ClinVar for Gene (Select 63874) - ClinVar

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

Links from Gene

Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3322846	NM_022060.3(ABHD4):c.689C>A (p.Ala230Glu)	ABHD4 (A206E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3322750	NM_022060.3(ABHD4):c.260A>G (p.Asn87Ser)	ABHD4 (N63S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3322660	NM_022060.3(ABHD4):c.253A>T (p.Ile85Phe)	ABHD4 (I61F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3322476	NM_022060.3(ABHD4):c.833G>A (p.Arg278Gln)	ABHD4 (R278Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131068	NM_022060.3(ABHD4):c.974A>T (p.Asp325Val)	ABHD4 (D325V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131067	NM_022060.3(ABHD4):c.890C>T (p.Thr297Met)	ABHD4 (T297M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131061	NM_022060.3(ABHD4):c.809T>C (p.Met270Thr)	ABHD4 (M270T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131058	NM_022060.3(ABHD4):c.646G>A (p.Gly216Ser)	ABHD4 (G192S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131055	NM_022060.3(ABHD4):c.62G>A (p.Arg21His)	ABHD4 (R21H)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3131054	NM_022060.3(ABHD4):c.580G>A (p.Val194Met)	ABHD4 (V194M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131047	NM_022060.3(ABHD4):c.533C>T (p.Pro178Leu)	ABHD4 (P154L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131043	NM_022060.3(ABHD4):c.532C>T (p.Pro178Ser)	ABHD4 (P178S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131039	NM_022060.3(ABHD4):c.31G>A (p.Gly11Ser)	ABHD4 (G11S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2554692	NM_022060.3(ABHD4):c.419T>C (p.Met140Thr)	ABHD4 (M116T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512479	NM_022060.3(ABHD4):c.554G>A (p.Arg185His)	ABHD4 (R185H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470968	NM_022060.3(ABHD4):c.281G>A (p.Arg94His)	ABHD4 (R70H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410984	NM_022060.3(ABHD4):c.209C>T (p.Pro70Leu)	ABHD4 (P46L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373839	NM_022060.3(ABHD4):c.203G>A (p.Arg68His)	ABHD4 (R44H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282846	NM_022060.3(ABHD4):c.818G>A (p.Arg273Gln)	ABHD4 (R273Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229062	NM_022060.3(ABHD4):c.562C>G (p.Pro188Ala)	ABHD4 (P188A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206186	NM_022060.3(ABHD4):c.559C>T (p.Pro187Ser)	ABHD4 (P187S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808729	GRCh37/hg19 14q11.2(chr14:20690196-23114522)x1	ABHD4, ANG +52 more	Copy number loss	not provided	GPathogenic
Select item 1703540	GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203)	ABHD4, ACIN1 +197 more	Copy number gain	Seizure	GPathogenic
Select item 1676204	NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del	DHRS1, NYNRIN +190 more	Deletion	Brain-lung-thyroid syndrome	GPathogenic
Select item 1326312	GRCh37/hg19 14q11.2(chr14:20925965-23649548)x3	PRMT5, PSMB11 +60 more	Copy number gain	14q11.2 microduplication	GLikely pathogenic
Select item 981171	Single allele	ABHD4, DAD1 +5 more	Deletion	not provided	GUncertain significance
Select item 973024	GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3	AKAP6, MDP1 +187 more	Copy number gain	not provided	Gnot provided
Select item 815629	GRCh37/hg19 14q11.2(chr14:21143933-23297667)x1	OR10G3, OXA1L +33 more	Copy number loss	not provided	GPathogenic
Select item 815628	GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3	ABHD4, ACIN1 +187 more	Copy number gain	not provided	GPathogenic
Select item 666446	GRCh37/hg19 14q11.2(chr14:21717093-24027220)x3	SLC22A17, SLC7A7 +47 more	Copy number gain	not provided	GLikely pathogenic
Select item 625814	GRCh37/hg19 14q11.2-12(chr14:19100682-28730087)	ARHGEF40, BCL2L2 +152 more	Copy number gain	not provided	GPathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic
Select item 394361	GRCh37/hg19 14q11.2-13.1(chr14:19794561-34049214)x3	OR5AU1, OR6S1 +164 more	Copy number gain	See cases	GPathogenic
Select item 253659	GRCh37/hg19 14q11.2-12(chr14:19794561-27768254)x3	ABHD4, ACIN1 +149 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 152232	GRCh38/hg38 14q11.2(chr14:21010790-22951814)x3	ABHD4, ARHGEF40 +242 more	Copy number gain	See cases	GUncertain significance
Select item 148657	GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3	LOC124958010, LOC124958011 +529 more	Copy number gain	See cases	GLikely pathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 57743	GRCh38/hg38 14q11.2(chr14:19755249-22741281)x1	ABHD4, ANG +312 more	Copy number loss	See cases	GPathogenic
Select item 57246	GRCh38/hg38 14q11.2(chr14:20151149-23442195)x3	ABHD4, ACIN1 +399 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

Links from Gene

Items: 46