PARM1[gene] - ClinVar

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Items: 40

	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	CDKL2, LOC110120745 +360 more	Copy number loss	Piebaldism	GPathogenic
Select item 1684642	NC_000004.12:g.67833055_82716065del	FRAS1, LOC126807074 +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 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 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	ARHGEF38, ARL9 +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)	C4orf51, CABS1 +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	NAA11, NAA15 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	HELT, HERC3 +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

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Items: 40