20154[HGNC] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57743	GRCh38/hg38 14q11.2(chr14:19755249-22741281)x1	ABHD4, ANG +312 more	Copy number loss	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 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 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 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 57246	GRCh38/hg38 14q11.2(chr14:20151149-23442195)x3	ABHD4, ACIN1 +399 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 148657	GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3	LOC124958010, LOC124958011 +529 more	Copy number gain	See cases	GLikely pathogenic
Select item 152232	GRCh38/hg38 14q11.2(chr14:21010790-22951814)x3	ABHD4, ARHGEF40 +242 more	Copy number gain	See cases	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
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

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Items: 46