"PreventionGenetics, part of Exact Sciences"[submitter] AND "GIGYF2"[g - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3050052	NM_001103146.3(GIGYF2):c.73A>G (p.Thr25Ala)	GIGYF2 (T25A)	Single nucleotide variant (missense variant +1 more)	GIGYF2-related condition	GLikely benign
Select item 3042568	NM_001103146.3(GIGYF2):c.129C>T (p.Tyr43=)	GIGYF2	Single nucleotide variant (synonymous variant +1 more)	GIGYF2-related condition	GLikely benign
Select item 3058521	NM_001103146.3(GIGYF2):c.162A>G (p.Lys54=)	GIGYF2	Single nucleotide variant (synonymous variant +1 more)	GIGYF2-related condition	GLikely benign
Select item 2635532	NM_001103146.3(GIGYF2):c.171+4A>G	GIGYF2	Single nucleotide variant (intron variant)	GIGYF2-related condition	GUncertain significance
Select item 3033809	NM_001103146.3(GIGYF2):c.241C>T (p.Leu81=)	GIGYF2	Single nucleotide variant (synonymous variant +1 more)	GIGYF2-related condition	GLikely benign
Select item 3044764	NM_001103146.3(GIGYF2):c.268-11_268-6del	GIGYF2	Deletion (intron variant)	GIGYF2-related condition	GLikely benign
Select item 3043802	NM_001103146.3(GIGYF2):c.533-10719T>C	GIGYF2, KCNJ13	Single nucleotide variant (intron variant +1 more)	GIGYF2-related condition	GLikely benign
Select item 2215309	NM_001103146.3(GIGYF2):c.562A>G (p.Thr188Ala)	GIGYF2 (T188A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3057769	NM_001103146.3(GIGYF2):c.1047T>A (p.Asp349Glu)	GIGYF2 (D343E +2 more)	Single nucleotide variant (missense variant +1 more)	GIGYF2-related condition	GLikely benign
Select item 3038150	NM_001103146.3(GIGYF2):c.1268C>T (p.Pro423Leu)	GIGYF2 (P417L +2 more)	Single nucleotide variant (missense variant +1 more)	GIGYF2-related condition	GBenign
Select item 1295070	NM_001103146.3(GIGYF2):c.1378C>A (p.Pro460Thr)	GIGYF2 (P454T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 3061686	NM_001103146.3(GIGYF2):c.1640-3T>C	GIGYF2	Single nucleotide variant (intron variant)	GIGYF2-related condition	GLikely benign
Select item 3033387	NM_001103146.3(GIGYF2):c.1731C>T (p.Phe577=)	GIGYF2	Single nucleotide variant (synonymous variant +1 more)	GIGYF2-related condition	GBenign
Select item 3025222	NM_001103146.3(GIGYF2):c.1910C>T (p.Ala637Val)	GIGYF2 (A631V +2 more)	Single nucleotide variant (missense variant +1 more)	GIGYF2-related condition +1 more	GBenign/Likely benign
Select item 3037673	NM_001103146.3(GIGYF2):c.2151G>A (p.Thr717=)	GIGYF2	Single nucleotide variant (synonymous variant +1 more)	GIGYF2-related condition	GLikely benign
Select item 3046669	NM_001103146.3(GIGYF2):c.2208+9C>T	GIGYF2	Single nucleotide variant (intron variant)	GIGYF2-related condition	GLikely benign
Select item 3028971	NM_001103146.3(GIGYF2):c.2728C>T (p.Gln910Ter)	GIGYF2 (Q904* +2 more)	Single nucleotide variant (nonsense +1 more)	GIGYF2-related condition	GUncertain significance
Select item 1294567	NM_001103146.3(GIGYF2):c.3045GCA[8] (p.Gln1022dup)	GIGYF2	Microsatellite (inframe_insertion +1 more)	not provided +1 more	GBenign
Select item 3029521	NM_001103146.3(GIGYF2):c.3489A>G (p.Glu1163=)	GIGYF2	Single nucleotide variant (synonymous variant +1 more)	GIGYF2-related condition	GLikely benign
Select item 3037286	NM_001103146.3(GIGYF2):c.3512A>G (p.His1171Arg)	GIGYF2 (H1165R +2 more)	Single nucleotide variant (missense variant +1 more)	GIGYF2-related condition	GLikely benign
Select item 3059905	NM_001103146.3(GIGYF2):c.3626_3646del (p.Leu1209_Gln1215del)	GIGYF2	Deletion (inframe deletion +1 more)	GIGYF2-related condition	GBenign
Select item 3039772	NM_001103146.3(GIGYF2):c.3630A>G (p.Pro1210=)	GIGYF2	Single nucleotide variant (synonymous variant +1 more)	GIGYF2-related condition	GBenign
Select item 3043365	NM_001103146.3(GIGYF2):c.3645G>A (p.Gln1215=)	GIGYF2	Single nucleotide variant (synonymous variant +1 more)	GIGYF2-related condition	GLikely benign
Select item 2652015	NM_001103146.3(GIGYF2):c.3673_3684del (p.Pro1225_Gln1228del)	GIGYF2	Deletion (inframe_deletion +1 more)	not provided +1 more	GBenign/Likely benign
Select item 3043094	NM_001103146.3(GIGYF2):c.3753A>G (p.Gln1251=)	GIGYF2	Single nucleotide variant (synonymous variant +1 more)	GIGYF2-related condition	GLikely benign
Select item 3038024	NM_001103146.3(GIGYF2):c.3855G>A (p.Ser1285=)	GIGYF2	Single nucleotide variant (synonymous variant +1 more)	GIGYF2-related condition	GBenign

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Items: 26