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

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2354973	NM_032263.5(IQCG):c.1232G>A (p.Arg411Lys)	IQCG (R411K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2490678	NM_032263.5(IQCG):c.1081G>A (p.Asp361Asn)	IQCG (D342N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291388	NM_032263.5(IQCG):c.779C>T (p.Ala260Val)	IQCG (A162V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516881	NM_032263.5(IQCG):c.583C>G (p.Leu195Val)	IQCG (L97V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286677	NM_032263.5(IQCG):c.555G>T (p.Glu185Asp)	IQCG (E87D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317353	NM_032263.5(IQCG):c.491C>G (p.Thr164Arg)	IQCG (T164R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366995	NM_032263.5(IQCG):c.488A>G (p.Glu163Gly)	IQCG (E144G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354947	NM_032263.5(IQCG):c.443A>G (p.Asp148Gly)	IQCG (D129G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350817	NM_032263.5(IQCG):c.424G>A (p.Glu142Lys)	IQCG (E44K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598287	NM_032263.5(IQCG):c.391C>G (p.Pro131Ala)	IQCG (P33A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613308	NM_032263.5(IQCG):c.367A>G (p.Ile123Val)	IQCG (I104V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456344	NM_032263.5(IQCG):c.331A>G (p.Met111Val)	IQCG (M92V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2402177	NM_032263.5(IQCG):c.315T>G (p.Asn105Lys)	IQCG (N105K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515273	NM_032263.5(IQCG):c.280G>A (p.Val94Met)	IQCG (V75M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2386254	NM_032263.5(IQCG):c.149C>T (p.Pro50Leu)	IQCG (P31L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2365838	NM_032263.5(IQCG):c.79G>A (p.Glu27Lys)	IQCG (E8K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2461089	NM_032263.5(IQCG):c.10G>A (p.Asp4Asn)	IQCG (D4N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1015847	NM_000996.4(RPL35A):c.12-5C>G	IQCG, RPL35A	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 5 +2 more	GConflicting classifications of pathogenicity
Select item 344528	NM_000996.4(RPL35A):c.21C>T (p.Ser7=)	IQCG, RPL35A	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 583098	NM_000996.4(RPL35A):c.118_119del (p.Glu40fs)	IQCG, RPL35A (E40fs)	Deletion (frameshift variant +1 more)	Diamond-Blackfan anemia +1 more	GPathogenic
Select item 1723464	NM_000996.4(RPL35A):c.125A>G (p.Tyr42Cys)	IQCG, RPL35A (Y42C)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia 5 +2 more	GConflicting classifications of pathogenicity
Select item 1772215	NM_000996.4(RPL35A):c.141C>G (p.Cys47Trp)	IQCG, RPL35A (C47W)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia	GUncertain significance
Select item 1777261	NM_000996.4(RPL35A):c.165-16_166del	IQCG, RPL35A	Deletion (intron variant +1 more)	Diamond-Blackfan anemia	GLikely pathogenic
Select item 1788920	NM_000996.4(RPL35A):c.227G>C (p.Arg76Pro)	IQCG, RPL35A (R76P)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia	GUncertain significance
Select item 1788913	NM_000996.4(RPL35A):c.227G>A (p.Arg76Gln)	IQCG, RPL35A (R76Q)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia	GUncertain significance
Select item 1792520	NM_000996.4(RPL35A):c.251T>A (p.Val84Asp)	IQCG, RPL35A (V84D)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia	GUncertain significance
Select item 1169618	NM_000996.4(RPL35A):c.282T>C (p.Ala94=)	IQCG, RPL35A	Single nucleotide variant (synonymous variant +1 more)	Diamond-Blackfan anemia 5 +1 more	GBenign/Likely benign
Select item 2625491	NM_000996.4(RPL35A):c.306A>C (p.Arg102=)	IQCG, RPL35A	Single nucleotide variant (synonymous variant +1 more)	Diamond-Blackfan anemia	GLikely benign
Select item 1727450	NM_000996.4(RPL35A):c.308T>C (p.Val103Ala)	IQCG, RPL35A (V103A)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia	GUncertain significance
Select item 344531	NM_000996.4(RPL35A):c.*14C>A	IQCG, RPL35A	Single nucleotide variant (3 prime UTR variant +1 more)	Diamond-Blackfan anemia +1 more	GBenign/Likely benign

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Items: 30