ClinVar for Gene (Select 10300) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3364238	NM_005886.3(KATNB1):c.829G>A (p.Asp277Asn)	KATNB1 (D277N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3336384	NM_005886.3(KATNB1):c.1881C>T (p.Ser627=)	KATNB1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3336383	NM_005886.3(KATNB1):c.*5A>C	KATNB1	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 3287413	NM_005886.3(KATNB1):c.1100G>A (p.Arg367Gln)	KATNB1 (R367Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3287412	NM_005886.3(KATNB1):c.1111G>A (p.Glu371Lys)	KATNB1 (E371K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3255478	NC_000016.9:g.(?_48799549)_(70756330_?)dup	PRMT7, PRSS54 +195 more	Duplication	Chromosome 16q12 duplication syndrome	GLikely pathogenic
Select item 3236752	NM_005886.3(KATNB1):c.1567-3C>G	KATNB1	Single nucleotide variant (intron variant)	Lissencephaly 6 with microcephaly	GUncertain significance
Select item 3236076	NM_005886.3(KATNB1):c.134T>C (p.Val45Ala)	KATNB1 (V45A)	Single nucleotide variant (missense variant)	Lissencephaly 6 with microcephaly	GUncertain significance
Select item 3112825	NM_005886.3(KATNB1):c.977T>A (p.Leu326Gln)	KATNB1 (L326Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3112824	NM_005886.3(KATNB1):c.971A>G (p.Gln324Arg)	KATNB1 (Q324R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3112823	NM_005886.3(KATNB1):c.938G>A (p.Arg313Gln)	KATNB1 (R313Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3112822	NM_005886.3(KATNB1):c.937C>T (p.Arg313Trp)	KATNB1 (R313W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3112821	NM_005886.3(KATNB1):c.910C>A (p.Arg304Ser)	KATNB1 (R304S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3112819	NM_005886.3(KATNB1):c.138C>G (p.Asn46Lys)	KATNB1 (N46K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3112818	NM_005886.3(KATNB1):c.1211C>T (p.Pro404Leu)	KATNB1 (P404L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3112817	NM_005886.3(KATNB1):c.1138G>A (p.Glu380Lys)	KATNB1 (E380K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3112816	NM_005886.3(KATNB1):c.1135G>A (p.Ala379Thr)	KATNB1 (A379T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3112815	NM_005886.3(KATNB1):c.1118G>A (p.Arg373His)	KATNB1 (R373H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063467	GRCh37/hg19 16q12.2-22.1(chr16:55329260-67180113)x1	ADGRG1, ADGRG3 +85 more	Copy number loss	not specified	GPathogenic
Select item 3048322	NM_005886.3(KATNB1):c.1718+4C>T	KATNB1	Single nucleotide variant (intron variant)	KATNB1-related disorder	GLikely benign
Select item 3046954	NM_005886.3(KATNB1):c.391-6C>A	KATNB1	Single nucleotide variant (intron variant)	KATNB1-related disorder	GLikely benign
Select item 3034786	NM_005886.3(KATNB1):c.958C>A (p.Arg320=)	KATNB1	Single nucleotide variant (synonymous variant)	KATNB1-related disorder	GLikely benign
Select item 3033359	NM_005886.3(KATNB1):c.600C>T (p.Asn200=)	KATNB1	Single nucleotide variant (synonymous variant)	KATNB1-related disorder	GLikely benign
Select item 3031723	NM_005886.3(KATNB1):c.1228+8G>T	KATNB1	Single nucleotide variant (intron variant)	KATNB1-related disorder	GLikely benign
Select item 3029873	NM_005886.3(KATNB1):c.1356T>C (p.Pro452=)	KATNB1	Single nucleotide variant (synonymous variant)	KATNB1-related disorder	GLikely benign
Select item 3020342	NM_005886.3(KATNB1):c.1329T>C (p.Ala443=)	KATNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009682	NM_005886.3(KATNB1):c.171+25dup	KATNB1	Duplication (intron variant)	not provided	GBenign
