"PreventionGenetics, part of Exact Sciences"[submitter] AND "KLHL40"[g - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 380952	NM_152393.4(KLHL40):c.277G>C (p.Glu93Gln)	KLHL40 (E93Q)	Single nucleotide variant (missense variant)	Nemaline myopathy 8 +2 more	GBenign/Likely benign
Select item 262644	NM_152393.4(KLHL40):c.324A>G (p.Ala108=)	KLHL40	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 447662	NM_152393.4(KLHL40):c.447C>T (p.Ala149=)	KLHL40	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 3050447	NM_152393.4(KLHL40):c.573G>A (p.Glu191=)	KLHL40	Single nucleotide variant (synonymous variant)	KLHL40-related condition	GLikely benign
Select item 262645	NM_152393.4(KLHL40):c.648G>T (p.Ala216=)	KLHL40	Single nucleotide variant (synonymous variant)	Nemaline myopathy 8 +2 more	GBenign/Likely benign
Select item 262646	NM_152393.4(KLHL40):c.872A>C (p.Lys291Thr)	KLHL40 (K291T)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 3050396	NM_152393.4(KLHL40):c.909T>C (p.Pro303=)	KLHL40	Single nucleotide variant (synonymous variant)	KLHL40-related condition	GLikely benign
Select item 226688	NM_152393.4(KLHL40):c.1034A>G (p.Asn345Ser)	KLHL40 (N345S)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 262639	NM_152393.4(KLHL40):c.1053C>T (p.His351=)	KLHL40	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1093708	NM_152393.4(KLHL40):c.1062G>A (p.Leu354=)	KLHL40	Single nucleotide variant (synonymous variant)	Nemaline myopathy 8 +1 more	GLikely benign
Select item 262640	NM_152393.4(KLHL40):c.1104C>T (p.Phe368=)	KLHL40	Single nucleotide variant (synonymous variant)	Nemaline myopathy 8 +2 more	GBenign
Select item 3048568	NM_152393.4(KLHL40):c.1272C>T (p.Asp424=)	KLHL40	Single nucleotide variant (synonymous variant)	KLHL40-related condition	GLikely benign
Select item 1503315	NM_152393.4(KLHL40):c.1312C>T (p.Leu438=)	KLHL40	Single nucleotide variant (synonymous variant)	KLHL40-related condition +1 more	GConflicting classifications of pathogenicity
Select item 387671	NM_152393.4(KLHL40):c.1313+7A>G	KLHL40	Single nucleotide variant (intron variant)	Nemaline myopathy 8 +2 more	GBenign/Likely benign
Select item 541333	NM_152393.4(KLHL40):c.1313+9G>A	KLHL40	Single nucleotide variant (intron variant)	Nemaline myopathy 8 +1 more	GLikely benign
Select item 3046998	NM_152393.4(KLHL40):c.1422-8C>T	KLHL40	Single nucleotide variant (intron variant)	KLHL40-related condition	GLikely benign
Select item 1083040	NM_152393.4(KLHL40):c.1467G>A (p.Glu489=)	KLHL40	Single nucleotide variant (synonymous variant)	KLHL40-related condition +1 more	GLikely benign
Select item 2197108	NM_152393.4(KLHL40):c.1494C>T (p.Thr498=)	KLHL40	Single nucleotide variant (synonymous variant)	Nemaline myopathy 8 +1 more	GLikely benign
Select item 262641	NM_152393.4(KLHL40):c.1540G>A (p.Val514Met)	KLHL40 (V514M)	Single nucleotide variant (missense variant)	Nemaline myopathy 8 +2 more	GBenign
Select item 1095662	NM_152393.4(KLHL40):c.1567C>T (p.Leu523=)	KLHL40	Single nucleotide variant (synonymous variant)	Nemaline myopathy 8 +1 more	GLikely benign
Select item 577617	NM_152393.4(KLHL40):c.1595T>C (p.Ile532Thr)	KLHL40 (I532T)	Single nucleotide variant (missense variant)	Nemaline myopathy 8 +1 more	GUncertain significance
Select item 1084159	NM_152393.4(KLHL40):c.1710G>A (p.Thr570=)	KLHL40	Single nucleotide variant (synonymous variant)	KLHL40-related condition +1 more	GLikely benign
Select item 262642	NM_152393.4(KLHL40):c.1738C>A (p.Leu580Ile)	KLHL40 (L580I)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 262643	NM_152393.4(KLHL40):c.1762GAG[2] (p.Glu590del)	KLHL40 (E590del)	Microsatellite (inframe_deletion)	Nemaline myopathy 8 +2 more	GBenign
Select item 3030124	NM_152393.4(KLHL40):c.1768dup (p.Glu590fs)	KLHL40 (E590fs)	Duplication (frameshift variant)	KLHL40-related condition	GUncertain significance
Select item 226689	NM_152393.4(KLHL40):c.1849T>C (p.Cys617Arg)	KLHL40 (C617R)	Single nucleotide variant (missense variant)	Nemaline myopathy 8 +1 more	GBenign

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Items: 26