1936[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 294899	NM_003465.3(CHIT1):c.*782C>T	CHIT1	Single nucleotide variant (3 prime UTR variant +1 more)	Chitotriosidase deficiency	GUncertain significance
Select item 874582	NM_003465.3(CHIT1):c.*754A>C	CHIT1	Single nucleotide variant (3 prime UTR variant +1 more)	Chitotriosidase deficiency	GUncertain significance
Select item 874583	NM_003465.3(CHIT1):c.*743C>G	CHIT1	Single nucleotide variant (3 prime UTR variant +1 more)	Chitotriosidase deficiency	GUncertain significance
Select item 294900	NM_003465.3(CHIT1):c.*729T>C	CHIT1	Single nucleotide variant (3 prime UTR variant +1 more)	Chitotriosidase deficiency	GUncertain significance
Select item 294901	NM_003465.3(CHIT1):c.*599C>G	CHIT1	Single nucleotide variant (3 prime UTR variant +1 more)	Chitotriosidase deficiency	GUncertain significance
Select item 294902	NM_003465.3(CHIT1):c.*534T>G	CHIT1	Single nucleotide variant (3 prime UTR variant +1 more)	Chitotriosidase deficiency	GBenign
Select item 874584	NM_003465.3(CHIT1):c.*450G>A	CHIT1	Single nucleotide variant (3 prime UTR variant +1 more)	Chitotriosidase deficiency	GUncertain significance
Select item 874585	NM_003465.3(CHIT1):c.*403G>A	CHIT1	Single nucleotide variant (3 prime UTR variant +1 more)	Chitotriosidase deficiency	GUncertain significance
Select item 294903	NM_003465.3(CHIT1):c.*280G>C	CHIT1	Single nucleotide variant (3 prime UTR variant +1 more)	Chitotriosidase deficiency	GUncertain significance
Select item 875507	NM_003465.3(CHIT1):c.*238C>T	CHIT1	Single nucleotide variant (3 prime UTR variant +1 more)	Chitotriosidase deficiency	GUncertain significance
Select item 294904	NM_003465.3(CHIT1):c.*143A>G	CHIT1	Single nucleotide variant (3 prime UTR variant +1 more)	Chitotriosidase deficiency	GUncertain significance
Select item 294905	NM_003465.3(CHIT1):c.*124A>C	CHIT1	Single nucleotide variant (3 prime UTR variant +1 more)	Chitotriosidase deficiency	GUncertain significance
Select item 875508	NM_003465.3(CHIT1):c.*119C>T	CHIT1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 294906	NM_003465.3(CHIT1):c.*99G>A	CHIT1	Single nucleotide variant (3 prime UTR variant +1 more)	Chitotriosidase deficiency	GUncertain significance
Select item 875509	NM_003465.3(CHIT1):c.*85G>A	CHIT1	Single nucleotide variant (3 prime UTR variant +1 more)	Chitotriosidase deficiency	GUncertain significance
Select item 294907	NM_003465.3(CHIT1):c.*57C>T	CHIT1	Single nucleotide variant (3 prime UTR variant +1 more)	Chitotriosidase deficiency	GUncertain significance
Select item 2284694	NM_003465.3(CHIT1):c.1376C>G (p.Ser459Cys)	CHIT1 (S459C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1631505	NM_003465.3(CHIT1):c.1358G>T (p.Gly453Val)	CHIT1 (G434V +1 more)	Single nucleotide variant (missense variant +1 more)	Chitotriosidase deficiency	GBenign
Select item 875510	NM_003465.3(CHIT1):c.1356A>G (p.Thr452=)	CHIT1	Single nucleotide variant (synonymous variant +1 more)	Chitotriosidase deficiency	GUncertain significance
Select item 294908	NM_003465.3(CHIT1):c.1352C>G (p.Pro451Arg)	CHIT1 (P451R +1 more)	Single nucleotide variant (missense variant +1 more)	Chitotriosidase deficiency +1 more	GUncertain significance
Select item 294909	NM_003465.3(CHIT1):c.1351C>T (p.Pro451Ser)	CHIT1 (P451S +1 more)	Single nucleotide variant (missense variant +1 more)	Chitotriosidase deficiency	GConflicting classifications of pathogenicity
Select item 558929	NM_003465.3(CHIT1):c.1350C>T (p.Cys450=)	CHIT1	Single nucleotide variant (synonymous variant +1 more)	Chitotriosidase deficiency	GConflicting classifications of pathogenicity
Select item 2900370	NM_003465.3(CHIT1):c.1344A>G (p.Gln448=)	CHIT1	Single nucleotide variant (synonymous variant +1 more)	Chitotriosidase deficiency	GLikely benign
Select item 769546	NM_003465.3(CHIT1):c.1326G>A (p.Ala442=)	CHIT1	Single nucleotide variant (synonymous variant +1 more)	Chitotriosidase deficiency	GConflicting classifications of pathogenicity
