PHF1[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 660703	NC_000006.11:g.(?_33131435)_(33419703_?)dup	B3GALT4, COL11A2 +26 more	Duplication	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 2221860	NM_024165.3(PHF1):c.25C>G (p.Arg9Gly)	PHF1 (R9G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267430	NM_024165.3(PHF1):c.91C>T (p.Leu31Phe)	PHF1 (L31F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212056	NM_024165.3(PHF1):c.292G>A (p.Val98Met)	PHF1 (V98M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362555	NM_024165.3(PHF1):c.307C>T (p.Arg103Trp)	PHF1 (R103W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3306108	NM_024165.3(PHF1):c.331C>T (p.Arg111Cys)	PHF1 (R111C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360905	NM_024165.3(PHF1):c.332G>A (p.Arg111His)	PHF1 (R111H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2572249	NM_024165.3(PHF1):c.562T>C (p.Tyr188His)	PHF1 (Y188H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2401956	NM_024165.3(PHF1):c.613C>T (p.Arg205Trp)	PHF1 (R205W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600535	NM_024165.3(PHF1):c.715G>A (p.Gly239Arg)	PHF1 (G239R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461936	NM_024165.3(PHF1):c.842C>T (p.Thr281Ile)	PHF1 (T281I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3306103	NM_024165.3(PHF1):c.871G>A (p.Gly291Arg)	PHF1 (G291R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300971	NM_024165.3(PHF1):c.1013C>T (p.Pro338Leu)	PHF1 (P338L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472164	NM_024165.3(PHF1):c.1087C>T (p.Arg363Cys)	PHF1 (R363C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212055	NM_024165.3(PHF1):c.1112C>T (p.Pro371Leu)	PHF1 (P371L)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 2398461	NM_024165.3(PHF1):c.1172C>T (p.Ser391Leu)	PHF1 (S391L)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 2508790	NM_024165.3(PHF1):c.1180C>T (p.Arg394Cys)	PHF1 (R394C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3306105	NM_024165.3(PHF1):c.1184A>G (p.Asn395Ser)	PHF1 (N395S)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 2466035	NM_024165.3(PHF1):c.1192G>A (p.Glu398Lys)	PHF1 (R394Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402246	NM_024165.3(PHF1):c.1255C>A (p.Pro419Thr)	PHF1 (P419T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3306104	NM_024165.3(PHF1):c.1307G>A (p.Arg436Gln)	PHF1 (R436Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 152279	GRCh38/hg38 6p21.32(chr6:33415354-33432929)x3	CUTA, PHF1 +1 more	Copy number gain	See cases	GUncertain significance
Select item 2542859	NM_024165.3(PHF1):c.1476G>A (p.Ser492=)	PHF1 (R457Q)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3306107	NM_024165.3(PHF1):c.1502C>T (p.Ser501Leu)	PHF1 (S501L)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3306102	NM_024165.3(PHF1):c.1528C>T (p.Arg510Cys)	PHF1 (R510C)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2263696	NM_024165.3(PHF1):c.1555C>G (p.Arg519Gly)	PHF1 (R519G)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3246013	NC_000006.11:g.(?_33131455)_(33388128_?)dup	B3GALT4, COL11A2 +17 more	Duplication	MHC class I deficiency	GUncertain significance
Select item 2445505	NC_000006.11:g.(?_32148920)_(36953949_?)dup	ARMC12, BRPF3 +94 more	Duplication	not provided	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	ABHD16A, AGER +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 1527234	GRCh37/hg19 6p21.32-21.31(chr6:33069892-33751391)	B3GALT4, BAK1 +23 more	Copy number gain	not specified	GUncertain significance
Select item 832257	NC_000006.12:g.(?_33391986)_(33672228_?)dup	BAK1, CUTA +5 more	Duplication	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 831717	NC_000006.12:g.(?_33173681)_(33451926_?)dup	B3GALT4, COL11A2 +17 more	Duplication	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 814807	GRCh37/hg19 6p21.33-21.31(chr6:31036397-34088832)x3	ABHD16A, AGER +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 221456	GRCh37/hg19 6p21.32(chr6:33256191-33400523)x3	KIFC1, CUTA +8 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 38