Select item 3009407	NM_005886.3(KATNB1):c.1089C>T (p.Ser363=)	KATNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969274	NM_005886.3(KATNB1):c.1935C>T (p.Arg645=)	KATNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966002	NM_005886.3(KATNB1):c.1046+17C>T	KATNB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962781	NM_005886.3(KATNB1):c.290-17G>T	KATNB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961808	NM_005886.3(KATNB1):c.1419C>T (p.Ala473=)	KATNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2960606	NM_005886.3(KATNB1):c.390+11G>A	KATNB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2955309	NM_005886.3(KATNB1):c.1177+9G>A	KATNB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2914506	NM_005886.3(KATNB1):c.1303G>A (p.Val435Ile)	KATNB1 (V435I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2912532	NM_005886.3(KATNB1):c.345G>A (p.Pro115=)	KATNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2902073	NM_005886.3(KATNB1):c.51C>T (p.Val17=)	KATNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2901992	NM_005886.3(KATNB1):c.534C>T (p.Ala178=)	KATNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2899772	NM_005886.3(KATNB1):c.1389C>T (p.Ile463=)	KATNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2899710	NM_005886.3(KATNB1):c.96C>T (p.Ser32=)	KATNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2840534	NM_005886.3(KATNB1):c.426A>C (p.Arg142=)	KATNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2791441	NM_005886.3(KATNB1):c.289+17G>C	KATNB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2778288	NM_005886.3(KATNB1):c.939G>C (p.Arg313=)	KATNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2764627	NM_005886.3(KATNB1):c.172-8C>T	KATNB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2738632	NM_005886.3(KATNB1):c.996C>G (p.Pro332=)	KATNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2715114	NM_005886.3(KATNB1):c.909G>A (p.Thr303=)	KATNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2714903	NM_005886.3(KATNB1):c.1417-4G>A	KATNB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2704589	NM_005886.3(KATNB1):c.161del (p.Asn54fs)	KATNB1 (N54fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2700899	NM_005886.3(KATNB1):c.1266T>C (p.Pro422=)	KATNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2697983	NM_005886.3(KATNB1):c.705-14C>T	KATNB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2689281	NM_005886.3(KATNB1):c.62G>A (p.Ser21Asn)	KATNB1 (S21N)	Single nucleotide variant (missense variant)	Lissencephaly 6 with microcephaly	GUncertain significance
Select item 2646563	NM_005886.3(KATNB1):c.579C>T (p.Asn193=)	KATNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2636433	NM_005886.3(KATNB1):c.742A>G (p.Ser248Gly)	KATNB1 (S248G)	Single nucleotide variant (missense variant)	KATNB1-related disorder	GUncertain significance
Select item 2636375	NM_005886.3(KATNB1):c.508_509delinsCATCTG (p.Thr170fs)	KATNB1 (T170fs)	Indel (frameshift variant)	KATNB1-related disorder	GLikely pathogenic
Select item 2581730	NM_005886.3(KATNB1):c.1231G>A (p.Ala411Thr)	KATNB1 (A411T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2575744	NM_005886.3(KATNB1):c.1434G>T (p.Gln478His)	KATNB1 (Q478H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2570943	NM_005886.3(KATNB1):c.1296+3A>G	KATNB1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2550872	NM_005886.3(KATNB1):c.857T>C (p.Ile286Thr)	KATNB1 (I286T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547852	NM_005886.3(KATNB1):c.1207T>C (p.Phe403Leu)	KATNB1 (F403L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2532472	NM_005886.3(KATNB1):c.1540G>A (p.Ala514Thr)	KATNB1 (A514T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517248	NM_005886.3(KATNB1):c.1104C>G (p.Asp368Glu)	KATNB1 (D368E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515018	NM_005886.3(KATNB1):c.10C>G (p.Pro4Ala)	KATNB1 (P4A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2502718	NM_005886.3(KATNB1):c.1145A>G (p.Tyr382Cys)	KATNB1 (Y382C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2497847	NM_005886.3(KATNB1):c.488C>T (p.Ala163Val)	KATNB1 (A163V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2489467	NM_005886.3(KATNB1):c.566C>A (p.Thr189Lys)	KATNB1 (T189K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470452	NM_005886.3(KATNB1):c.1343C>T (p.Pro448Leu)	KATNB1 (P448L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463345	NM_005886.3(KATNB1):c.788G>A (p.Arg263Gln)	KATNB1 (R263Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2432980	NM_005886.3(KATNB1):c.904C>A (p.Leu302Met)	KATNB1 (L302M)	Single nucleotide variant (missense variant)	Lissencephaly 6 with microcephaly	GUncertain significance
