ABHD15[gene] - ClinVar

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

Search results

Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154960	GRCh38/hg38 17q11.2(chr17:28947825-32490020)x1	ABHD15, ADAP2 +202 more	Copy number loss	See cases	GPathogenic
Select item 2300630	NM_198147.3(ABHD15):c.1391G>A (p.Arg464Gln)	ABHD15 (R464Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405851	NM_198147.3(ABHD15):c.1369G>A (p.Glu457Lys)	ABHD15 (E457K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319485	NM_198147.3(ABHD15):c.1349T>C (p.Val450Ala)	ABHD15 (V450A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251976	NM_198147.3(ABHD15):c.1342C>T (p.Arg448Trp)	ABHD15 (R448W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319778	NM_198147.3(ABHD15):c.1330G>T (p.Ala444Ser)	ABHD15 (A444S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479145	NM_198147.3(ABHD15):c.1322G>A (p.Arg441His)	ABHD15 (R441H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214121	NM_198147.3(ABHD15):c.1316G>A (p.Arg439His)	ABHD15 (R439H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510340	NM_198147.3(ABHD15):c.1315C>T (p.Arg439Cys)	ABHD15 (R439C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554040	NM_198147.3(ABHD15):c.1286G>A (p.Ser429Asn)	ABHD15 (S429N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205112	NM_198147.3(ABHD15):c.1262C>T (p.Thr421Met)	ABHD15 (T421M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2454710	NM_198147.3(ABHD15):c.1253T>C (p.Phe418Ser)	ABHD15 (F418S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250904	NM_198147.3(ABHD15):c.1235T>C (p.Phe412Ser)	ABHD15 (F412S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130515	NM_198147.3(ABHD15):c.1209G>C (p.Trp403Cys)	ABHD15 (W403C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304129	NM_198147.3(ABHD15):c.1159C>T (p.Arg387Cys)	ABHD15 (R387C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203782	NM_198147.3(ABHD15):c.1091G>T (p.Gly364Val)	ABHD15 (G364V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411669	NM_198147.3(ABHD15):c.1084G>A (p.Val362Met)	ABHD15 (V362M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307659	NM_198147.3(ABHD15):c.1081C>G (p.Pro361Ala)	ABHD15 (P361A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130506	NM_198147.3(ABHD15):c.1072G>C (p.Ala358Pro)	ABHD15 (A358P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362432	NM_198147.3(ABHD15):c.1030G>A (p.Asp344Asn)	ABHD15 (D344N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341401	NM_198147.3(ABHD15):c.1022C>T (p.Pro341Leu)	ABHD15 (P341L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130501	NM_198147.3(ABHD15):c.1016A>G (p.Asn339Ser)	ABHD15 (N339S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523709	NM_198147.3(ABHD15):c.935G>A (p.Arg312His)	ABHD15 (R312H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469899	NM_198147.3(ABHD15):c.916A>G (p.Ser306Gly)	ABHD15 (S306G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518697	NM_198147.3(ABHD15):c.734C>T (p.Ser245Phe)	ABHD15 (S245F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130562	NM_198147.3(ABHD15):c.719C>T (p.Ser240Leu)	ABHD15 (S240L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512504	NM_198147.3(ABHD15):c.685G>A (p.Ala229Thr)	ABHD15 (A229T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130557	NM_198147.3(ABHD15):c.638C>A (p.Ser213Tyr)	ABHD15, TP53I13 (S213Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509426	NM_198147.3(ABHD15):c.578G>C (p.Arg193Pro)	ABHD15, TP53I13 (R193P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261966	NM_198147.3(ABHD15):c.565G>T (p.Val189Phe)	ABHD15, TP53I13 (V189F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218045	NM_198147.3(ABHD15):c.560A>G (p.Tyr187Cys)	ABHD15, TP53I13 (Y187C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130546	NM_198147.3(ABHD15):c.550C>T (p.Arg184Cys)	ABHD15, TP53I13 (R184C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319880	NM_198147.3(ABHD15):c.494A>G (p.Asn165Ser)	ABHD15, TP53I13 (N165S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540742	NM_198147.3(ABHD15):c.439G>A (p.Gly147Ser)	ABHD15, TP53I13 (G147S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130536	NM_198147.3(ABHD15):c.413A>C (p.Asp138Ala)	ABHD15, TP53I13 (D138A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319397	NM_198147.3(ABHD15):c.290C>G (p.Pro97Arg)	ABHD15, LOC130060609 +1 more (P97R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130533	NM_198147.3(ABHD15):c.145G>A (p.Glu49Lys)	ABHD15, LOC130060609 +1 more (E49K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319582	NM_198147.3(ABHD15):c.110C>A (p.Thr37Asn)	ABHD15, LOC130060609 +1 more (T37N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319298	NM_198147.3(ABHD15):c.85T>A (p.Trp29Arg)	ABHD15, LOC130060609 +1 more (W29R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647615	NM_198147.3(ABHD15):c.46G>C (p.Ala16Pro)	ABHD15, LOC130060609 +1 more (A16P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3130544	NM_198147.3(ABHD15):c.44T>C (p.Leu15Pro)	ABHD15, LOC130060609 +1 more (L15P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319684	NM_198147.3(ABHD15):c.10T>C (p.Trp4Arg)	ABHD15, LOC130060609 +1 more (W4R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427184	NC_000017.10:g.(?_26684694)_(29701173_?)dup	ABHD15, ADAP2 +54 more	Duplication	not provided	GUncertain significance
Select item 2422714	NC_000017.10:g.(?_27573882)_(29576157_?)del	CORO6, ABHD15 +21 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 1526572	GRCh37/hg19 17p11.2-q11.2(chr17:21690653-28281232)	ABHD15, ALDOC +49 more	Copy number gain	not specified	GPathogenic
Select item 980157	GRCh37/hg19 17q11.2(chr17:27573641-28206747)x3	TAOK1, SSH2 +7 more	Copy number gain	not provided	GUncertain significance
Select item 815920	GRCh37/hg19 17q11.1-11.2(chr17:25274363-28450707)x3	ABHD15, ALDOC +49 more	Copy number gain	not provided	GPathogenic
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 624545	GRCh37/hg19 17q11.1-11.2(chr17:25403446-31685464)x3	ABHD15, ADAP2 +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 523166	GRCh37/hg19 17q11.1-11.2(chr17:25248166-30645676)x1	LYRM9, MIR144 +72 more	Copy number loss	Mitogen-activated protein kinase kinase inhibitor response	Gdrug response
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 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: 52