22806[geneid] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	LOC112533659, LOC112533660 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	AARSD1, AATF +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	AARSD1, ACBD4 +633 more	Copy number gain	See cases	GPathogenic
Select item 1677417	NM_012481.5(IKZF3):c.1487C>G (p.Ser496Trp)	IKZF3 (S249W +12 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688057	NM_012481.5(IKZF3):c.1314C>T (p.Ser438=)	IKZF3	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 2267516	NM_012481.5(IKZF3):c.1297A>G (p.Ile433Val)	IKZF3 (I251V +12 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2614318	NM_012481.5(IKZF3):c.1282C>T (p.Leu428Phe)	IKZF3 (L181F +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2576052	NM_012481.5(IKZF3):c.1278A>T (p.Glu426Asp)	IKZF3 (E179D +12 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2262930	NM_012481.5(IKZF3):c.1187G>A (p.Arg396His)	IKZF3 (R262H +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233752	NM_012481.5(IKZF3):c.1148G>C (p.Gly383Ala)	IKZF3 (G136A +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109035	NM_012481.5(IKZF3):c.1078G>A (p.Glu360Lys)	IKZF3 (E326K +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109034	NM_012481.5(IKZF3):c.1075C>G (p.Leu359Val)	IKZF3 (L281V +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109032	NM_012481.5(IKZF3):c.1043G>A (p.Arg348Gln)	IKZF3 (R127Q +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2431805	NM_012481.5(IKZF3):c.982C>T (p.Pro328Ser)	IKZF3 (P107S +12 more)	Single nucleotide variant (missense variant)	Immunodeficiency 84	GUncertain significance
Select item 718369	NM_012481.5(IKZF3):c.951C>T (p.Ala317=)	IKZF3	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2299419	NM_012481.5(IKZF3):c.909G>T (p.Met303Ile)	IKZF3 (M225I +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286141	NM_012481.5(IKZF3):c.836G>A (p.Arg279His)	IKZF3 (R240H +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376724	NM_012481.5(IKZF3):c.673C>T (p.Arg225Cys)	IKZF3 (R191C +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2487399	NM_012481.5(IKZF3):c.662A>G (p.Lys221Arg)	IKZF3 (K134R +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1184728	NM_012481.5(IKZF3):c.475G>C (p.Gly159Arg)	IKZF3 (G159R +2 more)	Single nucleotide variant (missense variant +2 more)	Immunodeficiency 84	GPathogenic
Select item 2431586	NM_012481.5(IKZF3):c.470A>G (p.Gln157Arg)	IKZF3 (Q123R +2 more)	Single nucleotide variant (missense variant +2 more)	Immunodeficiency 84	GUncertain significance
Select item 2252350	NM_012481.5(IKZF3):c.413G>A (p.Arg138Gln)	IKZF3 (R138Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2313978	NM_012481.5(IKZF3):c.316G>A (p.Val106Ile)	IKZF3 (V106I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2469536	NM_012481.5(IKZF3):c.296T>A (p.Ile99Asn)	IKZF3 (I99N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2330089	NM_012481.5(IKZF3):c.276A>C (p.Glu92Asp)	IKZF3 (E92D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3109037	NM_012481.5(IKZF3):c.244G>A (p.Glu82Lys)	IKZF3, LOC130060781 (E48K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3068437	NM_012481.5(IKZF3):c.229A>T (p.Met77Leu)	IKZF3, LOC130060781 (M43L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2287727	NM_012481.5(IKZF3):c.229A>G (p.Met77Val)	IKZF3, LOC130060781 (M77V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2556166	NM_012481.5(IKZF3):c.227C>T (p.Pro76Leu)	IKZF3, LOC130060781 (P42L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3109036	NM_012481.5(IKZF3):c.157A>G (p.Ile53Val)	IKZF3 (I53V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3109033	NM_012481.5(IKZF3):c.104A>G (p.His35Arg)	IKZF3 (H35R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2469548	NM_012481.5(IKZF3):c.73G>C (p.Val25Leu)	IKZF3 (V25L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2647726	NM_012481.5(IKZF3):c.72G>A (p.Ala24=)	IKZF3	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2647727	NM_012481.5(IKZF3):c.71C>T (p.Ala24Val)	IKZF3 (A24V)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2688020	NM_012481.5(IKZF3):c.62-60T>C	IKZF3	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688021	NM_012481.5(IKZF3):c.-40A>G	IKZF3	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 2424720	NC_000017.10:g.(?_37821613)_(38458253_?)dup	CASC3, CDC6 +20 more	Duplication	Hypertrophic cardiomyopathy 25 +1 more	GUncertain significance
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 564444	GRCh37/hg19 17q12(chr17:36972794-38033708)x4	STARD3, CDK12 +22 more	Copy number gain	not provided	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic

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Items: 41