PHTF1[gene] - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LINC01780, LINC02868 +563 more	Copy number gain	See cases	GPathogenic
Select item 58084	GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3	ADORA3, AHCYL1 +391 more	Copy number gain	See cases	GPathogenic
Select item 2490890	NM_001323043.2(PHTF1):c.2239A>G (p.Ile747Val)	PHTF1 (I705V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392233	NM_001323043.2(PHTF1):c.2197A>C (p.Asn733His)	PHTF1 (N733H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212457	NM_001323043.2(PHTF1):c.2186C>A (p.Pro729His)	PHTF1 (P443H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212456	NM_001323043.2(PHTF1):c.2111A>G (p.Asn704Ser)	PHTF1 (N418S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212455	NM_001323043.2(PHTF1):c.2083A>G (p.Lys695Glu)	PHTF1 (K653E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320005	NM_001323043.2(PHTF1):c.2077C>T (p.Pro693Ser)	PHTF1 (P693S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212454	NM_001323043.2(PHTF1):c.2021A>G (p.Asn674Ser)	PHTF1 (N632S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322323	NM_001323043.2(PHTF1):c.1978C>T (p.Arg660Cys)	PHTF1 (R618C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 523068	NM_001323043.2(PHTF1):c.1973dup (p.Leu658fs)	PHTF1 (L372fs +2 more)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 3306317	NM_001323043.2(PHTF1):c.1865C>G (p.Ser622Trp)	PHTF1 (S622W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508132	NM_001323043.2(PHTF1):c.1789C>T (p.Arg597Cys)	PHTF1 (R597C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258012	NM_001323043.2(PHTF1):c.1726A>G (p.Lys576Glu)	PHTF1 (K534E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212453	NM_001323043.2(PHTF1):c.1648G>A (p.Val550Met)	PHTF1 (V508M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316459	NM_001323043.2(PHTF1):c.1629G>T (p.Met543Ile)	PHTF1 (M257I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2639001	NM_001323043.2(PHTF1):c.1620T>G (p.Leu540=)	PHTF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3306315	NM_001323043.2(PHTF1):c.1589C>T (p.Ser530Leu)	PHTF1 (S488L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315838	NM_001323043.2(PHTF1):c.1573C>T (p.Pro525Ser)	PHTF1 (P525S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359643	NM_001323043.2(PHTF1):c.1558G>T (p.Ala520Ser)	PHTF1 (A234S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212452	NM_001323043.2(PHTF1):c.1553G>A (p.Cys518Tyr)	PHTF1 (C476Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289630	NM_001323043.2(PHTF1):c.1525T>G (p.Ser509Ala)	PHTF1 (S467A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297022	NM_001323043.2(PHTF1):c.1502G>T (p.Ser501Ile)	PHTF1 (S215I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253650	NM_001323043.2(PHTF1):c.1498A>G (p.Lys500Glu)	PHTF1 (K214E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364629	NM_001323043.2(PHTF1):c.1493G>A (p.Arg498His)	PHTF1 (R456H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351321	NM_001323043.2(PHTF1):c.1490T>C (p.Phe497Ser)	PHTF1 (F497S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307450	NM_001323043.2(PHTF1):c.1484G>A (p.Arg495Gln)	PHTF1 (R209Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236498	NM_001323043.2(PHTF1):c.1447G>A (p.Val483Ile)	PHTF1 (V441I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212451	NM_001323043.2(PHTF1):c.1443T>A (p.Asn481Lys)	PHTF1 (N481K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293663	NM_001323043.2(PHTF1):c.1280T>C (p.Phe427Ser)	PHTF1 (F141S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559597	NM_001323043.2(PHTF1):c.1153G>T (p.Asp385Tyr)	PHTF1 (D99Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212450	NM_001323043.2(PHTF1):c.1067G>A (p.Ser356Asn)	PHTF1 (S356N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462564	NM_001323043.2(PHTF1):c.994C>T (p.Arg332Trp)	PHTF1 (R290W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520486	NM_001323043.2(PHTF1):c.989T>C (p.Ile330Thr)	PHTF1 (I288T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262260	NM_001323043.2(PHTF1):c.970A>G (p.Thr324Ala)	PHTF1 (T282A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388676	