24536[HGNC] - ClinVar

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

Search results

Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 1098574	GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1	ENAM, LOC123477761 +360 more	Copy number loss	Piebaldism	GPathogenic
Select item 1684642	NC_000004.12:g.67833055_82716065del	LINC01088, LINC01094 +330 more	Deletion	See cases	GPathogenic
Select item 155391	GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	LOC129992695, LOC129992696 +533 more	Copy number gain	See cases	GPathogenic
Select item 58031	GRCh38/hg38 4q13.3-21.21(chr4:71128874-78099088)x3	ADAMTS3, AFM +166 more	Copy number gain	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 147880	GRCh38/hg38 4q13.3(chr4:74097483-75266770)x1	AREG, BTC +29 more	Copy number loss	See cases	GUncertain significance
Select item 2335532	NM_015393.4(PARM1):c.4G>T (p.Val2Phe)	PARM1 (V2F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311714	NM_015393.4(PARM1):c.272C>G (p.Thr91Ser)	PARM1 (T91S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272828	NM_015393.4(PARM1):c.304A>T (p.Thr102Ser)	PARM1 (T102S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226918	NM_015393.4(PARM1):c.314C>T (p.Ser105Leu)	PARM1 (S105L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770713	NM_015393.4(PARM1):c.323G>C (p.Gly108Ala)	PARM1 (G108A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3304341	NM_015393.4(PARM1):c.416C>T (p.Ser139Leu)	PARM1 (S139L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213339	NM_015393.4(PARM1):c.424G>A (p.Ala142Thr)	PARM1 (A142T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266683	NM_015393.4(PARM1):c.517G>A (p.Val173Ile)	PARM1 (V173I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2281954	NM_015393.4(PARM1):c.551C>T (p.Thr184Ile)	PARM1 (T184I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304342	NM_015393.4(PARM1):c.581A>T (p.Glu194Val)	PARM1 (E194V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241085	NM_015393.4(PARM1):c.662C>G (p.Pro221Arg)	PARM1 (P221R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312391	NM_015393.4(PARM1):c.685G>A (p.Val229Met)	PARM1 (V229M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382855	NM_015393.4(PARM1):c.713C>A (p.Thr238Asn)	PARM1 (T238N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062778	GRCh37/hg19 4q13.3-21.21(chr4:74822261-79345650)x1	AREG, ART3 +37 more	Copy number loss	not specified	GUncertain significance
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685116	GRCh37/hg19 4q13.3-21.1(chr4:74958697-76341496)x1	AREG, BTC +5 more	Copy number loss	not provided	GUncertain significance
Select item 1809120	GRCh37/hg19 4q13.3(chr4:75244024-75866729)x3	AREG, BTC +2 more	Copy number gain	not provided	GUncertain significance
Select item 1527098	GRCh37/hg19 4q13.3-21.1(chr4:75876865-76546874)	CDKL2, ODAPH +3 more	Copy number gain	not specified	GUncertain significance
Select item 1527097	GRCh37/hg19 4q13.3-22.1(chr4:75737340-91131156)	ABCG2, ABRAXAS1 +91 more	Copy number gain	not specified	GPathogenic
Select item 1527095	GRCh37/hg19 4q13.3-21.21(chr4:73055313-80083154)	CXCL5, CXCL6 +51 more	Copy number loss	not specified	GPathogenic
Select item 1340346	GRCh37/hg19 4q13.3-21.1(chr4:75617591-76926681)x3	BTC, CDKL2 +10 more	Copy number gain	not provided	GUncertain significance
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 983172	GRCh37/hg19 4q13.3-21.3(chr4:71412409-87920784)x1	ABRAXAS1, ADAMTS3 +97 more	Copy number loss	See cases	GPathogenic
Select item 814570	GRCh37/hg19 4q13.3(chr4:75067426-75980925)x3	AREG, EPGN +4 more	Copy number gain	not provided	GUncertain significance
Select item 814566	GRCh37/hg19 4q13.3-21.23(chr4:72680879-86426232)x1	CXCL3, LIN54 +82 more	Copy number loss	not provided	GPathogenic
Select item 814563	GRCh37/hg19 4q13.2-21.21(chr4:68950363-79738598)x1	ADAMTS3, AFM +92 more	Copy number loss	not provided	GPathogenic
Select item 685523	GRCh37/hg19 4q13.3-21.1(chr4:71561780-78304341)x1	ADAMTS3, AFM +51 more	Copy number loss	not provided	GPathogenic
Select item 685236	GRCh37/hg19 4q13.2-21.22(chr4:68242784-82991431)x3	CCNG2, CCNI +109 more	Copy number gain	not provided	GPathogenic
Select item 562933	GRCh37/hg19 4q13.3-21.1(chr4:75353931-77183033)x1	BTC, PARM1 +17 more	Copy number loss	not provided	GUncertain significance
Select item 562932	GRCh37/hg19 4q13.3-21.1(chr4:74890695-77318961)x1	CDKL2, AREG +25 more	Copy number loss	not provided	GUncertain significance
Select item 443262	GRCh37/hg19 4q13.1-21.1(chr4:66017575-76772947)x1	ADAMTS3, AFM +75 more	Copy number loss	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 393532	GRCh37/hg19 4q13.3(chr4:75720151-75883784)x1	PARM1	Copy number loss	VATER association	GLikely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 42