"Ambry Genetics"[submitter] AND "IGLL1"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3108757	NM_020070.4(IGLL1):c.638C>T (p.Ser213Leu)	IGLL1 (S213L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2231360	NM_020070.4(IGLL1):c.614A>T (p.Lys205Met)	IGLL1 (K206M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1497677	NM_020070.4(IGLL1):c.605C>G (p.Thr202Ser)	IGLL1 (T203S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1345788	NM_020070.4(IGLL1):c.520G>T (p.Ala174Ser)	IGLL1 (A175S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2156375	NM_020070.4(IGLL1):c.491C>T (p.Thr164Met)	IGLL1 (T165M +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 2, autosomal recessive +1 more	GUncertain significance
Select item 644111	NM_020070.4(IGLL1):c.478G>A (p.Val160Met)	IGLL1 (V161M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 572836	NM_020070.4(IGLL1):c.458G>T (p.Gly153Val)	IGLL1 (G153V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1414307	NM_020070.4(IGLL1):c.446G>T (p.Trp149Leu)	IGLL1 (W150L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 950995	NM_020070.4(IGLL1):c.415G>A (p.Asp139Asn)	IGLL1 (D140N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2526229	NM_020070.4(IGLL1):c.413A>G (p.Asn138Ser)	IGLL1 (N138S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 569973	NM_020070.4(IGLL1):c.377T>C (p.Leu126Pro)	IGLL1 (L126P +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 2, autosomal recessive +1 more	GUncertain significance
Select item 1104967	NM_020070.4(IGLL1):c.363G>A (p.Pro121=)	IGLL1 (V83I)	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 2, autosomal recessive +1 more	GLikely benign
Select item 789401	NM_020070.4(IGLL1):c.342C>G (p.Pro114=)	IGLL1 (L76V)	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 2, autosomal recessive +1 more	GLikely benign
Select item 538828	NM_020070.4(IGLL1):c.334G>A (p.Ala112Thr)	IGLL1 (A112T +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3108756	NM_020070.4(IGLL1):c.271C>T (p.His91Tyr)	IGLL1 (H91Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475457	NM_020070.4(IGLL1):c.266C>A (p.Ser89Tyr)	IGLL1 (S89Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525092	NM_020070.4(IGLL1):c.263A>T (p.Gln88Leu)	IGLL1 (Q89L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108755	NM_020070.4(IGLL1):c.257G>A (p.Gly86Glu)	IGLL1 (G87E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 575956	NM_020070.4(IGLL1):c.254G>A (p.Arg85Gln)	IGLL1 (R85Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 3108754	NM_020070.4(IGLL1):c.227C>T (p.Ser76Phe)	IGLL1 (S76F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108758	NM_020070.4(IGLL1):c.88G>T (p.Gly30Cys)	IGLL1 (G30C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1912621	NM_020070.4(IGLL1):c.68G>A (p.Arg23His)	IGLL1 (R23H)	Single nucleotide variant (missense variant)	Agammaglobulinemia 2, autosomal recessive +1 more	GUncertain significance
Select item 576645	NM_020070.4(IGLL1):c.21G>C (p.Gln7His)	IGLL1 (Q7H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2166215	NM_020070.4(IGLL1):c.5G>A (p.Arg2Lys)	IGLL1 (R2K)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance

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Items: 24