3526[HGNC] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 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 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 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 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 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 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 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 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 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 2570599	NM_001991.5(EZH1):c.932-1G>A	EZH1	Single nucleotide variant (splice acceptor variant)	EZH1-neurodevelopmental syndrome	GLikely pathogenic
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 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 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 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 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 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 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 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 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 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 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 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 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 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 2570600	NM_001991.5:c.(664+1_665-1)_(1401+1_1402-1)del	EZH1	Deletion	EZH1-neurodevelopmental syndrome	GLikely pathogenic

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Items: 31