ClinVar for MedGen (Select 897005) - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2671749	NM_014008.5(CCDC22):c.284C>T (p.Pro95Leu)	CCDC22 (P95L)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome 2	GUncertain significance
Select item 2628331	NM_014008.5(CCDC22):c.909+122G>A	CCDC22	Single nucleotide variant (intron variant)	Ritscher-Schinzel syndrome 2	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 2431770	NM_014008.5(CCDC22):c.1852G>C (p.Ala618Pro)	CCDC22 (A618P)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome 2	GUncertain significance
Select item 2207497	NM_014008.5(CCDC22):c.973G>T (p.Val325Phe)	CCDC22 (V325F)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome 2 +1 more	GUncertain significance
Select item 1805884	NM_014008.5(CCDC22):c.142G>A (p.Ala48Thr)	CCDC22 (A48T)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1805180	NM_014008.5(CCDC22):c.319C>T (p.Arg107Cys)	CCDC22 (R107C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1699426	NM_014008.5(CCDC22):c.622G>A (p.Glu208Lys)	CCDC22 (E208K)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome 2	GConflicting classifications of pathogenicity
Select item 1679235	NM_014008.5(CCDC22):c.1882T>C (p.Ter628Arg)	CCDC22	Single nucleotide variant (stop lost)	Ritscher-Schinzel syndrome 2	GUncertain significance
Select item 1527951	NM_014008.5(CCDC22):c.2T>C (p.Met1Thr)	CCDC22 (M1T)	Single nucleotide variant (missense variant +1 more)	CCDC22-related disorder +1 more	GUncertain significance
Select item 1334483	NM_014008.5(CCDC22):c.1212+4G>T	CCDC22	Single nucleotide variant (intron variant)	CCDC22-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1306352	NM_014008.5(CCDC22):c.1873C>T (p.Arg625Trp)	CCDC22 (R625W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1193798	NM_014008.5(CCDC22):c.1730C>T (p.Thr577Ile)	CCDC22 (T577I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1032586	NM_014008.5(CCDC22):c.383G>A (p.Arg128Gln)	CCDC22 (R128Q)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome 2	GUncertain significance
Select item 1032585	NM_014008.5(CCDC22):c.1343G>T (p.Arg448Leu)	CCDC22 (R448L)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome 2	GUncertain significance
Select item 1031226	NM_014008.5(CCDC22):c.1610C>T (p.Ala537Val)	CCDC22 (A537V)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome 2	GUncertain significance
Select item 1031225	NM_014008.5(CCDC22):c.110C>T (p.Ala37Val)	CCDC22 (A37V)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome 2	GUncertain significance
Select item 995994	NM_014008.5(CCDC22):c.514_515delinsAG (p.Pro172Arg)	CCDC22 (P172R)	Indel (missense variant)	Ritscher-Schinzel syndrome 2	GUncertain significance
Select item 976070	NM_014008.5(CCDC22):c.1636-6G>C	CCDC22	Single nucleotide variant (intron variant)	Ritscher-Schinzel syndrome 2	GUncertain significance
Select item 975935	NM_014008.5(CCDC22):c.1867C>T (p.Arg623Trp)	CCDC22 (R623W)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome 2	GUncertain significance
Select item 871786	NM_014008.5(CCDC22):c.1388C>G (p.Ala463Gly)	CCDC22 (A463G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 638386	NM_014008.5(CCDC22):c.197G>A (p.Arg66His)	CCDC22 (R66H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 284920	NM_014008.5(CCDC22):c.1540-18T>C	CCDC22	Single nucleotide variant (intron variant)	Ritscher-Schinzel syndrome 2 +1 more	GBenign
Select item 218106	NM_014008.5(CCDC22):c.1670A>G (p.Tyr557Cys)	CCDC22 (Y557C)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome 2	GPathogenic
Select item 218105	NM_014008.5(CCDC22):c.49A>G (p.Thr17Ala)	CCDC22 (T17A)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome 2	GPathogenic
Select item 210617	NM_014008.5(CCDC22):c.536-7C>T	CCDC22	Single nucleotide variant (intron variant)	Ritscher-Schinzel syndrome 2 +2 more	GBenign/Likely benign
Select item 95550	NM_014008.5(CCDC22):c.747= (p.Gln249=)	CCDC22	Single nucleotide variant (no sequence alteration)	Ritscher-Schinzel syndrome 2 +1 more	GBenign
Select item 95548	NM_014008.5(CCDC22):c.1288G>A (p.Ala430Thr)	CCDC22 (A430T)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome 2 +2 more	GBenign

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Items: 37