17117[HGNC] - ClinVar

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Items: 30

	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 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 3164348	NM_015945.12(SLC35C2):c.1057A>G (p.Asn353Asp)	SLC35C2 (N332D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478211	NM_015945.12(SLC35C2):c.1036A>C (p.Ser346Arg)	SLC35C2 (S325R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164353	NM_015945.12(SLC35C2):c.917G>T (p.Cys306Phe)	SLC35C2 (C335F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652368	NM_015945.12(SLC35C2):c.909C>T (p.Phe303=)	SLC35C2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2559972	NM_015945.12(SLC35C2):c.898T>A (p.Trp300Arg)	SLC35C2 (W186R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486959	NM_015945.12(SLC35C2):c.871C>G (p.Leu291Val)	SLC35C2 (L270V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319579	NM_015945.12(SLC35C2):c.698T>G (p.Phe233Cys)	SLC35C2 (F233C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360781	NM_015945.12(SLC35C2):c.695G>A (p.Arg232His)	SLC35C2 (R118H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401992	NM_015945.12(SLC35C2):c.688A>G (p.Ile230Val)	SLC35C2 (I116V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319578	NM_015945.12(SLC35C2):c.595G>A (p.Asp199Asn)	SLC35C2 (D228N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487819	NM_015945.12(SLC35C2):c.593T>C (p.Ile198Thr)	SLC35C2 (I198T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164352	NM_015945.12(SLC35C2):c.584A>G (p.Gln195Arg)	SLC35C2 (Q224R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164351	NM_015945.12(SLC35C2):c.553A>C (p.Met185Leu)	SLC35C2 (M164L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311827	NM_015945.12(SLC35C2):c.424C>G (p.Leu142Val)	SLC35C2 (L171V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164350	NM_015945.12(SLC35C2):c.389T>C (p.Ile130Thr)	SLC35C2 (I130T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164349	NM_015945.12(SLC35C2):c.247T>C (p.Tyr83His)	SLC35C2 (Y112H +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2493967	NM_015945.12(SLC35C2):c.215A>C (p.His72Pro)	SLC35C2 (H101P +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3319581	NM_015945.12(SLC35C2):c.104A>G (p.Asn35Ser)	SLC35C2 (N64S +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3319580	NM_015945.12(SLC35C2):c.88G>A (p.Gly30Ser)	SLC35C2 (G30S +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2461916	NM_015945.12(SLC35C2):c.58C>G (p.Leu20Val)	SLC35C2 (L20V +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2514568	NM_015945.12(SLC35C2):c.41C>T (p.Ala14Val)	SLC35C2 (A43V +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3248346	NC_000020.10:g.(?_44577592)_(45362473_?)del	CD40, CDH22 +12 more	Deletion	not provided	GPathogenic
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 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

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Items: 30