ClinVar for Gene (Select 57157) - ClinVar

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Links from Gene

Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 3212477	NM_001395272.1(PHTF2):c.5C>T (p.Ala2Val)	PHTF2 (A2V)	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 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 3212473	NM_001395272.1(PHTF2):c.25A>G (p.Ile9Val)	PHTF2 (I9V)	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 2425793	NC_000007.13:g.(?_77530028)_(79082636_?)del	MAGI2, PHTF2	Deletion	not provided	GPathogenic
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 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 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 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 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 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 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 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 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 1342322	NC_000007.14:g.(75058300_?)_(?_79083658)del	APTR, CCDC146 +126 more	Deletion	Distal 7q11.23 microdeletion syndrome	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
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 154313	GRCh38/hg38 7q11.23-21.11(chr7:74377395-82031742)x1	APTR, CACNA2D1 +194 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 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	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 60244	GRCh38/hg38 7q11.23-21.11(chr7:73873420-83988860)x1	APTR, CACNA2D1 +249 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

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Links from Gene

Items: 62