PHTF2[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 60237	GRCh38/hg38 7q11.22-11.23(chr7:69382353-77823832)x1	SPDYE12, SPDYE13 +330 more	Copy number loss	See cases	GPathogenic
Select item 57096	GRCh38/hg38 7q11.22-21.11(chr7:71225344-81735657)x1	ABHD11, ABHD11-AS1 +317 more	Copy number loss	See cases	GPathogenic
Select item 155387	GRCh38/hg38 7q11.22-21.11(chr7:72179092-79164071)	ABHD11, ABHD11-AS1 +285 more	Copy number gain	See cases	GLikely pathogenic
Select item 60244	GRCh38/hg38 7q11.23-21.11(chr7:73873420-83988860)x1	APTR, CACNA2D1 +249 more	Copy number loss	See cases	GPathogenic
Select item 154313	GRCh38/hg38 7q11.23-21.11(chr7:74377395-82031742)x1	APTR, CACNA2D1 +194 more	Copy number loss	See cases	GPathogenic
Select item 1342322	NC_000007.14:g.(75058300_?)_(?_79083658)del	APTR, CCDC146 +126 more	Deletion	Distal 7q11.23 microdeletion syndrome	GPathogenic
Select item 60279	GRCh38/hg38 7q11.23-21.11(chr7:75496701-78375575)x1	APTR, CCDC146 +109 more	Copy number loss	See cases	GPathogenic
Select item 148376	GRCh38/hg38 7q11.23-21.11(chr7:76440557-78180243)x3	APTR, CCDC146 +45 more	Copy number gain	See cases	GUncertain significance
Select item 3212477	NM_001395272.1(PHTF2):c.5C>T (p.Ala2Val)	PHTF2 (A2V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212473	NM_001395272.1(PHTF2):c.25A>G (p.Ile9Val)	PHTF2 (I9V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2567714	NM_001395272.1(PHTF2):c.69A>G (p.Ile23Met)	PHTF2 (I57M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212474	NM_001395272.1(PHTF2):c.277C>T (p.Arg93Trp)	PHTF2 (R89W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495669	NM_001395272.1(PHTF2):c.289C>G (p.Gln97Glu)	PHTF2 (Q131E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226990	NM_001395272.1(PHTF2):c.358T>G (p.Leu120Val)	PHTF2 (L120V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241204	NM_001395272.1(PHTF2):c.481C>T (p.Pro161Ser)	PHTF2 (P157S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483097	NM_001395272.1(PHTF2):c.523G>A (p.Ala175Thr)	PHTF2 (A171T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212476	NM_001395272.1(PHTF2):c.580C>A (p.Gln194Lys)	PHTF2 (Q190K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212478	NM_001395272.1(PHTF2):c.625G>A (p.Val209Ile)	PHTF2 (V243I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212479	NM_001395272.1(PHTF2):c.637T>G (p.Phe213Val)	PHTF2 (F209V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212480	NM_001395272.1(PHTF2):c.739G>A (p.Asp247Asn)	PHTF2 (D243N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382572	NM_001395272.1(PHTF2):c.763G>A (p.Gly255Ser)	PHTF2 (G255S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2390817	NM_001395272.1(PHTF2):c.809G>A (p.Arg270Gln)	PHTF2 (R266Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3212482	NM_001395272.1(PHTF2):c.944A>G (p.His315Arg)	PHTF2 (H311R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620795	NM_001395272.1(PHTF2):c.959C>G (p.Ser320Cys)	PHTF2 (S316C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212483	NM_001395272.1(PHTF2):c.970C>T (p.Leu324Phe)	PHTF2 (L324F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304228	NM_001395272.1(PHTF2):c.992A>G (p.His331Arg)	PHTF2 (H327R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536900	NM_001395272.1(PHTF2):c.1004A>G (p.His335Arg)	PHTF2 (H331R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391870	NM_001395272.1(PHTF2):c.1046G>C (p.Ser349Thr)	PHTF2 (S383T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212467	NM_001395272.1(PHTF2):c.1061G>A (p.Ser354Asn)	PHTF2 (S350N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602132	NM_001395272.1(PHTF2):c.1064C>G (p.Ser355Cys)	PHTF2 (S351C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212468	NM_001395272.1(PHTF2):c.1162A>G (p.Ser388Gly)	PHTF2 (S384G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212469	NM_001395272.1(PHTF2):c.1199G>C (p.Cys400Ser)	PHTF2 (C434S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239233	NM_001395272.1(PHTF2):c.1295T>C (p.Val432Ala)	PHTF2 (V355A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212470	NM_001395272.1(PHTF2):c.1370A>G (p.Asn457Ser)	PHTF2 (N457S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622694	NM_001395272.1(PHTF2):c.1400T>A (p.Ile467Asn)	PHTF2 (I463N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618797	NM_001395272.1(PHTF2):c.1481T>C (p.Leu494Pro)	PHTF2 (L494P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556730	NM_001395272.1(PHTF2):c.1576C>T (p.Arg526Cys)	PHTF2 (R483C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457335	NM_001395272.1(PHTF2):c.1700A>T (p.Glu567Val)	PHTF2 (E567V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323385	NM_001395272.1(PHTF2):c.1872C>G (p.His624Gln)	PHTF2 (H547Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490891	NM_001395272.1(PHTF2):c.1888T>A (p.Cys630Ser)	PHTF2 (C553S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212471	NM_001395272.1(PHTF2):c.2068C>A (p.Leu690Ile)	PHTF2 (L647I +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212472	NM_001395272.1(PHTF2):c.2153C>T (p.Pro718Leu)	PHTF2 (P662L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425793	NC_000007.13:g.(?_77530028)_(79082636_?)del	MAGI2, PHTF2	Deletion	not provided	GPathogenic
Select item 1808008	GRCh37/hg19 7q21.11(chr7:77522246-78020157)x3	MAGI2, PHTF2	Copy number gain	not provided	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 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527368	GRCh37/hg19 7q21.11(chr7:77522245-78019211)	MAGI2, PHTF2	Copy number gain	not specified	GUncertain significance
Select item 1527367	GRCh37/hg19 7q11.23-21.11(chr7:77310644-84461089)	CACNA2D1, CD36 +11 more	Copy number loss	not specified	GPathogenic
Select item 1340875	GRCh37/hg19 7q21.11(chr7:77522245-78019211)x3	MAGI2, PHTF2	Copy number gain	not provided	GUncertain significance
Select item 814997	GRCh37/hg19 7q21.11(chr7:77500570-78015620)x3	PHTF2, MAGI2	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 687344	GRCh37/hg19 7q11.23-21.11(chr7:77119381-77726101)x3	MAGI2, PHTF2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 563289	GRCh37/hg19 7q11.23(chr7:77366523-77451161)x1	PHTF2, RSBN1L +1 more	Copy number loss	not provided	GUncertain significance
Select item 560131	Single allele	CD36, GNAI1 +7 more	Deletion	not provided	GUncertain significance
Select item 560111	Single allele	CACNA2D1, ERVW-1 +91 more	Deletion	not provided	GUncertain significance
Select item 443713	GRCh37/hg19 7q11.23-21.11(chr7:77303478-77529426)x1	PHTF2, RSBN1L +1 more	Copy number loss	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 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 394943	GRCh37/hg19 7q21.11(chr7:77543097-77998656)x3	MAGI2, PHTF2	Copy number gain	See cases	GLikely benign
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 62