57449[geneid] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 1427

<< First< Prev

Page of 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC129929105, LOC129929106 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 58242	GRCh38/hg38 1p36.33-36.23(chr1:629025-8537745)x1	LOC129929074, LOC129929075 +520 more	Copy number loss	See cases	GPathogenic
Select item 58244	GRCh38/hg38 1p36.33-36.31(chr1:629044-7008678)x1	LOC129929144, LOC129929145 +458 more	Copy number loss	See cases	GPathogenic
Select item 149968	GRCh38/hg38 1p36.33-36.31(chr1:821713-7000838)x1	CEP104, CFAP74 +449 more	Copy number loss	See cases	GPathogenic
Select item 154642	GRCh38/hg38 1p36.33-36.23(chr1:844347-7870545)x1	PUSL1, RER1 +470 more	Copy number loss	See cases	GPathogenic
Select item 147521	GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1	ACAP3, ACOT7 +806 more	Copy number loss	See cases	GPathogenic
Select item 147354	GRCh38/hg38 1p36.33-36.23(chr1:844347-8171914)x1	LOC129929192, LOC129929193 +490 more	Copy number loss	See cases	GPathogenic
Select item 144461	GRCh38/hg38 1p36.33-36.31(chr1:844347-6916587)x1	ACAP3, ACOT7 +441 more	Copy number loss	See cases	GPathogenic
Select item 57440	GRCh38/hg38 1p36.33-36.31(chr1:844347-6477436)x1	ACAP3, ACOT7 +401 more	Copy number loss	See cases	GPathogenic
Select item 150566	GRCh38/hg38 1p36.33-36.31(chr1:844353-6477474)x1	LOC129929237, LOC129929238 +401 more	Copy number loss	See cases	GPathogenic
Select item 58294	GRCh38/hg38 1p36.33-36.23(chr1:859215-8747647)x1	ACAP3, ACOT7 +519 more	Copy number loss	See cases	GPathogenic
Select item 154584	GRCh38/hg38 1p36.33-36.23(chr1:898721-7811306)x1	LOC129929075, LOC129929076 +464 more	Copy number loss	See cases	GPathogenic
Select item 153078	GRCh38/hg38 1p36.33-36.22(chr1:902111-9556305)x1	ACAP3, ACOT7 +578 more	Copy number loss	See cases	GPathogenic
Select item 154548	GRCh38/hg38 1p36.33-36.22(chr1:911300-9329925)x1	LRRC47, MEGF6 +564 more	Copy number loss	See cases	GPathogenic
Select item 153663	GRCh38/hg38 1p36.33-36.22(chr1:914086-9567122)x1	LOC129929302, LOC129929303 +577 more	Copy number loss	See cases	GPathogenic
Select item 57390	GRCh38/hg38 1p36.32-36.23(chr1:2844760-8007940)x1	ACOT7, ACTRT2 +226 more	Copy number loss	See cases	GPathogenic
Select item 152936	GRCh38/hg38 1p36.32-36.23(chr1:2868477-7332569)x1	LOC112577578, LOC112577579 +199 more	Copy number loss	See cases	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	LINC02783, LINC03126 +804 more	Copy number loss	See cases	GPathogenic
Select item 59852	GRCh38/hg38 1p36.32-36.23(chr1:3472163-7842947)x1	ACOT7, AJAP1 +193 more	Copy number loss	See cases	GPathogenic
Select item 148387	GRCh38/hg38 1p36.32-36.21(chr1:4898439-12911913)x1	AADACL3, AADACL4 +500 more	Copy number loss	See cases	GPathogenic
Select item 59856	GRCh38/hg38 1p36.32-36.21(chr1:4898439-13111056)x1	LOC129929435, LOC129929436 +505 more	Copy number loss	See cases	GPathogenic
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	PLOD1, PRAMEF1 +730 more	Copy number loss	See cases	GPathogenic
Select item 1184370	NC_000001.11:g.6234122_6508845dup	ACOT7, ESPN +35 more	Duplication	not provided	GUncertain significance
Select item 148885	GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1	LOC129929327, LOC129929328 +557 more	Copy number loss	See cases	GPathogenic
Select item 297904	NM_003790.3(TNFRSF25):c.-16C>T	PLEKHG5, TNFRSF25	Single nucleotide variant (5 prime UTR variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4	GBenign
Select item 297905	NM_003790.3(TNFRSF25):c.-43_-36del	PLEKHG5, TNFRSF25	Deletion (5 prime UTR variant)	Distal spinal muscular atrophy	GBenign
Select item 874693	NM_003790.3(TNFRSF25):c.-51A>G	PLEKHG5, TNFRSF25	Single nucleotide variant (5 prime UTR variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4	GUncertain significance
Select item 297906	NM_020631.5(PLEKHG5):c.1376_1379delGCGG	PLEKHG5	Deletion	Distal spinal muscular atrophy	GBenign
Select item 874694	NM_020631.5(PLEKHG5):c.*1374C>T	PLEKHG5	Single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 4	GUncertain significance
Select item 297907	NM_020631.5(PLEKHG5):c.*1354T>C	PLEKHG5	Single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 4	GUncertain significance
Select item 297908	NM_020631.5(PLEKHG5):c.*1347G>T	PLEKHG5	Single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 4	GUncertain significance
Select item 874695	NM_020631.5(PLEKHG5):c.*1333C>T	PLEKHG5	Single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 4	GUncertain significance
Select item 874696	NM_020631.5(PLEKHG5):c.*1332C>A	PLEKHG5	Single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 4	GUncertain significance
Select item 297909	NM_020631.5(PLEKHG5):c.*1313C>T	PLEKHG5	Single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 4	GBenign
