Related gene-specific medical variations for Gene (Select 259232) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3298397	NM_052867.4(NALCN):c.1168A>G (p.Ile390Val)	LOC126861831, NALCN (I361V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3252798	NM_052867.4(NALCN):c.5083A>G (p.Thr1695Ala)	NALCN, NALCN-AS1 (T1666A +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3244226	NC_000013.10:g.(?_101881724)_(101890293_?)dup	NALCN	Duplication	not provided	GUncertain significance
Select item 3244225	NC_000013.10:g.(?_101997597)_(101997791_?)del	NALCN	Deletion	not provided	GPathogenic
Select item 3244224	NC_000013.10:g.(?_101707647)_(101707860_?)del	NALCN	Deletion	not provided	GUncertain significance
Select item 3244223	NC_000013.10:g.(?_101728204)_(101728312_?)del	NALCN	Deletion	not provided	GUncertain significance
Select item 3236614	NM_052867.4(NALCN):c.427C>T (p.Arg143Trp)	NALCN (R143W)	Single nucleotide variant (missense variant)	Congenital contractures of the limbs and face, hypotonia, and developmental delay +1 more	GUncertain significance
Select item 3174317	NM_052867.4(NALCN):c.5184C>G (p.Ser1728Arg)	NALCN, NALCN-AS1 (S1757R +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3065396	NM_052867.4(NALCN):c.2193-5743C>T	NALCN (R744C)	Single nucleotide variant (missense variant +1 more)	Congenital contractures of the limbs and face, hypotonia, and developmental delay	GUncertain significance
Select item 3028948	NM_052867.4(NALCN):c.1209C>T (p.Ser403=)	LOC126861831, NALCN	Single nucleotide variant (synonymous variant)	NALCN-related disorder	GLikely benign
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 2977895	NM_052867.4(NALCN):c.1153G>A (p.Val385Ile)	LOC126861831, NALCN (V356I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2898193	NM_052867.4(NALCN):c.1152C>T (p.Ser384=)	LOC126861831, NALCN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2883497	NM_052867.4(NALCN):c.1263G>C (p.Ala421=)	LOC126861831, NALCN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2757323	NM_052867.4(NALCN):c.1266G>A (p.Glu422=)	LOC126861831, NALCN	Single nucleotide variant (synonymous variant)	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 2755395	NM_052867.4(NALCN):c.1257C>T (p.Tyr419=)	LOC126861831, NALCN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2720101	NM_052867.4(NALCN):c.1203G>A (p.Ala401=)	LOC126861831, NALCN	Single nucleotide variant (synonymous variant)	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 2687889	NM_052867.4(NALCN):c.68C>T (p.Ser23Phe)	NALCN (S23F)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	GUncertain significance
Select item 2684709	GRCh37/hg19 13q32.3-33.1(chr13:101496914-101915206)x3	NALCN	Copy number gain	not provided	GUncertain significance
Select item 2584427	NM_052867.4(NALCN):c.1245C>A (p.Tyr415Ter)	LOC126861831, NALCN (Y386* +1 more)	Single nucleotide variant (nonsense)	NALCN-related disorder	GPathogenic
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 2434036	NM_052867.4(NALCN):c.2089A>G (p.Ile697Val)	NALCN (I668V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2434035	NM_052867.4(NALCN):c.2123G>A (p.Arg708His)	NALCN (R679H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2434034	NM_052867.4(NALCN):c.2762C>G (p.Ala921Gly)	NALCN (A892G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2434033	NM_052867.4(NALCN):c.3521G>T (p.Arg1174Ile)	NALCN (R1145I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2434030	NM_052867.4(NALCN):c.2294+3A>T	NALCN	Single nucleotide variant (intron 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 2432053	NM_052867.4(NALCN):c.4591dup (p.His1531fs)	NALCN (H1502fs +2 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2432047	NM_052867.4(NALCN):c.1262_1263dup (p.Glu422fs)	LOC126861831, NALCN (E393fs +1 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
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 2322654	NM_052867.4(NALCN):c.1183A>G (p.Thr395Ala)	LOC126861831, NALCN (T395A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313841	NM_052867.4(NALCN):c.5012G>A (p.Arg1671His)	NALCN, NALCN-AS1 (R1671H +2 more)	Single nucleotide variant (missense 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 2202996	NM_052867.4(NALCN):c.1186G>A (p.Val396Met)	LOC126861831, NALCN (V396M +1 more)	Single nucleotide variant (missense variant)	not provided	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 2095426	NM_052867.4(NALCN):c.1249G>A (p.Glu417Lys)	LOC126861831, NALCN (E417K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	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 1992405	NM_052867.4(NALCN):c.1172T>C (p.Leu391Pro)	LOC126861831, NALCN (L391P +1 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	GUncertain significance
Select item 1975615	NM_052867.4(NALCN):c.1187_1222dup (p.Lys407_Gly408insValAspValIleValAlaAlaSerAsnTyrTyrLys)	LOC126861831, NALCN	Duplication (inframe_insertion)	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 1970373	NM_052867.4(NALCN):c.1135-16T>C	LOC126861831, NALCN	Single nucleotide variant (intron variant)	not provided	GBenign
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 1809774	NM_052867.4(NALCN):c.966T>G (p.Ile322Met)	NALCN (I322M)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1806579	NM_052867.4(NALCN):c.1216T>G (p.Tyr406Asp)	LOC126861831, NALCN (Y377D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	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 1690353	NM_052867.4(NALCN):c.3511G>A (p.Asp1171Asn)	NALCN (D1142N +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1342391	NM_052867.4(NALCN):c.3209A>G (p.Asn1070Ser)	NALCN (N1041S +2 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 +1 more	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)	Inborn genetic diseases +3 more	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 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 1324777	NM_052867.4(NALCN):c.4251_4252del (p.Cys1417fs)	NALCN (C1388fs +2 more)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 1319320	NM_052867.4(NALCN):c.3263G>A (p.Arg1088His)	NALCN (R1059H +2 more)	Single nucleotide variant (missense variant)	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 1312315	NM_052867.4(NALCN):c.1195A>G (p.Ile399Val)	LOC126861831, NALCN (I370V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1311584	NM_052867.4(NALCN):c.1139T>C (p.Met380Thr)	LOC126861831, NALCN (M351T +1 more)	Single nucleotide variant (missense variant)	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 disorder +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)	Inborn genetic diseases +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 1273019	NM_052867.4(NALCN):c.1135-11C>T	NALCN, LOC126861831	Single nucleotide variant (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 1228477	NM_052867.4(NALCN):c.1266+177C>T	LOC126861831, NALCN	Single nucleotide variant (intron variant)	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 1203078	NM_052867.4(NALCN):c.1197C>G (p.Ile399Met)	LOC126861831, NALCN (I370M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 1197973	NM_052867.4(NALCN):c.1263G>A (p.Ala421=)	LOC126861831, NALCN	Single nucleotide variant (synonymous variant)	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 1191409	NM_052867.4(NALCN):c.1266+192T>G	LOC126861831, NALCN	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1181415	NM_052867.4(NALCN):c.1266+262T>G	LOC126861831, NALCN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1174461	NM_052867.4(NALCN):c.1138dup (p.Met380fs)	LOC126861831, NALCN (M351fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
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

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