ClinVar for Gene (Select 134266) - ClinVar

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

Links from Gene

Items: 26

	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 2466236	NM_152407.4(GRPEL2):c.44G>A (p.Arg15His)	GRPEL2 (R15H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425319	NC_000005.9:g.(?_147774340)_(149681936_?)del	ABLIM3, ADRB2 +23 more	Deletion	not provided	GUncertain significance
Select item 2402086	NM_152407.4(GRPEL2):c.67T>C (p.Trp23Arg)	GRPEL2 (W23R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2224926	NM_152407.4(GRPEL2):c.23C>T (p.Ala8Val)	GRPEL2 (A8V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808574	GRCh37/hg19 5q32(chr5:147164969-149315489)x1	ABLIM3, ADRB2 +23 more	Copy number loss	not provided	GPathogenic
Select item 687529	GRCh37/hg19 5q31.3-32(chr5:140424333-148985999)x3	ABLIM3, ADRB2 +92 more	Copy number gain	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	AFF4, C5orf46 +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 442272	GRCh37/hg19 5q31.3-32(chr5:141113273-149154835)x1	ABLIM3, ADRB2 +48 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 150685	GRCh38/hg38 5q31.3-32(chr5:141089988-149530678)x3	ABLIM3, ADRB2 +313 more	Copy number gain	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 26