"NALCN-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1305297	NM_052867.4(NALCN):c.5127G>A (p.Ala1709=)	NALCN, NALCN-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 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)	not provided +1 more	GBenign/Likely benign
Select item 706505	NM_052867.4(NALCN):c.4581C>T (p.Asp1527=)	NALCN	Single nucleotide variant (synonymous variant)	NALCN-related disorder +1 more	GBenign/Likely benign
Select item 2962801	NM_052867.4(NALCN):c.4578C>T (p.Gly1526=)	NALCN	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1933989	NM_052867.4(NALCN):c.4455C>T (p.Ile1485=)	NALCN	Single nucleotide variant (synonymous variant)	NALCN-related disorder +1 more	GLikely benign
Select item 1219910	NM_052867.4(NALCN):c.4209G>A (p.Pro1403=)	NALCN	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 707769	NM_052867.4(NALCN):c.4103+4G>C	NALCN	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2637253	NM_052867.4(NALCN):c.4072G>C (p.Gly1358Arg)	NALCN (G1329R +2 more)	Single nucleotide variant (missense variant)	NALCN-related disorder	GUncertain significance
Select item 706628	NM_052867.4(NALCN):c.3852C>A (p.Gly1284=)	NALCN	Single nucleotide variant (synonymous variant)	NALCN-related disorder +1 more	GConflicting classifications of pathogenicity
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 743432	NM_052867.4(NALCN):c.3495G>A (p.Thr1165=)	NALCN	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 779156	NM_052867.4(NALCN):c.3354G>A (p.Val1118=)	NALCN	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1033019	NM_052867.4(NALCN):c.3272C>A (p.Ala1091Glu)	NALCN (A1062E +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 760317	NM_052867.4(NALCN):c.3057+8A>T	NALCN	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1708474	NM_052867.4(NALCN):c.3050T>G (p.Ile1017Ser)	NALCN (I1017S +2 more)	Single nucleotide variant (missense variant)	NALCN-related disorder +1 more	GLikely pathogenic
Select item 2973384	NM_052867.4(NALCN):c.3036C>T (p.Ser1012=)	NALCN	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 702036	NM_052867.4(NALCN):c.2859C>T (p.Phe953=)	NALCN	Single nucleotide variant (synonymous variant)	NALCN-related disorder +3 more	GBenign/Likely benign
Select item 1215155	NM_052867.4(NALCN):c.2580-7C>T	NALCN	Single nucleotide variant (intron variant)	NALCN-related disorder +1 more	GLikely benign
Select item 756696	NM_052867.4(NALCN):c.2495A>G (p.Tyr832Cys)	NALCN (Y803C +2 more)	Single nucleotide variant (missense variant)	NALCN-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3036529	NM_052867.4(NALCN):c.2364+6_2364+12del	NALCN	Deletion (splice donor variant)	NALCN-related disorder	GLikely benign
Select item 262254	NM_052867.4(NALCN):c.2241C>T (p.Pro747=)	NALCN	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1223707	NM_052867.4(NALCN):c.2193-9T>G	NALCN	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 692011	NM_052867.4(NALCN):c.1799A>G (p.Asp600Gly)	NALCN (D571G +1 more)	Single nucleotide variant (missense variant)	Congenital contractures of the limbs and face, hypotonia, and developmental delay +1 more	GPathogenic/Likely pathogenic
Select item 2631026	NM_052867.4(NALCN):c.1751T>G (p.Leu584Arg)	NALCN (L555R +1 more)	Single nucleotide variant (missense variant)	NALCN-related disorder	GUncertain significance
Select item 701964	NM_052867.4(NALCN):c.1567A>G (p.Ile523Val)	NALCN (I494V +1 more)	Single nucleotide variant (missense variant)	NALCN-related disorder +1 more	GBenign/Likely benign
Select item 2984010	NM_052867.4(NALCN):c.1434+5T>C	NALCN	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2905526	NM_052867.4(NALCN):c.1425G>A (p.Thr475=)	NALCN	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2632967	NM_052867.4(NALCN):c.1315T>G (p.Cys439Gly)	NALCN (C410G +1 more)	Single nucleotide variant (missense variant)	NALCN-related disorder	GUncertain significance
Select item 1311398	NM_052867.4(NALCN):c.1280T>C (p.Val427Ala)	NALCN (V398A +1 more)	Single nucleotide variant (missense variant)	NALCN-related disorder +1 more	GConflicting classifications of pathogenicity
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 697703	NM_052867.4(NALCN):c.1115G>A (p.Arg372His)	NALCN (R372H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
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 2963685	NM_052867.4(NALCN):c.1014G>A (p.Ser338=)	NALCN	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1694708	NM_052867.4(NALCN):c.942+8G>A	NALCN	Single nucleotide variant (intron variant)	NALCN-related disorder +1 more	GBenign/Likely benign
Select item 1211697	NM_052867.4(NALCN):c.693A>G (p.Pro231=)	NALCN	Single nucleotide variant (synonymous variant)	not provided +1 more	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 2629457	NM_052867.4(NALCN):c.591_592insTA (p.Gln198fs)	NALCN (Q198fs)	Insertion (frameshift variant)	NALCN-related disorder	GLikely pathogenic
Select item 746431	NM_052867.4(NALCN):c.522G>A (p.Ser174=)	NALCN	Single nucleotide variant (synonymous variant)	NALCN-related disorder +1 more	GLikely benign
Select item 1950645	NM_052867.4(NALCN):c.318C>T (p.Arg106=)	NALCN	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1197188	NM_052867.4(NALCN):c.208G>T (p.Val70Leu)	NALCN (V70L)	Single nucleotide variant (missense variant)	NALCN-related disorder +1 more	GLikely benign
Select item 769853	NM_052867.4(NALCN):c.175A>G (p.Met59Val)	NALCN (M59V)	Single nucleotide variant (missense variant)	NALCN-related disorder +1 more	GLikely benign
Select item 1803485	NM_052867.4(NALCN):c.-4C>T	NALCN	Single nucleotide variant (5 prime UTR variant)	NALCN-related disorder +1 more	GUncertain significance

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Items: 44