KATNA1[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997469, LOC129997470 +1002 more	Copy number gain	See cases	GPathogenic
Select item 147665	GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3	LOC132089359, LOC132089360 +614 more	Copy number gain	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	ACAT2, ADAT2 +865 more	Copy number gain	See cases	GPathogenic
Select item 58452	GRCh38/hg38 6q24.2-25.2(chr6:144932561-152985364)x1	ADGB, ADGB-DT +227 more	Copy number loss	See cases	GPathogenic
Select item 57320	GRCh38/hg38 6q24.3-25.1(chr6:146481119-151427629)x1	ADGB, ADGB-DT +172 more	Copy number loss	See cases	GPathogenic
Select item 149317	GRCh38/hg38 6q24.3-25.1(chr6:147580351-150227963)x3	GINM1, KATNA1 +107 more	Copy number gain	See cases	GUncertain significance
Select item 146082	GRCh38/hg38 6q24.3-25.1(chr6:147805119-150893715)x1	GINM1, IYD +131 more	Copy number loss	See cases	GPathogenic
Select item 147845	GRCh38/hg38 6q24.3-25.1(chr6:148112335-149649984)x1	GINM1, KATNA1 +69 more	Copy number loss	See cases	GPathogenic
Select item 2329551	NM_007044.4(KATNA1):c.1458T>G (p.Phe486Leu)	KATNA1 (F486L)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2321261	NM_007044.4(KATNA1):c.1131C>G (p.Ile377Met)	KATNA1 (I301M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2409569	NM_007044.4(KATNA1):c.872G>A (p.Arg291His)	KATNA1 (R291H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360599	NM_007044.4(KATNA1):c.791C>T (p.Thr264Ile)	KATNA1 (T264I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2557765	NM_007044.4(KATNA1):c.655A>C (p.Lys219Gln)	KATNA1 (K219Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2553841	NM_007044.4(KATNA1):c.550A>G (p.Ser184Gly)	KATNA1 (S184G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2597864	NM_007044.4(KATNA1):c.515C>T (p.Ala172Val)	KATNA1 (A172V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2261673	NM_007044.4(KATNA1):c.436A>G (p.Asn146Asp)	KATNA1 (N146D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220835	NM_007044.4(KATNA1):c.383A>G (p.Asn128Ser)	KATNA1 (N128S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471941	NM_007044.4(KATNA1):c.319A>G (p.Arg107Gly)	KATNA1 (R107G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2352982	NM_007044.4(KATNA1):c.254C>T (p.Ala85Val)	KATNA1 (A85V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480151	NM_007044.4(KATNA1):c.253G>C (p.Ala85Pro)	KATNA1 (A85P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541596	NM_007044.4(KATNA1):c.71C>T (p.Ser24Phe)	KATNA1 (S24F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551791	NM_007044.4(KATNA1):c.65A>G (p.Tyr22Cys)	KATNA1 (Y22C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365917	NM_007044.4(KATNA1):c.41G>A (p.Arg14His)	KATNA1 (R14H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 814879	GRCh37/hg19 6q25.1-25.2(chr6:149431322-154120064)x1	AKAP12, ARMT1 +31 more	Copy number loss	not provided	GPathogenic
Select item 685788	GRCh37/hg19 6q24.3-25.3(chr6:148195086-160127254)x3	AKAP12, ARID1B +58 more	Copy number gain	not provided	GPathogenic
Select item 638121	GRCh37/hg19 6q24.3-25.1(chr6:148690764-150494873)x1	GINM1, KATNA1 +17 more	Copy number loss	See cases	GPathogenic
Select item 563240	GRCh37/hg19 6q24.2-25.1(chr6:144947731-150266155)x1	ADGB, EPM2A +22 more	Copy number loss	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic
Select item 442634	GRCh37/hg19 6q24.3-25.1(chr6:148364229-149928368)x1	GINM1, KATNA1 +6 more	Copy number loss	See cases	GLikely pathogenic
Select item 442470	GRCh37/hg19 6q24.1-25.1(chr6:139513020-150389231)x1	ADAT2, ADGB +42 more	Copy number loss	See cases	GPathogenic
Select item 394905	GRCh37/hg19 6q24.2-25.1(chr6:144075695-152337005)x1	ADGB, AKAP12 +42 more	Copy number loss	See cases	GPathogenic

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Items: 33