"GAS2L2-related condition"[Disease/phenotype] AND "PreventionGenetics, - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3043180	NM_139285.4(GAS2L2):c.2591C>T (p.Pro864Leu)	GAS2L2 (P864L)	Single nucleotide variant (missense variant)	GAS2L2-related condition	GBenign
Select item 3034870	NM_139285.4(GAS2L2):c.2548G>A (p.Ala850Thr)	GAS2L2 (A850T)	Single nucleotide variant (missense variant)	GAS2L2-related condition	GBenign
Select item 3048419	NM_139285.4(GAS2L2):c.2481A>G (p.Ala827=)	GAS2L2	Single nucleotide variant (synonymous variant)	GAS2L2-related condition	GLikely benign
Select item 3041820	NM_139285.4(GAS2L2):c.2442G>A (p.Arg814=)	GAS2L2	Single nucleotide variant (synonymous variant)	GAS2L2-related condition	GBenign
Select item 3042558	NM_139285.4(GAS2L2):c.2433C>T (p.Pro811=)	GAS2L2	Single nucleotide variant (synonymous variant)	GAS2L2-related condition	GLikely benign
Select item 3039778	NM_139285.4(GAS2L2):c.2342G>C (p.Arg781Pro)	GAS2L2 (R781P)	Single nucleotide variant (missense variant)	GAS2L2-related condition	GBenign
Select item 3041425	NM_139285.4(GAS2L2):c.2288G>A (p.Arg763Gln)	GAS2L2 (R763Q)	Single nucleotide variant (missense variant)	GAS2L2-related condition	GLikely benign
Select item 2647671	NM_139285.4(GAS2L2):c.2277_2279del (p.Arg760del)	GAS2L2 (R760del)	Deletion (inframe_deletion)	GAS2L2-related condition +1 more	GBenign/Likely benign
Select item 3057086	NM_139285.4(GAS2L2):c.2271G>A (p.Lys757=)	GAS2L2	Single nucleotide variant (synonymous variant)	GAS2L2-related condition	GBenign
Select item 2647672	NM_139285.4(GAS2L2):c.2130T>C (p.Ser710=)	GAS2L2	Single nucleotide variant (synonymous variant)	GAS2L2-related condition +1 more	GBenign/Likely benign
Select item 3053260	NM_139285.4(GAS2L2):c.1780G>A (p.Gly594Arg)	GAS2L2 (G594R)	Single nucleotide variant (missense variant)	GAS2L2-related condition	GLikely benign
Select item 3046687	NM_139285.4(GAS2L2):c.1649A>G (p.His550Arg)	GAS2L2 (H550R)	Single nucleotide variant (missense variant)	GAS2L2-related condition	GLikely benign
Select item 3049267	NM_139285.4(GAS2L2):c.1644C>T (p.Ser548=)	GAS2L2	Single nucleotide variant (synonymous variant)	GAS2L2-related condition	GLikely benign
Select item 252783	NM_139285.4(GAS2L2):c.1621G>A (p.Val541Ile)	GAS2L2 (V541I)	Single nucleotide variant (missense variant)	GAS2L2-related condition +1 more	GConflicting classifications of pathogenicity
Select item 3053576	NM_139285.4(GAS2L2):c.1620C>T (p.Ala540=)	GAS2L2	Single nucleotide variant (synonymous variant)	GAS2L2-related condition	GLikely benign
Select item 1273837	NM_139285.4(GAS2L2):c.1618G>A (p.Ala540Thr)	GAS2L2 (A540T)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 3036872	NM_139285.4(GAS2L2):c.1512C>T (p.Pro504=)	GAS2L2	Single nucleotide variant (synonymous variant)	GAS2L2-related condition	GLikely benign
Select item 1050564	NM_139285.4(GAS2L2):c.1441G>A (p.Ala481Thr)	GAS2L2 (A481T)	Single nucleotide variant (missense variant)	GAS2L2-related condition	GLikely benign
Select item 3050351	NM_139285.4(GAS2L2):c.1396G>A (p.Glu466Lys)	GAS2L2 (E466K)	Single nucleotide variant (missense variant)	GAS2L2-related condition	GBenign
Select item 3040709	NM_139285.4(GAS2L2):c.1378C>T (p.Arg460Cys)	GAS2L2 (R460C)	Single nucleotide variant (missense variant)	GAS2L2-related condition	GBenign
Select item 3048443	NM_139285.4(GAS2L2):c.1354_1368del (p.Ala452_Ser456del)	GAS2L2	Deletion (inframe deletion)	GAS2L2-related condition	GUncertain significance
Select item 2215452	NM_139285.4(GAS2L2):c.1297G>A (p.Gly433Arg)	GAS2L2 (G433R)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 3041184	NM_139285.4(GAS2L2):c.1290C>T (p.Thr430=)	GAS2L2	Single nucleotide variant (synonymous variant)	GAS2L2-related condition	GLikely benign
Select item 3039511	NM_139285.4(GAS2L2):c.1125G>A (p.Pro375=)	GAS2L2	Single nucleotide variant (synonymous variant)	GAS2L2-related condition	GLikely benign
Select item 3033336	NM_139285.4(GAS2L2):c.1057G>T (p.Ala353Ser)	GAS2L2 (A353S)	Single nucleotide variant (missense variant)	GAS2L2-related condition	GLikely benign
Select item 2212826	NM_139285.4(GAS2L2):c.1031G>A (p.Arg344His)	GAS2L2 (R344H)	Single nucleotide variant (missense variant)	not specified +2 more	GLikely benign
Select item 3031368	NM_139285.4(GAS2L2):c.962T>C (p.Val321Ala)	GAS2L2 (V321A)	Single nucleotide variant (missense variant)	GAS2L2-related condition	GLikely benign
Select item 633450	NM_139285.4(GAS2L2):c.887_890del (p.Val296fs)	GAS2L2 (V296fs)	Deletion (frameshift variant)	GAS2L2-related condition	GUncertain significance
Select item 3048388	NM_139285.4(GAS2L2):c.771C>T (p.Gly257=)	GAS2L2, LOC130060735	Single nucleotide variant (synonymous variant)	GAS2L2-related condition	GLikely benign
Select item 3040023	NM_139285.4(GAS2L2):c.653C>T (p.Thr218Met)	GAS2L2 (T218M)	Single nucleotide variant (missense variant)	GAS2L2-related condition	GLikely benign
Select item 3041556	NM_139285.4(GAS2L2):c.432G>C (p.Val144=)	GAS2L2	Single nucleotide variant (synonymous variant)	GAS2L2-related condition	GLikely benign
Select item 3054356	NM_139285.4(GAS2L2):c.285C>T (p.Val95=)	GAS2L2	Single nucleotide variant (synonymous variant)	GAS2L2-related condition	GLikely benign
Select item 3051859	NM_139285.4(GAS2L2):c.48G>A (p.Pro16=)	GAS2L2	Single nucleotide variant (synonymous variant)	GAS2L2-related condition	GLikely benign

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Items: 33