KATNB1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1184380	Single allele	SLC38A7, SLC6A2 +519 more	Duplication	not provided	GPathogenic
Select item 155685	GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3	LOC130059125, LOC130059126 +675 more	Copy number gain	See cases	GPathogenic
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059149, LOC130059150 +1738 more	Copy number gain	See cases	GPathogenic
Select item 144256	GRCh38/hg38 16q12.2-21(chr16:55457477-63841622)x1	ADGRG1, ADGRG3 +244 more	Copy number loss	See cases	GPathogenic
Select item 58630	GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3	LOC130059330, LOC130059331 +599 more	Copy number gain	See cases	GPathogenic
Select item 1289729	NM_005886.3(KATNB1):c.-266-158C>T	KATNB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1207225	NM_005886.3(KATNB1):c.-266-57G>A	KATNB1, LOC130059121	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1213470	NM_005886.3(KATNB1):c.-140A>C	KATNB1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1286789	NM_005886.3(KATNB1):c.-30G>T	KATNB1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 180639	NM_005886.3(KATNB1):c.1A>G (p.Met1Val)	KATNB1 (M1V)	Single nucleotide variant (missense variant +1 more)	Lissencephaly 6 with microcephaly	GPathogenic
Select item 1630249	NM_005886.3(KATNB1):c.9C>T (p.Thr3=)	KATNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2089938	NM_005886.3(KATNB1):c.20C>T (p.Thr7Ile)	KATNB1 (T7I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1671199	NM_005886.3(KATNB1):c.40+7G>A	KATNB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 737394	NM_005886.3(KATNB1):c.40+7G>C	KATNB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1289490	NM_005886.3(KATNB1):c.40+142A>G	KATNB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247108	NM_005886.3(KATNB1):c.41-297G>A	KATNB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288186	NM_005886.3(KATNB1):c.41-269A>G	KATNB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1187205	NM_005886.3(KATNB1):c.41-247G>A	KATNB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1226938	NM_005886.3(KATNB1):c.41-227A>G	KATNB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272866	NM_005886.3(KATNB1):c.41-62C>T	KATNB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1898597	NM_005886.3(KATNB1):c.41-18C>G	KATNB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1384564	NM_005886.3(KATNB1):c.42A>C (p.Gln14His)	KATNB1 (Q14H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 734328	NM_005886.3(KATNB1):c.48C>T (p.Ile16=)	KATNB1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1337474	NM_005886.3(KATNB1):c.49G>A (p.Val17Ile)	KATNB1 (V17I)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2902073	NM_005886.3(KATNB1):c.51C>T (p.Val17=)	KATNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1633978	NM_005886.3(KATNB1):c.54G>A (p.Ala18=)	KATNB1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 777032	NM_005886.3(KATNB1):c.66C>T (p.Asn22=)	KATNB1	Single nucleotide variant (synonymous variant)	KATNB1-related disorder +1 more	GBenign/Likely benign
Select item 2030702	NM_005886.3(KATNB1):c.72C>T (p.Ser24=)	KATNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 712324	NM_005886.3(KATNB1):c.93C>T (p.Ala31=)	KATNB1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely 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 180640	NM_005886.3(KATNB1):c.97G>T (p.Gly33Trp)	KATNB1 (G33W)	Single nucleotide variant (missense variant)	Lissencephaly 6 with microcephaly	GPathogenic
Select item 2432978	NM_005886.3(KATNB1):c.100C>T (p.Arg34Trp)	KATNB1 (R34W)	Single nucleotide variant (missense variant)	Lissencephaly 6 with microcephaly	GUncertain significance
Select item 2084141	NM_005886.3(KATNB1):c.101G>A (p.Arg34Gln)	KATNB1 (R34Q)	Single nucleotide variant (missense variant)	not provided +1 more	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 741795	NM_005886.3(KATNB1):c.129C>T (p.Cys43=)	KATNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1439633	NM_005886.3(KATNB1):c.130C>T (p.Arg44Cys)	KATNB1 (R44C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1960586	NM_005886.3(KATNB1):c.131G>T (p.Arg44Leu)	KATNB1 (R44L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1328151	NM_005886.3(KATNB1):c.131G>A (p.Arg44His)	KATNB1 (R44H)	Single nucleotide variant (missense 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 3112819	NM_005886.3(KATNB1):c.138C>G (p.Asn46Lys)	KATNB1 (N46K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2017392	NM_005886.3(KATNB1):c.141G>A (p.Leu47=)	KATNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2704589	NM_005886.3(KATNB1):c.161del (p.Asn54fs)	KATNB1 (N54fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2148236	NM_005886.3(KATNB1):c.161A>G (p.Asn54Ser)	KATNB1 (N54S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2175467	NM_005886.3(KATNB1):c.162C>T (p.Asn54=)	KATNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1933254	NM_005886.3(KATNB1):c.171+6C>T	KATNB1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1597836	NM_005886.3(KATNB1):c.171+9C>T	KATNB1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2080779	NM_005886.3(KATNB1):c.171+10G>A	KATNB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009682	NM_005886.3(KATNB1):c.171+25dup	KATNB1	Duplication (intron variant)	not provided	GBenign
