ClinVar for Gene (Select 79706) - ClinVar

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Links from Gene

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3310215	NM_024653.4(PRKRIP1):c.166G>A (p.Ala56Thr)	LOC100630923, PRKRIP1 (A56T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3310213	NM_024653.4(PRKRIP1):c.85G>A (p.Glu29Lys)	LOC100630923, PRKRIP1 (E29K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310212	NM_024653.4(PRKRIP1):c.487A>G (p.Ser163Gly)	LOC100630923, PRKRIP1 (S163G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3310211	NM_024653.4(PRKRIP1):c.463G>A (p.Gly155Ser)	LOC100630923, PRKRIP1 (G155S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3218881	NM_024653.4(PRKRIP1):c.383G>A (p.Arg128Gln)	LOC100630923, PRKRIP1 (R128Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3218880	NM_024653.4(PRKRIP1):c.14C>T (p.Ala5Val)	LOC100630923, PRKRIP1 (A5V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062972	GRCh37/hg19 7q22.1(chr7:98396469-102108193)x1	ACHE, ACTL6B +93 more	Copy number loss	not specified	GLikely pathogenic
Select item 2597211	NM_024653.4(PRKRIP1):c.115A>G (p.Met39Val)	LOC100630923, PRKRIP1 (M39V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461457	NM_024653.4(PRKRIP1):c.73A>C (p.Lys25Gln)	LOC100630923, PRKRIP1 (K25Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362110	NM_024653.4(PRKRIP1):c.97C>G (p.Leu33Val)	LOC100630923, PRKRIP1 (L33V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333704	NM_024653.4(PRKRIP1):c.22T>G (p.Ser8Ala)	LOC100630923, PRKRIP1 (S8A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328801	NM_024653.4(PRKRIP1):c.389A>G (p.Lys130Arg)	LOC100630923, PRKRIP1 (K130R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	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 1340289	GRCh37/hg19 7q22.1(chr7:101729998-102114340)x3	ALKBH4, CUX1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 929826	GRCh37/hg19 7q22.1(chr7:99593346-102470275)x1	ACHE, ACTL6B +77 more	Copy number loss	See cases	GLikely pathogenic
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 563415	GRCh37/hg19 7q22.1(chr7:98847725-102472176)x1	CYP3A43, GJC3 +99 more	Copy number loss	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
Select item 149050	GRCh38/hg38 7q22.1(chr7:99932610-102473188)x3	ACHE, ACTL6B +283 more	Copy number gain	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	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
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 60281	GRCh38/hg38 7q22.1(chr7:100419914-102482826)x1	ACHE, ACTL6B +207 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
Select item 57092	GRCh38/hg38 7q22.1-22.3(chr7:101525795-105432462)x3	ALKBH4, ARMC10 +149 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 32