Select item 876524	NM_003465.3(CHIT1):c.1325C>A (p.Ala442Glu)	CHIT1 (A442E +1 more)	Single nucleotide variant (missense variant +1 more)	Chitotriosidase deficiency	GUncertain significance
Select item 472286	NM_003465.3(CHIT1):c.1325C>T (p.Ala442Val)	CHIT1 (A442V +1 more)	Single nucleotide variant (missense variant +1 more)	Chitotriosidase deficiency	GConflicting classifications of pathogenicity
Select item 294910	NM_003465.3(CHIT1):c.1325C>G (p.Ala442Gly)	CHIT1 (A442G +1 more)	Single nucleotide variant (missense variant +1 more)	Chitotriosidase deficiency +1 more	GBenign
Select item 2556229	NM_003465.3(CHIT1):c.1311C>A (p.Phe437Leu)	CHIT1 (F418L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 294911	NM_003465.3(CHIT1):c.1309T>C (p.Phe437Leu)	CHIT1 (F437L +1 more)	Single nucleotide variant (missense variant +1 more)	Chitotriosidase deficiency	GUncertain significance
Select item 294912	NM_003465.3(CHIT1):c.1295G>A (p.Arg432Gln)	CHIT1 (R432Q +1 more)	Single nucleotide variant (missense variant +1 more)	Chitotriosidase deficiency	GConflicting classifications of pathogenicity
Select item 873631	NM_003465.3(CHIT1):c.1294C>T (p.Arg432Trp)	CHIT1 (R432W +1 more)	Single nucleotide variant (missense variant +1 more)	Chitotriosidase deficiency +1 more	GUncertain significance
Select item 3144367	NM_003465.3(CHIT1):c.1286C>A (p.Pro429His)	CHIT1 (P410H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 294913	NM_003465.3(CHIT1):c.1281C>G (p.Leu427=)	CHIT1	Single nucleotide variant (synonymous variant +1 more)	Chitotriosidase deficiency	GUncertain significance
Select item 294914	NM_003465.3(CHIT1):c.1265G>A (p.Gly422Asp)	CHIT1 (G422D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3267031	NM_003465.3(CHIT1):c.1253C>T (p.Thr418Met)	CHIT1 (T399M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236159	NM_003465.3(CHIT1):c.1246C>A (p.Gln416Lys)	CHIT1 (Q397K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267033	NM_003465.3(CHIT1):c.1244G>A (p.Gly415Glu)	CHIT1 (G396E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2817629	NM_003465.3(CHIT1):c.1191T>C (p.Leu397=)	CHIT1	Single nucleotide variant (synonymous variant +1 more)	Chitotriosidase deficiency	GLikely benign
Select item 294915	NM_003465.3(CHIT1):c.1161T>C (p.Leu387=)	CHIT1	Single nucleotide variant (synonymous variant +1 more)	Chitotriosidase deficiency	GConflicting classifications of pathogenicity
Select item 1697339	NM_003465.3(CHIT1):c.1156+6_1156+9del	CHIT1	Microsatellite (splice donor variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 294916	NM_003465.3(CHIT1):c.1156+4A>G	CHIT1	Single nucleotide variant (intron variant)	Chitotriosidase deficiency	GConflicting classifications of pathogenicity
Select item 294917	NM_003465.3(CHIT1):c.1155_1156+2del	CHIT1	Deletion (splice donor variant)	Chitotriosidase deficiency	GConflicting classifications of pathogenicity
Select item 558931	NM_003465.3(CHIT1):c.1155G>A (p.Leu385=)	CHIT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 873632	NM_003465.3(CHIT1):c.1145G>A (p.Arg382Gln)	CHIT1 (R382Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2162065	NM_003465.3(CHIT1):c.1144C>T (p.Arg382Trp)	CHIT1 (R382W +1 more)	Single nucleotide variant (missense variant +1 more)	Chitotriosidase deficiency	GBenign
Select item 873633	NM_003465.3(CHIT1):c.1139C>T (p.Thr380Met)	CHIT1 (T361M +1 more)	Single nucleotide variant (missense variant +1 more)	Chitotriosidase deficiency	GConflicting classifications of pathogenicity
Select item 2143534	NM_003465.3(CHIT1):c.1126C>T (p.Pro376Ser)	CHIT1 (P357S +1 more)	Single nucleotide variant (missense variant +1 more)	Chitotriosidase deficiency	GBenign
Select item 585107	NM_003465.3(CHIT1):c.1125C>A (p.Tyr375Ter)	CHIT1 (Y375* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	Gnot provided
Select item 874628	NM_003465.3(CHIT1):c.1121G>T (p.Arg374Leu)	CHIT1 (R355L +1 more)	Single nucleotide variant (missense variant +1 more)	Chitotriosidase deficiency	GUncertain significance
