ClinVar for Gene (Select 9678) - ClinVar

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Links from Gene

Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3306126	NM_001007157.2(PHF14):c.1886G>A (p.Arg629His)	PHF14 (R629H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3306125	NM_001007157.2(PHF14):c.440C>T (p.Ser147Phe)	PHF14 (S147F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306124	NM_001007157.2(PHF14):c.788C>T (p.Ala263Val)	PHF14 (A263V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306123	NM_001007157.2(PHF14):c.2591C>T (p.Ala864Val)	PHF14 (A864V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3306122	NM_001007157.2(PHF14):c.1525A>G (p.Lys509Glu)	PHF14 (K509E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212093	NM_001007157.2(PHF14):c.940C>A (p.Gln314Lys)	PHF14 (Q314K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212092	NM_001007157.2(PHF14):c.773A>C (p.Asp258Ala)	PHF14 (D258A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212091	NM_001007157.2(PHF14):c.771A>T (p.Glu257Asp)	PHF14 (E257D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212090	NM_001007157.2(PHF14):c.764A>T (p.Asn255Ile)	PHF14 (N255I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212089	NM_001007157.2(PHF14):c.703G>C (p.Asp235His)	PHF14 (D235H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212088	NM_001007157.2(PHF14):c.569C>G (p.Pro190Arg)	PHF14 (P190R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212087	NM_001007157.2(PHF14):c.359A>G (p.Glu120Gly)	PHF14 (E120G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212086	NM_001007157.2(PHF14):c.2642A>C (p.Glu881Ala)	PHF14 (E881A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212085	NM_001007157.2(PHF14):c.1325G>C (p.Ser442Thr)	PHF14 (S442T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212084	NM_001007157.2(PHF14):c.1141G>A (p.Val381Ile)	PHF14 (V381I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212083	NM_001007157.2(PHF14):c.1102T>A (p.Ser368Thr)	PHF14 (S368T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212082	NM_001007157.2(PHF14):c.1041T>A (p.His347Gln)	PHF14 (H347Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2684481	GRCh37/hg19 7p21.3(chr7:11017837-11580072)x3	PHF14, THSD7A	Copy number gain	not provided	GUncertain significance
Select item 2681484	NM_001007157.2(PHF14):c.1669C>T (p.Gln557Ter)	PHF14 (Q557*)	Single nucleotide variant (nonsense +1 more)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2672225	NM_001007157.2(PHF14):c.1195G>C (p.Asp399His)	PHF14 (D399H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2657323	NM_001007157.2(PHF14):c.1419A>G (p.Gln473=)	PHF14	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2623481	NM_001007157.2(PHF14):c.1648C>G (p.Leu550Val)	PHF14 (L550V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622619	NM_001007157.2(PHF14):c.514G>A (p.Ala172Thr)	PHF14 (A172T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2600596	NM_001007157.2(PHF14):c.943A>C (p.Lys315Gln)	PHF14 (K315Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594048	NM_001007157.2(PHF14):c.443C>T (p.Ala148Val)	PHF14 (A148V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579040	GRCh37/hg19 7p21.3-21.2(chr7:10973263-14669896)x3	ARL4A, DGKB +7 more	Copy number gain	not provided	GUncertain significance
Select item 2495266	NM_001007157.2(PHF14):c.2086A>G (p.Ile696Val)	PHF14 (I696V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494548	NM_001007157.2(PHF14):c.2026C>G (p.Arg676Gly)	PHF14 (R676G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493099	NM_001007157.2(PHF14):c.134G>T (p.Gly45Val)	PHF14 (G45V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410389	NM_001007157.2(PHF14):c.511A>G (p.Thr171Ala)	PHF14 (T171A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384439	NM_001007157.2(PHF14):c.17A>G (p.Lys6Arg)	PHF14 (K6R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364971	NM_001007157.2(PHF14):c.2468C>T (p.Pro823Leu)	PHF14 (P823L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338170	NM_001007157.2(PHF14):c.161G>C (p.Gly54Ala)	PHF14 (G54A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327305	NM_001007157.2(PHF14):c.666A>C (p.Lys222Asn)	PHF14 (K222N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322099	NM_001007157.2(PHF14):c.1336G>T (p.Asp446Tyr)	PHF14 (D446Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317120	NM_001007157.2(PHF14):c.512C>T (p.Thr171Ile)	PHF14 (T171I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303657	NM_001007157.2(PHF14):c.476C>G (p.Ala159Gly)	PHF14 (A159G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281922	NM_001007157.2(PHF14):c.1295A>G (p.Asn432Ser)	PHF14 (N432S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249344	NM_001007157.2(PHF14):c.2524A>C (p.Lys842Gln)	PHF14 (K842Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204350	NM_001007157.2(PHF14):c.799G>T (p.Gly267Cys)	PHF14 (G267C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1708194	GRCh37/hg19 7p22.3-21.1(chr7:43360-19485604)x3	ACTB, ADAP1 +98 more	Copy number gain	See cases	GPathogenic
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527336	GRCh37/hg19 7p21.3-14.2(chr7:10745750-35305167)	ABCB5, ADCYAP1R1 +117 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527335	GRCh37/hg19 7p21.3-15.3(chr7:9358316-20982082)	ABCB5, AGMO +29 more	Copy number loss	not specified	GPathogenic
Select item 1341133	GRCh37/hg19 7p21.3-21.1(chr7:7909867-17213072)x1	AGMO, AGR2 +20 more	Copy number loss	not provided	GUncertain significance
Select item 1338842	GRCh38/hg38 7p21.3(chr7:10609869-11290301)	LOC100131472, LOC110120772 +11 more	Copy number gain	Diaphragmatic hernia	GUncertain significance
Select item 1320278	GRCh37/hg19 7p21.3-21.2(chr7:8980970-14085991)x3	ARL4A, ETV1 +6 more	Copy number gain	7p21.3p21.2 microduplication	GLikely pathogenic
Select item 1251926	NM_001007157.2(PHF14):c.964T>G (p.Cys322Gly)	PHF14 (C322G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 980254	GRCh37/hg19 7p21.3(chr7:10712710-11500366)x3	THSD7A, PHF14 +1 more	Copy number gain	not provided	GUncertain significance
Select item 980250	GRCh37/hg19 7p21.3(chr7:10528678-11457492)x3	THSD7A, PHF14 +1 more	Copy number gain	not provided	GLikely benign
Select item 814932	GRCh37/hg19 7p21.3(chr7:10116563-11737690)x3	THSD7A, NDUFA4 +1 more	Copy number gain	not provided	GUncertain significance
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 687401	GRCh37/hg19 7p22.3-21.1(chr7:43376-19520619)x3	ACTB, ADAP1 +98 more	Copy number gain	not provided	GPathogenic
Select item 563374	GRCh37/hg19 7p21.3(chr7:10866366-11568530)x3	PHF14, THSD7A +1 more	Copy number gain	not provided	GLikely benign
Select item 443071	GRCh37/hg19 7p22.3-21.3(chr7:43360-12098696)x3	ACTB, ADAP1 +76 more	Copy number gain	See cases	GPathogenic
Select item 442857	GRCh37/hg19 7p21.3-21.1(chr7:7660104-18400293)x3	AGMO, AGR2 +25 more	Copy number gain	See cases	GUncertain significance
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 442824	GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3	ABCB5, ACTB +158 more	Copy number gain	See cases	GPathogenic
Select item 442624	GRCh37/hg19 7p22.3-15.3(chr7:43360-23674928)x3	ABCB5, ACTB +121 more	Copy number gain	See cases	GPathogenic
Select item 442550	GRCh37/hg19 7p21.3(chr7:10635991-11383182)x3	NDUFA4, PHF14	Copy number gain	See cases	GUncertain significance
Select item 442503	GRCh37/hg19 7p22.3-21.3(chr7:43360-11567351)x3	DAGLB, DNAAF5 +76 more	Copy number gain	See cases	GPathogenic
Select item 442338	GRCh37/hg19 7p21.3(chr7:9645570-12393614)x3	NDUFA4, PHF14 +3 more	Copy number gain	See cases	GUncertain significance
Select item 442159	GRCh37/hg19 7p22.3-21.2(chr7:43360-14664158)x3	ACTB, ADAP1 +82 more	Copy number gain	See cases	GPathogenic
Select item 441604	GRCh37/hg19 7p21.3(chr7:10275242-11803023)x4	NDUFA4, PHF14 +1 more	Copy number gain	See cases	GLikely benign
Select item 441541	GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3	RP9, SCIN +196 more	Copy number gain	See cases	GPathogenic
Select item 393941	GRCh37/hg19 7p22.3-21.3(chr7:183556-12746636)x3	TNRC18, TTYH3 +80 more	Copy number gain	See cases	GPathogenic
Select item 161064	GRCh38/hg38 7p21.3(chr7:10610069-11290160)x3	LOC100131472, LOC110120772 +11 more	Copy number gain	See cases	GUncertain significance
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	LOC129998085, LOC129998086 +904 more	Copy number gain	See cases	GPathogenic
Select item 154993	GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	ABCB5, ACTB +769 more	Copy number gain	See cases	GPathogenic
Select item 154641	GRCh38/hg38 7p21.3-15.2(chr7:10610069-25760560)x1	LOC129998072, LOC129998073 +331 more	Copy number loss	See cases	GPathogenic
Select item 154585	GRCh38/hg38 7p21.3-21.2(chr7:11122492-16479303)x1	AGMO, ARL4A +62 more	Copy number loss	See cases	GPathogenic
Select item 150177	GRCh38/hg38 7p21.3(chr7:11055430-11162069)x3	LOC129389746, PHF14	Copy number gain	See cases	GLikely benign
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	RAC1, RADIL +823 more	Copy number gain	See cases	GPathogenic
Select item 148289	GRCh38/hg38 7p21.3(chr7:10835790-11523056)x3	LOC113687186, LOC129389746 +7 more	Copy number gain	See cases	GLikely benign
Select item 147466	GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3	ABCB5, AGMO +560 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	HYCC1, ICA1 +879 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	See cases	GPathogenic
Select item 59567	GRCh38/hg38 7p21.3(chr7:10691723-11375132)x3	LOC100131472, LOC113687186 +9 more	Copy number gain	See cases	GUncertain significance
Select item 59566	GRCh38/hg38 7p21.3(chr7:10106458-11714808)x4	LOC100131472, LOC110120772 +15 more	Copy number gain	See cases	GUncertain significance
Select item 58518	GRCh38/hg38 7p21.3-21.1(chr7:9975653-19356878)x1	AGMO, AGR2 +130 more	Copy number loss	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic
Select item 57254	GRCh38/hg38 7p22.1-21.3(chr7:6106402-11012657)x1	C1GALT1, CCZ1B +131 more	Copy number loss	See cases	GPathogenic
Select item 33404	GRCh38/hg38 7p21.3(chr7:10610069-11290160)x3	LOC100131472, LOC110120772 +11 more	Copy number gain	See cases	GUncertain significance

ClinVar

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Links from Gene

Items: 86