PMF1-BGLAP[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 151159	GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3	ADAM15, ADAM15-EFNA4 +297 more	Copy number gain	See cases	GPathogenic
Select item 149955	GRCh38/hg38 1q22(chr1:155834419-156434205)x3	ARHGEF2, ARHGEF2-AS2 +90 more	Copy number gain	See cases	GUncertain significance
Select item 665025	NC_000001.11:g.(?_156114919)_(156243162_?)del	BGLAP, LMNA +23 more	Deletion	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 2374411	NM_007221.4(PMF1):c.142A>C (p.Lys48Gln)	LOC129931608, PMF1 +1 more (K48Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620381	NM_007221.4(PMF1):c.162-6741G>A	PMF1, PMF1-BGLAP (G62R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304820	NM_007221.4(PMF1):c.162-6726C>T	PMF1, PMF1-BGLAP (R67C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384307	NM_007221.4(PMF1):c.162-6707A>G	PMF1, PMF1-BGLAP (Q73R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253496	NM_007221.4(PMF1):c.162-6680C>T	PMF1, PMF1-BGLAP (A82V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3308030	NM_007221.4(PMF1):c.162-6677C>T	PMF1, PMF1-BGLAP (A83V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544163	NM_007221.4(PMF1):c.260C>A (p.Ser87Tyr)	PMF1, PMF1-BGLAP (S87Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487545	NM_007221.4(PMF1):c.379G>A (p.Gly127Arg)	PMF1, PMF1-BGLAP (G127R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490408	NM_007221.4(PMF1):c.507G>C (p.Gly169=)	PMF1, PMF1-BGLAP (G148A +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2522987	NM_007221.4(PMF1):c.508C>T (p.Arg170Trp)	PMF1, PMF1-BGLAP (R169W +5 more)	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3308031	NM_007221.4(PMF1):c.571C>T (p.His191Tyr)	PMF1, PMF1-BGLAP (H137Y +5 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 3308029	NM_007221.4(PMF1):c.610C>T (p.Pro204Ser)	PMF1, PMF1-BGLAP (P150S +5 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2639450	NM_199173.6(BGLAP):c.51C>T (p.Ile17=)	BGLAP, PMF1-BGLAP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3133792	NM_199173.6(BGLAP):c.68C>T (p.Ala23Val)	BGLAP, PMF1-BGLAP (A23V +2 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 3133793	NM_199173.6(BGLAP):c.79G>A (p.Gly27Ser)	BGLAP, PMF1-BGLAP (R128Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312765	NM_199173.6(BGLAP):c.89C>A (p.Ser30Tyr)	BGLAP, PMF1-BGLAP (S30Y +2 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 3215801	NM_199173.6(BGLAP):c.156C>G (p.Tyr52Ter)	BGLAP, PMF1-BGLAP (P199A +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2238715	NM_199173.6(BGLAP):c.165A>G (p.Gln55=)	BGLAP, PMF1-BGLAP (M202V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3133791	NM_199173.6(BGLAP):c.178C>T (p.Pro60Ser)	BGLAP, PMF1-BGLAP (P60S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620346	NM_199173.6(BGLAP):c.261C>G (p.Ile87Met)	BGLAP, PMF1-BGLAP (I87M)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2306547	NM_199173.6(BGLAP):c.262G>A (p.Gly88Ser)	BGLAP, PMF1-BGLAP (G88S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2205587	NM_199173.6(BGLAP):c.280C>T (p.Arg94Trp)	BGLAP, PMF1-BGLAP (R94W)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 780264	NM_199173.6(BGLAP):c.281G>A (p.Arg94Gln)	BGLAP, PMF1-BGLAP (R94Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2374800	NM_199173.6(BGLAP):c.292G>A (p.Gly98Ser)	BGLAP, PMF1-BGLAP (G98S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3242278	GRCh37/hg19 1q22-23.2(chr1:155709113-159191078)x3	ACKR1, AIM2 +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3063199	GRCh37/hg19 1q21.3-23.1(chr1:154302443-156868186)x1	ADAM15, ADAR +85 more	Copy number loss	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 3062600	GRCh37/hg19 1q22(chr1:155902621-156207096)x3	ARHGEF2, KHDC4 +11 more	Copy number gain	not specified	GUncertain significance
Select item 2685831	GRCh37/hg19 1q22(chr1:155864518-156213257)x3	ARHGEF2, BGLAP +14 more	Copy number gain	not provided	GUncertain significance
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 1808454	GRCh37/hg19 1q22(chr1:155489474-156196407)x3	ARHGEF2, ASH1L +18 more	Copy number gain	not provided	GUncertain significance
Select item 1527315	GRCh37/hg19 1q22(chr1:156034721-156240338)	BGLAP, SEMA4A +8 more	Copy number gain	not specified	GUncertain significance
Select item 1527304	GRCh37/hg19 1q22(chr1:155902781-156210031)	PMF1-BGLAP, SLC25A44 +11 more	Copy number gain	not specified	GUncertain significance
Select item 1460461	NC_000001.10:g.(?_155581953)_(156851434_?)del	CRABP2, DAP3 +45 more	Deletion	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 1450274	NC_000001.10:g.(?_154141761)_(156851434_?)dup	MUC1, PMVK +90 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	ATP8B2, KCNN3 +228 more	Duplication	MHC class II deficiency +3 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	ATP8B2, AVPR1B +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 688120	GRCh37/hg19 1q22-23.1(chr1:155770505-156652136)x3	ARHGEF2, BCAN +33 more	Copy number gain	not provided	GUncertain significance
Select item 685546	GRCh37/hg19 1q22(chr1:156037369-156463980)x3	BGLAP, CCT3 +17 more	Copy number gain	not provided	GUncertain significance
Select item 617477	LMNA-NTRK1 fusion	NES, NTRK1 +31 more	Fusion	Congenital fibrosarcoma	GPathogenic
Select item 565184	GRCh37/hg19 1q22-23.1(chr1:155999570-156844432)x3	BCAN, BGLAP +35 more	Copy number gain	not provided	GUncertain significance
Select item 565183	GRCh37/hg19 1q22-23.1(chr1:155636337-158024499)x1	ARHGEF11, ARHGEF2 +57 more	Copy number loss	not provided	GPathogenic
Select item 503582	GRCh37/hg19 1q22(chr1:156070888-156238593)x1	SMG5, BGLAP +6 more	Copy number loss	See cases	GPathogenic
Select item 495229	Single allele	BGLAP, C1orf43 +90 more	Inversion	Pediatric metastatic thyroid tumour	GLikely pathogenic
Select item 493594	GRCh37/hg19 1q21.3-23.1(chr1:153751465-156660462)x3	ADAR, PYGO2 +91 more	Copy number gain	not provided	GLikely pathogenic
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

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Items: 52