NM_001323043.2(PHTF1):c.897T>G (p.Ser299Arg)	PHTF1 (S13R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212466	NM_001323043.2(PHTF1):c.851G>C (p.Arg284Pro)	PHTF1 (R242P +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2589381	NM_001323043.2(PHTF1):c.797G>A (p.Arg266His)	PHTF1 (R224H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3212465	NM_001323043.2(PHTF1):c.765T>A (p.Asp255Glu)	PHTF1 (D213E +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3212464	NM_001323043.2(PHTF1):c.695T>A (p.Ile232Asn)	PHTF1 (I190N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3212463	NM_001323043.2(PHTF1):c.655G>A (p.Gly219Arg)	PHTF1 (G177R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3212462	NM_001323043.2(PHTF1):c.607A>T (p.Thr203Ser)	PHTF1 (T203S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3212461	NM_001323043.2(PHTF1):c.606G>T (p.Glu202Asp)	PHTF1 (E160D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2335746	NM_001323043.2(PHTF1):c.592G>C (p.Gly198Arg)	PHTF1 (G156R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3306318	NM_001323043.2(PHTF1):c.572T>C (p.Leu191Ser)	PHTF1 (L149S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2364552	NM_001323043.2(PHTF1):c.568A>G (p.Thr190Ala)	PHTF1 (T148A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3306316	NM_001323043.2(PHTF1):c.563T>C (p.Ile188Thr)	PHTF1 (I188T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2509908	NM_001323043.2(PHTF1):c.374T>G (p.Ile125Arg)	PHTF1 (I83R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3212459	NM_001323043.2(PHTF1):c.373A>C (p.Ile125Leu)	PHTF1 (I125L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3212458	NM_001323043.2(PHTF1):c.304T>G (p.Trp102Gly)	PHTF1 (W60G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2480024	NM_001323043.2(PHTF1):c.257T>G (p.Leu86Trp)	PHTF1 (L86W +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3306314	NM_001323043.2(PHTF1):c.247T>C (p.Phe83Leu)	PHTF1 (F41L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2285585	NM_001323043.2(PHTF1):c.224G>A (p.Arg75Gln)	PHTF1 (R33Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2392517	NM_001323043.2(PHTF1):c.185C>T (p.Ala62Val)	PHTF1 (A20V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2589026	NM_001323043.2(PHTF1):c.134A>T (p.His45Leu)	PHTF1 (H45L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2295699	NM_001323043.2(PHTF1):c.22G>A (p.Ala8Thr)	PHTF1 (A8T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2307782	NM_001323043.2(PHTF1):c.13G>A (p.Glu5Lys)	PHTF1 (E5K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2685819	GRCh37/hg19 1p13.2(chr1:114121742-114665485)x3	BCL2L15, DCLRE1B +8 more	Copy number gain	not provided	GUncertain significance
Select item 2685577	GRCh37/hg19 1p13.3-13.1(chr1:110066946-116672408)x1	ADORA3, AHCYL1 +77 more	Copy number loss	not provided	GPathogenic
Select item 2425617	NC_000001.10:g.(?_112318699)_(115576848_?)del	AMPD1, AP4B1 +28 more	Deletion	Hereditary spastic paraplegia 47	GPathogenic
Select item 2424614	NC_000001.10:g.(?_111145905)_(114454813_?)del	ADORA3, AP4B1 +34 more	Deletion	not provided	GPathogenic
Select item 2424476	NC_000001.10:g.(?_113456513)_(116311162_?)dup	AMPD1, AP4B1 +23 more	Duplication	RASopathy	GUncertain significance
Select item 1527270	GRCh37/hg19 1p13.3-11.2(chr1:111647582-121343783)	NHLH2, NOTCH2 +78 more	Copy number gain	not specified	GPathogenic
Select item 1527171	GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931)	ADORA3, AGL +124 more	Copy number loss	not specified	GPathogenic
Select item 1047871	GRCh37/hg19 1p21.2-12(chr1:102021465-119737478)	ATP1A1, RAP1A +131 more	Copy number loss	Seizure +1 more	GPathogenic
Select item 814118	GRCh37/hg19 1p13.2-13.1(chr1:114024461-116189135)x1	VANGL1, TSHB +20 more	Copy number loss	not provided	GLikely pathogenic
Select item 443336	GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3	ABCA4, ABCD3 +177 more	Copy number gain	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 441879	GRCh37/hg19 1p13.2(chr1:114011163-114803749)x3	AP4B1, BCL2L15 +8 more	Copy number gain	See cases	GUncertain significance

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Items: 70