ClinVar for Gene (Select 112997542) - ClinVar

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Links from Gene

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3105092	NM_133636.5(HELQ):c.5A>G (p.Asp2Gly)	HELQ, LOC112997542 (D2G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3105091	NM_133636.5(HELQ):c.54C>G (p.Asn18Lys)	HELQ, LOC112997542 (N18K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3105079	NM_133636.5(HELQ):c.16T>G (p.Ser6Ala)	HELQ, LOC112997542 (S6A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3048428	NM_133636.5(HELQ):c.47A>G (p.Lys16Arg)	HELQ, LOC112997542 (K16R)	Single nucleotide variant (missense variant +2 more)	HELQ-related condition	GLikely benign
Select item 3041319	NM_133636.5(HELQ):c.108C>G (p.Pro36=)	HELQ, LOC112997542	Single nucleotide variant (synonymous variant +2 more)	HELQ-related condition	GBenign
Select item 3037678	NM_133636.5(HELQ):c.224T>A (p.Leu75His)	HELQ, LOC112997542 (L75H)	Single nucleotide variant (missense variant +3 more)	HELQ-related condition	GLikely benign
Select item 3033776	NM_133636.5(HELQ):c.150C>T (p.Asn50=)	HELQ, LOC112997542	Single nucleotide variant (synonymous variant +2 more)	HELQ-related condition	GLikely benign
Select item 2579270	GRCh38/hg38 4q21.21-23(chr4:79123548-99457773)x1	ABCG2, ABRAXAS1 +338 more	Copy number loss	Chromosome 4q21 deletion syndrome	GPathogenic
Select item 2517779	NM_133636.5(HELQ):c.19C>T (p.Arg7Cys)	HELQ, LOC112997542 (R7C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2365992	NM_133636.5(HELQ):c.136A>G (p.Met46Val)	HELQ, LOC112997542 (M46V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2326773	NM_133636.5(HELQ):c.265C>T (p.His89Tyr)	HELQ, LOC112997542 (H89Y)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2307521	NM_016067.4(MRPS18C):c.10G>T (p.Val4Leu)	LOC112997542, MRPS18C (V4L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 782246	NM_133636.5(HELQ):c.53A>G (p.Asn18Ser)	HELQ, LOC112997542 (N18S)	Single nucleotide variant (missense variant +2 more)	HELQ-related condition +1 more	GBenign/Likely benign
Select item 780111	NM_133636.5(HELQ):c.106C>T (p.Pro36Ser)	HELQ, LOC112997542 (P36S)	Single nucleotide variant (missense variant +2 more)	HELQ-related condition +1 more	GBenign
Select item 155391	GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	LOC129992716, LOC129992717 +533 more	Copy number gain	See cases	GPathogenic
Select item 155254	GRCh38/hg38 4q21.22-21.23(chr4:81675848-83970410)x1	ABRAXAS1, COPS4 +74 more	Copy number loss	See cases	GLikely pathogenic
Select item 151718	GRCh38/hg38 4q21.21-21.3(chr4:80043949-86948317)x1	ABRAXAS1, AFF1 +146 more	Copy number loss	See cases	GPathogenic
Select item 149262	GRCh38/hg38 4q13.3-21.3(chr4:72262258-86002147)x3	ABRAXAS1, ADAMTS3 +331 more	Copy number gain	See cases	GPathogenic
Select item 148797	GRCh38/hg38 4q21.21-21.23(chr4:80908016-84329610)x1	ABRAXAS1, BMP3 +90 more	Copy number loss	See cases	GLikely pathogenic
Select item 148194	GRCh38/hg38 4q21.21-24(chr4:80427023-100855441)x1	ABCG2, ABRAXAS1 +335 more	Copy number loss	See cases	GPathogenic
Select item 147709	GRCh38/hg38 4q21.21-21.23(chr4:79786514-85832807)x1	ABRAXAS1, ANTXR2 +137 more	Copy number loss	See cases	GPathogenic
Select item 145649	GRCh38/hg38 4q21.21-22.3(chr4:80879777-94809447)x1	ABCG2, ABRAXAS1 +244 more	Copy number loss	See cases	GPathogenic
Select item 59455	GRCh38/hg38 4q21.21-22.1(chr4:79575748-92412449)x1	ABCG2, ABRAXAS1 +251 more	Copy number loss	See cases	GPathogenic
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 57143	GRCh38/hg38 4q21.1-21.23(chr4:75453111-84094295)x1	LOC129992733, LOC129992734 +236 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 25