12770[HGNC] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +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 3264505	NM_003881.4(CCN5):c.32C>A (p.Ala11Asp)	CCN5, KCNK15-AS1 (A11D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139839	NM_003881.4(CCN5):c.80C>T (p.Pro27Leu)	CCN5, KCNK15-AS1 (P27L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139840	NM_003881.4(CCN5):c.95G>C (p.Cys32Ser)	CCN5, KCNK15-AS1 (C32S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139828	NM_003881.4(CCN5):c.103C>G (p.Pro35Ala)	CCN5, KCNK15-AS1 (P35A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139829	NM_003881.4(CCN5):c.113G>A (p.Arg38Gln)	CCN5, KCNK15-AS1 (R38Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139830	NM_003881.4(CCN5):c.119C>T (p.Pro40Leu)	CCN5, KCNK15-AS1 (P40L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459652	NM_003881.4(CCN5):c.236A>T (p.Gln79Leu)	CCN5, KCNK15-AS1 (Q79L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139831	NM_003881.4(CCN5):c.252C>T (p.Pro84=)	CCN5, KCNK15-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2467399	NM_003881.4(CCN5):c.260G>A (p.Arg87Gln)	CCN5, KCNK15-AS1 (R87Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714900	NM_003881.4(CCN5):c.273C>T (p.Cys91=)	CCN5, KCNK15-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3264507	NM_003881.4(CCN5):c.329G>T (p.Gly110Val)	CCN5, KCNK15-AS1 (G110V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139832	NM_003881.4(CCN5):c.376G>C (p.Gly126Arg)	CCN5, KCNK15-AS1 (G126R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139833	NM_003881.4(CCN5):c.404G>T (p.Ser135Ile)	CCN5, KCNK15-AS1 (S135I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139834	NM_003881.4(CCN5):c.479A>T (p.Glu160Val)	CCN5, KCNK15-AS1 (E160V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 717864	NM_003881.4(CCN5):c.505C>T (p.Leu169=)	CCN5, KCNK15-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2479341	NM_003881.4(CCN5):c.514C>A (p.Gln172Lys)	CCN5, KCNK15-AS1 (Q172K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139835	NM_003881.4(CCN5):c.577C>A (p.Pro193Thr)	CCN5, KCNK15-AS1 (P193T)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2470514	NM_003881.4(CCN5):c.596C>T (p.Thr199Met)	CCN5, KCNK15-AS1 (R117W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139836	NM_003881.4(CCN5):c.643C>T (p.Arg215Trp)	CCN5, KCNK15-AS1 (R215W)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 3139837	NM_003881.4(CCN5):c.647T>C (p.Val216Ala)	CCN5, KCNK15-AS1 (V216A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264508	NM_003881.4(CCN5):c.698T>C (p.Leu233Pro)	CCN5, KCNK15-AS1 (C151R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480039	NM_003881.4(CCN5):c.715C>T (p.Pro239Ser)	CCN5, KCNK15-AS1 (P239S)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 3139838	NM_003881.4(CCN5):c.727C>T (p.Arg243Cys)	CCN5, KCNK15-AS1 (R243C)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 3264506	NM_003881.4(CCN5):c.728G>A (p.Arg243His)	CCN5, KCNK15-AS1 (A161T +1 more)	Single nucleotide variant (missense variant)	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 2425559	NC_000020.10:g.(?_42223339)_(44638757_?)del	ACOT8, ADA +60 more	Deletion	Combined immunodeficiency due to STK4 deficiency	GPathogenic
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 816128	GRCh37/hg19 20q13.12(chr20:43182384-43480170)x3	PKIG, CCN5 +3 more	Copy number gain	not provided	GUncertain significance
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

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Items: 33