Related gene-specific medical variations for Gene (Select 28952) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366298	NM_014008.5(CCDC22):c.53C>A (p.Ala18Glu)	CCDC22 (A18E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362047	NM_014008.5(CCDC22):c.1019A>G (p.Gln340Arg)	CCDC22 (Q340R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361769	NM_014008.5(CCDC22):c.1058C>T (p.Ala353Val)	CCDC22 (A353V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361509	NM_014008.5(CCDC22):c.837G>C (p.Trp279Cys)	CCDC22 (W279C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359346	NM_014008.5(CCDC22):c.1720A>G (p.Ile574Val)	CCDC22 (I574V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441877	NM_014008.5(CCDC22):c.190C>G (p.Arg64Gly)	CCDC22 (R64G)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome 2	GUncertain significance
Select item 2439795	NM_014008.5(CCDC22):c.542G>A (p.Arg181Gln)	CCDC22 (R181Q)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome 2	GUncertain significance
Select item 2439794	NM_014008.5(CCDC22):c.1862T>G (p.Leu621Arg)	CCDC22 (L621R)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome 2	GUncertain significance
Select item 2439793	NM_014008.5(CCDC22):c.1000C>G (p.Leu334Val)	CCDC22 (L334V)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome 2	GUncertain significance
Select item 2439792	NM_014008.5(CCDC22):c.1501G>A (p.Val501Met)	CCDC22 (V501M)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome 2	GUncertain significance
Select item 2439791	NM_014008.5(CCDC22):c.1610C>G (p.Ala537Gly)	CCDC22 (A537G)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome 2	GUncertain significance
Select item 2439790	NM_014008.5(CCDC22):c.559C>T (p.Pro187Ser)	CCDC22 (P187S)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome 2	GUncertain significance
Select item 2439789	NM_014008.5(CCDC22):c.382C>T (p.Arg128Trp)	CCDC22 (R128W)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome 2	GUncertain significance
Select item 2439788	NM_014008.5(CCDC22):c.552G>C (p.Gln184His)	CCDC22 (Q184H)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome 2	GUncertain significance
Select item 2439787	NM_014008.5(CCDC22):c.1222G>A (p.Glu408Lys)	CCDC22 (E408K)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome 2	GUncertain significance
Select item 1337683	NM_014009.4(FOXP3):c.*867G>C	CCDC22, FOXP3	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 975508	NM_014008.5(CCDC22):c.909+8C>T	CCDC22	Single nucleotide variant (intron variant)	Intellectual disability	GLikely benign
Select item 859614	NM_014009.4(FOXP3):c.*878A>G	CCDC22, FOXP3	Single nucleotide variant (3 prime UTR variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance