Related gene-specific medical variations for Gene (Select 752014) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2614303	NM_001048212.3(CEMP1):c.463C>A (p.Arg155Ser)	AMDHD2, CEMP1 (R155S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2596515	NM_001048212.3(CEMP1):c.432G>C (p.Gln144His)	AMDHD2, CEMP1 (Q144H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2520864	NM_001048212.3(CEMP1):c.172G>A (p.Ala58Thr)	AMDHD2, CEMP1 (A58T)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2396864	NM_001048212.3(CEMP1):c.238C>T (p.Arg80Cys)	CEMP1, AMDHD2 (R80C)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2394508	NM_001048212.3(CEMP1):c.53C>T (p.Thr18Ile)	AMDHD2, CEMP1 (T18I)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2374541	NM_001330449.2(AMDHD2):c.*967C>G	AMDHD2, CEMP1 (T519S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2367646	NM_001048212.3(CEMP1):c.173C>T (p.Ala58Val)	CEMP1, AMDHD2 (A58V)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2334278	NM_001048212.3(CEMP1):c.263C>T (p.Pro88Leu)	CEMP1, AMDHD2 (P88L)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2317258	NM_001048212.3(CEMP1):c.104C>G (p.Pro35Arg)	AMDHD2, CEMP1 (P35R)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2298382	NM_001048212.3(CEMP1):c.365C>T (p.Pro122Leu)	AMDHD2, CEMP1 (G579R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2270609	NM_001048212.3(CEMP1):c.185C>T (p.Ala62Val)	CEMP1, AMDHD2 (A62V)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2246734	NM_001330449.2(AMDHD2):c.*719C>G	AMDHD2, CEMP1 (D436E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2241798	NM_001048212.3(CEMP1):c.483G>T (p.Arg161Ser)	AMDHD2, CEMP1 (R161S)	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2213474	NM_001048212.3(CEMP1):c.458C>T (p.Ala153Val)	AMDHD2, CEMP1 (A153V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance