ClinVar for Gene (Select 343521) - ClinVar

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Links from Gene

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3274220	NM_001377534.1(DYNLT4):c.541G>C (p.Gly181Arg)	DYNLT4 (G181R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274219	NM_001377534.1(DYNLT4):c.172G>A (p.Ala58Thr)	DYNLT4 (A58T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274218	NM_001377534.1(DYNLT4):c.86G>A (p.Arg29Gln)	DYNLT4 (R29Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274217	NM_001377534.1(DYNLT4):c.641C>T (p.Thr214Met)	DYNLT4 (T214M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086588	NM_001377534.1(DYNLT4):c.8G>A (p.Ser3Asn)	DYNLT4 (S3N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086587	NM_001377534.1(DYNLT4):c.86G>C (p.Arg29Pro)	DYNLT4 (R29P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3086586	NM_001377534.1(DYNLT4):c.649G>A (p.Gly217Arg)	DYNLT4 (G217R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086584	NM_001377534.1(DYNLT4):c.601T>C (p.Ser201Pro)	DYNLT4 (S201P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086583	NM_001377534.1(DYNLT4):c.58G>A (p.Gly20Arg)	DYNLT4 (G20R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086582	NM_001377534.1(DYNLT4):c.587G>A (p.Arg196His)	DYNLT4 (R196H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086581	NM_001377534.1(DYNLT4):c.584C>T (p.Ala195Val)	DYNLT4 (A195V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086580	NM_001377534.1(DYNLT4):c.557T>C (p.Val186Ala)	DYNLT4 (V186A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086579	NM_001377534.1(DYNLT4):c.556G>A (p.Val186Met)	DYNLT4 (V186M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086578	NM_001377534.1(DYNLT4):c.519T>A (p.Ser173Arg)	DYNLT4 (S173R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086577	NM_001377534.1(DYNLT4):c.379C>A (p.Leu127Met)	DYNLT4 (L127M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086576	NM_001377534.1(DYNLT4):c.348G>C (p.Glu116Asp)	DYNLT4 (E116D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086575	NM_001377534.1(DYNLT4):c.257C>T (p.Pro86Leu)	DYNLT4 (P86L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086574	NM_001377534.1(DYNLT4):c.233G>A (p.Arg78Gln)	DYNLT4 (R78Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086573	NM_001377534.1(DYNLT4):c.191G>T (p.Arg64Leu)	DYNLT4 (R64L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086572	NM_001377534.1(DYNLT4):c.179C>T (p.Ser60Phe)	DYNLT4 (S60F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086571	NM_001377534.1(DYNLT4):c.121G>T (p.Ala41Ser)	DYNLT4 (A41S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086570	NM_001377534.1(DYNLT4):c.118C>A (p.Pro40Thr)	DYNLT4 (P40T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 2638778	NM_001377534.1(DYNLT4):c.246C>T (p.Gly82=)	DYNLT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2612351	NM_001377534.1(DYNLT4):c.290C>T (p.Pro97Leu)	DYNLT4 (P97L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608709	NM_001377534.1(DYNLT4):c.253C>T (p.Pro85Ser)	DYNLT4 (P85S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601241	NM_001377534.1(DYNLT4):c.212G>A (p.Gly71Asp)	DYNLT4 (G71D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588100	NM_001377534.1(DYNLT4):c.388G>T (p.Ala130Ser)	DYNLT4 (A130S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525019	NM_001377534.1(DYNLT4):c.503A>G (p.Tyr168Cys)	DYNLT4 (Y168C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512609	NM_001377534.1(DYNLT4):c.34G>A (p.Glu12Lys)	DYNLT4 (E12K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484857	NM_001377534.1(DYNLT4):c.437C>T (p.Ala146Val)	DYNLT4 (A146V)	Single nucleotide variant (missense variant)	not specified	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 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 996732	NM_001377534.1(DYNLT4):c.631G>C (p.Ala211Pro)	DYNLT4 (A211P)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	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 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 154514	GRCh38/hg38 1p34.1(chr1:43896056-44867736)x3	ARMH1, ARTN +88 more	Copy number gain	See cases	GUncertain significance
Select item 57429	GRCh38/hg38 1p34.1(chr1:44713837-45282899)x3	ARMH1, BEST4 +39 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 41