NALCN):c.4840A>G (p.Ile1614Val)	NALCN (I1585V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1582965	NM_052867.4(NALCN):c.4833G>A (p.Pro1611=)	NALCN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1254477	NM_052867.4(NALCN):c.4832C>T (p.Pro1611Leu)	NALCN (P1582L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3002841	NM_052867.4(NALCN):c.4830C>A (p.Asn1610Lys)	NALCN (N1639K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2883320	NM_052867.4(NALCN):c.4819C>T (p.Arg1607Trp)	NALCN (R1578W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1702824	NM_052867.4(NALCN):c.4783C>T (p.His1595Tyr)	NALCN (H1566Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2626907	NM_052867.4(NALCN):c.4780A>G (p.Ile1594Val)	NALCN (I1565V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2965117	NM_052867.4(NALCN):c.4777A>T (p.Ile1593Phe)	NALCN (I1564F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2190721	NM_052867.4(NALCN):c.4773C>T (p.Cys1591=)	NALCN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981259	NM_052867.4(NALCN):c.4770G>A (p.Ser1590=)	NALCN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1180866	NM_052867.4(NALCN):c.4756-107C>A	NALCN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252965	NM_052867.4(NALCN):c.4756-177dup	NALCN	Duplication (intron variant)	not provided	GBenign
Select item 1286335	NM_052867.4(NALCN):c.4756-255T>C	NALCN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265220	NM_052867.4(NALCN):c.4756-306_4756-305del	NALCN	Deletion (intron variant)	not provided	GBenign
Select item 1257877	NM_052867.4(NALCN):c.4755+291G>A	NALCN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1214877	NM_052867.4(NALCN):c.4755+288C>A	NALCN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1286006	NM_052867.4(NALCN):c.4755+266A>G	NALCN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260166	NM_052867.4(NALCN):c.4755+149T>C	NALCN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1900133	NM_052867.4(NALCN):c.4755+18A>G	NALCN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3022447	NM_052867.4(NALCN):c.4755+3G>A	NALCN	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 522142	NM_052867.4(NALCN):c.4755+1G>T	NALCN	Single nucleotide variant (splice donor variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 +3 more	GPathogenic/Likely pathogenic
Select item 423000	NM_052867.4(NALCN):c.4752_4753del (p.Arg1584fs)	NALCN (R1584fs +2 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 1220262	NM_052867.4(NALCN):c.4749C>G (p.Ile1583Met)	NALCN (I1554M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1336857	NM_052867.4(NALCN):c.4745G>A (p.Arg1582His)	NALCN (R1553H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3340027	NM_052867.4(NALCN):c.4734G>C (p.Lys1578Asn)	NALCN (K1549N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2201425	NM_052867.4(NALCN):c.4728C>T (p.Leu1576=)	NALCN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2973193	NM_052867.4(NALCN):c.4717C>T (p.Arg1573Cys)	NALCN (R1544C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1305597	NM_052867.4(NALCN):c.4709A>T (p.Gln1570Leu)	NALCN (Q1541L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3298401	NM_052867.4(NALCN):c.4693dup (p.Glu1565fs)	NALCN (E1565fs +2 more)	Duplication (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 3342527	NM_052867.4(NALCN):c.4693G>A (p.Glu1565Lys)	NALCN (E1536K +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1982047	NM_052867.4(NALCN):c.4686C>A (p.Thr1562=)	NALCN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979399	NM_052867.4(NALCN):c.4680G>A (p.Glu1560=)	NALCN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2582914	NM_052867.4(NALCN):c.4665G>A (p.Ala1555=)	NALCN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1321952	NM_052867.4(NALCN):c.4654G>A (p.Glu1552Lys)	NALCN (E1523K +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GPathogenic
Select item 2706201	NM_052867.4(NALCN):c.4640G>A (p.Ser1547Asn)	NALCN (S1576N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1214162	NM_052867.4(NALCN):c.4623C>T (p.Ser1541=)	NALCN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 522141	NM_052867.4(NALCN):c.4605-1G>C	NALCN	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases	GLikely pathogenic
