PHF12[gene] - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154383	GRCh38/hg38 17q11.2(chr17:28757283-29216419)x3	DHRS13, ERAL1 +39 more	Copy number gain	See cases	GUncertain significance
Select item 3346884	NM_001033561.2(PHF12):c.2977C>T (p.His993Tyr)	PHF12 (H993Y)	Single nucleotide variant (missense variant +1 more)	PHF12-related disorder	GUncertain significance
Select item 2229303	NM_001033561.2(PHF12):c.2940G>C (p.Gln980His)	PHF12 (Q980H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2633248	NM_001033561.2(PHF12):c.2704G>A (p.Asp902Asn)	PHF12 (D902N)	Single nucleotide variant (missense variant +1 more)	PHF12-related disorder	GUncertain significance
Select item 1343180	NM_001033561.2(PHF12):c.2660C>G (p.Ala887Gly)	PHF12 (A887G)	Single nucleotide variant (missense variant +1 more)	Developmental disorder	GLikely benign
Select item 2647605	NM_001033561.2(PHF12):c.2589G>A (p.Thr863=)	PHF12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3046281	NM_001033561.2(PHF12):c.2359+107C>T	PHF12	Single nucleotide variant (synonymous variant +1 more)	PHF12-related disorder	GBenign
Select item 3349556	NM_001033561.2(PHF12):c.2317G>A (p.Val773Ile)	PHF12 (V773I)	Single nucleotide variant (missense variant)	PHF12-related disorder	GUncertain significance
Select item 2343042	NM_001033561.2(PHF12):c.2297T>C (p.Val766Ala)	PHF12 (V766A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210571	NM_001033561.2(PHF12):c.2084C>T (p.Ser695Leu)	PHF12 (S695L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597169	NM_001033561.2(PHF12):c.2033A>G (p.Asp678Gly)	PHF12 (D678G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593588	NM_001033561.2(PHF12):c.2003G>A (p.Arg668Gln)	PHF12 (R668Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306116	NM_001033561.2(PHF12):c.1993A>G (p.Asn665Asp)	PHF12 (N665D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790330	NM_001033561.2(PHF12):c.1959G>A (p.Pro653=)	PHF12	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3306115	NM_001033561.2(PHF12):c.1958C>T (p.Pro653Leu)	PHF12 (P653L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212075	NM_001033561.2(PHF12):c.1958C>G (p.Pro653Arg)	PHF12 (P653R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258416	NM_001033561.2(PHF12):c.1876C>A (p.Pro626Thr)	PHF12 (P626T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212074	NM_001033561.2(PHF12):c.1829C>T (p.Pro610Leu)	PHF12 (P610L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517879	NM_001033561.2(PHF12):c.1792G>A (p.Val598Ile)	PHF12 (V598I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212073	NM_001033561.2(PHF12):c.1780C>G (p.Gln594Glu)	PHF12 (Q594E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212072	NM_001033561.2(PHF12):c.1688G>A (p.Arg563Gln)	PHF12 (R563Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212071	NM_001033561.2(PHF12):c.1687C>T (p.Arg563Trp)	PHF12 (R563W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397134	NM_001033561.2(PHF12):c.1658A>G (p.Tyr553Cys)	PHF12 (Y553C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299142	NM_001033561.2(PHF12):c.1610C>T (p.Ala537Val)	PHF12 (A537V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607953	NM_001033561.2(PHF12):c.1534C>A (p.His512Asn)	PHF12 (H512N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466221	NM_001033561.2(PHF12):c.1521C>G (p.Ser507Arg)	PHF12 (S507R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212070	NM_001033561.2(PHF12):c.1430C>T (p.Thr477Ile)	PHF12 (T477I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390950	NM_001033561.2(PHF12):c.1331T>C (p.Leu444Ser)	PHF12 (L444S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475159	NM_001033561.2(PHF12):c.1324A>G (p.Ser442Gly)	PHF12 (S442G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518107	NM_001033561.2(PHF12):c.1192G>T (p.Ala398Ser)	PHF12 (A398S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212069	NM_001033561.2(PHF12):c.1181T>C (p.Ile394Thr)	PHF12 (I394T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538054	NM_001033561.2(PHF12):c.1112C>T (p.Ser371Leu)	PHF12 (S371L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239026	NM_001033561.2(PHF12):c.1097G>A (p.Arg366Gln)	PHF12 (R366Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212068	NM_001033561.2(PHF12):c.1069C>G (p.Arg357Gly)	PHF12 (R357G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212077	NM_001033561.2(PHF12):c.970C>A (p.Leu324Met)	PHF12 (L324M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212076	NM_001033561.2(PHF12):c.955A>G (p.Ile319Val)	PHF12 (I319V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616292	NM_001033561.2(PHF12):c.658C>T (p.Arg220Trp)	PHF12 (R220W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344932	NM_001033561.2(PHF12):c.586G>A (p.Ala196Thr)	PHF12 (A196T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3031089	NM_001033561.2(PHF12):c.583G>A (p.Val195Ile)	PHF12 (V195I)	Single nucleotide variant (missense variant)	PHF12-related disorder	GUncertain significance
Select item 2212322	NM_001033561.2(PHF12):c.567C>A (p.Asp189Glu)	PHF12 (D189E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3356980	NM_001033561.2(PHF12):c.558CAT[1] (p.Ile188del)	PHF12 (I188del)	Microsatellite (inframe_deletion)	PHF12-related disorder	GUncertain significance
Select item 1684999	NM_001033561.2(PHF12):c.512C>T (p.Ala171Val)	PHF12 (A171V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532001	NM_001033561.2(PHF12):c.489G>T (p.Arg163Ser)	PHF12 (R163S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372950	NM_001033561.2(PHF12):c.371A>G (p.Lys124Arg)	PHF12 (K124R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341605	NM_001033561.2(PHF12):c.317G>A (p.Arg106Gln)	LOC101927018, PHF12 (R106Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 154960	GRCh38/hg38 17q11.2(chr17:28947825-32490020)x1	ABHD15, ADAP2 +202 more	Copy number loss	See cases	GPathogenic
Select item 2313848	NM_001033561.2(PHF12):c.139C>T (p.Pro47Ser)	PHF12 (P47S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1685000	NM_001033561.2(PHF12):c.92C>A (p.Pro31His)	PHF12 (P31H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306117	NM_001033561.2(PHF12):c.29T>C (p.Ile10Thr)	PHF12 (I10T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580348	GRCh37/hg19 17q11.1-11.2(chr17:25263507-27829791)x3	FAM222B, FLOT2 +41 more	Copy number gain	Developmental delay with or without intellectual impairment or behavioral abnormalities	GUncertain significance
Select item 2427184	NC_000017.10:g.(?_26684694)_(29701173_?)dup	ABHD15, ADAP2 +54 more	Duplication	not provided	GUncertain significance
Select item 2425303	NC_000017.10:g.(?_26684694)_(27581367_?)dup	ALDOC, BLTP2 +29 more	Duplication	not provided	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 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

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Items: 59