Related gene-specific medical variations for Gene (Select 100885778) - ClinVar

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Links from Gene

Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3017873	NM_052867.4(NALCN):c.5125G>A (p.Ala1709Thr)	NALCN, NALCN-AS1 (A1709T +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2995149	NM_052867.4(NALCN):c.5077A>C (p.Arg1693=)	NALCN-AS1, NALCN	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2977002	NM_052867.4(NALCN):c.4949G>C (p.Arg1650Pro)	NALCN, NALCN-AS1 (R1621P +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2837503	NM_052867.4(NALCN):c.5080A>G (p.Thr1694Ala)	NALCN, NALCN-AS1 (T1665A +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2759026	NM_052867.4(NALCN):c.5113C>A (p.Pro1705Thr)	NALCN, NALCN-AS1 (P1705T +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2756219	NM_052867.4(NALCN):c.4976A>C (p.Asp1659Ala)	NALCN, NALCN-AS1 (D1630A +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2732327	NM_052867.4(NALCN):c.4920G>A (p.Gln1640=)	NALCN, NALCN-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2706653	NM_052867.4(NALCN):c.4944G>A (p.Ser1648=)	NALCN, NALCN-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2705889	NM_052867.4(NALCN):c.5000T>G (p.Phe1667Cys)	NALCN, NALCN-AS1 (F1638C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2482564	NM_052867.4(NALCN):c.4937C>T (p.Thr1646Met)	NALCN, NALCN-AS1 (T1646M +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2429678	NM_052867.4(NALCN):c.5017C>T (p.Pro1673Ser)	NALCN-AS1, NALCN (P1644S +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2419200	NM_052867.4(NALCN):c.4975G>A (p.Asp1659Asn)	NALCN, NALCN-AS1 (D1630N +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2407899	NM_052867.4(NALCN):c.4997A>C (p.Lys1666Thr)	NALCN, NALCN-AS1 (K1637T +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2313841	NM_052867.4(NALCN):c.5012G>A (p.Arg1671His)	NALCN-AS1, NALCN (R1671H +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2293534	NM_052867.4(NALCN):c.5029A>G (p.Lys1677Glu)	NALCN, NALCN-AS1 (K1677E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227836	NM_052867.4(NALCN):c.5126C>T (p.Ala1709Val)	NALCN, NALCN-AS1 (A1680V +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2136187	NM_052867.4(NALCN):c.4940T>C (p.Leu1647Pro)	NALCN, NALCN-AS1 (L1676P +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2125548	NM_052867.4(NALCN):c.5023+1G>A	NALCN, NALCN-AS1	Single nucleotide variant (splice donor variant +1 more)	not provided	GUncertain significance
Select item 2012568	NM_052867.4(NALCN):c.5080A>C (p.Thr1694Pro)	NALCN, NALCN-AS1 (T1665P +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1970995	NM_052867.4(NALCN):c.4975G>C (p.Asp1659His)	NALCN, NALCN-AS1 (D1630H +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1933926	NM_052867.4(NALCN):c.4980A>T (p.Ala1660=)	NALCN-AS1, NALCN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1932488	NM_052867.4(NALCN):c.4943C>T (p.Ser1648Leu)	NALCN, NALCN-AS1 (S1619L +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1912835	NM_052867.4(NALCN):c.5066G>A (p.Arg1689Gln)	NALCN, NALCN-AS1 (R1660Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1910374	NM_052867.4(NALCN):c.4949G>A (p.Arg1650Gln)	NALCN, NALCN-AS1 (R1650Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1905872	NM_052867.4(NALCN):c.5187C>T (p.Asp1729=)	NALCN, NALCN-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1878560	NM_052867.4(NALCN):c.5164C>G (p.Arg1722Gly)	NALCN, NALCN-AS1 (R1693G +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital contractures of the limbs and face, hypotonia, and developmental delay	GUncertain significance
Select item 1723722	NM_052867.4(NALCN):c.5087T>C (p.Met1696Thr)	NALCN-AS1, NALCN (M1667T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1721745	NM_052867.4(NALCN):c.5203C>T (p.Leu1735Phe)	NALCN, NALCN-AS1 (L1706F +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1341897	NM_052867.4(NALCN):c.5138G>A (p.Gly1713Asp)	NALCN, NALCN-AS1 (G1684D +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +3 more	GUncertain significance
