21667[HGNC] - ClinVar

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Items: 34

	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 149050	GRCh38/hg38 7q22.1(chr7:99932610-102473188)x3	ACHE, ACTL6B +283 more	Copy number gain	See cases	GUncertain significance
Select item 60281	GRCh38/hg38 7q22.1(chr7:100419914-102482826)x1	ACHE, ACTL6B +207 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
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 3206920	NM_001126340.3(ORAI2):c.28G>A (p.Asp10Asn)	ORAI2 (D10N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347741	NM_001126340.3(ORAI2):c.49C>T (p.Pro17Ser)	ORAI2 (P17S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2345167	NM_001126340.3(ORAI2):c.58G>A (p.Gly20Ser)	ORAI2 (G20S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3206922	NM_001126340.3(ORAI2):c.64A>G (p.Lys22Glu)	ORAI2 (K22E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330546	NM_001126340.3(ORAI2):c.74A>G (p.Asp25Gly)	ORAI2 (D25G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 783502	NM_001126340.3(ORAI2):c.201C>T (p.Ser67=)	ORAI2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3303486	NM_001126340.3(ORAI2):c.275C>G (p.Pro92Arg)	ORAI2 (P92R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206921	NM_001126340.3(ORAI2):c.526G>A (p.Val176Met)	ORAI2 (V176M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522036	NM_001126340.3(ORAI2):c.535C>T (p.Arg179Trp)	ORAI2 (R102W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489154	NM_001126340.3(ORAI2):c.554C>A (p.Pro185Gln)	ORAI2 (P108Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220305	NM_001126340.3(ORAI2):c.575C>T (p.Thr192Met)	ORAI2 (T115M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478793	NM_001126340.3(ORAI2):c.578G>A (p.Gly193Asp)	ORAI2 (G193D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226895	NM_001126340.3(ORAI2):c.659G>A (p.Arg220His)	ORAI2 (R143H +1 more)	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 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

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Items: 34