5782[geneid] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +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 2321237	NM_002835.4(PTPN12):c.81C>G (p.Asn27Lys)	LOC129998713, PTPN12 (N27K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3059642	NM_002835.4(PTPN12):c.100-3A>T	PTPN12	Single nucleotide variant (intron variant)	PTPN12-related condition	GBenign
Select item 2232848	NM_002835.4(PTPN12):c.141A>G (p.Ile47Met)	PTPN12 (I47M)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 9448	NM_002835.4(PTPN12):c.182A>G (p.Lys61Arg)	PTPN12 (K61R)	Single nucleotide variant (5 prime UTR variant +1 more)	Carcinoma of colon	GPathogenic
Select item 2273382	NM_002835.4(PTPN12):c.253G>C (p.Asp85His)	PTPN12 (D85H)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3048805	NM_002835.4(PTPN12):c.288C>T (p.Gly96=)	PTPN12	Single nucleotide variant (5 prime UTR variant +2 more)	PTPN12-related condition	GLikely benign
Select item 2509146	NM_002835.4(PTPN12):c.289G>A (p.Val97Ile)	PTPN12 (V97I)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3051438	NM_002835.4(PTPN12):c.330A>G (p.Leu110=)	PTPN12	Single nucleotide variant (5 prime UTR variant +2 more)	PTPN12-related condition	GLikely benign
Select item 2240604	NM_002835.4(PTPN12):c.401G>A (p.Arg134Gln)	PTPN12 (R134Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3030245	NM_002835.4(PTPN12):c.420+7A>G	PTPN12	Single nucleotide variant (intron variant)	PTPN12-related condition	GLikely benign
Select item 3024795	NM_002835.4(PTPN12):c.553-4G>A	PTPN12	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2459424	NM_002835.4(PTPN12):c.560G>A (p.Arg187His)	PTPN12 (R68H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2657631	NM_002835.4(PTPN12):c.654A>G (p.Lys218=)	PTPN12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3054488	NM_002835.4(PTPN12):c.911A>G (p.His304Arg)	PTPN12 (H174R +2 more)	Single nucleotide variant (missense variant)	PTPN12-related condition	GLikely benign
Select item 2237518	NM_002835.4(PTPN12):c.926T>C (p.Ile309Thr)	PTPN12 (I179T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396730	NM_002835.4(PTPN12):c.935G>A (p.Gly312Glu)	PTPN12 (G182E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3060850	NM_002835.4(PTPN12):c.964G>A (p.Val322Ile)	PTPN12 (V192I +2 more)	Single nucleotide variant (missense variant)	PTPN12-related condition	GBenign
Select item 2461034	NM_002835.4(PTPN12):c.1084G>A (p.Val362Met)	PTPN12 (V243M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330062	NM_002835.4(PTPN12):c.1280A>T (p.Asp427Val)	PTPN12 (D427V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389607	NM_002835.4(PTPN12):c.1369A>C (p.Asn457His)	PTPN12 (N457H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550583	NM_002835.4(PTPN12):c.1454T>C (p.Leu485Pro)	PTPN12 (L355P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317505	NM_002835.4(PTPN12):c.1541C>T (p.Ser514Phe)	PTPN12 (S384F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222101	NM_002835.4(PTPN12):c.1573C>T (p.Arg525Cys)	PTPN12 (R525C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2472581	NM_002835.4(PTPN12):c.1604C>T (p.Thr535Met)	PTPN12 (T535M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528293	NM_002835.4(PTPN12):c.1637C>T (p.Pro546Leu)	PTPN12 (P416L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493103	NM_002835.4(PTPN12):c.1642C>G (p.Pro548Ala)	PTPN12 (P548A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339014	NM_002835.4(PTPN12):c.1667C>T (p.Ser556Leu)	PTPN12 (S426L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471020	NM_002835.4(PTPN12):c.1711A>G (p.Ser571Gly)	PTPN12 (S571G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1235641	NM_002835.4(PTPN12):c.1717A>G (p.Thr573Ala)	PTPN12 (T443A +2 more)	Single nucleotide variant (missense variant)	PTPN12-related condition +1 more	GBenign
Select item 2471561	NM_002835.4(PTPN12):c.1750C>T (p.His584Tyr)	PTPN12 (H454Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2657632	NM_002835.4(PTPN12):c.1809T>C (p.Ser603=)	PTPN12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2486629	NM_002835.4(PTPN12):c.1883G>A (p.Ser628Asn)	PTPN12 (S509N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478089	NM_002835.4(PTPN12):c.1957C>T (p.His653Tyr)	PTPN12 (H523Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3041486	NM_002835.4(PTPN12):c.1971A>G (p.Gly657=)	PTPN12	Single nucleotide variant (synonymous variant)	PTPN12-related condition	GBenign
Select item 2657633	NM_002835.4(PTPN12):c.2112T>C (p.Ser704=)	PTPN12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3056245	NM_002835.4(PTPN12):c.2116G>A (p.Glu706Lys)	PTPN12 (E576K +2 more)	Single nucleotide variant (missense variant)	PTPN12-related condition	GBenign
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 1341187	GRCh37/hg19 7q11.23(chr7:76896700-77169384)x3	CCDC146, GSAP +1 more	Copy number gain	not provided	GUncertain significance
Select item 814996	GRCh37/hg19 7q11.23(chr7:77133299-77192123)x1	PTPN12	Copy number loss	not provided	GUncertain significance
Select item 814995	GRCh37/hg19 7q11.23(chr7:76784372-77199666)x3	FGL2, PTPN12 +2 more	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 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 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AASS, ABCA13 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	KLHL7, KLHL7-DT +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

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Items: 58