Related gene-specific medical variations for Gene (Select 114805) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3315277	NM_019845.3(RPRM):c.34G>A (p.Ala12Thr)	GALNT13, RPRM (A12T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156180	NM_019845.3(RPRM):c.56G>A (p.Ser19Asn)	GALNT13, RPRM (S19N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098070	NM_052917.4(GALNT13):c.373A>G (p.Asn125Asp)	GALNT13, LOC126806381 (N125D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098067	NM_052917.4(GALNT13):c.1495A>G (p.Met499Val)	GALNT13, GALNT13-AS1 (M413V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098066	NM_052917.4(GALNT13):c.1465G>C (p.Gly489Arg)	GALNT13, GALNT13-AS1 (G308R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619489	NM_052917.4(GALNT13):c.319A>G (p.Thr107Ala)	GALNT13, LOC126806381 (T107A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611501	NM_052917.4(GALNT13):c.389C>T (p.Thr130Ile)	GALNT13, LOC126806381 (T130I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544601	NM_052917.4(GALNT13):c.358G>A (p.Val120Ile)	GALNT13, LOC126806381 (V120I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386674	NM_019845.3(RPRM):c.77C>T (p.Ala26Val)	GALNT13, RPRM (A26V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231623	NM_019845.3(RPRM):c.150C>G (p.Ser50Arg)	GALNT13, RPRM (S50R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526922	GRCh37/hg19 2q24.1(chr2:155257520-155391942)	GALNT13	Copy number loss	not specified	GUncertain significance
Select item 814329	GRCh37/hg19 2q23.3(chr2:154777615-154889520)x1	GALNT13	Copy number loss	not provided	GLikely benign
Select item 814328	GRCh37/hg19 2q23.3(chr2:154517875-154734327)x3	GALNT13	Copy number gain	not provided	GLikely benign
Select item 688003	GRCh37/hg19 2q23.3-24.1(chr2:154340221-155027447)x3	GALNT13	Copy number gain	not provided	GUncertain significance
Select item 394900	GRCh37/hg19 2q24.1(chr2:154961717-155054710)x3	GALNT13	Copy number gain	See cases	GLikely benign
Select item 156807	CM000664.1:g.154163944_154199490dup	GALNT13	Duplication	Small for gestational age	Gnot provided