ClinVar for Gene (Select 116236) - ClinVar

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Links from Gene

Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3130557	NM_198147.3(ABHD15):c.638C>A (p.Ser213Tyr)	ABHD15, TP53I13 (S213Y)	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 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 3130536	NM_198147.3(ABHD15):c.413A>C (p.Asp138Ala)	ABHD15, TP53I13 (D138A)	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 3130515	NM_198147.3(ABHD15):c.1209G>C (p.Trp403Cys)	ABHD15 (W403C)	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 3130501	NM_198147.3(ABHD15):c.1016A>G (p.Asn339Ser)	ABHD15 (N339S)	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 2554040	NM_198147.3(ABHD15):c.1286G>A (p.Ser429Asn)	ABHD15 (S429N)	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 2523709	NM_198147.3(ABHD15):c.935G>A (p.Arg312His)	ABHD15 (R312H)	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 2512504	NM_198147.3(ABHD15):c.685G>A (p.Ala229Thr)	ABHD15 (A229T)	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 2509426	NM_198147.3(ABHD15):c.578G>C (p.Arg193Pro)	ABHD15, TP53I13 (R193P)	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 2469899	NM_198147.3(ABHD15):c.916A>G (p.Ser306Gly)	ABHD15 (S306G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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	ABHD15, ADAP2 +21 more	Deletion	Neurofibromatosis, type 1	GPathogenic
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 2405851	NM_198147.3(ABHD15):c.1369G>A (p.Glu457Lys)	ABHD15 (E457K)	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 2307659	NM_198147.3(ABHD15):c.1081C>G (p.Pro361Ala)	ABHD15 (P361A)	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 2300630	NM_198147.3(ABHD15):c.1391G>A (p.Arg464Gln)	ABHD15 (R464Q)	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 2251976	NM_198147.3(ABHD15):c.1342C>T (p.Arg448Trp)	ABHD15 (R448W)	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 2218045	NM_198147.3(ABHD15):c.560A>G (p.Tyr187Cys)	ABHD15, TP53I13 (Y187C)	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 2205112	NM_198147.3(ABHD15):c.1262C>T (p.Thr421Met)	ABHD15 (T421M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 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	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 154960	GRCh38/hg38 17q11.2(chr17:28947825-32490020)x1	ABHD15, ADAP2 +202 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 45