Related gene-specific medical variations for Gene (Select 60) - ClinVar

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Links from Gene

Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3360918	NM_001101.5(ACTB):c.5A>T (p.Asp2Val)	ACTB (D2V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360405	NM_001101.5(ACTB):c.839A>C (p.Asn280Thr)	ACTB (N280T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2442085	NM_001101.5(ACTB):c.1058A>C (p.Gln353Pro)	ACTB (Q353P)	Single nucleotide variant (missense variant)	Baraitser-Winter syndrome 1	GUncertain significance
Select item 2442032	NM_001101.5(ACTB):c.373G>A (p.Glu125Lys)	ACTB (E125K)	Single nucleotide variant (missense variant)	Baraitser-Winter syndrome 1	GUncertain significance
Select item 2438839	NM_001101.5(ACTB):c.140T>C (p.Met47Thr)	ACTB (M47T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438838	NM_001101.5(ACTB):c.1111C>T (p.His371Tyr)	ACTB (H371Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438837	NM_001101.5(ACTB):c.237G>A (p.Trp79Ter)	ACTB (W79*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1700136	NM_001101.5(ACTB):c.625G>T (p.Val209Leu)	ACTB (V209L)	Single nucleotide variant (missense variant)	Baraitser-Winter syndrome 1	GLikely pathogenic
Select item 1344714	NM_001101.5(ACTB):c.331A>G (p.Asn111Asp)	ACTB (N111D)	Single nucleotide variant (missense variant)	Congenital smooth muscle hamartoma	GLikely pathogenic
Select item 1344711	NM_001101.5(ACTB):c.411G>T (p.Gln137His)	ACTB (Q137H)	Single nucleotide variant (missense variant)	Congenital smooth muscle hamartoma	GLikely pathogenic
Select item 1341869	NM_001101.5(ACTB):c.802+8G>C	ACTB	Single nucleotide variant (intron variant)	Baraitser-Winter syndrome 1	GUncertain significance
Select item 1319337	NM_001101.5(ACTB):c.474_475dup (p.Val159fs)	ACTB (V159fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 987424	NM_001101.5(ACTB):c.930_*52del (p.Asp311fs)	ACTB (D311fs)	Deletion (frameshift variant +2 more)	not provided	GLikely pathogenic
Select item 932625	NM_001101.5(ACTB):c.166G>A (p.Asp56Asn)	ACTB (D56N)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 930603	NM_001101.5(ACTB):c.225C>G (p.Ile75Met)	ACTB (I75M)	Single nucleotide variant (missense variant)	Baraitser-Winter syndrome 1	GUncertain significance
Select item 871390	NM_001101.5(ACTB):c.583G>A (p.Glu195Lys)	ACTB (E195K)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 636913	NM_001101.5(ACTB):c.575T>A (p.Ile192Asn)	ACTB (I192N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591451	NM_001101.5(ACTB):c.1081G>A (p.Glu361Lys)	ACTB (E361K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 520411	NM_001101.5(ACTB):c.217C>T (p.His73Tyr)	ACTB (H73Y)	Single nucleotide variant (missense variant)	Neurodevelopmental delay +1 more	GPathogenic/Likely pathogenic
Select item 446430	NM_001101.5(ACTB):c.527T>C (p.Leu176Pro)	ACTB (L176P)	Single nucleotide variant (missense variant)	Baraitser-Winter syndrome 1	GLikely pathogenic
Select item 438274	NM_001101.5(ACTB):c.350A>T (p.Glu117Val)	ACTB (E117V)	Single nucleotide variant (missense variant)	Baraitser-Winter syndrome 1	GPathogenic
Select item 438273	NM_001101.5(ACTB):c.1013C>T (p.Ser338Phe)	ACTB (S338F)	Single nucleotide variant (missense variant)	Baraitser-Winter syndrome 1	GLikely pathogenic

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Links from Gene

Items: 22