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

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

Search results

Items: 41

	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)	not specified +1 more	GLikely benign
Select item 3286362	NM_032263.5(IQCG):c.1184A>G (p.Lys395Arg)	IQCG (K297R +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3286366	NM_032263.5(IQCG):c.1177G>A (p.Glu393Lys)	IQCG (E374K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286365	NM_032263.5(IQCG):c.1155G>T (p.Lys385Asn)	IQCG (K366N +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3286363	NM_032263.5(IQCG):c.1130G>A (p.Arg377His)	IQCG (R377H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286367	NM_032263.5(IQCG):c.1098A>G (p.Ile366Met)	IQCG (I268M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490678	NM_032263.5(IQCG):c.1081G>A (p.Asp361Asn)	IQCG (D342N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291388	NM_032263.5(IQCG):c.779C>T (p.Ala260Val)	IQCG (A162V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110462	NM_032263.5(IQCG):c.769G>A (p.Glu257Lys)	IQCG (E238K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110461	NM_032263.5(IQCG):c.599G>T (p.Ser200Ile)	IQCG (S200I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516881	NM_032263.5(IQCG):c.583C>G (p.Leu195Val)	IQCG (L97V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286677	NM_032263.5(IQCG):c.555G>T (p.Glu185Asp)	IQCG (E87D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110460	NM_032263.5(IQCG):c.532G>A (p.Val178Met)	IQCG (V159M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317353	NM_032263.5(IQCG):c.491C>G (p.Thr164Arg)	IQCG (T164R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366995	NM_032263.5(IQCG):c.488A>G (p.Glu163Gly)	IQCG (E144G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354947	NM_032263.5(IQCG):c.443A>G (p.Asp148Gly)	IQCG (D129G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350817	NM_032263.5(IQCG):c.424G>A (p.Glu142Lys)	IQCG (E44K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286361	NM_032263.5(IQCG):c.413G>A (p.Arg138Gln)	IQCG (R138Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2598287	NM_032263.5(IQCG):c.391C>G (p.Pro131Ala)	IQCG (P33A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613308	NM_032263.5(IQCG):c.367A>G (p.Ile123Val)	IQCG (I104V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456344	NM_032263.5(IQCG):c.331A>G (p.Met111Val)	IQCG (M92V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2402177	NM_032263.5(IQCG):c.315T>G (p.Asn105Lys)	IQCG (N105K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110459	NM_032263.5(IQCG):c.299A>G (p.Asn100Ser)	IQCG (N2S +2 more)	Single nucleotide variant (missense variant)	not specified	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)	not specified	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)	not specified	GLikely benign
Select item 3110463	NM_032263.5(IQCG):c.97G>A (p.Glu33Lys)	IQCG (E14K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365838	NM_032263.5(IQCG):c.79G>A (p.Glu27Lys)	IQCG (E8K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2461089	NM_032263.5(IQCG):c.10G>A (p.Asp4Asn)	IQCG (D4N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1015847	NM_000996.4(RPL35A):c.12-5C>G	IQCG, RPL35A	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 5 +1 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)	Diamond-Blackfan anemia +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 +2 more	GBenign/Likely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 41