"GIGYF1-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3036050	NM_001375765.1(GIGYF1):c.3097del (p.Asp1033fs)	GIGYF1 (D1033fs)	Deletion (nonsense +2 more)	GIGYF1-related disorder	GUncertain significance
Select item 3040354	NM_001375765.1(GIGYF1):c.3056-8G>T	GIGYF1 (R1021L +2 more)	Single nucleotide variant (missense variant +2 more)	GIGYF1-related disorder	GBenign
Select item 3034342	NM_001375765.1(GIGYF1):c.2925+3G>A	GIGYF1	Single nucleotide variant (intron variant)	GIGYF1-related disorder	GLikely benign
Select item 3035541	NM_001375765.1(GIGYF1):c.2761+6C>T	GIGYF1	Single nucleotide variant (intron variant)	GIGYF1-related disorder	GLikely benign
Select item 3038257	NM_001375765.1(GIGYF1):c.2718C>T (p.Cys906=)	GIGYF1	Single nucleotide variant (synonymous variant +1 more)	GIGYF1-related disorder	GLikely benign
Select item 3058456	NM_001375765.1(GIGYF1):c.2622G>C (p.Ser874=)	GIGYF1	Single nucleotide variant (synonymous variant +1 more)	GIGYF1-related disorder	GLikely benign
Select item 3037248	NM_001375765.1(GIGYF1):c.2600+7G>A	GIGYF1	Single nucleotide variant (intron variant)	GIGYF1-related disorder	GBenign
Select item 3058387	NM_001375765.1(GIGYF1):c.2565C>T (p.Leu855=)	GIGYF1	Single nucleotide variant (synonymous variant +1 more)	GIGYF1-related disorder	GLikely benign
Select item 3046892	NM_001375765.1(GIGYF1):c.2534C>T (p.Pro845Leu)	GIGYF1 (P844L +1 more)	Single nucleotide variant (missense variant +1 more)	GIGYF1-related disorder	GLikely benign
Select item 3049526	NM_001375765.1(GIGYF1):c.2004C>T (p.Asn668=)	GIGYF1	Single nucleotide variant (synonymous variant +1 more)	GIGYF1-related disorder	GBenign
Select item 785227	NM_001375765.1(GIGYF1):c.1942G>A (p.Val648Ile)	GIGYF1 (V648I)	Single nucleotide variant (missense variant +1 more)	GIGYF1-related disorder +1 more	GBenign/Likely benign
Select item 3043876	NM_001375765.1(GIGYF1):c.1830G>T (p.Thr610=)	GIGYF1	Single nucleotide variant (synonymous variant +1 more)	GIGYF1-related disorder	GLikely benign
Select item 3051542	NM_001375765.1(GIGYF1):c.1808AGC[8] (p.Gln608_Leu609insGlnGln)	GIGYF1	Microsatellite (inframe insertion +1 more)	GIGYF1-related disorder	GUncertain significance
Select item 3036902	NM_001375765.1(GIGYF1):c.1794A>G (p.Pro598=)	GIGYF1	Single nucleotide variant (synonymous variant +1 more)	GIGYF1-related disorder	GLikely benign
Select item 747944	NM_001375765.1(GIGYF1):c.1788G>A (p.Pro596=)	GIGYF1	Single nucleotide variant (synonymous variant +1 more)	GIGYF1-related disorder +1 more	GLikely benign
Select item 1280351	NM_001375765.1(GIGYF1):c.1743A>G (p.Pro581=)	GIGYF1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 2657761	NM_001375765.1(GIGYF1):c.1473G>A (p.Thr491=)	GIGYF1	Single nucleotide variant (synonymous variant +1 more)	GIGYF1-related disorder +1 more	GLikely benign
Select item 2632232	NM_001375765.1(GIGYF1):c.1171A>T (p.Lys391Ter)	GIGYF1 (K391*)	Single nucleotide variant (nonsense +1 more)	GIGYF1-related disorder	GLikely pathogenic
Select item 3050670	NM_001375765.1(GIGYF1):c.1134C>T (p.Leu378=)	GIGYF1	Single nucleotide variant (synonymous variant +1 more)	GIGYF1-related disorder	GBenign
Select item 3040797	NM_001375765.1(GIGYF1):c.1087GAG[1] (p.Glu364del)	GIGYF1 (E364del)	Microsatellite (inframe deletion +1 more)	GIGYF1-related disorder	GBenign
Select item 3060514	NM_001375765.1(GIGYF1):c.837A>G (p.Arg279=)	GIGYF1	Single nucleotide variant (synonymous variant +1 more)	GIGYF1-related disorder	GBenign
Select item 3057740	NM_001375765.1(GIGYF1):c.798G>C (p.Gly266=)	GIGYF1	Single nucleotide variant (synonymous variant +1 more)	GIGYF1-related disorder	GLikely benign
Select item 3030657	NM_001375765.1(GIGYF1):c.671_680del (p.Asp224fs)	GIGYF1 (D224fs)	Deletion (frameshift variant +1 more)	GIGYF1-related disorder	GLikely pathogenic
Select item 3039824	NM_001375765.1(GIGYF1):c.669C>T (p.Gly223=)	GIGYF1	Single nucleotide variant (synonymous variant +1 more)	GIGYF1-related disorder	GLikely benign
Select item 3037283	NM_001375765.1(GIGYF1):c.661C>T (p.Arg221Ter)	GIGYF1 (R221*)	Single nucleotide variant (nonsense +1 more)	GIGYF1-related disorder	GLikely pathogenic
Select item 3058411	NM_001375765.1(GIGYF1):c.524-10C>T	GIGYF1	Single nucleotide variant (intron variant)	GIGYF1-related disorder	GLikely benign
Select item 2631221	NM_001375765.1(GIGYF1):c.503A>C (p.Lys168Thr)	GIGYF1 (K168T)	Single nucleotide variant (missense variant +1 more)	GIGYF1-related disorder	GUncertain significance
Select item 3036387	NM_001375765.1(GIGYF1):c.486C>T (p.Gly162=)	GIGYF1	Single nucleotide variant (synonymous variant +1 more)	GIGYF1-related disorder	GLikely benign
Select item 1279754	NM_001375765.1(GIGYF1):c.482+8G>C	GIGYF1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 3061160	NM_001375765.1(GIGYF1):c.425del (p.Asp142fs)	GIGYF1 (D142fs)	Deletion (frameshift variant +1 more)	GIGYF1-related disorder	GLikely pathogenic
Select item 3041720	NM_001375765.1(GIGYF1):c.379G>A (p.Gly127Ser)	GIGYF1 (G127S)	Single nucleotide variant (missense variant +1 more)	GIGYF1-related disorder	GLikely benign
Select item 712666	NM_001375765.1(GIGYF1):c.363G>A (p.Thr121=)	GIGYF1	Single nucleotide variant (synonymous variant +1 more)	GIGYF1-related disorder +1 more	GBenign
Select item 2657762	NM_001375765.1(GIGYF1):c.330C>G (p.Pro110=)	GIGYF1	Single nucleotide variant (synonymous variant +1 more)	GIGYF1-related disorder +1 more	GLikely benign
Select item 3044363	NM_001375765.1(GIGYF1):c.231G>C (p.Leu77=)	GIGYF1	Single nucleotide variant (synonymous variant +1 more)	GIGYF1-related disorder	GBenign
Select item 3049796	NM_001375765.1(GIGYF1):c.199G>A (p.Ala67Thr)	GIGYF1 (A67T)	Single nucleotide variant (missense variant +1 more)	GIGYF1-related disorder	GLikely benign
Select item 3029196	NM_001375765.1(GIGYF1):c.84C>T (p.Ser28=)	GIGYF1	Single nucleotide variant (synonymous variant +1 more)	GIGYF1-related disorder	GLikely benign
Select item 3031990	NM_001375765.1(GIGYF1):c.57C>T (p.Gly19=)	GIGYF1	Single nucleotide variant (synonymous variant +1 more)	GIGYF1-related disorder	GBenign
Select item 3058402	NM_001375765.1(GIGYF1):c.51C>T (p.Ser17=)	GIGYF1	Single nucleotide variant (synonymous variant +1 more)	GIGYF1-related disorder	GLikely benign

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Items: 38