ClinVar for MedGen (Select 120653) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3891333	NM_001352514.2(HLCS):c.722G>A (p.Gly241Asp)	HLCS (G241D +1 more)	Single nucleotide variant (missense variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 3891332	NM_001352514.2(HLCS):c.246A>G (p.Ile82Met)	HLCS (I82M)	Single nucleotide variant (5 prime UTR variant +2 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 3779734	NM_001352514.2(HLCS):c.2617C>T (p.Arg873Trp)	HLCS (R726W +1 more)	Single nucleotide variant (missense variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 3730668	NM_001352514.2(HLCS):c.494C>T (p.Ser165Leu)	HLCS (S165L +1 more)	Single nucleotide variant (missense variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 3727270	NM_001352514.2(HLCS):c.2398del (p.Asp800fs)	HLCS (D653fs +1 more)	Deletion (frameshift variant +1 more)	Holocarboxylase synthetase deficiency	GPathogenic
Select item 3719135	NM_001352514.2(HLCS):c.2353G>A (p.Ala785Thr)	HLCS (A785T +1 more)	Single nucleotide variant (missense variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 3716419	NM_001352514.2(HLCS):c.494-5C>T	HLCS	Single nucleotide variant (intron variant)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 3709749	NM_001352514.2(HLCS):c.2357G>C (p.Arg786Thr)	HLCS (R639T +1 more)	Single nucleotide variant (missense variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 3702507	NM_001352514.2(HLCS):c.2193G>C (p.Leu731=)	HLCS	Single nucleotide variant (synonymous variant +1 more)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 3685876	NM_001352514.2(HLCS):c.531G>A (p.Lys177=)	HLCS	Single nucleotide variant (synonymous variant +1 more)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 3685200	NM_001352514.2(HLCS):c.529A>T (p.Lys177Ter)	HLCS (K30* +1 more)	Single nucleotide variant (nonsense +1 more)	Holocarboxylase synthetase deficiency	GPathogenic
Select item 3673226	NM_001352514.2(HLCS):c.2379del (p.Lys793fs)	HLCS (K646fs +1 more)	Deletion (frameshift variant +1 more)	Holocarboxylase synthetase deficiency	GPathogenic
Select item 3672129	NM_001352514.2(HLCS):c.1893-4G>T	HLCS	Single nucleotide variant (intron variant)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 3668978	NM_001352514.2(HLCS):c.1308C>T (p.Cys436=)	HLCS	Single nucleotide variant (synonymous variant +1 more)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 3663422	NM_001352514.2(HLCS):c.2169C>T (p.Asp723=)	HLCS	Single nucleotide variant (synonymous variant +1 more)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 3648726	NM_001352514.2(HLCS):c.2429A>G (p.Tyr810Cys)	HLCS (Y663C +1 more)	Single nucleotide variant (missense variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 3645416	NM_001352514.2(HLCS):c.2577C>T (p.Asn859=)	HLCS	Single nucleotide variant (synonymous variant +1 more)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 3645166	NM_001352514.2(HLCS):c.1440_1443dup (p.Leu482fs)	HLCS (L335fs +1 more)	Duplication (frameshift variant +1 more)	Holocarboxylase synthetase deficiency	GPathogenic
Select item 3643229	NM_001352514.2(HLCS):c.1089G>A (p.Leu363=)	HLCS	Single nucleotide variant (synonymous variant +1 more)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 3640315	NM_001352514.2(HLCS):c.1446A>G (p.Leu482=)	HLCS	Single nucleotide variant (synonymous variant +1 more)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 3639775	NM_001352514.2(HLCS):c.1570dup (p.Met524fs)	HLCS (M377fs +1 more)	Duplication (frameshift variant +1 more)	Holocarboxylase synthetase deficiency	GPathogenic
Select item 3638557	NM_001352514.2(HLCS):c.966C>G (p.Ala322=)	HLCS	Single nucleotide variant (synonymous variant +1 more)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 3624305	NM_001352514.2(HLCS):c.2287C>T (p.Leu763Phe)	HLCS (L616F +1 more)	Single nucleotide variant (missense variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 3620792	NM_001352514.2(HLCS):c.854G>A (p.Ser285Asn)	HLCS (S138N +1 more)	Single nucleotide variant (missense variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 3615600	NM_001352514.2(HLCS):c.2567C>G (p.Pro856Arg)	HLCS (P709R +1 more)	Single nucleotide variant (missense variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 3587678	NM_001352514.2(HLCS):c.1162G>T (p.Gly388Trp)	HLCS (G241W +1 more)	Single nucleotide variant (missense variant +1 more)	Holocarboxylase synthetase deficiency	GLikely pathogenic
Select item 3587677	NM_001352514.2(HLCS):c.1418G>A (p.Gly473Glu)	HLCS (G326E +1 more)	Single nucleotide variant (missense variant +1 more)	Holocarboxylase synthetase deficiency	GConflicting classifications of pathogenicity
Select item 3587676	NM_001352514.2(HLCS):c.1493del (p.Asn498fs)	HLCS (N498fs +1 more)	Deletion (frameshift variant +1 more)	Holocarboxylase synthetase deficiency	GLikely pathogenic
Select item 3587675	NM_001352514.2(HLCS):c.1600dup (p.Tyr534fs)	HLCS (Y387fs +1 more)	Duplication (frameshift variant +1 more)	Holocarboxylase synthetase deficiency	GLikely pathogenic
Select item 3587674	NM_001352514.2(HLCS):c.1620+2T>G	HLCS	Single nucleotide variant (splice donor variant)	Holocarboxylase synthetase deficiency	GLikely pathogenic
Select item 3587673	NM_001352514.2(HLCS):c.1648_1649insATAAGAGGGATATG (p.Leu550fs)	HLCS (L403fs +1 more)	Insertion (frameshift variant +1 more)	Holocarboxylase synthetase deficiency	GLikely pathogenic
Select item 3587672	NM_001352514.2(HLCS):c.1892+2T>C	HLCS	Single nucleotide variant (splice donor variant)	Holocarboxylase synthetase deficiency	GLikely pathogenic
Select item 3587671	NM_001352514.2(HLCS):c.1935dup (p.Ala646fs)	HLCS (A499fs +1 more)	Duplication (frameshift variant +1 more)	Holocarboxylase synthetase deficiency	GLikely pathogenic
Select item 3393139	NM_001352514.2(HLCS):c.2384T>A (p.Ile795Asn)	HLCS (I648N +1 more)	Single nucleotide variant (missense variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
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 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 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 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 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

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