PGD[gene] - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC129929105, LOC129929106 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 147521	GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1	ACAP3, ACOT7 +806 more	Copy number loss	See cases	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	LINC02783, LINC03126 +804 more	Copy number loss	See cases	GPathogenic
Select item 148387	GRCh38/hg38 1p36.32-36.21(chr1:4898439-12911913)x1	AADACL3, AADACL4 +500 more	Copy number loss	See cases	GPathogenic
Select item 59856	GRCh38/hg38 1p36.32-36.21(chr1:4898439-13111056)x1	LOC129929435, LOC129929436 +505 more	Copy number loss	See cases	GPathogenic
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	PLOD1, PRAMEF1 +730 more	Copy number loss	See cases	GPathogenic
Select item 148885	GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1	LOC129929327, LOC129929328 +557 more	Copy number loss	See cases	GPathogenic
Select item 154839	GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3	AADACL3, AADACL4 +563 more	Copy number gain	See cases	GPathogenic
Select item 58051	GRCh38/hg38 1p36.31-36.21(chr1:6652339-12724844)x3	AADACL3, AADACL4 +387 more	Copy number gain	See cases	GPathogenic
Select item 59884	GRCh38/hg38 1p36.23-36.21(chr1:7165036-13111056)x1	AADACL3, AADACL4 +386 more	Copy number loss	See cases	GPathogenic
Select item 146535	GRCh38/hg38 1p36.23-36.22(chr1:8283694-12470133)x1	AGTRAP, ANGPTL7 +309 more	Copy number loss	See cases	GPathogenic
Select item 59885	GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1	AADACL3, AADACL4 +462 more	Copy number loss	See cases	GPathogenic
Select item 144297	GRCh38/hg38 1p36.23-36.21(chr1:9064492-12666744)x1	AADACL4, AGTRAP +280 more	Copy number loss	See cases	GPathogenic
Select item 152293	GRCh38/hg38 1p36.22-36.21(chr1:9428538-15815791)x1	AADACL3, AADACL4 +370 more	Copy number loss	See cases	GPathogenic
Select item 1707471	NC_000001.11:g.10115497_16283149dup	LOC110120623, LOC110120648 +361 more	Duplication	not specified	GLikely pathogenic
Select item 148364	GRCh38/hg38 1p36.22(chr1:10245412-10637093)x1	CENPS, CENPS-CORT +30 more	Copy number loss	See cases	GLikely pathogenic
Select item 152937	GRCh38/hg38 1p36.22-36.21(chr1:10264397-15780840)x1	AADACL3, AADACL4 +304 more	Copy number loss	See cases	GPathogenic
Select item 153433	GRCh38/hg38 1p36.22(chr1:10317912-11018880)x4	C1orf127, CASZ1 +48 more	Copy number gain	See cases	GUncertain significance
Select item 2335172	NM_002631.4(PGD):c.109T>C (p.Ser37Pro)	PGD (S37P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211783	NM_002631.4(PGD):c.250T>G (p.Phe84Val)	PGD (F71V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395006	NM_002631.4(PGD):c.261A>T (p.Lys87Asn)	PGD (K87N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334063	NM_002631.4(PGD):c.419C>T (p.Ser140Leu)	PGD (S127L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543757	NM_002631.4(PGD):c.473A>C (p.Gln158Pro)	PGD (Q145P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211784	NM_002631.4(PGD):c.487A>G (p.Lys163Glu)	PGD (K141E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3064063	NM_002631.4(PGD):c.547G>A (p.Val183Met)	PGD (V161M +2 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 2210264	NM_002631.4(PGD):c.697A>G (p.Ile233Val)	PGD (I220V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 716657	NM_002631.4(PGD):c.735C>T (p.Thr245=)	PGD	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2551322	NM_002631.4(PGD):c.805A>G (p.Ile269Val)	PGD (I247V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211785	NM_002631.4(PGD):c.822C>T (p.Tyr274=)	PGD	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2486371	NM_002631.4(PGD):c.901A>G (p.Ser301Gly)	PGD (S288G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 734224	NM_002631.4(PGD):c.984C>T (p.Tyr328=)	PGD	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3211778	NM_002631.4(PGD):c.1042G>A (p.Glu348Lys)	PGD (E348K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272778	NM_002631.4(PGD):c.1052G>C (p.Trp351Ser)	PGD (W338S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211779	NM_002631.4(PGD):c.1061A>G (p.Asn354Ser)	PGD (N341S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377152	NM_002631.4(PGD):c.1083G>A (p.Met361Ile)	PGD (M361I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616070	NM_002631.4(PGD):c.1094G>A (p.Gly365Asp)	PGD (G365D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298575	NM_002631.4(PGD):c.1104T>G (p.Ile368Met)	PGD (I346M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523043	NM_002631.4(PGD):c.1111G>C (p.Val371Leu)	PGD (V349L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211780	NM_002631.4(PGD):c.1124A>G (p.Lys375Arg)	PGD (K353R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310041	NM_002631.4(PGD):c.1128A>G (p.Ile376Met)	PGD (I363M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211781	NM_002631.4(PGD):c.1228G>A (p.Val410Ile)	PGD (V388I +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3211782	NM_002631.4(PGD):c.1289A>G (p.Tyr430Cys)	PGD (Y430C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532497	NM_002631.4(PGD):c.1374G>T (p.Leu458Phe)	PGD (L436F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251791	NM_002631.4(PGD):c.1381C>T (p.Pro461Ser)	PGD (P461S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063399	GRCh37/hg19 1p36.31-36.21(chr1:6330828-12910774)x1	AADACL3, AADACL4 +80 more	Copy number loss	not specified	GPathogenic
Select item 2446820	NC_000001.10:g.4481271_20530242del	NOL9, TNFRSF1B +184 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 2426061	NC_000001.10:g.(?_9304994)_(12569078_?)dup	VPS13D, AGTRAP +44 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2425278	NC_000001.10:g.(?_9770514)_(11264780_?)del	ANGPTL7, C1orf127 +20 more	Deletion	Immunodeficiency 14	GUncertain significance
Select item 1808934	GRCh37/hg19 1p36.31-36.13(chr1:6758933-19287770)x1	AADACL3, AADACL4 +143 more	Copy number loss	not provided	GPathogenic
Select item 1808634	GRCh37/hg19 1p36.33-36.22(chr1:849467-12448956)x1	ACAP3, ACOT7 +159 more	Copy number loss	not provided	GPathogenic
Select item 1444512	NC_000001.10:g.(?_10394568)_(10566215_?)del	CENPS, CENPS-CORT +5 more	Deletion	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1340028	GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1	AJAP1, KAZN +228 more	Copy number loss	not provided	GPathogenic
Select item 831335	NC_000001.10:g.(?_9770494)_(10690064_?)del	PIK3CD, RBP7 +12 more	Deletion	Immunodeficiency 14	GUncertain significance
Select item 814053	GRCh37/hg19 1p36.22(chr1:9852396-11909475)x1	TARDBP, RBP7 +31 more	Copy number loss	not provided	GLikely pathogenic
Select item 685664	GRCh37/hg19 1p36.22-36.21(chr1:10246640-12841900)x1	AADACL3, AADACL4 +38 more	Copy number loss	not provided	GUncertain significance
Select item 638124	GRCh37/hg19 1p36.33-36.22(chr1:82154-11784118)x1	ACAP3, ACOT7 +148 more	Copy number loss	See cases	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 441913	GRCh37/hg19 1p36.23-36.13(chr1:8850514-16272383)x1	AADACL3, AADACL4 +97 more	Copy number loss	See cases	GLikely pathogenic
Select item 395144	GRCh37/hg19 1p36.32-36.21(chr1:4558588-13187457)x1	AADACL3, AADACL4 +96 more	Copy number loss	See cases	GPathogenic
Select item 253459	GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1	CCNL2, CDK11A +188 more	Copy number loss	See cases	GPathogenic
Select item 253358	GRCh37/hg19 1p36.23-36.21(chr1:8255222-12785220)x3	AGTRAP, DISP3 +56 more	Copy number gain	See cases	GLikely pathogenic
Select item 252976	GRCh37/hg19 1p36.33-36.22(chr1:82154-12699337)x1	ACAP3, ACOT7 +162 more	Copy number loss	See cases	GPathogenic
Select item 221357	chr1:909238-16736132 complex variant	RER1, RERE +212 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 221334	Single allele	IGSF21, IL22RA1 +314 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 66