Select item 1327769	NM_052867.4(NALCN):c.4906-10T>G	NALCN, NALCN-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1314243	NM_052867.4(NALCN):c.5194G>A (p.Gly1732Arg)	NALCN, NALCN-AS1 (G1703R +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1305376	NM_052867.4(NALCN):c.5165G>A (p.Arg1722Gln)	NALCN, NALCN-AS1 (R1693Q +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1305297	NM_052867.4(NALCN):c.5127G>A (p.Ala1709=)	NALCN, NALCN-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	NALCN-related condition +1 more	GConflicting classifications of pathogenicity
Select item 1304411	NM_052867.4(NALCN):c.5078G>A (p.Arg1693Lys)	NALCN, NALCN-AS1 (R1664K +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1302501	NM_052867.4(NALCN):c.4906-3C>A	NALCN, NALCN-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 1300445	NM_052867.4(NALCN):c.4906-11C>A	NALCN, NALCN-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1296774	NM_052867.4(NALCN):c.5023+268C>A	NALCN, NALCN-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289921	NM_052867.4(NALCN):c.5024-256T>A	NALCN, NALCN-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277409	NM_052867.4(NALCN):c.5024-179dup	NALCN, NALCN-AS1	Duplication (intron variant)	not provided	GBenign
Select item 1239049	NM_052867.4(NALCN):c.4906-188C>T	NALCN, NALCN-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1208323	NM_052867.4(NALCN):c.5098G>A (p.Val1700Met)	NALCN, NALCN-AS1 (V1671M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1207182	NM_052867.4(NALCN):c.5065C>T (p.Arg1689Trp)	NALCN, NALCN-AS1 (R1660W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1206774	NM_052867.4(NALCN):c.4906-226A>C	NALCN, NALCN-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1204016	NM_052867.4(NALCN):c.5011C>T (p.Arg1671Cys)	NALCN, NALCN-AS1 (R1642C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1203975	NM_052867.4(NALCN):c.4906-205T>C	NALCN, NALCN-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1202312	NM_052867.4(NALCN):c.5079G>A (p.Arg1693=)	NALCN, NALCN-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1197467	NM_052867.4(NALCN):c.5164C>T (p.Arg1722Trp)	NALCN, NALCN-AS1 (R1693W +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1192899	NM_052867.4(NALCN):c.4912A>G (p.Ser1638Gly)	NALCN, NALCN-AS1 (S1609G +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1187074	NM_052867.4(NALCN):c.4961G>A (p.Arg1654Gln)	NALCN, NALCN-AS1 (R1625Q +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital contractures of the limbs and face, hypotonia, and developmental delay +1 more	GUncertain significance
Select item 1183551	NM_052867.4(NALCN):c.4976_4978dup (p.Asp1659dup)	NALCN, NALCN-AS1	Duplication (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1174344	NM_052867.4(NALCN):c.4974C>T (p.Ala1658=)	NALCN, NALCN-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1033020	NM_052867.4(NALCN):c.4978G>A (p.Ala1660Thr)	NALCN, NALCN-AS1 (A1660T +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 +1 more	GUncertain significance
Select item 932536	NM_052867.4(NALCN):c.5156G>A (p.Trp1719Ter)	NALCN, NALCN-AS1 (W1690* +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 745933	NM_052867.4(NALCN):c.5094T>C (p.Ser1698=)	NALCN, NALCN-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 741086	NM_052867.4(NALCN):c.4995G>A (p.Arg1665=)	NALCN, NALCN-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 697435	NM_052867.4(NALCN):c.5024-10_5024-7dup	NALCN, NALCN-AS1	Duplication (intron variant)	not provided +1 more	GLikely benign
Select item 637028	NM_052867.4(NALCN):c.5209G>C (p.Asp1737His)	NALCN, NALCN-AS1 (D1737H +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital contractures of the limbs and face, hypotonia, and developmental delay	GUncertain significance
Select item 587535	NM_052867.4(NALCN):c.5188G>A (p.Glu1730Lys)	NALCN-AS1, NALCN (E1730K +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital contractures of the limbs and face, hypotonia, and developmental delay +1 more	GUncertain significance
Select item 502132	NM_052867.4(NALCN):c.4977C>G (p.Asp1659Glu)	NALCN, NALCN-AS1 (D1659E +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	NALCN-related condition +1 more	GConflicting classifications of pathogenicity
Select item 262264	NM_052867.4(NALCN):c.4977C>T (p.Asp1659=)	NALCN-AS1, NALCN	Single nucleotide variant (non-coding transcript variant +1 more)	NALCN-related condition +1 more	GBenign/Likely benign

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Items: 60