Related gene-specific medical variations for Gene (Select 644353) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3334144	NM_001143978.3(ZCCHC18):c.1087G>A (p.Asp363Asn)	SLC25A53, ZCCHC18 (D363N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334143	NM_001143978.3(ZCCHC18):c.830A>C (p.Glu277Ala)	SLC25A53, ZCCHC18 (E277A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192514	NM_001143978.3(ZCCHC18):c.958T>C (p.Ser320Pro)	SLC25A53, ZCCHC18 (S320P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192513	NM_001143978.3(ZCCHC18):c.8G>C (p.Ser3Thr)	SLC25A53, ZCCHC18 (S3T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192512	NM_001143978.3(ZCCHC18):c.737T>C (p.Val246Ala)	SLC25A53, ZCCHC18 (V246A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192511	NM_001143978.3(ZCCHC18):c.633G>C (p.Glu211Asp)	SLC25A53, ZCCHC18 (E211D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192510	NM_001143978.3(ZCCHC18):c.607C>A (p.Gln203Lys)	SLC25A53, ZCCHC18 (Q203K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192509	NM_001143978.3(ZCCHC18):c.129A>C (p.Arg43Ser)	SLC25A53, ZCCHC18 (R43S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2661108	NM_001143978.3(ZCCHC18):c.891C>T (p.Phe297=)	SLC25A53, ZCCHC18	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2607269	NM_001143978.3(ZCCHC18):c.512A>C (p.Asn171Thr)	SLC25A53, ZCCHC18 (N171T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400420	NM_001143978.3(ZCCHC18):c.86T>C (p.Leu29Pro)	SLC25A53, ZCCHC18 (L29P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397974	NM_001143978.3(ZCCHC18):c.863C>T (p.Ser288Leu)	SLC25A53, ZCCHC18 (S288L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350444	NM_001143978.3(ZCCHC18):c.844G>T (p.Val282Leu)	SLC25A53, ZCCHC18 (V282L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347848	NM_001143978.3(ZCCHC18):c.566G>A (p.Arg189His)	SLC25A53, ZCCHC18 (R189H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333141	NM_001143978.3(ZCCHC18):c.433G>T (p.Ala145Ser)	SLC25A53, ZCCHC18 (A145S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315152	NM_001143978.3(ZCCHC18):c.1156G>A (p.Glu386Lys)	SLC25A53, ZCCHC18 (E386K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2307236	NM_001143978.3(ZCCHC18):c.685C>T (p.Arg229Trp)	SLC25A53, ZCCHC18 (R229W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279661	NM_001143978.3(ZCCHC18):c.971G>A (p.Ser324Asn)	SLC25A53, ZCCHC18 (S324N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1206047	NM_001143978.3(ZCCHC18):c.967A>G (p.Thr323Ala)	SLC25A53, ZCCHC18 (T323A)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign