ClinVar for Gene (Select 90203) - ClinVar

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Links from Gene

Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3321298	NM_033421.4(SNX21):c.419T>A (p.Val140Asp)	SNX21 (V140D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321297	NM_033421.4(SNX21):c.462C>T (p.Ala154=)	SNX21 (P158L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3321296	NM_033421.4(SNX21):c.568A>G (p.Met190Val)	SNX21 (M190V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3321295	NM_033421.4(SNX21):c.641G>A (p.Arg214Gln)	SNX21 (R214Q)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3248279	NC_000020.10:g.(?_42223339)_(45362473_?)del	ACOT8, ADA +72 more	Deletion	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic
Select item 3167234	NM_033421.4(SNX21):c.907C>T (p.Arg303Trp)	SNX21 (R303W)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3167233	NM_033421.4(SNX21):c.784C>T (p.Leu262Phe)	SNX21 (L262F)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3167231	NM_033421.4(SNX21):c.443A>G (p.Tyr148Cys)	SNX21 (Y148C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167230	NM_033421.4(SNX21):c.402A>C (p.Glu134Asp)	SNX21 (E134D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167229	NM_033421.4(SNX21):c.29T>C (p.Met10Thr)	LOC130065970, SNX21 (M10T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167228	NM_033421.4(SNX21):c.174C>A (p.Ser58Arg)	LOC130065971, SNX21 (S58R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602832	NM_033421.4(SNX21):c.459C>T (p.Leu153=)	SNX21 (S157L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2596115	NM_033421.4(SNX21):c.479C>T (p.Pro160Leu)	SNX21 (P160L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2557977	NM_033421.4(SNX21):c.4C>G (p.His2Asp)	LOC130065969, SNX21 (H2D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535017	NM_033421.4(SNX21):c.70G>A (p.Gly24Ser)	LOC130065970, SNX21 (G24S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532401	NM_033421.4(SNX21):c.992G>A (p.Arg331Gln)	SNX21 (R331Q)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2526943	NM_033421.4(SNX21):c.595C>T (p.Arg199Trp)	SNX21 (R199W)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2525531	NM_033421.4(SNX21):c.509G>A (p.Arg170His)	SNX21 (R170H)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2479845	NM_033421.4(SNX21):c.596G>A (p.Arg199Gln)	SNX21 (R199Q)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2473994	NM_033421.4(SNX21):c.111G>C (p.Glu37Asp)	LOC130065970, SNX21 (E37D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462116	NM_033421.4(SNX21):c.518C>T (p.Ser173Leu)	SNX21 (S173L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2425559	NC_000020.10:g.(?_42223339)_(44638757_?)del	ACOT8, ADA +60 more	Deletion	Combined immunodeficiency due to STK4 deficiency	GPathogenic
Select item 2394539	NM_033421.4(SNX21):c.734G>A (p.Arg245Gln)	SNX21 (R245Q)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2369418	NM_033421.4(SNX21):c.560G>A (p.Arg187Gln)	SNX21 (R187Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2367967	NM_033421.4(SNX21):c.635G>A (p.Arg212His)	SNX21 (R212H)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2349091	NM_033421.4(SNX21):c.676G>A (p.Val226Met)	SNX21 (V226M)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2332967	NM_033421.4(SNX21):c.769C>G (p.Arg257Gly)	SNX21 (R257G)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2326478	NM_033421.4(SNX21):c.491A>G (p.Gln164Arg)	SNX21 (Q164R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2320044	NM_033421.4(SNX21):c.842G>A (p.Arg281His)	SNX21 (R281H)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2295705	NM_033421.4(SNX21):c.31G>T (p.Ala11Ser)	LOC130065970, SNX21 (A11S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252837	NM_033421.4(SNX21):c.640C>T (p.Arg214Trp)	SNX21 (R214W)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2228791	NM_033421.4(SNX21):c.508C>T (p.Arg170Cys)	SNX21 (R170C)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2213779	NM_033421.4(SNX21):c.602G>A (p.Arg201His)	SNX21 (R201H)	Single nucleotide variant (3 prime UTR variant +2 more)	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)	AAR2, ABHD12 +540 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 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	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

ClinVar

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Links from Gene

Items: 40