Select item 2432979	NM_005886.3(KATNB1):c.1208T>A (p.Phe403Tyr)	KATNB1 (F403Y)	Single nucleotide variant (missense variant)	Lissencephaly 6 with microcephaly	GUncertain significance
Select item 2432978	NM_005886.3(KATNB1):c.100C>T (p.Arg34Trp)	KATNB1 (R34W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2426846	NC_000016.9:g.(?_57016057)_(58768132_?)del	NLRC5, PLLP +34 more	Deletion	not provided	GPathogenic
Select item 2426640	NC_000016.9:g.(?_56226148)_(58768132_?)del	ADGRG1, ADGRG3 +54 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic
Select item 2400229	NM_005886.3(KATNB1):c.970C>G (p.Gln324Glu)	KATNB1 (Q324E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2390985	NM_005886.3(KATNB1):c.988A>G (p.Ser330Gly)	KATNB1 (S330G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344774	NM_005886.3(KATNB1):c.131_147del (p.Arg44fs)	KATNB1 (R44fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2337607	NM_005886.3(KATNB1):c.787C>T (p.Arg263Trp)	KATNB1 (R263W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330841	NM_005886.3(KATNB1):c.350G>C (p.Gly117Ala)	KATNB1 (G117A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303934	NM_005886.3(KATNB1):c.1407C>A (p.Asp469Glu)	KATNB1 (D469E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290028	NM_005886.3(KATNB1):c.145T>C (p.Ser49Pro)	KATNB1 (S49P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277815	NM_005886.3(KATNB1):c.1376G>A (p.Arg459Gln)	KATNB1 (R459Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268249	NM_005886.3(KATNB1):c.601G>A (p.Glu201Lys)	KATNB1 (E201K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256790	NM_005886.3(KATNB1):c.994C>G (p.Pro332Ala)	KATNB1 (P332A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242909	NM_005886.3(KATNB1):c.1919A>G (p.His640Arg)	KATNB1 (H640R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2242116	NM_005886.3(KATNB1):c.1841A>G (p.His614Arg)	KATNB1 (H614R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239843	NM_005886.3(KATNB1):c.402C>G (p.Ile134Met)	KATNB1 (I134M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236731	NM_005886.3(KATNB1):c.1704G>C (p.Gln568His)	KATNB1 (Q568H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235931	NM_005886.3(KATNB1):c.1015C>T (p.Arg339Trp)	KATNB1 (R339W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2230339	NM_005886.3(KATNB1):c.710T>A (p.Val237Asp)	KATNB1 (V237D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227392	NM_005886.3(KATNB1):c.964C>G (p.Leu322Val)	KATNB1 (L322V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2205477	NM_005886.3(KATNB1):c.262C>T (p.Arg88Cys)	KATNB1 (R88C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2201034	NM_005886.3(KATNB1):c.1193G>A (p.Arg398Gln)	KATNB1 (R398Q)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2196992	NM_005886.3(KATNB1):c.492G>A (p.Ser164=)	KATNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2193282	NM_005886.3(KATNB1):c.1571C>T (p.Ser524Leu)	KATNB1 (S524L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2190354	NM_005886.3(KATNB1):c.895G>A (p.Val299Met)	KATNB1 (V299M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2189988	NM_005886.3(KATNB1):c.1004G>A (p.Arg335His)	KATNB1 (R335H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2188903	NM_005886.3(KATNB1):c.1228G>A (p.Asp410Asn)	KATNB1 (D410N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2185852	NM_005886.3(KATNB1):c.1629C>T (p.Ile543=)	KATNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2185812	NM_005886.3(KATNB1):c.1287G>A (p.Pro429=)	KATNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2184661	NM_005886.3(KATNB1):c.633-3C>T	KATNB1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2179273	NM_005886.3(KATNB1):c.1429C>T (p.Pro477Ser)	KATNB1 (P477S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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