"PreventionGenetics, part of Exact Sciences"[submitter] AND "GON4L"[ge - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3049890	NM_001282860.2(GON4L):c.6576+8C>T	GON4L	Single nucleotide variant (intron variant)	GON4L-related disorder	GLikely benign
Select item 3029307	NM_001282860.2(GON4L):c.6285T>C (p.His2095=)	GON4L	Single nucleotide variant (synonymous variant)	GON4L-related disorder	GLikely benign
Select item 3035123	NM_001282860.2(GON4L):c.6135G>A (p.Val2045=)	GON4L	Single nucleotide variant (synonymous variant)	GON4L-related disorder	GLikely benign
Select item 3057304	NM_001282860.2(GON4L):c.6132C>T (p.Thr2044=)	GON4L	Single nucleotide variant (synonymous variant)	GON4L-related disorder	GLikely benign
Select item 3052123	NM_001282860.2(GON4L):c.6042G>A (p.Gln2014=)	GON4L	Single nucleotide variant (synonymous variant)	GON4L-related disorder	GLikely benign
Select item 3057151	NM_001282860.2(GON4L):c.4727-10G>C	GON4L	Single nucleotide variant (intron variant)	GON4L-related disorder	GBenign
Select item 3058271	NM_001282860.2(GON4L):c.4644A>G (p.Ala1548=)	GON4L	Single nucleotide variant (synonymous variant)	GON4L-related disorder	GLikely benign
Select item 3049298	NM_001282860.2(GON4L):c.4572A>C (p.Pro1524=)	GON4L	Single nucleotide variant (synonymous variant)	GON4L-related disorder	GLikely benign
Select item 3049889	NM_001282860.2(GON4L):c.4474-3C>T	GON4L	Single nucleotide variant (intron variant)	GON4L-related disorder	GLikely benign
Select item 3052078	NM_001282860.2(GON4L):c.4116G>A (p.Thr1372=)	GON4L	Single nucleotide variant (synonymous variant)	GON4L-related disorder	GLikely benign
Select item 3037905	NM_001282860.2(GON4L):c.3543T>C (p.Thr1181=)	GON4L	Single nucleotide variant (synonymous variant)	GON4L-related disorder	GLikely benign
Select item 3053873	NM_001282860.2(GON4L):c.3474C>T (p.Gly1158=)	GON4L	Single nucleotide variant (synonymous variant)	GON4L-related disorder	GBenign
Select item 3042618	NM_001282860.2(GON4L):c.3377A>C (p.Lys1126Thr)	GON4L (K1126T)	Single nucleotide variant (missense variant)	GON4L-related disorder	GLikely benign
Select item 3033605	NM_001282860.2(GON4L):c.3276C>G (p.Leu1092=)	GON4L	Single nucleotide variant (synonymous variant)	GON4L-related disorder	GLikely benign
Select item 3043150	NM_001282860.2(GON4L):c.3223G>A (p.Val1075Met)	GON4L (V1075M)	Single nucleotide variant (missense variant)	GON4L-related disorder	GLikely benign
Select item 3045111	NM_001282860.2(GON4L):c.3006G>A (p.Lys1002=)	GON4L	Single nucleotide variant (synonymous variant)	GON4L-related disorder	GLikely benign
Select item 3053057	NM_001282860.2(GON4L):c.2499G>A (p.Leu833=)	GON4L	Single nucleotide variant (synonymous variant)	GON4L-related disorder	GLikely benign
Select item 2639437	NM_001282860.2(GON4L):c.2119C>G (p.Leu707Val)	GON4L (L707V)	Single nucleotide variant (missense variant)	GON4L-related disorder +1 more	GBenign/Likely benign
Select item 3048148	NM_001282860.2(GON4L):c.2040T>C (p.Thr680=)	GON4L	Single nucleotide variant (synonymous variant)	GON4L-related disorder	GLikely benign
Select item 3057948	NM_001282860.2(GON4L):c.1512T>C (p.Val504=)	GON4L	Single nucleotide variant (synonymous variant)	GON4L-related disorder	GLikely benign
Select item 3031780	NM_001282860.2(GON4L):c.1347G>A (p.Pro449=)	GON4L	Single nucleotide variant (synonymous variant)	GON4L-related disorder	GLikely benign
Select item 3050894	NM_001282860.2(GON4L):c.76G>A (p.Val26Ile)	GON4L (V26I)	Single nucleotide variant (missense variant)	GON4L-related disorder	GLikely benign

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Items: 22