ClinVar for Gene (Select 2145) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3381297	NM_001991.5(EZH1):c.1045A>G (p.Met349Val)	EZH1 (M309V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3375866	NM_001991.5(EZH1):c.976A>G (p.Ile326Val)	EZH1 (I286V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373488	NM_001991.5(EZH1):c.1120A>G (p.Asn374Asp)	EZH1 (N334D +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372655	NM_001991.5(EZH1):c.835G>A (p.Gly279Ser)	EZH1 (G239S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368753	NM_001991.5(EZH1):c.1361G>A (p.Cys454Tyr)	EZH1 (C414Y +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365008	NM_001991.5(EZH1):c.158C>A (p.Thr53Asn)	EZH1 (T53N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342885	NM_001991.5(EZH1):c.758T>C (p.Met253Thr)	EZH1 (M213T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3276913	NM_001991.5(EZH1):c.1127C>T (p.Ser376Leu)	EZH1 (S336L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276911	NM_001991.5(EZH1):c.1588C>T (p.Pro530Ser)	EZH1 (P536S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276910	NM_001991.5(EZH1):c.689A>C (p.Gln230Pro)	EZH1 (Q236P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3091365	NM_001991.5(EZH1):c.803C>G (p.Ala268Gly)	EZH1 (A259G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091364	NM_001991.5(EZH1):c.683A>G (p.Lys228Arg)	EZH1 (K219R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091363	NM_001991.5(EZH1):c.650G>A (p.Arg217Gln)	EZH1 (R217Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091361	NM_001991.5(EZH1):c.492G>A (p.Met164Ile)	EZH1 (M124I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091360	NM_001991.5(EZH1):c.455A>G (p.Asn152Ser)	EZH1 (N158S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091359	NM_001991.5(EZH1):c.211A>T (p.Met71Leu)	EZH1 (M77L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091358	NM_001991.5(EZH1):c.121T>G (p.Leu41Val)	EZH1 (L41V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091357	NM_001991.5(EZH1):c.1105A>G (p.Ser369Gly)	EZH1 (S360G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2662952	NM_001991.5(EZH1):c.899G>A (p.Arg300Gln)	EZH1 (R260Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2570600	NM_001991.5:c.(664+1_665-1)_(1401+1_1402-1)del	EZH1	Deletion	EZH1-neurodevelopmental syndrome	GLikely pathogenic
Select item 2570599	NM_001991.5(EZH1):c.932-1G>A	EZH1	Single nucleotide variant (splice acceptor variant)	EZH1-neurodevelopmental syndrome	GLikely pathogenic
Select item 2570598	NM_001991.5(EZH1):c.1453G>T (p.Glu485Ter)	EZH1 (E491* +3 more)	Single nucleotide variant (nonsense)	not provided +1 more	GLikely pathogenic
Select item 2570597	NM_001991.5(EZH1):c.2203C>T (p.Leu735Phe)	EZH1 (L726F +3 more)	Single nucleotide variant (missense variant)	EZH1-neurodevelopmental syndrome +1 more	GUncertain significance
Select item 2570596	NM_001991.5(EZH1):c.2191C>G (p.Gln731Glu)	EZH1 (Q722E +3 more)	Single nucleotide variant (missense variant)	EZH1-neurodevelopmental syndrome	GLikely pathogenic
Select item 2531017	NM_001991.5(EZH1):c.269C>T (p.Pro90Leu)	EZH1 (P96L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525616	NM_001991.5(EZH1):c.541G>A (p.Asp181Asn)	EZH1 (D141N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403121	NM_001991.5(EZH1):c.584A>G (p.Asn195Ser)	EZH1 (N155S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377229	NM_001991.5(EZH1):c.211A>G (p.Met71Val)	EZH1 (M77V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339995	NM_001991.5(EZH1):c.1285T>C (p.Ser429Pro)	EZH1 (S420P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284529	NM_001991.5(EZH1):c.380C>T (p.Thr127Met)	EZH1 (T87M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261664	NM_001991.5(EZH1):c.26C>T (p.Ser9Phe)	EZH1 (S15F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 977755	NM_001991.5(EZH1):c.2033C>G (p.Ala678Gly)	EZH1 (A638G +3 more)	Single nucleotide variant (missense variant)	EZH1-neurodevelopmental syndrome	GLikely pathogenic
Select item 828189	NM_001991.5(EZH1):c.1217G>A (p.Arg406His)	EZH1 (R412H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 39