"Ambry Genetics"[submitter] AND "TMEM272"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2371667	NM_031290.4(CCDC70):c.-24C>T	CCDC70, TMEM272	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	GUncertain significance
Select item 2374610	NM_031290.4(CCDC70):c.-14G>A	CCDC70, TMEM272	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	GUncertain significance
Select item 2618141	NM_031290.4(CCDC70):c.13A>G (p.Lys5Glu)	CCDC70, TMEM272 (K5E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365826	NM_031290.4(CCDC70):c.13A>C (p.Lys5Gln)	TMEM272, CCDC70 (K5Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306682	NM_031290.4(CCDC70):c.73A>T (p.Ile25Phe)	TMEM272, CCDC70 (I25F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2379297	NM_031290.4(CCDC70):c.76C>T (p.Arg26Cys)	TMEM272, CCDC70 (R26C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321829	NM_031290.4(CCDC70):c.115G>T (p.Ala39Ser)	TMEM272, CCDC70 (A39S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394345	NM_031290.4(CCDC70):c.344G>A (p.Arg115His)	CCDC70, TMEM272 (R115H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219461	NM_031290.4(CCDC70):c.363T>A (p.Asp121Glu)	CCDC70, TMEM272 (D121E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466125	NM_031290.4(CCDC70):c.412C>T (p.Leu138Phe)	CCDC70, TMEM272 (L138F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210853	NM_031290.4(CCDC70):c.463G>C (p.Glu155Gln)	CCDC70, TMEM272 (E155Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256948	NM_031290.4(CCDC70):c.570G>T (p.Glu190Asp)	CCDC70, TMEM272 (E190D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353534	NM_031290.4(CCDC70):c.575A>G (p.Asn192Ser)	CCDC70, TMEM272 (N192S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491102	NM_031290.4(CCDC70):c.622G>A (p.Ala208Thr)	CCDC70, TMEM272 (A208T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308528	NM_031290.4(CCDC70):c.637C>T (p.Arg213Cys)	TMEM272, CCDC70 (R213C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206164	NM_031290.4(CCDC70):c.655C>G (p.Arg219Gly)	CCDC70, TMEM272 (R219G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance