"Ambry Genetics"[submitter] AND "HLCS"[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2322312	NM_001352514.2(HLCS):c.2612A>C (p.Lys871Thr)	HLCS (K724T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 203771	NM_001352514.2(HLCS):c.2500G>A (p.Val834Ile)	HLCS (V687I +1 more)	Single nucleotide variant (missense variant +1 more)	Holocarboxylase synthetase deficiency +2 more	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 2555398	NM_001352514.2(HLCS):c.2443G>C (p.Val815Leu)	HLCS (V815L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 899191	NM_001352514.2(HLCS):c.2443G>A (p.Val815Ile)	HLCS (V815I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 339957	NM_001352514.2(HLCS):c.2432A>G (p.Tyr811Cys)	HLCS (Y664C +1 more)	Single nucleotide variant (missense variant +1 more)	Holocarboxylase synthetase deficiency +2 more	GUncertain significance
Select item 2260751	NM_001352514.2(HLCS):c.2422C>A (p.Pro808Thr)	HLCS (P661T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 459944	NM_001352514.2(HLCS):c.2416G>A (p.Val806Ile)	HLCS (V659I +1 more)	Single nucleotide variant (missense variant +1 more)	Holocarboxylase synthetase deficiency +1 more	GConflicting classifications of pathogenicity
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 2230126	NM_001352514.2(HLCS):c.2365A>G (p.Thr789Ala)	HLCS (T642A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2231051	NM_001352514.2(HLCS):c.2350A>C (p.Ile784Leu)	HLCS (I637L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 945984	NM_001352514.2(HLCS):c.2345A>G (p.Tyr782Cys)	HLCS (Y782C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
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 2488634	NM_001352514.2(HLCS):c.2246T>C (p.Phe749Ser)	HLCS (F749S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2293873	NM_001352514.2(HLCS):c.2227A>G (p.Ile743Val)	HLCS (I743V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1985213	NM_001352514.2(HLCS):c.2215G>A (p.Glu739Lys)	HLCS (E739K +1 more)	Single nucleotide variant (missense variant +1 more)	Holocarboxylase synthetase deficiency +1 more	GUncertain significance
Select item 2228569	NM_001352514.2(HLCS):c.2140A>T (p.Lys714Ter)	HLCS (K714* +1 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases	GPathogenic
Select item 529439	NM_001352514.2(HLCS):c.2135G>A (p.Arg712Gln)	HLCS (R565Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 203754	NM_001352514.2(HLCS):c.2113G>A (p.Glu705Lys)	HLCS (E558K +1 more)	Single nucleotide variant (missense variant +1 more)	Holocarboxylase synthetase deficiency +3 more	GBenign/Likely benign
Select item 2268634	NM_001352514.2(HLCS):c.1997G>A (p.Cys666Tyr)	HLCS (C519Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 428585	NM_001352514.2(HLCS):c.1985G>A (p.Ser662Asn)	HLCS (S515N +1 more)	Single nucleotide variant (missense variant +1 more)	Holocarboxylase synthetase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 370850	NM_001352514.2(HLCS):c.1974dup (p.Val659fs)	HLCS (V659fs +1 more)	Duplication (frameshift variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 379867	NM_001352514.2(HLCS):c.1893-6C>T	HLCS	Single nucleotide variant (intron variant)	Holocarboxylase synthetase deficiency +2 more	GBenign/Likely benign
Select item 989617	NM_001352514.2(HLCS):c.1781C>T (p.Ser594Leu)	HLCS (S447L +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 1090726	NM_001352514.2(HLCS):c.1669G>A (p.Glu557Lys)	HLCS (E410K +1 more)	Single nucleotide variant (missense variant +1 more)	Holocarboxylase synthetase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1397452	NM_001352514.2(HLCS):c.1474C>A (p.Gln492Lys)	HLCS (Q492K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2456426	NM_001352514.2(HLCS):c.1449A>T (p.Glu483Asp)	HLCS (E483D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 418250	NM_001352514.2(HLCS):c.1390G>T (p.Val464Leu)	HLCS (V317L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 418249	NM_001352514.2(HLCS):c.1347G>C (p.Arg449Ser)	HLCS (R302S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 203764	NM_001352514.2(HLCS):c.1330C>T (p.Arg444Trp)	HLCS (R297W +1 more)	Single nucleotide variant (missense variant +1 more)	Holocarboxylase synthetase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 2461885	NM_001352514.2(HLCS):c.1322G>A (p.Gly441Asp)	HLCS (G294D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 203763	NM_001352514.2(HLCS):c.1291G>A (p.Val431Ile)	HLCS (V284I +1 more)	Single nucleotide variant (missense variant +1 more)	Holocarboxylase synthetase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 2615307	NM_001352514.2(HLCS):c.1105A>G (p.Arg369Gly)	HLCS (R222G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1389284	NM_001352514.2(HLCS):c.908A>T (p.Asn303Ile)	HLCS (N303I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	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 2537824	NM_001352514.2(HLCS):c.886G>A (p.Glu296Lys)	HLCS (E296K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 339966	NM_001352514.2(HLCS):c.865G>A (p.Val289Ile)	HLCS (V142I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 2495243	NM_001352514.2(HLCS):c.737A>T (p.Tyr246Phe)	HLCS (Y246F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1123231	NM_001352514.2(HLCS):c.703G>A (p.Asp235Asn)	HLCS (D235N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1139368	NM_001352514.2(HLCS):c.689G>A (p.Ser230Asn)	HLCS (S230N +1 more)	Single nucleotide variant (missense variant +1 more)	Holocarboxylase synthetase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1150379	NM_001352514.2(HLCS):c.674G>A (p.Gly225Asp)	HLCS (G225D +1 more)	Single nucleotide variant (missense variant +1 more)	Holocarboxylase synthetase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 203759	NM_001352514.2(HLCS):c.601G>C (p.Glu201Gln)	HLCS (E54Q +1 more)	Single nucleotide variant (missense variant +1 more)	Holocarboxylase synthetase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 895132	NM_001352514.2(HLCS):c.574C>G (p.Pro192Ala)	HLCS (P192A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1146448	NM_001352514.2(HLCS):c.508G>A (p.Asp170Asn)	HLCS (D170N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2076124	NM_001352514.2(HLCS):c.481C>G (p.Gln161Glu)	HLCS (Q14E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 718691	NM_001352514.2(HLCS):c.462G>A (p.Met154Ile)	HLCS (M7I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity

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Items: 47