ClinVar for Gene (Select 24146) - ClinVar

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Links from Gene

Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3267592	NM_014343.3(CLDN15):c.148T>G (p.Phe50Val)	CLDN15 (F50V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267591	NM_014343.3(CLDN15):c.5C>T (p.Ser2Leu)	CLDN15 (S2L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267590	NM_014343.3(CLDN15):c.400G>A (p.Ala134Thr)	CLDN15 (A134T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145469	NM_014343.3(CLDN15):c.637C>G (p.Gln213Glu)	CLDN15 (Q213E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145467	NM_014343.3(CLDN15):c.253G>A (p.Ala85Thr)	CLDN15 (A85T)	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 3062968	GRCh37/hg19 7q22.1(chr7:100454649-101886704)x1	ACHE, AP1S1 +20 more	Copy number loss	not specified	GPathogenic
Select item 2685254	GRCh37/hg19 7q22.1(chr7:99114000-101878272)x1	CYP3A4, CYP3A43 +73 more	Copy number loss	not provided	GPathogenic
Select item 2684498	GRCh37/hg19 7q22.1(chr7:100872231-101464440)x3	CLDN15, COL26A1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2684496	GRCh37/hg19 7q22.1(chr7:100532371-101116321)x3	AP1S1, CLDN15 +13 more	Copy number gain	not provided	GUncertain significance
Select item 2589768	NM_014343.3(CLDN15):c.529C>T (p.Leu177Phe)	CLDN15 (L177F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484630	NM_014343.3(CLDN15):c.641A>G (p.Glu214Gly)	CLDN15 (E214G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351411	NM_014343.3(CLDN15):c.565G>A (p.Glu189Lys)	CLDN15 (E189K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338891	NM_014343.3(CLDN15):c.259C>A (p.Leu87Ile)	CLDN15 (L87I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287709	NM_014343.3(CLDN15):c.179A>G (p.Tyr60Cys)	CLDN15 (Y60C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256445	NM_014343.3(CLDN15):c.344A>G (p.Lys115Arg)	CLDN15 (K115R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228079	NM_014343.3(CLDN15):c.314T>C (p.Ile105Thr)	CLDN15 (I105T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224896	NM_014343.3(CLDN15):c.271C>T (p.Leu91Phe)	CLDN15 (L91F)	Single nucleotide variant (missense variant)	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 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 147676	GRCh38/hg38 7q22.1(chr7:101130561-101255628)x3	AP1S1, CLDN15 +23 more	Copy number gain	See cases	GBenign
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 146501	GRCh38/hg38 7q22.1(chr7:99195836-102258175)x1	ACHE, ACTL6B +310 more	Copy number loss	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 59713	GRCh38/hg38 7q21.3-22.1(chr7:98288474-101259804)x3	ACHE, ACTL6B +300 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 37