10926[Gene ID] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 155204	GRCh38/hg38 7q21.11-21.3(chr7:84002634-95228883)x1	LOC129998788, LOC129998789 +227 more	Copy number loss	See cases	GPathogenic
Select item 151098	GRCh38/hg38 7q21.12-21.2(chr7:87379476-91731873)x1	ABCB1, ABCB4 +78 more	Copy number loss	See cases	GLikely pathogenic
Select item 792081	NM_006716.4(DBF4):c.54C>A (p.Ile18=)	DBF4	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2620769	NM_006716.4(DBF4):c.76A>G (p.Arg26Gly)	DBF4 (R26G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2299851	NM_006716.4(DBF4):c.141G>C (p.Trp47Cys)	DBF4 (W47C)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3080154	NM_006716.4(DBF4):c.617G>A (p.Gly206Asp)	DBF4 (G206D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260942	NM_006716.4(DBF4):c.762T>G (p.Asp254Glu)	DBF4 (D21E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519002	NM_006716.4(DBF4):c.767A>T (p.Asp256Val)	DBF4 (D256V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080155	NM_006716.4(DBF4):c.950A>G (p.Asn317Ser)	DBF4 (N317S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556060	NM_006716.4(DBF4):c.1072C>T (p.Leu358Phe)	DBF4 (L98F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339304	NM_006716.4(DBF4):c.1103A>G (p.Lys368Arg)	DBF4 (K135R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591562	NM_006716.4(DBF4):c.1162G>C (p.Asp388His)	DBF4 (D164H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599444	NM_006716.4(DBF4):c.1250C>G (p.Pro417Arg)	DBF4 (P184R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080148	NM_006716.4(DBF4):c.1252C>G (p.His418Asp)	DBF4 (H194D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554665	NM_006716.4(DBF4):c.1316C>T (p.Thr439Ile)	DBF4 (T206I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308438	NM_006716.4(DBF4):c.1556A>C (p.Lys519Thr)	DBF4 (K286T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790355	NM_006716.4(DBF4):c.1576A>G (p.Ile526Val)	DBF4 (I266V +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2377272	NM_006716.4(DBF4):c.1583C>T (p.Thr528Ile)	DBF4 (T268I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080149	NM_006716.4(DBF4):c.1585C>T (p.His529Tyr)	DBF4 (H269Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557093	NM_006716.4(DBF4):c.1602A>G (p.Ile534Met)	DBF4 (I301M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080150	NM_006716.4(DBF4):c.1618C>A (p.Gln540Lys)	DBF4 (Q540K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597873	NM_006716.4(DBF4):c.1658C>T (p.Thr553Ile)	DBF4 (T329I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325435	NM_006716.4(DBF4):c.1672C>T (p.Pro558Ser)	DBF4 (P325S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080151	NM_006716.4(DBF4):c.1727G>A (p.Arg576Gln)	DBF4 (R343Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 779253	NM_006716.4(DBF4):c.1735A>G (p.Lys579Glu)	DBF4 (K346E +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3080152	NM_006716.4(DBF4):c.1823A>G (p.Asn608Ser)	DBF4 (N348S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270916	NM_006716.4(DBF4):c.1895T>G (p.Leu632Trp)	DBF4 (L372W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489791	NM_006716.4(DBF4):c.1960A>G (p.Asn654Asp)	DBF4 (N421D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080153	NM_006716.4(DBF4):c.1982C>T (p.Ala661Val)	DBF4 (A401V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289050	NM_006716.4(DBF4):c.1991C>T (p.Ser664Leu)	DBF4 (S404L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808544	GRCh37/hg19 7q21.12(chr7:87379070-87880398)x3	ADAM22, DBF4 +3 more	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 1527375	GRCh37/hg19 7q21.12(chr7:87532240-87805535)	ADAM22, DBF4	Copy number loss	not specified	GUncertain significance
Select item 1527374	GRCh37/hg19 7q21.12-21.13(chr7:87482666-89449405)	ADAM22, DBF4 +5 more	Copy number loss	not specified	GUncertain significance
Select item 1527369	GRCh37/hg19 7q21.11-21.3(chr7:77821356-93340137)	ABCB1, ABCB4 +50 more	Copy number gain	not specified	GPathogenic
Select item 1047880	GRCh37/hg19 7q21.12-22.1(chr7:87477185-100333327)	ATP5MF-PTCD1, AZGP1 +127 more	Copy number gain	Isolated Pierre-Robin syndrome +1 more	GPathogenic
Select item 979630	GRCh37/hg19 7q21.12(chr7:86833114-87553208)x3	ABCB4, RUNDC3B +5 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 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	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 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: 45