"GCC2-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3040511	NM_181453.4(GCC2):c.88C>A (p.Leu30Ile)	GCC2 (L30I)	Single nucleotide variant (missense variant +1 more)	GCC2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 780830	NM_181453.4(GCC2):c.185C>G (p.Pro62Arg)	GCC2 (P62R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 3042982	NM_181453.4(GCC2):c.371A>G (p.His124Arg)	GCC2 (H124R +1 more)	Single nucleotide variant (missense variant)	GCC2-related disorder	GLikely benign
Select item 775748	NM_181453.4(GCC2):c.780A>G (p.Glu260=)	GCC2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 3040087	NM_181453.4(GCC2):c.952A>G (p.Ile318Val)	GCC2 (I217V +1 more)	Single nucleotide variant (missense variant)	GCC2-related disorder	GLikely benign
Select item 774289	NM_181453.4(GCC2):c.1029A>G (p.Glu343=)	GCC2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 3055158	NM_181453.4(GCC2):c.1522A>G (p.Met508Val)	GCC2 (M407V +1 more)	Single nucleotide variant (missense variant)	GCC2-related disorder	GLikely benign
Select item 3044083	NM_181453.4(GCC2):c.1602C>T (p.Leu534=)	GCC2	Single nucleotide variant (synonymous variant)	GCC2-related disorder	GLikely benign
Select item 3046121	NM_181453.4(GCC2):c.1860A>G (p.Glu620=)	GCC2	Single nucleotide variant (synonymous variant)	GCC2-related disorder	GLikely benign
Select item 3033899	NM_181453.4(GCC2):c.1911C>T (p.Tyr637=)	GCC2	Single nucleotide variant (synonymous variant)	GCC2-related disorder	GBenign
Select item 3037115	NM_181453.4(GCC2):c.2352G>A (p.Gln784=)	GCC2	Single nucleotide variant (synonymous variant)	GCC2-related disorder	GLikely benign
Select item 3038603	NM_181453.4(GCC2):c.2558A>G (p.Glu853Gly)	GCC2 (E752G +1 more)	Single nucleotide variant (missense variant)	GCC2-related disorder	GBenign
Select item 716758	NM_181453.4(GCC2):c.3359C>G (p.Thr1120Ser)	GCC2 (T1120S)	Single nucleotide variant (missense variant +1 more)	GCC2-related disorder +1 more	GBenign
Select item 3057912	NM_181453.4(GCC2):c.3543C>T (p.Asn1181=)	GCC2	Single nucleotide variant (synonymous variant)	GCC2-related disorder	GLikely benign
Select item 3033242	NM_181453.4(GCC2):c.3613+3G>A	GCC2	Single nucleotide variant (intron variant)	GCC2-related disorder	GLikely benign
Select item 3060943	NM_181453.4(GCC2):c.3930+4C>T	GCC2	Single nucleotide variant (intron variant)	GCC2-related disorder	GBenign
Select item 3059986	NM_181453.4(GCC2):c.4140A>G (p.Gln1380=)	GCC2	Single nucleotide variant (synonymous variant)	GCC2-related disorder	GBenign
Select item 780831	NM_181453.4(GCC2):c.4437G>T (p.Pro1479=)	GCC2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign