16157[HGNC] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 46

	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 2493999	NM_080752.4(ZSWIM3):c.74G>A (p.Arg25Lys)	ZSWIM3 (R25K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3260120	NM_080752.4(ZSWIM3):c.206G>A (p.Arg69Lys)	ZSWIM3 (R69K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601914	NM_080752.4(ZSWIM3):c.211C>T (p.Arg71Trp)	ZSWIM3 (R71W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199519	NM_080752.4(ZSWIM3):c.225G>A (p.Met75Ile)	ZSWIM3 (M75I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199520	NM_080752.4(ZSWIM3):c.240G>T (p.Leu80Phe)	ZSWIM3 (L80F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199521	NM_080752.4(ZSWIM3):c.260G>A (p.Arg87Lys)	ZSWIM3 (R87K)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2472870	NM_080752.4(ZSWIM3):c.317A>T (p.Lys106Ile)	ZSWIM3 (K106I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280417	NM_080752.4(ZSWIM3):c.320T>C (p.Val107Ala)	ZSWIM3 (V107A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199522	NM_080752.4(ZSWIM3):c.325A>C (p.Ser109Arg)	ZSWIM3 (S109R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3260123	NM_080752.4(ZSWIM3):c.419C>G (p.Thr140Ser)	ZSWIM3 (T140S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319017	NM_080752.4(ZSWIM3):c.565A>G (p.Met189Val)	ZSWIM3 (M189V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215788	NM_080752.4(ZSWIM3):c.605G>A (p.Arg202Gln)	ZSWIM3 (R202Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282294	NM_080752.4(ZSWIM3):c.784G>C (p.Val262Leu)	ZSWIM3 (V262L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199523	NM_080752.4(ZSWIM3):c.823G>A (p.Asp275Asn)	ZSWIM3 (D275N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319844	NM_080752.4(ZSWIM3):c.890T>A (p.Ile297Asn)	ZSWIM3 (I297N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3260121	NM_080752.4(ZSWIM3):c.935G>T (p.Arg312Leu)	ZSWIM3 (R312L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199524	NM_080752.4(ZSWIM3):c.959G>A (p.Arg320His)	ZSWIM3 (R320H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392973	NM_080752.4(ZSWIM3):c.1006C>T (p.Arg336Trp)	ZSWIM3 (R336W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199514	NM_080752.4(ZSWIM3):c.1034C>T (p.Ala345Val)	ZSWIM3 (A345V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608867	NM_080752.4(ZSWIM3):c.1039C>G (p.Leu347Val)	ZSWIM3 (L347V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329246	NM_080752.4(ZSWIM3):c.1046A>G (p.Asn349Ser)	ZSWIM3 (N349S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592856	NM_080752.4(ZSWIM3):c.1315C>T (p.Pro439Ser)	ZSWIM3 (P439S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199515	NM_080752.4(ZSWIM3):c.1342A>C (p.Ser448Arg)	ZSWIM3 (S448R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3260119	NM_080752.4(ZSWIM3):c.1426G>A (p.Ala476Thr)	ZSWIM3 (A476T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243190	NM_080752.4(ZSWIM3):c.1495C>T (p.His499Tyr)	ZSWIM3 (H499Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523301	NM_080752.4(ZSWIM3):c.1565A>G (p.His522Arg)	ZSWIM3 (H522R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283518	NM_080752.4(ZSWIM3):c.1576A>C (p.Met526Leu)	ZSWIM3 (M526L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511160	NM_080752.4(ZSWIM3):c.1597G>A (p.Val533Ile)	ZSWIM3 (V533I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2339746	NM_080752.4(ZSWIM3):c.1721C>T (p.Pro574Leu)	ZSWIM3 (P574L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251611	NM_080752.4(ZSWIM3):c.1727G>A (p.Gly576Asp)	ZSWIM3 (G576D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199517	NM_080752.4(ZSWIM3):c.1744C>T (p.Arg582Cys)	ZSWIM3 (R582C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529845	NM_080752.4(ZSWIM3):c.1791G>C (p.Glu597Asp)	ZSWIM3 (E597D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264634	NM_080752.4(ZSWIM3):c.1844G>A (p.Arg615Gln)	ZSWIM3 (R615Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3260122	NM_080752.4(ZSWIM3):c.1921C>T (p.Arg641Cys)	ZSWIM3 (R641C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301820	NM_080752.4(ZSWIM3):c.1937G>A (p.Arg646His)	ZSWIM3 (R646H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300193	NM_080752.4(ZSWIM3):c.1949A>C (p.Asp650Ala)	ZSWIM3 (D650A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318082	NM_080752.4(ZSWIM3):c.2018G>A (p.Arg673His)	ZSWIM3 (R673H)	Single nucleotide variant (missense variant +1 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 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 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 46