ClinVar for Gene (Select 400612) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3426006	NM_001164257.2(PRR29):c.131A>C (p.Lys44Thr)	PRR29, PRR29-AS1 (K37T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3310480	NM_001164257.2(PRR29):c.238C>T (p.Pro80Ser)	PRR29, PRR29-AS1 (P73S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3219459	NM_001164257.2(PRR29):c.71C>T (p.Thr24Ile)	PRR29, PRR29-AS1 (T24I)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3219457	NM_001164257.2(PRR29):c.58A>G (p.Thr20Ala)	PRR29, PRR29-AS1 (T20A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2553444	NM_001164257.2(PRR29):c.59C>T (p.Thr20Met)	PRR29, PRR29-AS1 (T20M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2518022	NM_001164257.2(PRR29):c.230C>T (p.Ser77Leu)	PRR29, PRR29-AS1 (S77L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2511510	NM_001164257.2(PRR29):c.200T>G (p.Val67Gly)	PRR29, PRR29-AS1 (V67G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2412088	NM_001164257.2(PRR29):c.227C>A (p.Ala76Asp)	PRR29, PRR29-AS1 (A69D +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2358806	NM_001164257.2(PRR29):c.217C>G (p.Pro73Ala)	PRR29, PRR29-AS1 (P66A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2299190	NM_001164257.2(PRR29):c.206G>C (p.Gly69Ala)	PRR29, PRR29-AS1 (G62A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2276636	NM_001164257.2(PRR29):c.14C>A (p.Ala5Glu)	PRR29, PRR29-AS1 (A5E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2268026	NM_001164257.2(PRR29):c.121G>A (p.Gly41Ser)	PRR29, PRR29-AS1 (G34S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic