ClinVar for Gene (Select 1118) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 209

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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
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 3267030	NM_003465.3(CHIT1):c.586G>A (p.Glu196Lys)	CHIT1 (E196K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	RPS6KC1, SERTAD4 +185 more	Deletion	not provided	GPathogenic
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 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 3144368	NM_003465.3(CHIT1):c.221A>G (p.Glu74Gly)	CHIT1 (E74G)	Single nucleotide variant (missense variant +1 more)	not specified	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 3144366	NM_003465.3(CHIT1):c.115G>C (p.Ala39Pro)	CHIT1 (A39P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 3062955	GRCh37/hg19 1q32.1(chr1:199373229-204335027)x3	ADIPOR1, ADORA1 +58 more	Copy number gain	not specified	GLikely pathogenic
Select item 3062655	GRCh37/hg19 1q31.3-32.1(chr1:197216705-203683110)x1	ADIPOR1, ADORA1 +57 more	Copy number loss	not specified	GLikely pathogenic
Select item 3023893	NM_003465.3(CHIT1):c.631G>A (p.Ala211Thr)	CHIT1 (A192T +1 more)	Single nucleotide variant (missense variant +1 more)	Chitotriosidase deficiency	GBenign
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 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 2910034	NM_003465.3(CHIT1):c.175G>A (p.Ala59Thr)	CHIT1 (A59T)	Single nucleotide variant (missense variant +1 more)	Chitotriosidase deficiency	GBenign
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 2867817	NM_003465.3(CHIT1):c.31A>G (p.Met11Val)	CHIT1 (M11V)	Single nucleotide variant (missense variant +1 more)	Chitotriosidase deficiency	GBenign
Select item 2848639	NM_003465.3(CHIT1):c.510C>G (p.Ala170=)	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 2817629	NM_003465.3(CHIT1):c.1191T>C (p.Leu397=)	CHIT1	Single nucleotide variant (synonymous variant +1 more)	Chitotriosidase deficiency	GLikely benign
Select item 2770696	NM_003465.3(CHIT1):c.481-6C>A	CHIT1	Single nucleotide variant (intron variant)	Chitotriosidase deficiency	GBenign
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 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 2745712	NM_003465.3(CHIT1):c.543T>G (p.Ser181Arg)	CHIT1 (S162R +1 more)	Single nucleotide variant (missense variant +1 more)	Chitotriosidase deficiency	GBenign
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 2724884	NM_003465.3(CHIT1):c.219C>T (p.Asp73=)	CHIT1	Single nucleotide variant (synonymous variant +1 more)	Chitotriosidase deficiency	GLikely benign
Select item 2721994	NM_003465.3(CHIT1):c.8G>C (p.Arg3Pro)	CHIT1 (R3P)	Single nucleotide variant (missense variant +1 more)	Chitotriosidase deficiency	GBenign
Select item 2713161	NM_003465.3(CHIT1):c.501G>A (p.Gln167=)	CHIT1	Single nucleotide variant (synonymous variant +1 more)	Chitotriosidase deficiency	GBenign
Select item 2700888	NM_003465.3(CHIT1):c.258-3C>T	CHIT1	Single nucleotide variant (intron variant)	Chitotriosidase deficiency	GBenign
Select item 2639816	NM_003465.3(CHIT1):c.546A>T (p.Ala182=)	CHIT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2618057	NM_003465.3(CHIT1):c.197T>A (p.Leu66Gln)	CHIT1 (L66Q)	Single nucleotide variant (missense variant +1 more)	not specified	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 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 2509790	NM_003465.3(CHIT1):c.7C>T (p.Arg3Trp)	CHIT1 (R3W)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
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 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 2425293	NC_000001.10:g.(?_200522516)_(206945780_?)dup	ADIPOR1, ADORA1 +90 more	Duplication	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 2422293	NC_000001.10:g.(?_200522516)_(208391267_?)dup	ADIPOR1, ADORA1 +110 more	Duplication	not provided	GUncertain significance
Select item 2413466	NM_003465.3(CHIT1):c.303C>T (p.Phe101=)	CHIT1	Single nucleotide variant (synonymous variant +2 more)	Chitotriosidase deficiency	GLikely benign
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 2402717	NM_003465.3(CHIT1):c.601G>A (p.Ala201Thr)	CHIT1 (A201T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384913	NM_003465.3(CHIT1):c.493G>A (p.Ala165Thr)	CHIT1 (A146T +1 more)	Single nucleotide variant (missense variant +1 more)	Chitotriosidase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2377539	NM_003465.3(CHIT1):c.527A>G (p.Glu176Gly)	CHIT1 (E157G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369912	NM_003465.3(CHIT1):c.284C>T (p.Ala95Val)	CHIT1 (A95V)	Single nucleotide variant (missense variant +2 more)	not specified	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 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 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 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 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 2201761	NM_003465.3(CHIT1):c.717C>T (p.Ala239=)	CHIT1	Single nucleotide variant (synonymous variant +1 more)	Chitotriosidase deficiency	GLikely benign
Select item 2201266	NM_003465.3(CHIT1):c.483C>G (p.Asp161Glu)	CHIT1 (D142E +1 more)	Single nucleotide variant (missense variant +1 more)	Chitotriosidase deficiency	GBenign
