Related gene-specific medical variations for Gene (Select 200197) - ClinVar - NCBI

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Links from Gene

Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3287432	NM_201628.3(KAZN):c.2113C>T (p.Arg705Trp)	KAZN, TMEM51-AS1 (R705W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3287430	NM_201628.3(KAZN):c.2114G>C (p.Arg705Pro)	KAZN, TMEM51-AS1 (R705P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3112912	NM_201628.3(KAZN):c.2241C>G (p.Asn747Lys)	KAZN, TMEM51-AS1 (N747K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3112911	NM_201628.3(KAZN):c.2140G>T (p.Gly714Cys)	KAZN, TMEM51-AS1 (G714C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2603041	NM_201628.3(KAZN):c.2238A>T (p.Gln746His)	KAZN, TMEM51-AS1 (Q746H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2603040	NM_201628.3(KAZN):c.2212T>A (p.Phe738Ile)	KAZN, TMEM51-AS1 (F738I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2599420	NM_201628.3(KAZN):c.2140G>A (p.Gly714Ser)	KAZN, TMEM51-AS1 (G714S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2599279	NM_201628.3(KAZN):c.2264C>A (p.Pro755His)	KAZN, TMEM51-AS1 (P755H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2328852	NM_201628.3(KAZN):c.2161C>T (p.Arg721Trp)	KAZN, TMEM51-AS1 (R721W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2294013	NM_201628.3(KAZN):c.2323G>A (p.Val775Met)	KAZN, TMEM51-AS1 (V775M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance