ClinVar for Gene (Select 3141) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 1065

<< First< Prev

Page of 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382686	NM_001352514.2(HLCS):c.1483G>A (p.Glu495Lys)	HLCS (E348K +1 more)	Single nucleotide variant (missense variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 3343749	NM_001352514.2(HLCS):c.1423G>A (p.Ala475Thr)	HLCS (A328T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3336293	NM_001352514.2(HLCS):c.1973A>T (p.Asn658Ile)	HLCS (N511I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3284435	NM_001352514.2(HLCS):c.899G>A (p.Arg300Lys)	HLCS (R153K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3284434	NM_001352514.2(HLCS):c.2464C>T (p.His822Tyr)	HLCS (H822Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3251808	NM_001352514.2(HLCS):c.1150C>G (p.Leu384Val)	HLCS (L237V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3248159	NC_000021.8:g.(?_37133458)_(38884834_?)dup	CBR1, CBR3 +12 more	Duplication	DYRK1A-related intellectual disability syndrome	GUncertain significance
Select item 3248147	NC_000021.8:g.(?_37707582)_(38139606_?)del	CHAF1B, CLDN14 +3 more	Deletion	Holocarboxylase synthetase deficiency	GPathogenic
Select item 3248146	NC_000021.8:g.(?_38128823)_(38139606_?)del	HLCS	Deletion	Holocarboxylase synthetase deficiency	GPathogenic
Select item 3248145	NC_000021.8:g.(?_38302531)_(38302753_?)del	HLCS	Deletion	Holocarboxylase synthetase deficiency	GPathogenic
Select item 3242283	GRCh37/hg19 21q11.2-22.3(chr21:15380398-48100790)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not provided	GPathogenic
Select item 3241739	NM_001352514.2(HLCS):c.749del (p.Leu250fs)	HLCS (L103fs +1 more)	Deletion (frameshift variant +1 more)	Holocarboxylase synthetase deficiency	GLikely pathogenic
Select item 3241738	NM_001352514.2(HLCS):c.493+2T>C	HLCS	Single nucleotide variant (splice donor variant)	Holocarboxylase synthetase deficiency	GLikely pathogenic
Select item 3241737	NM_001352514.2(HLCS):c.1438-1G>C	HLCS	Single nucleotide variant (splice acceptor variant)	Holocarboxylase synthetase deficiency	GLikely pathogenic
Select item 3241736	NM_001352514.2(HLCS):c.2451-2A>G	HLCS	Single nucleotide variant (splice acceptor variant)	Holocarboxylase synthetase deficiency	GLikely pathogenic
Select item 3106165	NM_001352514.2(HLCS):c.2412C>G (p.Asn804Lys)	HLCS (N804K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3106164	NM_001352514.2(HLCS):c.2303A>G (p.Asn768Ser)	HLCS (N621S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3106163	NM_001352514.2(HLCS):c.1775C>T (p.Ala592Val)	HLCS (A445V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3062431	GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not specified	GPathogenic
Select item 3062429	GRCh37/hg19 21q22.11-22.3(chr21:34092685-48097372)x3	CBR1, CBR3 +139 more	Copy number gain	not specified	GPathogenic
Select item 3062428	GRCh37/hg19 21q22.12-22.3(chr21:35872675-48097372)x1	KCNJ15, KCNJ6 +118 more	Copy number loss	not specified	GPathogenic
Select item 3062423	GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3	ABCG1, ADAMTS1 +201 more	Copy number gain	not specified	GPathogenic
Select item 3062420	GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3	ABCG1, ADARB1 +186 more	Copy number gain	not specified	GPathogenic
Select item 3061789	NM_001352514.2(HLCS):c.1610C>G (p.Ser537Ter)	HLCS (S390* +1 more)	Single nucleotide variant (nonsense +1 more)	Holocarboxylase synthetase deficiency	GLikely pathogenic
Select item 3041218	NM_001352514.2(HLCS):c.27C>T (p.Tyr9=)	HLCS, HLCS-AS1 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	HLCS-related disorder	GLikely benign
Select item 3022417	NM_001352514.2(HLCS):c.924A>G (p.Ala308=)	HLCS	Single nucleotide variant (synonymous variant +1 more)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 3021573	NM_001352514.2(HLCS):c.1956C>A (p.Gly652=)	HLCS	Single nucleotide variant (synonymous variant +1 more)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 3020537	NM_001352514.2(HLCS):c.597G>A (p.Lys199=)	HLCS	Single nucleotide variant (synonymous variant +1 more)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 3019956	NM_001352514.2(HLCS):c.493+20G>A	HLCS	Single nucleotide variant (intron variant)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 3018010	NM_001352514.2(HLCS):c.546C>T (p.Asn182=)	HLCS	Single nucleotide variant (synonymous variant +1 more)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 3017138	NM_001352514.2(HLCS):c.2122-13G>A	HLCS	Single nucleotide variant (intron variant)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 3012433	NM_001352514.2(HLCS):c.2373G>T (p.Leu791=)	HLCS	Single nucleotide variant (synonymous variant +1 more)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 3009968	NM_001352514.2(HLCS):c.1581T>G (p.Val527=)	HLCS	Single nucleotide variant (synonymous variant +1 more)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 3009821	NM_001352514.2(HLCS):c.493+12T>C	HLCS	Single nucleotide variant (intron variant)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 3008529	NM_001352514.2(HLCS):c.1437+1G>A	HLCS	Single nucleotide variant (splice donor variant)	Holocarboxylase synthetase deficiency	GLikely pathogenic
Select item 3008241	NM_001352514.2(HLCS):c.1161A>G (p.Gly387=)	HLCS	Single nucleotide variant (synonymous variant +1 more)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 3008237	NM_001352514.2(HLCS):c.2121+14A>G	HLCS	Single nucleotide variant (intron variant)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 3007689	NM_001352514.2(HLCS):c.1438-17C>T	HLCS	Single nucleotide variant (intron variant)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 3005908	NM_001352514.2(HLCS):c.1494dup (p.Leu500fs)	HLCS (L353fs +1 more)	Duplication (frameshift variant +1 more)	Holocarboxylase synthetase deficiency	GPathogenic
Select item 3005782	NM_001352514.2(HLCS):c.2451-15G>C	HLCS	Single nucleotide variant (intron variant)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 3002782	NM_001352514.2(HLCS):c.2184C>G (p.Gly728=)	HLCS	Single nucleotide variant (synonymous variant +1 more)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 3002473	NM_001352514.2(HLCS):c.2040G>A (p.Gln680=)	HLCS	Single nucleotide variant (synonymous variant +1 more)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 3001822	NM_001352514.2(HLCS):c.1893-11C>G	HLCS	Single nucleotide variant (intron variant)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 3000880	NM_001352514.2(HLCS):c.655G>T (p.Glu219Ter)	HLCS (E72* +1 more)	Single nucleotide variant (nonsense +1 more)	Holocarboxylase synthetase deficiency	GPathogenic
Select item 2991828	NM_001352514.2(HLCS):c.494-17T>A	HLCS	Single nucleotide variant (intron variant)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 2989967	NM_001352514.2(HLCS):c.1044G>A (p.Leu348=)	HLCS	Single nucleotide variant (synonymous variant +1 more)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 2987891	NM_001352514.2(HLCS):c.1893-14C>T	HLCS	Single nucleotide variant (intron variant)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 2986138	NM_001352514.2(HLCS):c.2064C>T (p.Val688=)	HLCS	Single nucleotide variant (synonymous variant +1 more)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 2981746	NM_001352514.2(HLCS):c.1830G>A (p.Lys610=)	HLCS	Single nucleotide variant (synonymous variant +1 more)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 2976203	NM_001352514.2(HLCS):c.1242C>T (p.Val414=)	HLCS	Single nucleotide variant (synonymous variant +1 more)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 2971466	NM_001352514.2(HLCS):c.1980G>A (p.Trp660Ter)	HLCS (W513* +1 more)	Single nucleotide variant (nonsense +1 more)	Holocarboxylase synthetase deficiency	GPathogenic
Select item 2959955	NM_001352514.2(HLCS):c.2087T>C (p.Val696Ala)	HLCS (V549A +1 more)	Single nucleotide variant (missense variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 2957994	NM_001352514.2(HLCS):c.1620+17G>A	HLCS	Single nucleotide variant (intron variant)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 2920274	NM_001352514.2(HLCS):c.1287C>T (p.Leu429=)	HLCS	Single nucleotide variant (synonymous variant +1 more)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 2919763	NM_001352514.2(HLCS):c.2298A>G (p.Glu766=)	HLCS	Single nucleotide variant (synonymous variant +1 more)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 2918859	NM_001352514.2(HLCS):c.570G>T (p.Pro190=)	HLCS	Single nucleotide variant (synonymous variant +1 more)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 2918858	NM_001352514.2(HLCS):c.585T>A (p.Ser195=)	HLCS	Single nucleotide variant (synonymous variant +1 more)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 2915558	NM_001352514.2(HLCS):c.1551C>T (p.Thr517=)	HLCS	Single nucleotide variant (synonymous variant +1 more)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 2915217	NM_001352514.2(HLCS):c.1437+10G>A	HLCS	Single nucleotide variant (intron variant)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 2913846	NM_001352514.2(HLCS):c.517C>T (p.Leu173=)	HLCS	Single nucleotide variant (synonymous variant +1 more)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 2913580	NM_001352514.2(HLCS):c.2236+16C>T	HLCS	Single nucleotide variant (intron variant)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 2913036	NM_001352514.2(HLCS):c.2236+17T>C	HLCS	Single nucleotide variant (intron variant)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 2912516	NM_001352514.2(HLCS):c.505C>T (p.Gln169Ter)	HLCS (Q22* +1 more)	Single nucleotide variant (nonsense +1 more)	Holocarboxylase synthetase deficiency	GPathogenic
Select item 2911848	NM_001352514.2(HLCS):c.1621-19T>A	HLCS	Single nucleotide variant (intron variant)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 2911441	NM_001352514.2(HLCS):c.1740C>G (p.Thr580=)	HLCS	Single nucleotide variant (synonymous variant +1 more)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 2907381	NM_001352514.2(HLCS):c.1065C>T (p.Asp355=)	HLCS	Single nucleotide variant (synonymous variant +1 more)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 2906664	NM_001352514.2(HLCS):c.2499C>T (p.Ile833=)	HLCS	Single nucleotide variant (synonymous variant +1 more)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 2903954	NM_001352514.2(HLCS):c.1537_1540del (p.Glu513fs)	HLCS (E513fs +1 more)	Microsatellite (frameshift variant +1 more)	Holocarboxylase synthetase deficiency	GPathogenic
Select item 2900318	NM_001352514.2(HLCS):c.1323C>A (p.Gly441=)	HLCS	Single nucleotide variant (synonymous variant +1 more)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 2897596	NM_001352514.2(HLCS):c.494-25TC[3]	HLCS	Microsatellite (intron variant)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 2896580	NM_001352514.2(HLCS):c.2451-19C>G	HLCS	Single nucleotide variant (intron variant)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 2894302	NM_001352514.2(HLCS):c.2451-18G>A	HLCS	Single nucleotide variant (intron variant)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 2891977	NM_001352514.2(HLCS):c.2580C>T (p.Ser860=)	HLCS	Single nucleotide variant (synonymous variant +1 more)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 2885894	NM_001352514.2(HLCS):c.1437+13G>T	HLCS	Single nucleotide variant (intron variant)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 2885639	NM_001352514.2(HLCS):c.1621-8T>C	HLCS	Single nucleotide variant (intron variant)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 2880669	NM_001352514.2(HLCS):c.1782A>C (p.Ser594=)	HLCS	Single nucleotide variant (synonymous variant +1 more)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 2876371	NM_001352514.2(HLCS):c.2370G>C (p.Val790=)	HLCS	Single nucleotide variant (synonymous variant +1 more)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 2875686	NM_001352514.2(HLCS):c.1119C>A (p.Pro373=)	HLCS	Single nucleotide variant (synonymous variant +1 more)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 2869528	NM_001352514.2(HLCS):c.1210del (p.Gln403_Val404insTer)	HLCS	Deletion (nonsense +1 more)	Holocarboxylase synthetase deficiency	GPathogenic
