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

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3266707	NM_138441.3(CGAS):c.1535G>A (p.Arg512Lys)	CGAS (R512K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143856	NM_138441.3(CGAS):c.1465A>T (p.Asn489Tyr)	CGAS (N489Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143855	NM_138441.3(CGAS):c.1456C>G (p.Pro486Ala)	CGAS (P486A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143853	NM_138441.3(CGAS):c.1370G>A (p.Arg457His)	CGAS (R457H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143852	NM_138441.3(CGAS):c.1369C>T (p.Arg457Cys)	CGAS (R457C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3266705	NM_138441.3(CGAS):c.1355A>T (p.Asp452Val)	CGAS (D452V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143851	NM_138441.3(CGAS):c.1310A>G (p.His437Arg)	CGAS (H437R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143850	NM_138441.3(CGAS):c.1299C>A (p.Phe433Leu)	CGAS (F433L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524840	NM_138441.3(CGAS):c.1178C>G (p.Ser393Cys)	CGAS (S393C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521765	NM_138441.3(CGAS):c.1147G>A (p.Glu383Lys)	CGAS (E383K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143848	NM_138441.3(CGAS):c.1127G>A (p.Arg376Gln)	CGAS (R376Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266712	NM_138441.3(CGAS):c.1090G>A (p.Ala364Thr)	CGAS (A364T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511046	NM_138441.3(CGAS):c.1016G>A (p.Arg339His)	CGAS (R339H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266710	NM_138441.3(CGAS):c.1015C>T (p.Arg339Cys)	CGAS (R339C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143869	NM_138441.3(CGAS):c.815C>T (p.Ser272Leu)	CGAS (S272L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143868	NM_138441.3(CGAS):c.763A>G (p.Arg255Gly)	CGAS (R255G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143867	NM_138441.3(CGAS):c.740C>A (p.Ala247Glu)	CGAS (A247E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143866	NM_138441.3(CGAS):c.737G>A (p.Arg246His)	CGAS (R246H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143864	NM_138441.3(CGAS):c.613G>A (p.Gly205Ser)	CGAS (G205S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143863	NM_138441.3(CGAS):c.500C>T (p.Ala167Val)	CGAS (A167V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143862	NM_138441.3(CGAS):c.499G>C (p.Ala167Pro)	CGAS (A167P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509119	NM_138441.3(CGAS):c.497G>A (p.Arg166Gln)	CGAS (R166Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143861	NM_138441.3(CGAS):c.464G>C (p.Arg155Pro)	CGAS (R155P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623851	NM_138441.3(CGAS):c.463C>T (p.Arg155Trp)	CGAS, LOC129996719 (R155W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266708	NM_138441.3(CGAS):c.437T>G (p.Leu146Arg)	CGAS, LOC129996719 (L146R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143860	NM_138441.3(CGAS):c.420C>A (p.Asp140Glu)	CGAS, LOC129996719 (D140E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2527149	NM_138441.3(CGAS):c.410G>A (p.Gly137Glu)	CGAS, LOC129996719 (G137E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143858	NM_138441.3(CGAS):c.394C>G (p.Pro132Ala)	CGAS, LOC129996719 (P132A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266711	NM_138441.3(CGAS):c.353C>A (p.Ala118Asp)	CGAS, LOC129996719 (A118D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477062	NM_138441.3(CGAS):c.316G>A (p.Glu106Lys)	CGAS, LOC129996719 (E106K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266706	NM_138441.3(CGAS):c.245A>C (p.Lys82Thr)	CGAS (K82T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457002	NM_138441.3(CGAS):c.241G>A (p.Ala81Thr)	CGAS (A81T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143857	NM_138441.3(CGAS):c.187A>C (p.Lys63Gln)	CGAS (K63Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550287	NM_138441.3(CGAS):c.178C>T (p.Arg60Trp)	CGAS (R60W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510596	NM_138441.3(CGAS):c.160G>T (p.Ala54Ser)	CGAS (A54S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143854	NM_138441.3(CGAS):c.142G>T (p.Ala48Ser)	CGAS (A48S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143849	NM_138441.3(CGAS):c.124G>A (p.Glu42Lys)	CGAS (E42K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266713	NM_138441.3(CGAS):c.103A>C (p.Thr35Pro)	CGAS (T35P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143865	NM_138441.3(CGAS):c.70G>T (p.Ala24Ser)	CGAS, LOC129996720 (A24S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143870	NM_138441.3(CGAS):c.8C>G (p.Pro3Arg)	CGAS, LOC129996720 (P3R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 40