ClinVar for Gene (Select 259232) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3384654	NM_052867.4(NALCN):c.3176G>T (p.Gly1059Val)	NALCN (G1030V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3384609	NM_052867.4(NALCN):c.2325G>T (p.Arg775Ser)	NALCN (R746S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3384376	NM_052867.4(NALCN):c.4930A>G (p.Ser1644Gly)	NALCN, NALCN-AS1 (S1615G +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3384274	NM_052867.4(NALCN):c.146G>A (p.Ser49Asn)	NALCN (S49N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3383971	NM_052867.4(NALCN):c.4073G>A (p.Gly1358Asp)	NALCN (G1329D +2 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	GLikely pathogenic
Select item 3383733	NM_052867.4(NALCN):c.4070T>G (p.Phe1357Cys)	NALCN (F1328C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3383472	NM_052867.4(NALCN):c.3489+1G>T	NALCN	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 3383094	NM_052867.4(NALCN):c.1808A>T (p.Glu603Val)	NALCN (E574V +1 more)	Single nucleotide variant (missense variant)	Congenital contractures of the limbs and face, hypotonia, and developmental delay	GUncertain significance
Select item 3382536	NM_052867.4(NALCN):c.2849T>C (p.Ile950Thr)	NALCN (I921T +2 more)	Single nucleotide variant (missense variant)	Congenital contractures of the limbs and face, hypotonia, and developmental delay	GLikely pathogenic
Select item 3381274	NM_052867.4(NALCN):c.4897C>G (p.Gln1633Glu)	NALCN (Q1604E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3380165	NM_052867.4(NALCN):c.1144C>T (p.Arg382Trp)	LOC126861831, NALCN (R353W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3377521	NM_052867.4(NALCN):c.518G>T (p.Arg173Leu)	NALCN (R173L)	Single nucleotide variant (missense variant)	Congenital contractures of the limbs and face, hypotonia, and developmental delay	GLikely pathogenic
Select item 3377456	NM_052867.4(NALCN):c.2116A>G (p.Lys706Glu)	NALCN (K677E +1 more)	Single nucleotide variant (missense variant)	Congenital contractures of the limbs and face, hypotonia, and developmental delay	GUncertain significance
Select item 3377391	NM_052867.4(NALCN):c.4006T>C (p.Phe1336Leu)	NALCN (F1307L +2 more)	Single nucleotide variant (missense variant)	Congenital contractures of the limbs and face, hypotonia, and developmental delay	GLikely benign
Select item 3376660	NM_052867.4(NALCN):c.1432C>A (p.Gln478Lys)	NALCN (Q449K +1 more)	Single nucleotide variant (missense variant)	Congenital contractures of the limbs and face, hypotonia, and developmental delay	GUncertain significance
Select item 3375712	NM_052867.4(NALCN):c.3269+5G>T	NALCN	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3375487	NM_052867.4(NALCN):c.3163-1G>A	NALCN	Single nucleotide variant (splice acceptor variant)	Congenital contractures of the limbs and face, hypotonia, and developmental delay	GLikely pathogenic
Select item 3372704	NM_052867.4(NALCN):c.2971C>G (p.Leu991Val)	NALCN (L1020V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371599	NM_052867.4(NALCN):c.1753T>C (p.Phe585Leu)	NALCN (F556L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371451	NM_052867.4(NALCN):c.3460G>A (p.Val1154Ile)	NALCN (V1125I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371402	NM_052867.4(NALCN):c.474C>G (p.Phe158Leu)	NALCN (F158L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371272	NM_052867.4(NALCN):c.2816C>T (p.Ala939Val)	NALCN (A910V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369809	NM_052867.4(NALCN):c.3690G>A (p.Lys1230=)	NALCN	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3368444	NM_052867.4(NALCN):c.4048G>A (p.Ala1350Thr)	NALCN (A1321T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368349	NM_052867.4(NALCN):c.3508G>T (p.Val1170Phe)	NALCN (V1141F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367991	NM_052867.4(NALCN):c.3581C>T (p.Pro1194Leu)	NALCN (P1165L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366230	NM_052867.4(NALCN):c.3131C>G (p.Ala1044Gly)	NALCN (A1015G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366078	NM_052867.4(NALCN):c.3704A>G (p.Asp1235Gly)	NALCN (D1206G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363953	NM_052867.4(NALCN):c.830C>T (p.Ala277Val)	NALCN (A277V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363250	NM_052867.4(NALCN):c.685T>C (p.Cys229Arg)	NALCN (C229R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361753	NM_052867.4(NALCN):c.2036G>A (p.Arg679Lys)	NALCN (R650K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360734	NM_052867.4(NALCN):c.2149A>G (p.Arg717Gly)	NALCN (R688G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360232	NM_052867.4(NALCN):c.3458G>A (p.Gly1153Glu)	NALCN (G1124E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3356482	NM_052867.4(NALCN):c.2326A>C (p.Ile776Leu)	NALCN (I747L +2 more)	Single nucleotide variant (missense variant)	NALCN-related disorder	GUncertain significance
Select item 3353007	NM_052867.4(NALCN):c.2055T>C (p.Ser685=)	NALCN	Single nucleotide variant (synonymous variant)	NALCN-related disorder	GLikely benign
Select item 3343907	NM_052867.4(NALCN):c.3034A>G (p.Ser1012Gly)	NALCN (S1012G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343597	NM_052867.4(NALCN):c.729T>A (p.Phe243Leu)	NALCN (F243L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343517	NM_052867.4(NALCN):c.2860G>A (p.Gly954Ser)	NALCN (G925S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343085	NM_052867.4(NALCN):c.2757+4C>T	NALCN	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3343024	NM_052867.4(NALCN):c.2674A>T (p.Met892Leu)	NALCN (M863L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3340692	NM_052867.4(NALCN):c.4365dup (p.Thr1456fs)	NALCN (T1427fs +2 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 3340294	NM_052867.4(NALCN):c.934C>G (p.Leu312Val)	NALCN (L312V)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3340027	NM_052867.4(NALCN):c.4734G>C (p.Lys1578Asn)	NALCN (K1549N +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3339939	NM_052867.4(NALCN):c.5137G>A (p.Gly1713Ser)	NALCN, NALCN-AS1 (G1684S +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3339778	NM_052867.4(NALCN):c.2084C>T (p.Ser695Leu)	NALCN (S666L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339455	NM_052867.4(NALCN):c.3299A>G (p.Asn1100Ser)	NALCN (N1071S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339039	NM_052867.4(NALCN):c.2848A>G (p.Ile950Val)	NALCN (I921V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298403	NM_052867.4(NALCN):c.1419A>T (p.Gln473His)	NALCN (Q473H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3298402	NM_052867.4(NALCN):c.3313A>G (p.Met1105Val)	NALCN (M1134V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3298400	NM_052867.4(NALCN):c.198_201del (p.Leu67fs)	NALCN (L67fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 3298399	NM_052867.4(NALCN):c.3823C>T (p.Arg1275Ter)	NALCN (R1304* +2 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 3298398	NM_052867.4(NALCN):c.2783T>G (p.Phe928Cys)	NALCN (F928C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3251990	NM_052867.4(NALCN):c.3057+2T>G	NALCN	Single nucleotide variant (splice donor variant)	Congenital contractures of the limbs and face, hypotonia, and developmental delay	GLikely pathogenic
Select item 3251654	NM_052867.4(NALCN):c.515+6C>T	NALCN	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3251527	NM_052867.4(NALCN):c.1605C>A (p.Asp535Glu)	NALCN (D506E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3251517	NM_052867.4(NALCN):c.2619A>G (p.Thr873=)	NALCN	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 3242333	GRCh37/hg19 13q32.3-34(chr13:99892724-115108414)x3	ABHD13, ADPRHL1 +66 more	Copy number gain	not provided	GPathogenic
Select item 3237337	NM_052867.4(NALCN):c.951T>G (p.Phe317Leu)	NALCN (F317L)	Single nucleotide variant (missense variant)	Congenital contractures of the limbs and face, hypotonia, and developmental delay	GLikely pathogenic
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 3235771	NM_052867.4(NALCN):c.2118A>C (p.Lys706Asn)	NALCN (K677N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3235230	NM_052867.4(NALCN):c.707G>T (p.Gly236Val)	NALCN (G236V)	Single nucleotide variant (missense variant)	Congenital contractures of the limbs and face, hypotonia, and developmental delay	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 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 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 3174234	NM_052867.4(NALCN):c.4465C>T (p.Arg1489Cys)	NALCN (R1489C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3174227	NM_052867.4(NALCN):c.4258T>A (p.Tyr1420Asn)	NALCN (Y1420N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3174170	NM_052867.4(NALCN):c.3227G>A (p.Arg1076Lys)	NALCN (R1076K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3174160	NM_052867.4(NALCN):c.317G>A (p.Arg106His)	NALCN (R106H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3174150	NM_052867.4(NALCN):c.3162+5G>C	NALCN	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 3174132	NM_052867.4(NALCN):c.2680A>G (p.Ile894Val)	NALCN (I865V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3174078	NM_052867.4(NALCN):c.1117G>T (p.Ala373Ser)	NALCN (A373S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3148881	GRCh37/hg19 13q32.2-33.3(chr13:98773859-109277603)x1	ABHD13, ARGLU1 +34 more	Copy number loss	not provided	GPathogenic
Select item 3075805	NM_052867.4(NALCN):c.1519G>T (p.Gly507Trp)	NALCN (G478W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3068791	NM_052867.4(NALCN):c.1434+13A>G	NALCN	Single nucleotide variant (intron variant)	not specified	GLikely benign
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 3063309	GRCh37/hg19 13q31.1-34(chr13:84669397-115107733)x1	ABCC4, ABHD13 +97 more	Copy number loss	not specified	GPathogenic
Select item 3063294	GRCh37/hg19 13q31.1-34(chr13:82876219-115107733)x3	ABCC4, ABHD13 +98 more	Copy number gain	not specified	GPathogenic
Select item 3063280	GRCh37/hg19 13q21.31-33.1(chr13:64825656-103641349)x1	ABCC4, ACOD1 +81 more	Copy number loss	not specified	GPathogenic
Select item 3044284	NM_052867.4(NALCN):c.1026T>C (p.Thr342=)	NALCN	Single nucleotide variant (synonymous variant)	NALCN-related disorder	GLikely benign
Select item 3037406	NM_052867.4(NALCN):c.3748T>C (p.Phe1250Leu)	NALCN (F1221L +2 more)	Single nucleotide variant (missense variant)	NALCN-related disorder	GUncertain significance
Select item 3036529	NM_052867.4(NALCN):c.2364+6_2364+12del	NALCN	Deletion (splice donor variant)	NALCN-related disorder	GLikely benign
Select item 3033598	NM_052867.4(NALCN):c.663T>C (p.Ser221=)	NALCN	Single nucleotide variant (synonymous variant)	NALCN-related disorder	GLikely benign
Select item 3028948	NM_052867.4(NALCN):c.1209C>T (p.Ser403=)	NALCN, LOC126861831	Single nucleotide variant (synonymous variant)	NALCN-related disorder	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 3021349	NM_052867.4(NALCN):c.3909C>T (p.Gly1303=)	NALCN	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3021227	NM_052867.4(NALCN):c.2757+12C>T	NALCN	Single nucleotide variant (intron variant)	not provided	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 3017564	NM_052867.4(NALCN):c.4350C>T (p.Phe1450=)	NALCN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3014906	NM_052867.4(NALCN):c.2119-7T>C	NALCN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011531	NM_052867.4(NALCN):c.2744C>A (p.Ala915Glu)	NALCN (A886E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3011182	NM_052867.4(NALCN):c.1839+6T>C	NALCN	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3007894	NM_052867.4(NALCN):c.506A>G (p.Asn169Ser)	NALCN (N169S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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