Select item 2867942	NM_001352514.2(HLCS):c.1505C>G (p.Ser502Ter)	HLCS (S502* +1 more)	Single nucleotide variant (nonsense +1 more)	Holocarboxylase synthetase deficiency	GPathogenic
Select item 2865829	NM_001352514.2(HLCS):c.2289C>T (p.Leu763=)	HLCS	Single nucleotide variant (synonymous variant +1 more)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 2864278	NM_001352514.2(HLCS):c.2205A>G (p.Thr735=)	HLCS	Single nucleotide variant (synonymous variant +1 more)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 2863977	NM_001352514.2(HLCS):c.2060_2081del (p.Phe687fs)	HLCS (F540fs +1 more)	Deletion (frameshift variant +1 more)	Holocarboxylase synthetase deficiency	GPathogenic
Select item 2862015	NM_001352514.2(HLCS):c.1091T>A (p.Leu364Ter)	HLCS (L217* +1 more)	Single nucleotide variant (nonsense +1 more)	Holocarboxylase synthetase deficiency	GPathogenic
Select item 2861065	NM_001352514.2(HLCS):c.1438-6C>T	HLCS	Single nucleotide variant (intron variant)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 2860002	NM_001352514.2(HLCS):c.927C>A (p.Pro309=)	HLCS	Single nucleotide variant (synonymous variant +1 more)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 2859598	NM_001352514.2(HLCS):c.2361C>G (p.Val787=)	HLCS	Single nucleotide variant (synonymous variant +1 more)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 2858359	NM_001352514.2(HLCS):c.984G>A (p.Glu328=)	HLCS	Single nucleotide variant (synonymous variant +1 more)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 2856950	NM_001352514.2(HLCS):c.1242C>A (p.Val414=)	HLCS	Single nucleotide variant (synonymous variant +1 more)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 2856149	NM_001352514.2(HLCS):c.1471del (p.Val491fs)	HLCS (V344fs +1 more)	Deletion (frameshift variant +1 more)	Holocarboxylase synthetase deficiency	GPathogenic
Select item 2852760	NM_001352514.2(HLCS):c.1961-12C>A	HLCS	Single nucleotide variant (intron variant)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 2846963	NM_001352514.2(HLCS):c.1035C>T (p.Tyr345=)	HLCS	Single nucleotide variant (synonymous variant +1 more)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 2844492	NM_001352514.2(HLCS):c.1620+7T>G	HLCS	Single nucleotide variant (intron variant)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 2844491	NM_001352514.2(HLCS):c.1620+9del	HLCS	Deletion (intron variant)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 2843805	NM_001352514.2(HLCS):c.1104C>G (p.Thr368=)	HLCS	Single nucleotide variant (synonymous variant +1 more)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 2843700	NM_001352514.2(HLCS):c.2451-4del	HLCS	Deletion (intron variant)	Holocarboxylase synthetase deficiency	GBenign
Select item 2839530	NM_001352514.2(HLCS):c.2088C>A (p.Val696=)	HLCS	Single nucleotide variant (synonymous variant +1 more)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 2836026	NM_001352514.2(HLCS):c.1437+20T>A	HLCS	Single nucleotide variant (intron variant)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 2834516	NM_001352514.2(HLCS):c.1110G>A (p.Glu370=)	HLCS	Single nucleotide variant (synonymous variant +1 more)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 2833630	NM_001352514.2(HLCS):c.2601C>T (p.Leu867=)	HLCS	Single nucleotide variant (synonymous variant +1 more)	Holocarboxylase synthetase deficiency	GLikely benign

<< First< Prev

Page of 11