ClinVar for Gene (Select 6635) - ClinVar

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Links from Gene

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3066048	NM_003094.4(SNRPE):c.221T>C (p.Leu74Pro)	SNRPE (L74P +3 more)	Single nucleotide variant (missense variant +1 more)	Hypotrichosis 11	GPathogenic
Select item 3066047	NM_003094.4(SNRPE):c.54+2T>A	LOC112577531, SNRPE	Single nucleotide variant (5 prime UTR variant +2 more)	Hypotrichosis 11	GPathogenic
Select item 3062955	GRCh37/hg19 1q32.1(chr1:199373229-204335027)x3	ADIPOR1, ADORA1 +58 more	Copy number gain	not specified	GLikely pathogenic
Select item 3057620	NM_003094.4(SNRPE):c.-3A>G	LOC112577531, SNRPE	Single nucleotide variant (5 prime UTR variant +1 more)	SNRPE-related disorder	GLikely benign
Select item 3049523	NM_003094.4(SNRPE):c.54+223A>G	SNRPE (K8R)	Single nucleotide variant (synonymous variant +2 more)	SNRPE-related disorder	GBenign
Select item 3038971	NM_003094.4(SNRPE):c.54+219C>T	SNRPE (A4V +1 more)	Single nucleotide variant (missense variant +2 more)	SNRPE-related disorder	GLikely benign
Select item 3033230	NM_003094.4(SNRPE):c.54+10G>A	LOC112577531, SNRPE	Single nucleotide variant (5 prime UTR variant +2 more)	SNRPE-related disorder	GLikely benign
Select item 2893866	NM_003094.4(SNRPE):c.14G>C (p.Gly5Ala)	LOC112577531, SNRPE (G5A)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2810981	NM_003094.4(SNRPE):c.135C>A (p.Gly45=)	SNRPE	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2617706	NM_003094.4(SNRPE):c.125G>A (p.Arg42Gln)	SNRPE (R29Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2425293	NC_000001.10:g.(?_200522516)_(206945780_?)dup	ADIPOR1, ADORA1 +90 more	Duplication	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 2422293	NC_000001.10:g.(?_200522516)_(208391267_?)dup	C4BPA, FMOD +110 more	Duplication	not provided	GUncertain significance
Select item 2404016	NM_003094.4(SNRPE):c.119A>C (p.Asn40Thr)	SNRPE (N38T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1941300	NM_003094.4(SNRPE):c.144+11A>G	SNRPE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	IGFN1, IKBKE +211 more	Copy number gain	not provided	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	ABCB10, ACBD3 +381 more	Copy number gain	See cases	GPathogenic
Select item 1507008	NM_003094.4(SNRPE):c.1A>T (p.Met1Leu)	LOC112577531, SNRPE (M1L)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	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 972964	GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3	CSRP1, PPFIA4 +145 more	Copy number gain	not provided	Gnot provided
Select item 687955	GRCh37/hg19 1q32.1(chr1:203658206-203938853)x3	ATP2B4, LAX1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	CAPN9, CATSPERE +433 more	Copy number gain	not provided	GPathogenic
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 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	EGLN1, EIF2D +393 more	Copy number gain	See cases	GPathogenic
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	PIK3C2B, PKP1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 39506	NM_003094.4(SNRPE):c.133G>A (p.Gly45Ser)	SNRPE (G45S +3 more)	Single nucleotide variant (missense variant +1 more)	Hypotrichosis 11	GPathogenic
Select item 39505	NM_003094.4(SNRPE):c.1A>G (p.Met1Val)	LOC112577531, SNRPE (M1V)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided +1 more	GPathogenic/Likely pathogenic

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Links from Gene

Items: 28