Select item 1919679	NM_005886.3(KATNB1):c.171+20G>A	KATNB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1264578	NM_005886.3(KATNB1):c.171+103G>A	KATNB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248403	NM_005886.3(KATNB1):c.171+130C>G	KATNB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267831	NM_005886.3(KATNB1):c.171+250G>C	KATNB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216903	NM_005886.3(KATNB1):c.172-222G>T	KATNB1	Single nucleotide variant (intron 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 1523436	NM_005886.3(KATNB1):c.179C>T (p.Thr60Met)	KATNB1 (T60M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1599062	NM_005886.3(KATNB1):c.180G>A (p.Thr60=)	KATNB1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 709149	NM_005886.3(KATNB1):c.183C>T (p.Gly61=)	KATNB1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 2084799	NM_005886.3(KATNB1):c.201G>C (p.Glu67Asp)	KATNB1 (E67D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2111866	NM_005886.3(KATNB1):c.203G>A (p.Ser68Asn)	KATNB1 (S68N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1986397	NM_005886.3(KATNB1):c.208C>T (p.Arg70Cys)	KATNB1 (R70C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1532510	NM_005886.3(KATNB1):c.216C>T (p.Asn72=)	KATNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 435541	NM_005886.3(KATNB1):c.217A>G (p.Thr73Ala)	KATNB1 (T73A)	Single nucleotide variant (missense variant)	KATNB1-related disorder +2 more	GLikely benign
Select item 1714531	NM_005886.3(KATNB1):c.223G>A (p.Glu75Lys)	KATNB1 (E75K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2791441	NM_005886.3(KATNB1):c.289+17G>C	KATNB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1198601	NM_005886.3(KATNB1):c.289+29C>T	KATNB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1185863	NM_005886.3(KATNB1):c.289+41T>C	KATNB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1277395	NM_005886.3(KATNB1):c.289+65A>G	KATNB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218527	NM_005886.3(KATNB1):c.289+110C>T	KATNB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1257280	NM_005886.3(KATNB1):c.289+127C>G	KATNB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262773	NM_005886.3(KATNB1):c.289+208GT[10]	KATNB1	Microsatellite (intron variant)	not provided	GBenign
Select item 1258304	NM_005886.3(KATNB1):c.289+208GT[11]	KATNB1	Microsatellite (intron variant)	not provided	GBenign
Select item 1236615	NM_005886.3(KATNB1):c.289+261G>T	KATNB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233215	NM_005886.3(KATNB1):c.289+266GT[8]	KATNB1	Microsatellite (intron variant)	not provided	GBenign
Select item 1225496	NM_005886.3(KATNB1):c.289+266GT[11]	KATNB1	Microsatellite (intron variant)	not provided	GBenign
Select item 1225436	NM_005886.3(KATNB1):c.289+266GT[12]	KATNB1	Microsatellite (intron variant)	not provided	GBenign
Select item 1204325	NM_005886.3(KATNB1):c.290-173G>A	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 2022958	NM_005886.3(KATNB1):c.290-7_290-6del	KATNB1	Deletion (intron variant)	not provided	GLikely benign
Select item 2912532	NM_005886.3(KATNB1):c.345G>A (p.Pro115=)	KATNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1275210	NM_005886.3(KATNB1):c.348C>T (p.Tyr116=)	KATNB1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1336808	NM_005886.3(KATNB1):c.349G>A (p.Gly117Ser)	KATNB1 (G117S)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
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 1436765	NM_005886.3(KATNB1):c.362C>T (p.Ala121Val)	KATNB1 (A121V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1495914	NM_005886.3(KATNB1):c.379A>G (p.Thr127Ala)	KATNB1 (T127A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 731550	NM_005886.3(KATNB1):c.390+10C>T	KATNB1	Single nucleotide variant (intron 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 1632105	NM_005886.3(KATNB1):c.390+12G>A	KATNB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2089788	NM_005886.3(KATNB1):c.390+16G>A	KATNB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1217649	NM_005886.3(KATNB1):c.391-94T>C	KATNB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1272758	NM_005886.3(KATNB1):c.391-70T>C	KATNB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1213168	NM_005886.3(KATNB1):c.391-52C>T	KATNB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1249738	NM_005886.3(KATNB1):c.391-35C>T	KATNB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1910771	NM_005886.3(KATNB1):c.391-14T>C	KATNB1	Single nucleotide variant (intron variant)	not provided	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 1209265	NM_005886.3(KATNB1):c.391-5C>G	KATNB1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 2239843	NM_005886.3(KATNB1):c.402C>G (p.Ile134Met)	KATNB1 (I134M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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