4477[HGNC] - ClinVar

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Items: 40

	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 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 57255	GRCh38/hg38 7q22.1-31.1(chr7:101807149-112414850)x1	ALKBH4, ARMC10 +292 more	Copy number loss	See cases	GPathogenic
Select item 148448	GRCh38/hg38 7q22.1-31.31(chr7:102196924-121278641)x1	ALKBH4, ANKRD7 +474 more	Copy number loss	See cases	GPathogenic
Select item 154561	GRCh38/hg38 7q22.3-31.1(chr7:105575647-107949294)x1	ATXN7L1, BCAP29 +104 more	Copy number loss	See cases	GUncertain significance
Select item 60284	GRCh38/hg38 7q22.3-31.1(chr7:106261939-111228036)x1	DUS4L, DUS4L-BCAP29 +92 more	Copy number loss	See cases	GPathogenic
Select item 3282357	NM_005295.3(GPR22):c.46A>G (p.Asn16Asp)	COG5, GPR22 (N16D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282358	NM_005295.3(GPR22):c.67A>G (p.Ile23Val)	COG5, GPR22 (I23V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352795	NM_005295.3(GPR22):c.191T>C (p.Val64Ala)	COG5, GPR22 (V64A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205259	NM_005295.3(GPR22):c.270A>G (p.Ile90Met)	COG5, GPR22 (I90M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101684	NM_005295.3(GPR22):c.397G>A (p.Val133Ile)	COG5, GPR22 (V133I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101685	NM_005295.3(GPR22):c.703C>A (p.Leu235Ile)	COG5, GPR22 (L235I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101686	NM_005295.3(GPR22):c.808G>A (p.Asp270Asn)	COG5, GPR22 (D270N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294279	NM_005295.3(GPR22):c.875T>C (p.Ile292Thr)	COG5, GPR22 (I292T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336358	NM_005295.3(GPR22):c.1137A>C (p.Lys379Asn)	COG5, GPR22 (K379N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332403	NM_005295.3(GPR22):c.1166T>C (p.Ile389Thr)	COG5, GPR22 (I389T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353296	NM_005295.3(GPR22):c.1202T>C (p.Ile401Thr)	COG5, GPR22 (I401T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457445	NM_005295.3(GPR22):c.1271A>G (p.Lys424Arg)	COG5, GPR22 (K424R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375448	NM_005295.3(GPR22):c.1295C>A (p.Thr432Lys)	COG5, GPR22 (T432K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3245840	NC_000007.13:g.(?_102937907)_(108155935_?)del	LAMB4, LHFPL3 +29 more	Deletion	not provided	GPathogenic
Select item 2685260	GRCh37/hg19 7q22.3-31.1(chr7:104536649-109624996)x1	ATXN7L1, BCAP29 +26 more	Copy number loss	not provided	GPathogenic
Select item 2684502	GRCh37/hg19 7q22.3(chr7:106973031-107292912)x3	BCAP29, COG5 +2 more	Copy number gain	not provided	GUncertain significance
Select item 2427609	NC_000007.13:g.(?_102937907)_(107643330_?)dup	ATXN7L1, BCAP29 +26 more	Duplication	not provided	GUncertain significance
Select item 2425579	NC_000007.13:g.(?_106921725)_(107167822_?)del	COG5, GPR22	Deletion	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 2424385	NC_000007.13:g.(?_104456677)_(108155935_?)del	COG5, DLD +23 more	Deletion	not provided	GPathogenic
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 1527383	GRCh37/hg19 7q22.3-32.1(chr7:106984287-128949489)	PRRT4, PTPRZ1 +92 more	Copy number gain	not specified	GPathogenic
Select item 1527380	GRCh37/hg19 7q22.1-31.31(chr7:100676872-119156160)	ALKBH4, ANKRD7 +95 more	Copy number loss	not specified	GPathogenic
Select item 1527379	GRCh37/hg19 7q22.1-31.1(chr7:99417471-111586308)	ACHE, ACTL6B +123 more	Copy number loss	not specified	GPathogenic
Select item 1460265	NC_000007.13:g.(?_107002458)_(107204434_?)del	COG5, DUS4L +1 more	Deletion	COG5-congenital disorder of glycosylation	GPathogenic
Select item 815014	GRCh37/hg19 7q22.3-31.32(chr7:106617406-123217914)x1	TMEM168, LAMB4 +59 more	Copy number loss	not provided	GPathogenic
Select item 805920	GRCh37/hg19 7q22.3-31.1(chr7:104506008-107408857)	DUS4L, GPR22 +18 more	Copy number loss	See cases	GPathogenic
Select item 688242	GRCh37/hg19 7q22.3(chr7:107014544-107115209)x1	COG5, GPR22	Copy number loss	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 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
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: 40