"GeneDx"[submitter] AND "CATIP-AS2"[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 1209167	NM_015488.5(PNKD):c.237-219C>T	CATIP-AS2, PNKD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 260659	NM_015488.5(PNKD):c.237-31G>T	CATIP-AS2, PNKD	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 415731	NM_015488.5(PNKD):c.237-9G>A	CATIP-AS2, PNKD	Single nucleotide variant (intron variant)	Paroxysmal nonkinesigenic dyskinesia +3 more	GBenign/Likely benign
Select item 334310	NM_015488.5(PNKD):c.265G>A (p.Gly89Arg)	CATIP-AS2, PNKD (G89R +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 432158	NM_015488.5(PNKD):c.293G>C (p.Arg98Pro)	PNKD, CATIP-AS2 (R98P +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 665073	NM_015488.5(PNKD):c.326C>T (p.Ser109Leu)	CATIP-AS2, PNKD (S109L +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia +1 more	GUncertain significance
Select item 468629	NM_015488.5(PNKD):c.350A>G (p.Asn117Ser)	CATIP-AS2, PNKD (N117S +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia +1 more	GBenign
Select item 260661	NM_015488.5(PNKD):c.353-26C>T	CATIP-AS2, PNKD	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 260660	NM_015488.5(PNKD):c.353-24C>T	CATIP-AS2, PNKD	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 2444579	NM_015488.5(PNKD):c.394A>G (p.Ser132Gly)	CATIP-AS2, PNKD (S108G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1215870	NM_015488.5(PNKD):c.433G>C (p.Ala145Pro)	CATIP-AS2, PNKD (A121P +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 334315	NM_015488.5(PNKD):c.455G>A (p.Arg152Gln)	CATIP-AS2, PNKD (R152Q +1 more)	Single nucleotide variant (missense variant)	PNKD-related condition +3 more	GBenign
Select item 334316	NM_015488.5(PNKD):c.466-11C>T	CATIP-AS2, PNKD	Single nucleotide variant (intron variant)	Paroxysmal nonkinesigenic dyskinesia +2 more	GBenign
Select item 334317	NM_015488.5(PNKD):c.466-3C>A	CATIP-AS2, PNKD	Single nucleotide variant (intron variant)	Paroxysmal nonkinesigenic dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 260662	NM_015488.5(PNKD):c.486G>A (p.Gly162=)	CATIP-AS2, PNKD	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia +3 more	GBenign
Select item 432515	NM_015488.5(PNKD):c.499G>A (p.Ala167Thr)	CATIP-AS2, PNKD (A167T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1204010	NM_015488.5(PNKD):c.524+73G>A	CATIP-AS2, PNKD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1273433	NM_015488.5(PNKD):c.524+108G>A	CATIP-AS2, PNKD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273715	NM_015488.5(PNKD):c.524+120C>T	CATIP-AS2, PNKD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296949	NM_015488.5(PNKD):c.525-193G>A	CATIP-AS2, PNKD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271373	NM_015488.5(PNKD):c.525-120C>T	CATIP-AS2, PNKD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 334320	NM_015488.5(PNKD):c.560G>A (p.Arg187Gln)	CATIP-AS2, PNKD (R187Q +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia 1 +2 more	GBenign/Likely benign
Select item 1055499	NM_015488.5(PNKD):c.583G>A (p.Gly195Arg)	CATIP-AS2, PNKD (G171R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 523930	NM_015488.5(PNKD):c.585del (p.Ser196fs)	CATIP-AS2, PNKD (S196fs +1 more)	Deletion (frameshift variant)	Paroxysmal nonkinesigenic dyskinesia 1 +3 more	GUncertain significance
Select item 1178968	NM_015488.5(PNKD):c.617+86C>G	CATIP-AS2, PNKD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273416	NM_015488.5(PNKD):c.617+143T>C	CATIP-AS2, PNKD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250259	NM_015488.5(PNKD):c.618-59A>G	CATIP-AS2, MIR6810 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1219889	NM_015488.5(PNKD):c.618-58C>T	CATIP-AS2, MIR6810 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 334323	NM_015488.5(PNKD):c.652C>A (p.Arg218=)	CATIP-AS2, PNKD	Single nucleotide variant (synonymous variant)	Paroxysmal nonkinesigenic dyskinesia 1 +2 more	GBenign
Select item 260663	NM_015488.5(PNKD):c.781+12C>T	CATIP-AS2, PNKD	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 1266164	NM_015488.5(PNKD):c.781+52C>T	CATIP-AS2, PNKD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1205779	NM_015488.5(PNKD):c.781+87C>T	CATIP-AS2, PNKD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214234	NM_015488.5(PNKD):c.781+297T>C	CATIP-AS2, PNKD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1236554	NM_015488.5(PNKD):c.782-246A>G	CATIP-AS2, PNKD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219667	NM_015488.5(PNKD):c.782-239C>T	CATIP-AS2, PNKD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 334326	NM_015488.5(PNKD):c.785G>A (p.Arg262Gln)	CATIP-AS2, PNKD (R262Q +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia 1 +2 more	GConflicting classifications of pathogenicity
Select item 536503	NM_015488.5(PNKD):c.835C>T (p.Leu279=)	CATIP-AS2, PNKD	Single nucleotide variant (synonymous variant)	PNKD-related condition +2 more	GBenign/Likely benign
Select item 1213035	NM_015488.5(PNKD):c.868+80C>T	CATIP-AS2, PNKD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1240953	NM_015488.5(PNKD):c.868+168C>G	CATIP-AS2, PNKD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1187125	NM_015488.5(PNKD):c.869-251G>A	PNKD, CATIP-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 468636	NM_015488.5(PNKD):c.887A>G (p.Glu296Gly)	CATIP-AS2, PNKD (E296G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 536504	NM_015488.5(PNKD):c.919G>A (p.Glu307Lys)	CATIP-AS2, PNKD (E307K +1 more)	Single nucleotide variant (missense variant)	PNKD-related condition +3 more	GBenign/Likely benign
Select item 334327	NM_015488.5(PNKD):c.939G>A (p.Arg313=)	CATIP-AS2, PNKD	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 567976	NM_015488.5(PNKD):c.964C>T (p.Arg322Trp)	CATIP-AS2, PNKD (R322W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1261920	NM_015488.5(PNKD):c.984+100A>G	CATIP-AS2, PNKD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 841872	NM_015488.5(PNKD):c.1009C>T (p.Arg337Cys)	CATIP-AS2, PNKD (R313C +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia +1 more	GUncertain significance
Select item 334329	NM_015488.5(PNKD):c.1140_1145del (p.Met381_His382del)	CATIP-AS2, PNKD	Deletion (inframe_deletion)	PNKD-related condition +3 more	GBenign/Likely benign
Select item 1399813	NM_015488.5(PNKD):c.1153A>G (p.Lys385Glu)	PNKD, CATIP-AS2 (K385E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 334332	NM_015488.5(PNKD):c.*92C>A	CATIP-AS2, PNKD	Single nucleotide variant (3 prime UTR variant)	Paroxysmal nonkinesigenic dyskinesia 1 +1 more	GBenign
Select item 334333	NM_015488.5(PNKD):c.*181G>C	CATIP-AS2, PNKD	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 898561	NM_015488.5(PNKD):c.*211C>T	CATIP-AS2, PNKD	Single nucleotide variant (3 prime UTR variant)	Paroxysmal nonkinesigenic dyskinesia 1 +1 more	GBenign/Likely benign

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Items: 52