5778[Gene ID] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 144143	GRCh38/hg38 1q32.1(chr1:200144603-203112078)x1	LOC120893174, LOC122149340 +166 more	Copy number loss	See cases	GPathogenic
Select item 2345712	NM_002832.4(PTPN7):c.944G>A (p.Gly315Glu)	PTPN7 (G314E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508468	NM_002832.4(PTPN7):c.914G>A (p.Arg305Gln)	PTPN7 (R305Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406391	NM_002832.4(PTPN7):c.861C>G (p.Ile287Met)	PTPN7 (I361M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463947	NM_002832.4(PTPN7):c.806G>A (p.Arg269His)	PTPN7 (R268H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375118	NM_002832.4(PTPN7):c.805C>T (p.Arg269Cys)	PTPN7 (R308C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3311475	NM_002832.4(PTPN7):c.710C>A (p.Thr237Asn)	PTPN7 (T276N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343361	NM_002832.4(PTPN7):c.701G>A (p.Arg234Gln)	PTPN7 (R273Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384761	NM_002832.4(PTPN7):c.662G>A (p.Arg221His)	PTPN7 (R220H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399677	NM_002832.4(PTPN7):c.647G>A (p.Gly216Glu)	PTPN7 (G215E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149255	NM_002832.4(PTPN7):c.614T>G (p.Val205Gly)	PTPN7 (V204G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358678	NM_002832.4(PTPN7):c.593G>A (p.Arg198Gln)	PTPN7 (R198Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348462	NM_002832.4(PTPN7):c.530C>T (p.Ser177Leu)	PTPN7 (S177L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293610	NM_002832.4(PTPN7):c.449T>A (p.Ile150Asn)	PTPN7 (I150N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537638	NM_002832.4(PTPN7):c.404G>A (p.Arg135His)	PTPN7 (R135H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149253	NM_002832.4(PTPN7):c.358G>A (p.Ala120Thr)	PTPN7 (A119T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149252	NM_002832.4(PTPN7):c.255G>T (p.Trp85Cys)	PTPN7 (W159C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513483	NM_002832.4(PTPN7):c.172G>A (p.Val58Ile)	PTPN7 (V58I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311469	NM_002832.4(PTPN7):c.153C>G (p.Asp51Glu)	PTPN7 (D125E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543595	NM_002832.4(PTPN7):c.55G>A (p.Gly19Arg)	LOC129932238, PTPN7 (G19R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3311472	NM_002832.4(PTPN7):c.38C>T (p.Pro13Leu)	PTPN7 (P52L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3149250	NM_002832.4(PTPN7):c.19G>T (p.Gly7Trp)	PTPN7 (G46W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621906	NM_002832.4(PTPN7):c.-7C>A	PTPN7 (H37Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2568422	NM_002832.4(PTPN7):c.-21G>A	PTPN7 (G68S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2384415	NM_002832.4(PTPN7):c.-104A>G	PTPN7	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3149249	NM_002832.4(PTPN7):c.-107C>A	PTPN7	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3311473	NM_002832.3(PTPN7):c.196C>T (p.Pro66Ser)	PTPN7 (P66S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3311474	NM_002832.3(PTPN7):c.179C>T (p.Ser60Phe)	PTPN7 (S60F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2594260	NM_002832.3(PTPN7):c.137C>T (p.Ala46Val)	PTPN7 (A46V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2208585	NM_002832.3(PTPN7):c.115G>A (p.Gly39Ser)	PTPN7 (G39S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3311470	NM_002832.3(PTPN7):c.70C>T (p.Arg24Trp)	PTPN7 (R24W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3149251	NM_002832.3(PTPN7):c.38G>T (p.Gly13Val)	PTPN7 (G13V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	RPS6KC1, SERTAD4 +185 more	Deletion	not provided	GPathogenic
Select item 3062955	GRCh37/hg19 1q32.1(chr1:199373229-204335027)x3	ADIPOR1, ADORA1 +58 more	Copy number gain	not specified	GLikely pathogenic
Select item 3062655	GRCh37/hg19 1q31.3-32.1(chr1:197216705-203683110)x1	ADIPOR1, ADORA1 +57 more	Copy number loss	not specified	GLikely pathogenic
Select item 2425293	NC_000001.10:g.(?_200522516)_(206945780_?)dup	ADIPOR1, ADORA1 +90 more	Duplication	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 2422293	NC_000001.10:g.(?_200522516)_(208391267_?)dup	ADIPOR1, ADORA1 +110 more	Duplication	not provided	GUncertain significance
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	ASPM, IPO9 +211 more	Copy number gain	not provided	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 972964	GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3	CD34, MDM4 +145 more	Copy number gain	not provided	Gnot provided
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	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 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	AVPR1B, B3GALNT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic

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Items: 47