Select item 2199952	NM_003465.3(CHIT1):c.105A>T (p.Arg35Ser)	CHIT1 (R35S)	Single nucleotide variant (missense variant +1 more)	Chitotriosidase deficiency	GBenign
Select item 2195227	NM_003465.3(CHIT1):c.435G>C (p.Gln145His)	CHIT1 (Q145H +1 more)	Single nucleotide variant (missense variant +1 more)	Chitotriosidase deficiency	GBenign
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 2194556	NM_003465.3(CHIT1):c.25+8G>A	CHIT1	Single nucleotide variant (intron variant)	Chitotriosidase deficiency	GLikely benign
Select item 2183598	NM_003465.3(CHIT1):c.181A>G (p.Met61Val)	CHIT1 (M61V)	Single nucleotide variant (missense variant +1 more)	Chitotriosidase deficiency	GBenign
Select item 2182626	NM_003465.3(CHIT1):c.289G>A (p.Gly97Arg)	CHIT1 (G97R)	Single nucleotide variant (missense variant +2 more)	Chitotriosidase deficiency	GBenign
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 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 2120786	NM_003465.3(CHIT1):c.164T>A (p.Ile55Asn)	CHIT1 (I55N)	Single nucleotide variant (missense variant +1 more)	Chitotriosidase deficiency	GBenign
Select item 2066408	NM_003465.3(CHIT1):c.481-15G>A	CHIT1	Single nucleotide variant (intron variant)	Chitotriosidase deficiency	GLikely benign
Select item 2059599	NM_003465.3(CHIT1):c.168C>T (p.Tyr56=)	CHIT1	Single nucleotide variant (synonymous variant +1 more)	Chitotriosidase deficiency	GLikely benign
Select item 2058229	NM_003465.3(CHIT1):c.288C>T (p.Ile96=)	CHIT1	Single nucleotide variant (synonymous variant +2 more)	Chitotriosidase deficiency	GLikely benign
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 2043529	NM_003465.3(CHIT1):c.56-9A>G	CHIT1	Single nucleotide variant (intron variant)	Chitotriosidase deficiency	GLikely benign
Select item 2038901	NM_003465.3(CHIT1):c.25+8G>T	CHIT1	Single nucleotide variant (intron variant)	Chitotriosidase deficiency	GLikely benign
Select item 1985070	NM_003465.3(CHIT1):c.578C>G (p.Ala193Gly)	CHIT1 (A193G +1 more)	Single nucleotide variant (missense variant +1 more)	Chitotriosidase deficiency	GBenign
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 1947792	NM_003465.3(CHIT1):c.69A>T (p.Lys23Asn)	CHIT1 (K23N)	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 1908206	NM_003465.3(CHIT1):c.25+11G>A	CHIT1	Single nucleotide variant (intron variant)	Chitotriosidase deficiency	GLikely benign
Select item 1903355	NM_003465.3(CHIT1):c.55+20G>T	CHIT1	Single nucleotide variant (intron variant)	Chitotriosidase deficiency	GLikely benign
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	ASPM, IPO9 +211 more	Copy number gain	not provided	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
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 1662756	NM_003465.3(CHIT1):c.25+7C>T	CHIT1	Single nucleotide variant (intron variant)	Chitotriosidase deficiency	GLikely benign
Select item 1646840	NM_003465.3(CHIT1):c.461G>A (p.Arg154His)	CHIT1 (R135H +1 more)	Single nucleotide variant (missense variant +1 more)	Chitotriosidase deficiency	GBenign
Select item 1635946	NM_003465.3(CHIT1):c.26-15C>T	CHIT1	Single nucleotide variant (intron variant)	Chitotriosidase deficiency	GBenign
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 1608684	NM_003465.3(CHIT1):c.231C>T (p.Tyr77=)	CHIT1	Single nucleotide variant (synonymous variant +1 more)	Chitotriosidase deficiency	GLikely benign
Select item 1600219	NM_003465.3(CHIT1):c.243T>G (p.Asn81Lys)	CHIT1 (N81K)	Single nucleotide variant (missense variant +1 more)	Chitotriosidase deficiency	GBenign
Select item 1585267	NM_003465.3(CHIT1):c.480+17C>T	CHIT1	Single nucleotide variant (intron variant)	Chitotriosidase deficiency	GLikely benign
Select item 1576538	NM_003465.3(CHIT1):c.263C>G (p.Pro88Arg)	CHIT1 (P88R)	Single nucleotide variant (missense variant +2 more)	Chitotriosidase deficiency	GBenign
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 1564214	NM_003465.3(CHIT1):c.369C>T (p.Ala123=)	CHIT1	Single nucleotide variant (synonymous variant +1 more)	Chitotriosidase deficiency	GLikely benign
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 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 1455077	NM_003465.3(CHIT1):c.258-11G>A	CHIT1	Single nucleotide variant (intron variant)	Chitotriosidase deficiency	GLikely benign
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 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 1166437	NM_003465.3(CHIT1):c.529C>T (p.Arg177Cys)	CHIT1 (R158C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
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 1148523	NM_003465.3(CHIT1):c.200G>T (p.Ser67Ile)	CHIT1 (S67I)	Single nucleotide variant (missense variant +1 more)	Chitotriosidase deficiency	GLikely benign
Select item 1041975	NM_003465.3(CHIT1):c.335C>T (p.Thr112Met)	CHIT1 (T112M +1 more)	Single nucleotide variant (missense variant +1 more)	Chitotriosidase deficiency	GBenign
Select item 1010789	NM_003465.3(CHIT1):c.460C>T (p.Arg154Cys)	CHIT1 (R135C +1 more)	Single nucleotide variant (missense variant +1 more)	Chitotriosidase deficiency	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 972964	GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3	CD34, MDM4 +145 more	Copy number gain	not provided	Gnot provided
Select item 967341	NM_003465.3(CHIT1):c.548C>T (p.Ala183Val)	CHIT1 (A183V +1 more)	Single nucleotide variant (missense variant +1 more)	Chitotriosidase deficiency	GBenign

<< First< Prev

Page of 3