Select item 297910	NM_020631.5(PLEKHG5):c.*1304G>A	PLEKHG5	Single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 4	GBenign
Select item 297911	NM_020631.5(PLEKHG5):c.*1289C>G	PLEKHG5	Single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 4	GUncertain significance
Select item 875638	NM_020631.5(PLEKHG5):c.*1186A>G	PLEKHG5	Single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 4	GUncertain significance
Select item 297912	NM_020631.5(PLEKHG5):c.*1158G>C	PLEKHG5	Single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 4	GBenign
Select item 875639	NM_020631.5(PLEKHG5):c.*1087G>T	PLEKHG5	Single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 4	GUncertain significance
Select item 297913	NM_020631.5(PLEKHG5):c.*1052G>A	PLEKHG5	Single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 4	GBenign
Select item 297914	NM_020631.5(PLEKHG5):c.*1016A>G	PLEKHG5	Single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 4	GUncertain significance
Select item 297915	NM_020631.5(PLEKHG5):c.*1006C>T	PLEKHG5	Single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 4	GUncertain significance
Select item 297916	NM_020631.5(PLEKHG5):c.*990C>T	PLEKHG5	Single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 4	GBenign
Select item 297917	NM_020631.5(PLEKHG5):c.*978dup	PLEKHG5	Duplication	Distal spinal muscular atrophy	GUncertain significance
Select item 297918	NM_020631.5(PLEKHG5):c.*905G>A	PLEKHG5	Single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 4	GUncertain significance
Select item 297919	NM_020631.5(PLEKHG5):c.*843G>T	PLEKHG5	Single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 4	GBenign
Select item 876638	NM_020631.5(PLEKHG5):c.*816C>T	PLEKHG5	Single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 4	GUncertain significance
Select item 297920	NM_020631.5(PLEKHG5):c.*801G>A	PLEKHG5	Single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 4	GUncertain significance
Select item 297921	NM_020631.5(PLEKHG5):c.*775T>G	PLEKHG5	Single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 4	GUncertain significance
Select item 297923	NM_020631.5(PLEKHG5):c.*765T>A	PLEKHG5	Single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 4	GBenign
Select item 297922	NM_020631.5(PLEKHG5):c.*751delT	PLEKHG5	Deletion	Distal spinal muscular atrophy	GUncertain significance
Select item 297924	NM_020631.5(PLEKHG5):c.*750delC	PLEKHG5	Deletion	Distal spinal muscular atrophy	GUncertain significance
Select item 297925	NM_020631.5(PLEKHG5):c.*697C>T	PLEKHG5	Single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 4	GBenign
Select item 873788	NM_020631.5(PLEKHG5):c.*573G>A	PLEKHG5	Single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 4	GUncertain significance
Select item 297926	NM_020631.5(PLEKHG5):c.*555T>A	PLEKHG5	Single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 4	GUncertain significance
Select item 297927	NM_020631.6(PLEKHG5):c.*363C>G	PLEKHG5	Single nucleotide variant (3 prime UTR variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4	GUncertain significance
Select item 873789	NM_020631.6(PLEKHG5):c.*304C>T	PLEKHG5	Single nucleotide variant (3 prime UTR variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4	GUncertain significance
Select item 297928	NM_020631.6(PLEKHG5):c.*290T>C	PLEKHG5	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 873790	NM_020631.6(PLEKHG5):c.*285C>T	PLEKHG5	Single nucleotide variant (3 prime UTR variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4	GUncertain significance
Select item 873791	NM_020631.6(PLEKHG5):c.*236G>A	PLEKHG5	Single nucleotide variant (3 prime UTR variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4	GUncertain significance
Select item 297929	NM_020631.6(PLEKHG5):c.*192G>A	PLEKHG5	Single nucleotide variant (3 prime UTR variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4	GUncertain significance
Select item 874744	NM_020631.6(PLEKHG5):c.*159G>A	PLEKHG5	Single nucleotide variant (3 prime UTR variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4	GUncertain significance
Select item 297930	NM_020631.6(PLEKHG5):c.*108G>A	PLEKHG5	Single nucleotide variant (3 prime UTR variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GBenign/Likely benign
Select item 297931	NM_020631.6(PLEKHG5):c.*68C>T	PLEKHG5	Single nucleotide variant (3 prime UTR variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4	GUncertain significance
Select item 874745	NM_020631.6(PLEKHG5):c.*63C>T	PLEKHG5	Single nucleotide variant (3 prime UTR variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4	GBenign
Select item 297932	NM_020631.6(PLEKHG5):c.*27T>C	PLEKHG5	Single nucleotide variant (3 prime UTR variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4	GBenign
