GPR139[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +852 more	Copy number gain	See cases	GPathogenic
Select item 58085	GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3	LOC125146428, LOC125146429 +400 more	Copy number gain	See cases	GPathogenic
Select item 147965	GRCh38/hg38 16p12.3(chr16:19910619-20433405)x4	ACSM5, GP2 +5 more	Copy number gain	See cases	GUncertain significance
Select item 3282207	NM_001002911.4(GPR139):c.1048A>G (p.Lys350Glu)	GPR139 (K350E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101436	NM_001002911.4(GPR139):c.989C>T (p.Ala330Val)	GPR139 (A237V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101435	NM_001002911.4(GPR139):c.798G>A (p.Met266Ile)	GPR139 (M266I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101434	NM_001002911.4(GPR139):c.772C>A (p.Gln258Lys)	GPR139 (Q165K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383370	NM_001002911.4(GPR139):c.691T>C (p.Phe231Leu)	GPR139 (F138L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101433	NM_001002911.4(GPR139):c.676A>T (p.Thr226Ser)	GPR139 (T133S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101432	NM_001002911.4(GPR139):c.674A>G (p.Lys225Arg)	GPR139 (K132R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334416	NM_001002911.4(GPR139):c.613A>G (p.Ile205Val)	GPR139 (I112V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282208	NM_001002911.4(GPR139):c.580G>A (p.Val194Met)	GPR139 (V101M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101431	NM_001002911.4(GPR139):c.520T>A (p.Tyr174Asn)	GPR139 (Y81N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331711	NM_001002911.4(GPR139):c.467G>T (p.Cys156Phe)	GPR139 (C156F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403035	NM_001002911.4(GPR139):c.446T>C (p.Ile149Thr)	GPR139 (I149T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294278	NM_001002911.4(GPR139):c.424C>A (p.Pro142Thr)	GPR139 (P142T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378938	NM_001002911.4(GPR139):c.413C>T (p.Thr138Met)	GPR139 (T138M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545038	NM_001002911.4(GPR139):c.362C>T (p.Pro121Leu)	GPR139 (P28L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282206	NM_001002911.4(GPR139):c.301G>A (p.Asp101Asn)	GPR139 (D8N +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2334596	NM_001002911.4(GPR139):c.242T>G (p.Val81Gly)	GPR139 (V81G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325452	NM_001002911.4(GPR139):c.235T>C (p.Phe79Leu)	GPR139 (F79L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477764	NM_001002911.4(GPR139):c.101G>T (p.Ser34Ile)	GPR139 (S34I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401733	NM_001002911.4(GPR139):c.85C>T (p.Pro29Ser)	GPR139 (P29S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282210	NM_001002911.4(GPR139):c.41T>G (p.Leu14Arg)	GPR139 (L14R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1807793	GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3	ABAT, ABCC1 +226 more	Copy number gain	not provided	GPathogenic
Select item 983281	GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3	ABAT, ABCC1 +252 more	Copy number gain	See cases	GPathogenic
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	GPathogenic
Select item 443422	GRCh37/hg19 16p12.3-11.2(chr16:18238275-30177240)x3	ACSM1, ACSM2A +128 more	Copy number gain	See cases	GPathogenic
Select item 443183	GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3	ABAT, ABCA3 +295 more	Copy number gain	See cases	GPathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 395601	GRCh37/hg19 16p12.3-11.2(chr16:19424115-30142220)x3	ACSM1, ACSM2A +119 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 375693	maternal UPD(16p)	ALG1, BICDL2 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 221513	GRCh37/hg19 16p12.3-11.2(chr16:19590412-29814175)x3	ACSM1, ACSM2A +95 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 219021	GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3	ABAT, ABCA3 +330 more	Copy number gain	See cases	GPathogenic

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Items: 38