Select item 2913737	NM_052867.4(NALCN):c.4605-6C>T	NALCN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1202715	NM_052867.4(NALCN):c.4605-8C>T	NALCN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2080016	NM_052867.4(NALCN):c.4605-18GT[2]	NALCN	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2097769	NM_052867.4(NALCN):c.4605-17T>A	NALCN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964096	NM_052867.4(NALCN):c.4605-20A>G	NALCN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1291974	NM_052867.4(NALCN):c.4605-275T>C	NALCN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215920	NM_052867.4(NALCN):c.4604+225_4604+234del	NALCN	Deletion (intron variant)	not provided	GLikely benign
Select item 1221719	NM_052867.4(NALCN):c.4604+168C>T	NALCN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215851	NM_052867.4(NALCN):c.4604+136A>T	NALCN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962734	NM_052867.4(NALCN):c.4604+17C>T	NALCN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2432053	NM_052867.4(NALCN):c.4591dup (p.His1531fs)	NALCN (H1502fs +2 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 706505	NM_052867.4(NALCN):c.4581C>T (p.Asp1527=)	NALCN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2962801	NM_052867.4(NALCN):c.4578C>T (p.Gly1526=)	NALCN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1309358	NM_052867.4(NALCN):c.4576G>A (p.Gly1526Ser)	NALCN (G1497S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1722964	NM_052867.4(NALCN):c.4573G>A (p.Gly1525Ser)	NALCN (G1496S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574833	NM_052867.4(NALCN):c.4546T>C (p.Cys1516Arg)	NALCN (C1487R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1333596	NM_052867.4(NALCN):c.4498A>T (p.Arg1500Trp)	NALCN (R1471W +2 more)	Single nucleotide variant (missense variant)	Congenital contractures of the limbs and face, hypotonia, and developmental delay	GUncertain significance
Select item 3174242	NM_052867.4(NALCN):c.4469T>G (p.Val1490Gly)	NALCN (V1461G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1306450	NM_052867.4(NALCN):c.4468G>A (p.Val1490Ile)	NALCN (V1461I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1329526	NM_052867.4(NALCN):c.4466G>A (p.Arg1489His)	NALCN (R1460H +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 3174234	NM_052867.4(NALCN):c.4465C>T (p.Arg1489Cys)	NALCN (R1489C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2909264	NM_052867.4(NALCN):c.4461G>C (p.Thr1487=)	NALCN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2160767	NM_052867.4(NALCN):c.4461G>A (p.Thr1487=)	NALCN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1314260	NM_052867.4(NALCN):c.4457C>G (p.Pro1486Arg)	NALCN (P1457R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1933989	NM_052867.4(NALCN):c.4455C>T (p.Ile1485=)	NALCN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1705481	NM_052867.4(NALCN):c.4447-2del	NALCN	Deletion (splice acceptor variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	GPathogenic
Select item 1309048	NM_052867.4(NALCN):c.4447-6_4447-3delinsACGA	NALCN	Indel (intron variant)	not provided	GUncertain significance
Select item 2956331	NM_052867.4(NALCN):c.4447-4G>A	NALCN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203637	NM_052867.4(NALCN):c.4447-5C>T	NALCN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1256635	NM_052867.4(NALCN):c.4447-69_4447-68del	NALCN	Deletion (intron variant)	not provided	GBenign
Select item 1217501	NM_052867.4(NALCN):c.4447-228A>G	NALCN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1289289	NM_052867.4(NALCN):c.4447-252C>T	NALCN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248313	NM_052867.4(NALCN):c.4447-325G>C	NALCN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223212	NM_052867.4(NALCN):c.4446+182C>T	NALCN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 445820	NM_052867.4(NALCN):c.4446+15T>C	NALCN	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1722096	NM_052867.4(NALCN):c.4426A>G (p.Met1476Val)	NALCN (M1447V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 262263	NM_052867.4(NALCN):c.4416A>C (p.Ile1472=)	NALCN	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 2575528	NM_052867.4(NALCN):c.4403G>A (p.Arg1468His)	NALCN (R1439H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1019971	NM_052867.4(NALCN):c.4394A>G (p.Asn1465Ser)	NALCN (N1436S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2790802	NM_052867.4(NALCN):c.4387A>G (p.Ser1463Gly)	NALCN (S1463G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2808675	NM_052867.4(NALCN):c.4378C>G (p.Gln1460Glu)	NALCN (Q1431E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340692	NM_052867.4(NALCN):c.4365dup (p.Thr1456fs)	NALCN (T1427fs +2 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic

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