Select item 2494430	NM_003465.3(CHIT1):c.1111A>T (p.Asn371Tyr)	CHIT1 (N352Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 874629	NM_003465.3(CHIT1):c.1099G>A (p.Gly367Ser)	CHIT1 (G348S +1 more)	Single nucleotide variant (missense variant +1 more)	Chitotriosidase deficiency	GConflicting classifications of pathogenicity
Select item 2053765	NM_003465.3(CHIT1):c.1098C>T (p.Ala366=)	CHIT1	Single nucleotide variant (synonymous variant +1 more)	Chitotriosidase deficiency	GLikely benign
Select item 3144365	NM_003465.3(CHIT1):c.1097C>A (p.Ala366Asp)	CHIT1 (A366D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 294918	NM_003465.3(CHIT1):c.1090G>A (p.Asp364Asn)	CHIT1 (D364N +1 more)	Single nucleotide variant (missense variant +1 more)	Chitotriosidase deficiency	GUncertain significance
Select item 294919	NM_003465.3(CHIT1):c.1076C>G (p.Ala359Gly)	CHIT1 (A359G +1 more)	Single nucleotide variant (missense variant +1 more)	Chitotriosidase deficiency	GUncertain significance
Select item 294920	NM_003465.3(CHIT1):c.1049_1072dup (p.Trp358Ter)	CHIT1 (W339* +1 more)	Duplication (nonsense +1 more)	Chitotriosidase deficiency	GBenign/Likely benign
Select item 73491	NM_003465.3(CHIT1):c.1073G>A (p.Trp358Ter)	CHIT1 (W358* +1 more)	Single nucleotide variant (nonsense +1 more)	Chitotriosidase deficiency	GUncertain significance
Select item 2569934	NM_003465.3(CHIT1):c.1067T>C (p.Met356Thr)	CHIT1 (M356T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 472285	NM_003465.3(CHIT1):c.1060G>A (p.Gly354Arg)	CHIT1 (G354R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 9524	NM_003465.3(CHIT1):c.[1060G>A;1155G>A1156+6_1156+9del]	CHIT1 (G354R +1 more)	Single nucleotide variant (missense variant +3 more)	Chitotriosidase deficiency	GAffects
Select item 1167640	NM_003465.3(CHIT1):c.1059C>T (p.Gly353=)	CHIT1	Single nucleotide variant (synonymous variant +1 more)	Chitotriosidase deficiency	GBenign
Select item 294921	NM_003465.3(CHIT1):c.1044G>T (p.Lys348Asn)	CHIT1 (K348N +1 more)	Single nucleotide variant (missense variant +1 more)	Chitotriosidase deficiency	GConflicting classifications of pathogenicity
Select item 1575924	NM_003465.3(CHIT1):c.1033A>G (p.Ser345Gly)	CHIT1 (S326G +1 more)	Single nucleotide variant (missense variant +1 more)	Chitotriosidase deficiency	GLikely benign
Select item 791010	NM_003465.3(CHIT1):c.965_993del (p.Val322fs)	CHIT1 (V303fs +1 more)	Deletion (frameshift variant +1 more)	Chitotriosidase deficiency	GBenign
Select item 1165707	NM_003465.3(CHIT1):c.988C>G (p.Gln330Glu)	CHIT1 (Q311E +1 more)	Single nucleotide variant (missense variant +1 more)	Chitotriosidase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 715942	NM_003465.3(CHIT1):c.984C>T (p.Asp328=)	CHIT1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2750694	NM_003465.3(CHIT1):c.981G>A (p.Arg327=)	CHIT1	Single nucleotide variant (synonymous variant +1 more)	Chitotriosidase deficiency	GLikely benign
Select item 2736221	NM_003465.3(CHIT1):c.980G>A (p.Arg327Gln)	CHIT1 (R308Q +1 more)	Single nucleotide variant (missense variant +1 more)	Chitotriosidase deficiency	GBenign
Select item 1924943	NM_003465.3(CHIT1):c.917T>C (p.Val306Ala)	CHIT1 (V287A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 874630	NM_003465.3(CHIT1):c.916-9C>G	CHIT1	Single nucleotide variant (intron variant)	Chitotriosidase deficiency	GUncertain significance
Select item 720227	NM_003465.3(CHIT1):c.915A>G (p.Glu305=)	CHIT1	Single nucleotide variant (synonymous variant +1 more)	Chitotriosidase deficiency	GLikely benign
Select item 2839170	NM_003465.3(CHIT1):c.900G>A (p.Met300Ile)	CHIT1 (M300I +1 more)	Single nucleotide variant (missense variant +1 more)	Chitotriosidase deficiency	GBenign
Select item 632098	NM_003465.3(CHIT1):c.838A>T (p.Arg280Ter)	CHIT1 (R280* +1 more)	Single nucleotide variant (nonsense +1 more)	Chitotriosidase deficiency	GUncertain significance
