ClinVar for Gene (Select 57563) - ClinVar

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Links from Gene

Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3358891	NM_020803.5(KLHL8):c.2476_2477del	KLHL8	Deletion (3 prime UTR variant +1 more)	Catecholaminergic polymorphic ventricular tachycardia	GUncertain significance
Select item 3289053	NM_020803.5(KLHL8):c.1570G>A (p.Val524Ile)	KLHL8 (V524I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115789	NM_020803.5(KLHL8):c.700G>A (p.Ala234Thr)	KLHL8 (A234T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115787	NM_020803.5(KLHL8):c.1664A>G (p.Lys555Arg)	KLHL8 (K479R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115786	NM_020803.5(KLHL8):c.1397G>T (p.Gly466Val)	KLHL8 (G390V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115785	NM_020803.5(KLHL8):c.1363T>C (p.Ser455Pro)	KLHL8 (S379P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115784	NM_020803.5(KLHL8):c.1274C>G (p.Thr425Ser)	KLHL8 (T242S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115782	NM_020803.5(KLHL8):c.101G>T (p.Ser34Ile)	KLHL8 (S34I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062764	GRCh37/hg19 4q21.21-22.3(chr4:81558759-95965995)x1	ABCG2, ABRAXAS1 +59 more	Copy number loss	not specified	GPathogenic
Select item 3062760	GRCh37/hg19 4q21.23-22.3(chr4:85139670-96295033)x3	ABCG2, AFF1 +40 more	Copy number gain	not specified	GLikely pathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2621425	NM_020803.5(KLHL8):c.1379A>G (p.Asn460Ser)	KLHL8 (N460S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605452	NM_020803.5(KLHL8):c.1273A>T (p.Thr425Ser)	KLHL8 (T242S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2579270	GRCh38/hg38 4q21.21-23(chr4:79123548-99457773)x1	ABCG2, ABRAXAS1 +338 more	Copy number loss	Chromosome 4q21 deletion syndrome	GPathogenic
Select item 2538177	NM_020803.5(KLHL8):c.964T>C (p.Cys322Arg)	KLHL8 (C139R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520298	NM_020803.5(KLHL8):c.1081G>T (p.Val361Leu)	KLHL8 (V285L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515247	NM_020803.5(KLHL8):c.800T>C (p.Met267Thr)	KLHL8 (M267T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464716	NM_020803.5(KLHL8):c.1592G>A (p.Ser531Asn)	KLHL8 (S455N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454952	NM_020803.5(KLHL8):c.1589G>A (p.Arg530Gln)	KLHL8 (R347Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396070	NM_020803.5(KLHL8):c.821A>G (p.Gln274Arg)	KLHL8 (Q198R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379603	NM_020803.5(KLHL8):c.836A>G (p.Asn279Ser)	KLHL8 (N279S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344652	NM_020803.5(KLHL8):c.1577G>A (p.Arg526Gln)	KLHL8 (R526Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312946	NM_020803.5(KLHL8):c.1396G>A (p.Gly466Ser)	KLHL8 (G283S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302535	NM_020803.5(KLHL8):c.1041C>G (p.Phe347Leu)	KLHL8 (F347L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301028	NM_020803.5(KLHL8):c.1120C>T (p.His374Tyr)	KLHL8 (H191Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287391	NM_020803.5(KLHL8):c.346G>A (p.Asp116Asn)	KLHL8 (D116N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256917	NM_020803.5(KLHL8):c.8C>T (p.Ser3Leu)	KLHL8 (S3L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227137	NM_020803.5(KLHL8):c.559A>G (p.Met187Val)	KLHL8 (M187V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2203971	NM_020803.5(KLHL8):c.317C>T (p.Thr106Met)	KLHL8 (T106M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1527108	GRCh37/hg19 4q21.23-22.1(chr4:85839771-93071150)	ABCG2, AFF1 +31 more	Copy number loss	not specified	GPathogenic
Select item 1527103	GRCh37/hg19 4q21.21-22.1(chr4:81054789-90667421)	ABCG2, ABRAXAS1 +53 more	Copy number loss	not specified	GPathogenic
Select item 1527100	GRCh37/hg19 4q21.21-22.2(chr4:79780152-94873225)	ABCG2, ABRAXAS1 +63 more	Copy number loss	not specified	GPathogenic
Select item 1527097	GRCh37/hg19 4q13.3-22.1(chr4:75737340-91131156)	ABCG2, ABRAXAS1 +91 more	Copy number gain	not specified	GPathogenic
Select item 1341211	GRCh37/hg19 4q21.21-22.1(chr4:80467886-93362064)x1	ABCG2, ABRAXAS1 +58 more	Copy number loss	not provided	GPathogenic
Select item 1340508	GRCh37/hg19 4q22.1(chr4:88063686-88517522)x3	HSD17B11, HSD17B13 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 980102	GRCh37/hg19 4q21.3-22.1(chr4:87704091-88223403)x3	AFF1, C4orf36 +3 more	Copy number gain	not provided	GUncertain significance
Select item 976807	Single allele	DMP1, ABCG2 +22 more	Deletion	Autosomal dominant polycystic kidney disease	GPathogenic
Select item 814581	GRCh37/hg19 4q21.3-22.1(chr4:87892839-88167344)x3	KLHL8, AFF1	Copy number gain	not provided	GUncertain significance
Select item 638111	GRCh37/hg19 4q21.21-22.1(chr4:80482400-92572499)x1	GPRIN3, HELQ +57 more	Copy number loss	See cases	GPathogenic
Select item 625784	GRCh37/hg19 4q21.21-22.1(chr4:82043901-88334228)	ABRAXAS1, AFF1 +28 more	Copy number loss	not provided	GPathogenic
Select item 562942	GRCh37/hg19 4q21.3-22.1(chr4:87984263-89193590)x3	AFF1, PPM1K +12 more	Copy number gain	not provided	GUncertain significance
Select item 562941	GRCh37/hg19 4q21.3-22.1(chr4:87945565-88228330)x3	KLHL8, AFF1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 562937	GRCh37/hg19 4q21.21-22.3(chr4:81314915-96636651)x1	ABCG2, ABRAXAS1 +60 more	Copy number loss	not provided	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394976	GRCh37/hg19 4q21.21-22.1(chr4:82283358-90341831)x1	ABCG2, ABRAXAS1 +47 more	Copy number loss	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 155391	GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	LOC129992695, LOC129992696 +533 more	Copy number gain	See cases	GPathogenic
Select item 152923	GRCh38/hg38 4q21.23-22.2(chr4:85449365-93973194)x1	ABCG2, AFF1 +126 more	Copy number loss	See cases	GPathogenic
Select item 148194	GRCh38/hg38 4q21.21-24(chr4:80427023-100855441)x1	ABCG2, ABRAXAS1 +335 more	Copy number loss	See cases	GPathogenic
Select item 147434	GRCh38/hg38 4q21.23-22.1(chr4:84329551-87679204)x1	AFF1, AFF1-AS1 +62 more	Copy number loss	See cases	GPathogenic
Select item 146049	GRCh38/hg38 4q21.3-22.1(chr4:86948317-87170510)x3	AFF1, KLHL8 +16 more	Copy number gain	See cases	GUncertain significance
Select item 145649	GRCh38/hg38 4q21.21-22.3(chr4:80879777-94809447)x1	ABCG2, ABRAXAS1 +244 more	Copy number loss	See cases	GPathogenic
Select item 144779	GRCh38/hg38 4q21.3-22.1(chr4:87067415-88158276)x3	ABCG2, AFF1 +32 more	Copy number gain	See cases	GUncertain significance
Select item 59455	GRCh38/hg38 4q21.21-22.1(chr4:79575748-92412449)x1	ABCG2, ABRAXAS1 +251 more	Copy number loss	See cases	GPathogenic
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

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Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

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Links from Gene

Items: 57