11732[HGNC] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 145560	GRCh38/hg38 1p34.1(chr1:44962358-45585262)x3	AKR1A1, CCDC163 +48 more	Copy number gain	See cases	GUncertain significance
Select item 3176184	NM_007170.3(TESK2):c.1676C>T (p.Ser559Leu)	TESK2 (S476L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374993	NM_007170.3(TESK2):c.1568G>C (p.Gly523Ala)	TESK2 (G440A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176183	NM_007170.3(TESK2):c.1499G>A (p.Arg500Gln)	TESK2 (R417Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266979	NM_007170.3(TESK2):c.1498C>T (p.Arg500Trp)	TESK2 (R417W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638791	NM_007170.3(TESK2):c.1454G>A (p.Arg485His)	TESK2 (R402H +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2488417	NM_007170.3(TESK2):c.1387T>A (p.Phe463Ile)	TESK2 (F463I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176182	NM_007170.3(TESK2):c.1379C>T (p.Ser460Leu)	TESK2 (S377L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588464	NM_007170.3(TESK2):c.1364G>A (p.Arg455His)	TESK2 (R372H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1264064	NM_007170.3(TESK2):c.1363C>T (p.Arg455Cys)	TESK2 (R372C +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3176181	NM_007170.3(TESK2):c.1358G>A (p.Arg453Gln)	TESK2 (R453Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176180	NM_007170.3(TESK2):c.1354C>T (p.Arg452Cys)	TESK2 (R369C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590997	NM_007170.3(TESK2):c.1313T>C (p.Met438Thr)	TESK2 (M355T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538544	NM_007170.3(TESK2):c.1187C>T (p.Thr396Ile)	TESK2 (T313I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325484	NM_007170.3(TESK2):c.1132C>T (p.Arg378Cys)	TESK2 (R378C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214358	NM_007170.3(TESK2):c.1121G>A (p.Arg374His)	TESK2 (R291H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176177	NM_007170.3(TESK2):c.1079G>A (p.Arg360His)	TESK2 (R277H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176176	NM_007170.3(TESK2):c.1031T>C (p.Leu344Pro)	TESK2 (L344P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599490	NM_007170.3(TESK2):c.996G>C (p.Arg332Ser)	TESK2 (R332S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473516	NM_007170.3(TESK2):c.995G>C (p.Arg332Thr)	TESK2 (R249T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218931	NM_007170.3(TESK2):c.930G>T (p.Glu310Asp)	TESK2 (E310D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516571	NM_007170.3(TESK2):c.776A>G (p.Tyr259Cys)	TESK2 (Y176C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211852	NM_007170.3(TESK2):c.616G>A (p.Asp206Asn)	TESK2 (D206N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176189	NM_007170.3(TESK2):c.479T>C (p.Ile160Thr)	TESK2 (I77T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325483	NM_007170.3(TESK2):c.478A>G (p.Ile160Val)	TESK2 (I160V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176188	NM_007170.3(TESK2):c.460G>C (p.Val154Leu)	TESK2 (V154L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176187	NM_007170.3(TESK2):c.395A>G (p.Tyr132Cys)	TESK2 (Y49C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 57754	GRCh38/hg38 1p34.1(chr1:45402871-45603348)x3	AKR1A1, CCDC163 +22 more	Copy number gain	See cases	GUncertain significance
Select item 2339740	NM_007170.3(TESK2):c.318T>A (p.Asn106Lys)	TESK2 (N106K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367219	NM_007170.3(TESK2):c.283C>T (p.Arg95Trp)	TESK2 (R12W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176185	NM_007170.3(TESK2):c.236C>G (p.Ala79Gly)	TESK2 (A79G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 57383	GRCh38/hg38 1p34.1(chr1:45440264-45869574)x3	AKR1A1, CCDC163 +34 more	Copy number gain	See cases	GUncertain significance
Select item 3176179	NM_007170.3(TESK2):c.128A>G (p.Tyr43Cys)	TESK2 (Y43C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176178	NM_007170.3(TESK2):c.118C>T (p.Pro40Ser)	TESK2 (P40S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2230516	NM_007170.3(TESK2):c.37C>T (p.Pro13Ser)	TESK2 (P13S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3325485	NM_007170.3(TESK2):c.16C>T (p.Arg6Trp)	TESK2 (R6W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 152740	GRCh38/hg38 1p34.1(chr1:45469848-46220805)x3	AKR1A1, CCDC163 +53 more	Copy number gain	See cases	GLikely benign
Select item 148588	GRCh38/hg38 1p34.1(chr1:45488251-46220805)x3	AKR1A1, CCDC163 +52 more	Copy number gain	See cases	GUncertain significance
Select item 3063121	GRCh37/hg19 1p34.1(chr1:45857175-46077062)x3	AKR1A1, MMACHC +3 more	Copy number gain	not specified	GUncertain significance
Select item 2685800	GRCh37/hg19 1p34.1(chr1:45665404-45955823)x3	HPDL, MUTYH +3 more	Copy number gain	not provided	GUncertain significance
Select item 2425557	NC_000001.10:g.(?_44257753)_(46663493_?)dup	AKR1A1, ARMH1 +39 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1684561	GRCh37/hg19 1p34.1(chr1:44346001-46332161)x3	AKR1A1, ARMH1 +36 more	Copy number gain	See cases	GUncertain significance
Select item 1526949	GRCh37/hg19 1p34.1-32.3(chr1:45303358-52157856)	AGBL4, AKR1A1 +58 more	Copy number loss	not specified	GLikely pathogenic
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 814071	GRCh37/hg19 1p34.1(chr1:45386263-45982314)x1	MUTYH, PRDX1 +8 more	Copy number loss	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	KCNQ4, KDM4A +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 565088	GRCh37/hg19 1p34.1(chr1:45819488-45945384)x1	TESK2	Copy number loss	not provided	GLikely benign
Select item 561978	GRCh37/hg19 1p34.1(chr1:45923445-46017520)x1	TESK2, MMACHC +2 more	Copy number loss	not provided	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 441702	GRCh37/hg19 1p34.1(chr1:45715667-46501705)x3	AKR1A1, CCDC17 +11 more	Copy number gain	See cases	GUncertain significance
Select item 253787	GRCh37/hg19 1p34.1(chr1:45953923-46126722)x3	AKR1A1, CCDC17 +5 more	Copy number gain	See cases	GUncertain significance

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Items: 54