KLHL26[gene] - ClinVar

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

Search results

Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic
Select item 2315112	NM_018316.3(KLHL26):c.5C>T (p.Ala2Val)	KLHL26, LOC121627865 (A2V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3288957	NM_018316.3(KLHL26):c.29G>A (p.Gly10Asp)	KLHL26, LOC121627865 (G10D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618515	NM_018316.3(KLHL26):c.59G>A (p.Gly20Asp)	KLHL26, LOC121627865 (G20D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490474	NM_018316.3(KLHL26):c.81C>G (p.Asn27Lys)	KLHL26, LOC121627865 (N27K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3288959	NM_018316.3(KLHL26):c.103G>A (p.Ala35Thr)	KLHL26 (A35T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2308836	NM_018316.3(KLHL26):c.190G>C (p.Asp64His)	KLHL26 (D53H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393495	NM_018316.3(KLHL26):c.238G>A (p.Val80Ile)	KLHL26 (V80I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394208	NM_018316.3(KLHL26):c.256G>A (p.Asp86Asn)	KLHL26 (D75N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115601	NM_018316.3(KLHL26):c.307G>A (p.Val103Ile)	KLHL26 (V103I +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2459473	NM_018316.3(KLHL26):c.326T>A (p.Val109Glu)	KLHL26 (V109E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390423	NM_018316.3(KLHL26):c.352A>G (p.Ile118Val)	KLHL26 (I107V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364267	NM_018316.3(KLHL26):c.607C>T (p.Arg203Cys)	KLHL26 (R203C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2649589	NM_018316.3(KLHL26):c.633C>T (p.Phe211=)	KLHL26	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2483570	NM_018316.3(KLHL26):c.671T>C (p.Ile224Thr)	KLHL26 (I224T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596127	NM_018316.3(KLHL26):c.719G>A (p.Arg240Gln)	KLHL26 (R229Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315660	NM_018316.3(KLHL26):c.745T>C (p.Cys249Arg)	KLHL26 (C238R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115602	NM_018316.3(KLHL26):c.751A>G (p.Ile251Val)	KLHL26 (I161V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332610	NM_018316.3(KLHL26):c.773C>G (p.Ser258Trp)	KLHL26 (S168W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115603	NM_018316.3(KLHL26):c.790A>G (p.Ser264Gly)	KLHL26 (S264G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389268	NM_018316.3(KLHL26):c.857A>G (p.Asn286Ser)	KLHL26 (N196S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115604	NM_018316.3(KLHL26):c.878G>A (p.Arg293Gln)	KLHL26 (R203Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3288954	NM_018316.3(KLHL26):c.914G>A (p.Arg305His)	KLHL26 (R294H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115605	NM_018316.3(KLHL26):c.917C>T (p.Ser306Leu)	KLHL26 (S216L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3288955	NM_018316.3(KLHL26):c.1007C>T (p.Pro336Leu)	KLHL26 (P336L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527682	NM_018316.3(KLHL26):c.1103G>A (p.Gly368Glu)	KLHL26 (G368E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3288960	NM_018316.3(KLHL26):c.1175G>A (p.Arg392His)	KLHL26 (R421H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3288958	NM_018316.3(KLHL26):c.1181T>A (p.Leu394Gln)	KLHL26 (L383Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323259	NM_018316.3(KLHL26):c.1187T>C (p.Leu396Pro)	KLHL26 (L385P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115597	NM_018316.3(KLHL26):c.1261C>T (p.Arg421Cys)	KLHL26 (R450C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115598	NM_018316.3(KLHL26):c.1283C>T (p.Ala428Val)	KLHL26 (A428V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266925	NM_018316.3(KLHL26):c.1291G>A (p.Glu431Lys)	KLHL26 (E431K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115599	NM_018316.3(KLHL26):c.1312A>G (p.Asn438Asp)	KLHL26 (N427D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3288962	NM_018316.3(KLHL26):c.1364G>C (p.Gly455Ala)	KLHL26 (G444A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2649590	NM_018316.3(KLHL26):c.1380C>A (p.Gly460=)	KLHL26	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2411513	NM_018316.3(KLHL26):c.1381C>T (p.Arg461Cys)	KLHL26 (R490C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372543	NM_018316.3(KLHL26):c.1424A>G (p.Lys475Arg)	KLHL26 (K464R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115600	NM_018316.3(KLHL26):c.1465G>C (p.Glu489Gln)	KLHL26 (E478Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523583	NM_018316.3(KLHL26):c.1607C>G (p.Thr536Arg)	KLHL26 (T446R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3288956	NM_018316.3(KLHL26):c.1699T>G (p.Tyr567Asp)	KLHL26 (Y556D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301732	NM_018316.3(KLHL26):c.1811C>T (p.Ala604Val)	KLHL26 (A514V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399256	NM_018316.3(KLHL26):c.1813C>T (p.Pro605Ser)	KLHL26 (P515S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305507	NM_018316.3(KLHL26):c.1813C>G (p.Pro605Ala)	KLHL26 (P634A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2425279	NC_000019.9:g.(?_17927663)_(19312528_?)dup	ISYNA1, JAK3 +44 more	Duplication	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GUncertain significance
Select item 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 50