9600[HGNC] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147765	GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1	MIGA1, MIR101-1 +558 more	Copy number loss	See cases	GPathogenic
Select item 150045	GRCh38/hg38 1p31.1-22.2(chr1:76419302-88628464)x1	ADGRL2, ADGRL4 +241 more	Copy number loss	See cases	GPathogenic
Select item 152108	GRCh38/hg38 1p31.1(chr1:77777821-79122486)x1	ADGRL4, DNAJB4 +33 more	Copy number loss	See cases	GUncertain significance
Select item 720742	NM_000959.4(PTGFR):c.23A>T (p.Gln8Leu)	PTGFR (Q8L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2358236	NM_000959.4(PTGFR):c.29T>C (p.Val10Ala)	PTGFR (V10A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220747	NM_000959.4(PTGFR):c.68A>G (p.Gln23Arg)	PTGFR (Q23R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220744	NM_000959.4(PTGFR):c.135C>G (p.Ser45Arg)	PTGFR (S45R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311300	NM_000959.4(PTGFR):c.277G>A (p.Ala93Thr)	PTGFR (A93T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523571	NM_000959.4(PTGFR):c.299G>A (p.Arg100His)	PTGFR (R100H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220745	NM_000959.4(PTGFR):c.397C>T (p.Arg133Trp)	PTGFR (R133W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369814	NM_000959.4(PTGFR):c.442A>G (p.Thr148Ala)	PTGFR (T148A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1801806	NM_000959.4(PTGFR):c.449A>T (p.Lys150Ile)	PTGFR (K150I)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 2620799	NM_000959.4(PTGFR):c.504G>T (p.Leu168Phe)	PTGFR (L168F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297549	NM_000959.4(PTGFR):c.611T>A (p.Leu204His)	PTGFR (L204H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711770	NM_000959.4(PTGFR):c.653T>C (p.Leu218Ser)	PTGFR (L218S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3220746	NM_000959.4(PTGFR):c.677C>G (p.Thr226Arg)	PTGFR (T226R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311299	NM_000959.4(PTGFR):c.718G>A (p.Gly240Ser)	PTGFR (G240S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638894	NM_000959.4(PTGFR):c.1012A>G (p.Ile338Val)	PTGFR (I338V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3024572	GRCh37/hg19 1p31.1-22.3(chr1:73616197-87012961)x1	ACADM, ADGRL2 +52 more	Copy number loss	not provided	GLikely pathogenic
Select item 2685808	GRCh37/hg19 1p31.1(chr1:78421460-79541287)x3	ADGRL4, DNAJB4 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1527060	GRCh37/hg19 1p31.3-22.1(chr1:68180293-92731957)	MCOLN3, MIGA1 +97 more	Copy number loss	not specified	GPathogenic
Select item 814105	GRCh37/hg19 1p31.1(chr1:78257937-79159519)x3	MIGA1, NEXN +6 more	Copy number gain	not provided	GUncertain significance
Select item 687475	GRCh37/hg19 1p31.1(chr1:78849920-79027405)x3	PTGFR	Copy number gain	not provided	GUncertain significance
Select item 686509	GRCh37/hg19 1p31.1(chr1:78186240-81611776)x3	ADGRL4, DNAJB4 +8 more	Copy number gain	not provided	GUncertain significance
Select item 686133	GRCh37/hg19 1p31.1(chr1:78186240-81611776)x3	ADGRL4, DNAJB4 +8 more	Copy number gain	not provided	GUncertain significance
Select item 685733	GRCh37/hg19 1p31.3-22.3(chr1:67851233-86101340)x1	ACADM, ADGRL2 +65 more	Copy number loss	not provided	GPathogenic
Select item 684460	Single allele	ACADM, ADGRL2 +85 more	Deletion	not provided	Gnot provided
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 565118	GRCh37/hg19 1p31.1(chr1:78889336-79190906)x1	IFI44L, IFI44 +1 more	Copy number loss	not provided	GUncertain significance
Select item 443570	GRCh37/hg19 1p31.1(chr1:78633282-79140880)x1	IFI44, IFI44L +1 more	Copy number loss	See cases	GUncertain significance
Select item 442708	GRCh37/hg19 1p31.3-22.3(chr1:64321264-88153669)x1	ACADM, ADGRL2 +94 more	Copy number loss	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 441908	GRCh37/hg19 1p31.1-22.1(chr1:72044544-92505091)x1	ACADM, ADGRL2 +80 more	Copy number loss	See cases	GPathogenic
Select item 441757	GRCh37/hg19 1p31.1(chr1:74848936-80324850)x3	ACADM, ADGRL4 +24 more	Copy number gain	See cases	GUncertain significance
Select item 441647	GRCh37/hg19 1p31.3-31.1(chr1:61351024-79583933)x1	ACADM, ADGRL4 +78 more	Copy number loss	See cases	GPathogenic

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Items: 36