Select item 1211891	NM_020631.6(PLEKHG5):c.*12C>T	PLEKHG5	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 2193664	NM_020631.6(PLEKHG5):c.3015G>A (p.Glu1005=)	PLEKHG5	Single nucleotide variant (synonymous variant +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GUncertain significance
Select item 1798815	NM_020631.6(PLEKHG5):c.3012-3T>C	PLEKHG5	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 1013640	NM_020631.6(PLEKHG5):c.3012-17_3012-6del	PLEKHG5	Deletion (intron variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GUncertain significance
Select item 2945751	NM_020631.6(PLEKHG5):c.3012-7C>T	PLEKHG5	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GLikely benign
Select item 2948503	NM_020631.6(PLEKHG5):c.3012-10C>T	PLEKHG5	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GLikely benign
Select item 2924683	NM_020631.6(PLEKHG5):c.3012-11C>G	PLEKHG5	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GLikely benign
Select item 1593783	NM_020631.6(PLEKHG5):c.3012-12C>T	PLEKHG5	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GLikely benign
Select item 2936564	NM_020631.6(PLEKHG5):c.3012-15C>G	PLEKHG5	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GLikely benign
Select item 2081960	NM_020631.6(PLEKHG5):c.3012-17C>T	PLEKHG5	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GLikely benign
Select item 2938888	NM_020631.6(PLEKHG5):c.3012-18C>T	PLEKHG5	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GLikely benign
Select item 676978	NM_020631.6(PLEKHG5):c.3012-79C>T	PLEKHG5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 667940	NM_020631.6(PLEKHG5):c.3012-113G>A	PLEKHG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198764	NM_020631.6(PLEKHG5):c.3011+60C>A	PLEKHG5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2926028	NM_020631.6(PLEKHG5):c.3011+19G>A	PLEKHG5	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GLikely benign
Select item 2924334	NM_020631.6(PLEKHG5):c.3011+17G>A	PLEKHG5	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GLikely benign
Select item 2944155	NM_020631.6(PLEKHG5):c.3011+15C>A	PLEKHG5	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GLikely benign
Select item 2934352	NM_020631.6(PLEKHG5):c.3011+12G>A	PLEKHG5	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GLikely benign
Select item 2951999	NM_020631.6(PLEKHG5):c.3011+11T>C	PLEKHG5	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GLikely benign
Select item 391775	NM_020631.6(PLEKHG5):c.3011+9C>T	PLEKHG5	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 642177	NM_020631.6(PLEKHG5):c.3011+6T>C	PLEKHG5	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GUncertain significance
Select item 1061728	NM_020631.6(PLEKHG5):c.3011+3G>A	PLEKHG5	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GUncertain significance
Select item 2095118	NM_020631.6(PLEKHG5):c.3008C>T (p.Ala1003Val)	PLEKHG5 (A1003V +2 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GUncertain significance
Select item 2929754	NM_020631.6(PLEKHG5):c.3003C>T (p.Leu1001=)	PLEKHG5	Single nucleotide variant (synonymous variant +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GLikely benign
Select item 1080670	NM_020631.6(PLEKHG5):c.3000G>A (p.Thr1000=)	PLEKHG5	Single nucleotide variant (synonymous variant +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GLikely benign
Select item 652244	NM_020631.6(PLEKHG5):c.2999C>T (p.Thr1000Met)	PLEKHG5 (T1069M +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GUncertain significance
Select item 2947884	NM_020631.6(PLEKHG5):c.2994C>T (p.Asn998=)	PLEKHG5	Single nucleotide variant (synonymous variant +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GLikely benign
Select item 858211	NM_020631.6(PLEKHG5):c.2989C>G (p.Leu997Val)	PLEKHG5 (A930G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1491203	NM_020631.6(PLEKHG5):c.2987T>C (p.Leu996Pro)	PLEKHG5 (L1033P +2 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GUncertain significance
Select item 1611593	NM_020631.6(PLEKHG5):c.2986C>T (p.Leu996=)	PLEKHG5 (A929V)	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GLikely benign
Select item 2926345	NM_020631.6(PLEKHG5):c.2983C>T (p.Leu995=)	PLEKHG5 (P928L)	Single nucleotide variant (synonymous variant +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GLikely benign
Select item 2927329	NM_020631.6(PLEKHG5):c.2982C>T (p.Thr994=)	PLEKHG5 (P928S)	Single nucleotide variant (synonymous variant +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GLikely benign
Select item 1044115	NM_020631.6(PLEKHG5):c.2978C>A (p.Thr993Asn)	PLEKHG5 (D926E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2924107	NM_020631.6(PLEKHG5):c.2976G>A (p.Arg992=)	PLEKHG5 (D926N)	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GLikely benign

<< First< Prev

Page of 15