Select item 294922	NM_003465.3(CHIT1):c.807C>T (p.Arg269=)	CHIT1	Single nucleotide variant (synonymous variant +1 more)	Chitotriosidase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2405378	NM_003465.3(CHIT1):c.806G>A (p.Arg269His)	CHIT1 (R269H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2746729	NM_003465.3(CHIT1):c.802G>A (p.Gly268Arg)	CHIT1 (G249R +1 more)	Single nucleotide variant (missense variant +1 more)	Chitotriosidase deficiency	GLikely benign
Select item 294923	NM_003465.3(CHIT1):c.780G>A (p.Leu260=)	CHIT1	Single nucleotide variant (synonymous variant +1 more)	Chitotriosidase deficiency	GConflicting classifications of pathogenicity
Select item 3144370	NM_003465.3(CHIT1):c.779T>C (p.Leu260Pro)	CHIT1 (L241P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219921	NM_003465.3(CHIT1):c.769G>T (p.Ala257Ser)	CHIT1 (A238S +1 more)	Single nucleotide variant (missense variant +1 more)	Chitotriosidase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 294924	NM_003465.3(CHIT1):c.767C>T (p.Pro256Leu)	CHIT1 (P256L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 718841	NM_003465.3(CHIT1):c.765C>A (p.Thr255=)	CHIT1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 558932	NM_003465.3(CHIT1):c.764C>G (p.Thr255Ser)	CHIT1 (T255S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 788174	NM_003465.3(CHIT1):c.759G>A (p.Lys253=)	CHIT1	Single nucleotide variant (synonymous variant +1 more)	Chitotriosidase deficiency	GConflicting classifications of pathogenicity
Select item 3144369	NM_003465.3(CHIT1):c.747G>C (p.Gln249His)	CHIT1 (Q249H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1555058	NM_003465.3(CHIT1):c.747G>A (p.Gln249=)	CHIT1	Single nucleotide variant (synonymous variant +1 more)	Chitotriosidase deficiency	GLikely benign
Select item 875564	NM_003465.3(CHIT1):c.739G>A (p.Val247Met)	CHIT1 (V247M +1 more)	Single nucleotide variant (missense variant +1 more)	Chitotriosidase deficiency	GUncertain significance
Select item 2278651	NM_003465.3(CHIT1):c.731A>T (p.Asp244Val)	CHIT1 (D244V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 720228	NM_003465.3(CHIT1):c.729+5G>A	CHIT1	Single nucleotide variant (intron variant)	Chitotriosidase deficiency	GLikely benign
Select item 2195200	NM_003465.3(CHIT1):c.727G>A (p.Val243Met)	CHIT1 (V224M +1 more)	Single nucleotide variant (missense variant +1 more)	Chitotriosidase deficiency	GBenign
Select item 734514	NM_003465.3(CHIT1):c.726C>T (p.Asn242=)	CHIT1	Single nucleotide variant (synonymous variant +1 more)	Chitotriosidase deficiency	GLikely benign
Select item 1956417	NM_003465.3(CHIT1):c.720C>T (p.Ser240=)	CHIT1	Single nucleotide variant (synonymous variant +1 more)	Chitotriosidase deficiency	GLikely benign
Select item 2201761	NM_003465.3(CHIT1):c.717C>T (p.Ala239=)	CHIT1	Single nucleotide variant (synonymous variant +1 more)	Chitotriosidase deficiency	GLikely benign
Select item 2914992	NM_003465.3(CHIT1):c.708T>C (p.Gly236=)	CHIT1	Single nucleotide variant (synonymous variant +1 more)	Chitotriosidase deficiency	GLikely benign
Select item 1166914	NM_003465.3(CHIT1):c.702G>T (p.Glu234Asp)	CHIT1 (E215D +1 more)	Single nucleotide variant (missense variant +1 more)	Chitotriosidase deficiency	GBenign
Select item 2494088	NM_003465.3(CHIT1):c.692G>C (p.Arg231Thr)	CHIT1 (R212T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252243	NM_003465.3(CHIT1):c.690G>C (p.Lys230Asn)	CHIT1 (K230N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1551786	NM_003465.3(CHIT1):c.678C>A (p.Ser226Arg)	CHIT1 (S207R +1 more)	Single nucleotide variant (missense variant +1 more)	Chitotriosidase deficiency	GBenign
Select item 2914052	NM_003465.3(CHIT1):c.665C>T (p.Thr222Met)	CHIT1 (T222M +1 more)	Single nucleotide variant (missense variant +1 more)	Chitotriosidase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 3267032	NM_003465.3(CHIT1):c.644A>G (p.His215Arg)	CHIT1 (H196R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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