CDH22[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	AAR2, ACOT8 +568 more	Copy number loss	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 2599461	NM_021248.3(CDH22):c.2479G>A (p.Ala827Thr)	CDH22 (A827T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323896	NM_021248.3(CDH22):c.2464G>A (p.Asp822Asn)	CDH22 (D822N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259866	NM_021248.3(CDH22):c.2458C>T (p.Arg820Cys)	CDH22 (R820C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332986	NM_021248.3(CDH22):c.2453G>T (p.Gly818Val)	CDH22 (G818V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141200	NM_021248.3(CDH22):c.2363T>C (p.Leu788Pro)	CDH22 (L788P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403214	NM_021248.3(CDH22):c.2362C>A (p.Leu788Met)	CDH22 (L788M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1236592	NM_021248.3(CDH22):c.2345C>T (p.Ala782Val)	CDH22 (A782V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2392100	NM_021248.3(CDH22):c.2288C>T (p.Ser763Leu)	CDH22 (S763L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141199	NM_021248.3(CDH22):c.2221G>C (p.Glu741Gln)	CDH22 (E741Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392231	NM_021248.3(CDH22):c.2153C>G (p.Ala718Gly)	CDH22 (A718G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141198	NM_021248.3(CDH22):c.2152G>C (p.Ala718Pro)	CDH22 (A718P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362622	NM_021248.3(CDH22):c.2150G>C (p.Gly717Ala)	CDH22 (G717A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343468	NM_021248.3(CDH22):c.2141C>G (p.Ser714Trp)	CDH22 (S714W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652367	NM_021248.3(CDH22):c.2133C>G (p.Gly711=)	CDH22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3141196	NM_021248.3(CDH22):c.2131G>A (p.Gly711Ser)	CDH22 (G711S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349515	NM_021248.3(CDH22):c.2129C>G (p.Ala710Gly)	CDH22 (A710G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513612	NM_021248.3(CDH22):c.2104G>A (p.Gly702Arg)	CDH22 (G702R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275002	NM_021248.3(CDH22):c.2103C>A (p.Asp701Glu)	CDH22 (D701E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510845	NM_021248.3(CDH22):c.2053A>T (p.Met685Leu)	CDH22 (M685L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141195	NM_021248.3(CDH22):c.2038A>G (p.Thr680Ala)	CDH22 (T680A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492736	NM_021248.3(CDH22):c.2003T>A (p.Ile668Asn)	CDH22 (I668N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490846	NM_021248.3(CDH22):c.1975G>C (p.Glu659Gln)	CDH22 (E659Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773919	NM_021248.3(CDH22):c.1872C>T (p.Pro624=)	CDH22	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2480281	NM_021248.3(CDH22):c.1869C>G (p.Ser623Arg)	CDH22 (S623R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543206	NM_021248.3(CDH22):c.1763C>T (p.Thr588Ile)	CDH22 (T588I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513665	NM_021248.3(CDH22):c.1693G>A (p.Val565Met)	CDH22 (V565M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325957	NM_021248.3(CDH22):c.1635C>A (p.Asn545Lys)	CDH22 (N545K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491665	NM_021248.3(CDH22):c.1510G>A (p.Glu504Lys)	CDH22 (E504K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141193	NM_021248.3(CDH22):c.1441T>A (p.Ser481Thr)	CDH22 (S481T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536615	NM_021248.3(CDH22):c.1354G>A (p.Val452Met)	CDH22 (V452M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141192	NM_021248.3(CDH22):c.1067T>C (p.Val356Ala)	CDH22 (V356A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356427	NM_021248.3(CDH22):c.1049C>T (p.Ser350Phe)	CDH22 (S350F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356426	NM_021248.3(CDH22):c.1048T>A (p.Ser350Thr)	CDH22 (S350T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393412	NM_021248.3(CDH22):c.970G>A (p.Gly324Ser)	CDH22 (G324S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384747	NM_021248.3(CDH22):c.787G>A (p.Val263Ile)	CDH22 (V263I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399743	NM_021248.3(CDH22):c.735C>G (p.Ile245Met)	CDH22 (I245M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333764	NM_021248.3(CDH22):c.436C>T (p.Arg146Cys)	CDH22 (R146C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536350	NM_021248.3(CDH22):c.406C>T (p.Arg136Trp)	CDH22 (R136W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239065	NM_021248.3(CDH22):c.116C>T (p.Ala39Val)	CDH22 (A39V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472083	NM_021248.3(CDH22):c.88C>A (p.Pro30Thr)	CDH22 (P30T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346091	NM_021248.3(CDH22):c.16G>A (p.Glu6Lys)	CDH22 (E6K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1330181	GRCh37/hg19 20q13.12-13.13(chr20:42985044-48599046)x1	PREX1, PTGIS +79 more	Copy number loss	Developmental and epileptic encephalopathy, 26	GPathogenic
Select item 813269	Single allele	ACOT8, ACTR5 +124 more	Deletion	Focal-onset seizure	GLikely pathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	DZANK1, E2F1 +540 more	Copy number gain	See cases	GPathogenic

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Items: 48