Related gene-specific medical variations for Gene (Select 171425) - ClinVar

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Links from Gene

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3267952	NM_206808.5(CLYBL):c.898G>C (p.Ala300Pro)	CLYBL, CLYBL-AS3 (A300P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267951	NM_206808.5(CLYBL):c.1000G>A (p.Ala334Thr)	CLYBL, CLYBL-AS3 (A300T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146192	NM_206808.5(CLYBL):c.959A>T (p.Asp320Val)	CLYBL, CLYBL-AS3 (D320V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146191	NM_206808.5(CLYBL):c.879G>C (p.Trp293Cys)	CLYBL, CLYBL-AS3 (W293C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146190	NM_206808.5(CLYBL):c.791T>C (p.Met264Thr)	CLYBL, CLYBL-AS3 (M230T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146189	NM_206808.5(CLYBL):c.776G>A (p.Arg259Gln)	CLYBL, CLYBL-AS3 (R225Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146188	NM_206808.5(CLYBL):c.623G>A (p.Arg208Gln)	CLYBL-AS3, CLYBL (R174Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146186	NM_206808.5(CLYBL):c.52C>G (p.Leu18Val)	LOC112163637, CLYBL (L18V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146185	NM_206808.5(CLYBL):c.50C>T (p.Ala17Val)	CLYBL, LOC112163637 (A17V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146184	NM_206808.5(CLYBL):c.280C>G (p.Leu94Val)	CLYBL, CLYBL-AS3 (L94V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146182	NM_206808.5(CLYBL):c.217G>T (p.Asp73Tyr)	CLYBL, CLYBL-AS3 (D73Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622493	NM_206808.5(CLYBL):c.656C>A (p.Thr219Asn)	CLYBL, CLYBL-AS3 (T185N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592637	NM_206808.5(CLYBL):c.38C>T (p.Ala13Val)	CLYBL, LOC112163637 (A13V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2554323	NM_206808.5(CLYBL):c.49G>T (p.Ala17Ser)	CLYBL, LOC112163637 (A17S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535525	NM_206808.5(CLYBL):c.260G>A (p.Arg87Gln)	CLYBL, CLYBL-AS3 (R87Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481971	NM_206808.5(CLYBL):c.10C>T (p.Arg4Cys)	CLYBL, LOC112163637 (R4C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463120	NM_206808.5(CLYBL):c.31C>G (p.Arg11Gly)	CLYBL, LOC112163637 (R11G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458019	NM_206808.5(CLYBL):c.134G>A (p.Arg45Gln)	CLYBL, CLYBL-AS3 (R45Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2370143	NM_206808.5(CLYBL):c.787G>A (p.Ala263Thr)	CLYBL, CLYBL-AS3 (A263T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360100	NM_206808.5(CLYBL):c.643A>G (p.Ser215Gly)	CLYBL, CLYBL-AS3 (S215G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345547	NM_206808.5(CLYBL):c.380G>A (p.Arg127Gln)	CLYBL, CLYBL-AS3 (R127Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343833	NM_206808.5(CLYBL):c.995C>T (p.Thr332Met)	CLYBL, CLYBL-AS3 (T298M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325272	NM_206808.5(CLYBL):c.49G>A (p.Ala17Thr)	CLYBL, LOC112163637 (A17T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318762	NM_206808.5(CLYBL):c.565G>A (p.Val189Ile)	CLYBL, CLYBL-AS3 (V189I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2267147	NM_206808.5(CLYBL):c.695T>C (p.Ile232Thr)	CLYBL, CLYBL-AS3 (I232T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249333	NM_206808.5(CLYBL):c.601G>A (p.Val201Ile)	CLYBL, CLYBL-AS3 (V167I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240230	NM_206808.5(CLYBL):c.5C>G (p.Ala2Gly)	CLYBL, LOC112163637 (A2G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226354	NM_206808.5(CLYBL):c.407C>G (p.Pro136Arg)	CLYBL, CLYBL-AS3 (P136R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216046	NM_206808.5(CLYBL):c.592G>C (p.Asp198His)	CLYBL, CLYBL-AS3 (D164H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 815615	GRCh37/hg19 13q32.3(chr13:100462518-100573513)x1	CLYBL	Copy number loss	not provided	GLikely benign

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Links from Gene

Items: 30