3631[HGNC] - ClinVar

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Items: 44

	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 151444	GRCh38/hg38 1q21.3-22(chr1:155006546-155464263)x3	ADAM15, ADAM15-EFNA4 +67 more	Copy number gain	See cases	GUncertain significance
Select item 57458	GRCh38/hg38 1q22(chr1:155182457-155787428)x3	ASH1L, ASH1L-AS1 +45 more	Copy number gain	See cases	GUncertain significance
Select item 659608	NC_000001.11:g.(?_155282411)_(155323834_?)del	FDPS, HCN3 +10 more	Deletion	not provided	GPathogenic
Select item 2326500	NM_002004.4(FDPS):c.47C>T (p.Pro16Leu)	FDPS (P16L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3094320	NM_002004.4(FDPS):c.106G>A (p.Val36Met)	FDPS (V36M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3042548	NM_002004.4(FDPS):c.142C>T (p.Arg48Cys)	FDPS (R48C)	Single nucleotide variant (missense variant +1 more)	FDPS-related disorder	GBenign
Select item 2509159	NM_002004.4(FDPS):c.151T>G (p.Cys51Gly)	FDPS (C51G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3041400	NM_002004.4(FDPS):c.189C>T (p.Ser63=)	FDPS	Single nucleotide variant (synonymous variant +2 more)	FDPS-related disorder	GBenign
Select item 2241613	NM_002004.4(FDPS):c.240G>C (p.Lys80Asn)	FDPS (K80N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 753832	NM_002004.4(FDPS):c.249C>T (p.Phe83=)	FDPS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2470755	NM_002004.4(FDPS):c.270C>G (p.Ile90Met)	FDPS (I90M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3094321	NM_002004.4(FDPS):c.311T>C (p.Ile104Thr)	FDPS (I104T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3033559	NM_002004.4(FDPS):c.359T>C (p.Ile120Thr)	FDPS (I120T +1 more)	Single nucleotide variant (missense variant +1 more)	FDPS-related disorder	GBenign
Select item 217747	NM_002004.4(FDPS):c.481-1776_847-143del	FDPS, RUSC1-AS1	Deletion (splice acceptor variant +2 more)	Porokeratosis 9, multiple types	GPathogenic
Select item 217746	NM_002004.4(FDPS):c.536G>A (p.Arg179Gln)	FDPS, RUSC1-AS1 (R113Q +2 more)	Single nucleotide variant (missense variant +1 more)	Porokeratosis 9, multiple types	GPathogenic
Select item 3094322	NM_002004.4(FDPS):c.583A>G (p.Ile195Val)	FDPS, RUSC1-AS1 (I24V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300803	NM_002004.4(FDPS):c.587A>G (p.Asn196Ser)	FDPS, RUSC1-AS1 (N196S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617445	NM_002004.4(FDPS):c.650C>A (p.Pro217His)	FDPS, RUSC1-AS1 (P151H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3031303	NM_002004.4(FDPS):c.657C>T (p.Tyr219=)	FDPS, RUSC1-AS1	Single nucleotide variant (synonymous variant)	FDPS-related disorder	GLikely benign
Select item 3094324	NM_002004.4(FDPS):c.673C>G (p.Leu225Val)	FDPS, RUSC1-AS1 (L225V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 217748	NM_002004.4(FDPS):c.684+1G>A	FDPS, RUSC1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Porokeratosis 9, multiple types	GPathogenic
Select item 835300	NM_002004.4(FDPS):c.684+2T>G	FDPS, RUSC1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 2337676	NM_002004.4(FDPS):c.742A>C (p.Asn248His)	FDPS, RUSC1-AS1 (N182H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058163	NM_002004.4(FDPS):c.849A>G (p.Ala283=)	FDPS, RUSC1-AS1	Single nucleotide variant (synonymous variant)	FDPS-related disorder	GLikely benign
Select item 2234349	NM_002004.4(FDPS):c.869A>C (p.Glu290Ala)	FDPS, RUSC1-AS1 (E119A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094325	NM_002004.4(FDPS):c.919A>G (p.Ile307Val)	FDPS, RUSC1-AS1 (I136V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094326	NM_002004.4(FDPS):c.986A>C (p.Gln329Pro)	FDPS, RUSC1-AS1 (Q158P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553292	NM_002004.4(FDPS):c.1000A>G (p.Ser334Gly)	FDPS, RUSC1-AS1 (S268G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486601	NM_002004.4(FDPS):c.1046A>C (p.Tyr349Ser)	FDPS, RUSC1-AS1 (Y349S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 684523	NM_002004.4(FDPS):c.1091T>C (p.Val364Ala)	FDPS, RUSC1-AS1 (V193A +2 more)	Single nucleotide variant (missense variant +1 more)	FDPS-related disorder	GBenign
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 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 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	ADAR, ANP32E +228 more	Duplication	Congenital neutropenia-myelofibrosis-nephromegaly syndrome +3 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	CA14, CACNA1E +956 more	Duplication	Gastrointestinal stromal tumor +2 more	GUncertain significance
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
Select item 394735	GRCh37/hg19 1q22(chr1:155282294-155383478)x1	ASH1L, FDPS +2 more	Copy number loss	See cases	GUncertain significance

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Items: 44