ClinVar for Gene (Select 106144529) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3102730	NM_152407.4(GRPEL2):c.245G>A (p.Arg82Lys)	GRPEL2, GRPEL2-AS1 (R82K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102729	NM_152407.4(GRPEL2):c.134G>A (p.Arg45His)	GRPEL2, GRPEL2-AS1 (R45H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2551620	NM_152407.4(GRPEL2):c.324T>G (p.Ser108Arg)	GRPEL2, GRPEL2-AS1 (S108R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466614	NM_152407.4(GRPEL2):c.86C>T (p.Pro29Leu)	GRPEL2, GRPEL2-AS1 (P29L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2393737	NM_152407.4(GRPEL2):c.163C>G (p.Pro55Ala)	GRPEL2, GRPEL2-AS1 (P55A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2297771	NM_152407.4(GRPEL2):c.199G>A (p.Val67Ile)	GRPEL2, GRPEL2-AS1 (V67I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2266970	NM_152407.4(GRPEL2):c.272G>A (p.Arg91Lys)	GRPEL2, GRPEL2-AS1 (R91K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250754	NM_152407.4(GRPEL2):c.181G>A (p.Ala61Thr)	GRPEL2, GRPEL2-AS1 (A61T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 150685	GRCh38/hg38 5q31.3-32(chr5:141089988-149530678)x3	LOC129994934, LOC129994935 +313 more	Copy number gain	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129995052, LOC129995053 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic