NALCN[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 1096

<< First< Prev

Page of 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2049 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130009892, LOC130009893 +2050 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009819, LOC130009820 +2048 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2045 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2046 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC130009309, LOC130009310 +2041 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC130009607, LOC130009608 +2029 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2025 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LOC130009383, LOC130009384 +2022 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC126861859, LOC126861860 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC112163664, LOC112163665 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	LOC130009687, LOC130009688 +1557 more	Copy number gain	See cases	GPathogenic
Select item 148828	GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1	ABCC4, ABHD13 +1404 more	Copy number loss	See cases	GPathogenic
Select item 59893	GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3	LOC130009917, LOC130009918 +1288 more	Copy number gain	See cases	GPathogenic
Select item 59896	GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3	ARHGEF7-AS1, ARHGEF7-AS2 +1268 more	Copy number gain	See cases	GPathogenic
Select item 152729	GRCh38/hg38 13q31.1-34(chr13:78964223-114340331)x3	LOC124946344, LOC124946345 +706 more	Copy number gain	See cases	GPathogenic
Select item 149780	GRCh38/hg38 13q31.1-34(chr13:78999318-114327106)x3	LOC130010101, LOC130010102 +705 more	Copy number gain	See cases	GPathogenic
Select item 57470	GRCh38/hg38 13q31.1-33.2(chr13:82032938-106082542)x3	LOC126861817, LOC126861818 +344 more	Copy number gain	See cases	GPathogenic
Select item 153403	GRCh38/hg38 13q31.1-34(chr13:83288131-114342258)x3	ABCC4, ABHD13 +663 more	Copy number gain	See cases	GPathogenic
Select item 149290	GRCh38/hg38 13q31.1-34(chr13:86788927-114340331)x1	ABCC4, ABHD13 +650 more	Copy number loss	See cases	GPathogenic
Select item 148008	GRCh38/hg38 13q31.2-34(chr13:88937651-114327173)x3	ABCC4, ABHD13 +638 more	Copy number gain	See cases	GPathogenic
Select item 147510	GRCh38/hg38 13q31.3-33.3(chr13:93345058-109458154)x1	ABCC4, ABHD13 +348 more	Copy number loss	See cases	GPathogenic
Select item 150125	GRCh38/hg38 13q32.1-34(chr13:95744855-110863818)x3	LOC130010039, LOC130010040 +369 more	Copy number gain	See cases	GPathogenic
Select item 150277	GRCh38/hg38 13q32.1-34(chr13:96745059-114327106)x3	DOCK9-DT, EFNB2 +544 more	Copy number gain	See cases	GPathogenic
Select item 148962	GRCh38/hg38 13q32.1-33.3(chr13:97213871-109162916)x1	LOC124946325, LOC124946326 +271 more	Copy number loss	See cases	GPathogenic
Select item 144504	GRCh38/hg38 13q32.2-33.1(chr13:98008015-103697232)x3	BIVM, BIVM-ERCC5 +184 more	Copy number gain	See cases	GPathogenic
Select item 2579261	GRCh38/hg38 13q32.2-34(chr13:98343655-110990677)x1	ABHD13, ANKRD10 +342 more	Copy number loss	Holoprosencephaly 5	GPathogenic
Select item 57682	GRCh38/hg38 13q32.3-33.1(chr13:99034367-101217397)x1	CLYBL, CLYBL-AS1 +95 more	Copy number loss	See cases	GPathogenic
Select item 59921	GRCh38/hg38 13q32.3-34(chr13:99472316-114293545)x3	ABHD13, ADPRHL1 +421 more	Copy number gain	See cases	GPathogenic
Select item 59924	GRCh38/hg38 13q32.3-34(chr13:100039860-114327173)x3	LOC132090158, LOC132090159 +395 more	Copy number gain	See cases	GPathogenic
Select item 58280	GRCh38/hg38 13q32.3-33.1(chr13:101049614-101636191)x3	ITGBL1, LOC121468006 +6 more	Copy number gain	See cases	GUncertain significance
Select item 58178	GRCh38/hg38 13q32.3-33.1(chr13:101049614-101387801)x1	LOC126088081, LOC126861831 +2 more	Copy number loss	See cases	GUncertain significance
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 697435	NM_052867.4(NALCN):c.5024-10_5024-7dup	NALCN, NALCN-AS1	Duplication (intron variant)	NALCN-related disorder +1 more	GLikely benign
Select item 1277409	NM_052867.4(NALCN):c.5024-179dup	NALCN, NALCN-AS1	Duplication (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 1296774	NM_052867.4(NALCN):c.5023+268C>A	NALCN, NALCN-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 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 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 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 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 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 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 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 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 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)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 262264	NM_052867.4(NALCN):c.4977C>T (p.Asp1659=)	NALCN, NALCN-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	NALCN-related disorder +1 more	GBenign/Likely benign
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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

<< First< Prev

Page of 11