ClinVar for Gene (Select 5577) - ClinVar

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Links from Gene

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2605131	NM_002736.3(PRKAR2B):c.196G>A (p.Gly66Arg)	PRKAR2B (G66R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541407	NM_002736.3(PRKAR2B):c.8T>A (p.Ile3Asn)	LOC123956207, PRKAR2B (I3N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534493	NM_002736.3(PRKAR2B):c.121C>G (p.Gln41Glu)	LOC123956207, PRKAR2B (Q41E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2427609	NC_000007.13:g.(?_102937907)_(107643330_?)dup	ATXN7L1, BCAP29 +26 more	Duplication	not provided	GUncertain significance
Select item 2424385	NC_000007.13:g.(?_104456677)_(108155935_?)del	COG5, DLD +23 more	Deletion	not provided	GPathogenic
Select item 2327050	NM_002736.3(PRKAR2B):c.653G>A (p.Arg218His)	PRKAR2B (R218H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313663	NM_002736.3(PRKAR2B):c.842A>T (p.Glu281Val)	PRKAR2B (E281V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234695	NM_002736.3(PRKAR2B):c.1034C>T (p.Ser345Leu)	PRKAR2B (S345L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227598	NM_002736.3(PRKAR2B):c.10G>A (p.Glu4Lys)	LOC123956207, PRKAR2B (E4K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 815014	GRCh37/hg19 7q22.3-31.32(chr7:106617406-123217914)x1	TMEM168, LAMB4 +59 more	Copy number loss	not provided	GPathogenic
Select item 815013	GRCh37/hg19 7q22.3(chr7:106596321-106910550)x1	PRKAR2B, COG5 +1 more	Copy number loss	not provided	GUncertain significance
Select item 805920	GRCh37/hg19 7q22.3-31.1(chr7:104506008-107408857)	DUS4L, GPR22 +18 more	Copy number loss	See cases	GPathogenic
Select item 786743	NM_002736.3(PRKAR2B):c.1188C>T (p.Ile396=)	PRKAR2B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 782271	NM_002736.3(PRKAR2B):c.888A>G (p.Val296=)	PRKAR2B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 780702	NM_002736.3(PRKAR2B):c.343+5G>A	PRKAR2B, PRKAR2B-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 776251	NM_002736.3(PRKAR2B):c.75C>A (p.Pro25=)	LOC123956207, PRKAR2B	Single nucleotide variant (synonymous variant)	not provided	GBenign
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	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
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 148448	GRCh38/hg38 7q22.1-31.31(chr7:102196924-121278641)x1	ALKBH4, ANKRD7 +474 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC129998995, LOC129998996 +2212 more	Copy number gain	See cases	GPathogenic
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 60284	GRCh38/hg38 7q22.3-31.1(chr7:106261939-111228036)x1	DUS4L, DUS4L-BCAP29 +92 more	Copy number loss	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

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Links from Gene

Items: 33