ClinVar for Gene (Select 151230) - ClinVar

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Links from Gene

Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3115563	NM_144711.6(KLHL23):c.798G>T (p.Glu266Asp)	KLHL23, PHOSPHO2-KLHL23 (E266D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115562	NM_144711.6(KLHL23):c.727A>G (p.Arg243Gly)	KLHL23, PHOSPHO2-KLHL23 (R243G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115561	NM_144711.6(KLHL23):c.556A>G (p.Ile186Val)	KLHL23, PHOSPHO2-KLHL23 (I186V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115560	NM_144711.6(KLHL23):c.160G>A (p.Val54Ile)	KLHL23, PHOSPHO2-KLHL23 (V54I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115559	NM_144711.6(KLHL23):c.1579A>G (p.Ile527Val)	KLHL23, PHOSPHO2-KLHL23 (I527V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115558	NM_144711.6(KLHL23):c.1459G>C (p.Glu487Gln)	KLHL23, PHOSPHO2-KLHL23 (E487Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115557	NM_144711.6(KLHL23):c.1340G>A (p.Ser447Asn)	KLHL23, PHOSPHO2-KLHL23 (S447N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062617	GRCh37/hg19 2q24.2-31.1(chr2:162692199-174452488)x1	ABCB11, B3GALT1 +57 more	Copy number loss	not specified	GPathogenic
Select item 2605329	NM_144711.6(KLHL23):c.1492A>G (p.Arg498Gly)	KLHL23, PHOSPHO2-KLHL23 (R498G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599600	NM_144711.6(KLHL23):c.1504G>A (p.Gly502Ser)	KLHL23, PHOSPHO2-KLHL23 (G502S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590397	NM_144711.6(KLHL23):c.1195A>G (p.Ile399Val)	KLHL23, PHOSPHO2-KLHL23 (I399V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455304	NM_144711.6(KLHL23):c.1457A>C (p.Asn486Thr)	KLHL23, PHOSPHO2-KLHL23 (N486T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406918	NM_144711.6(KLHL23):c.1565C>T (p.Thr522Met)	KLHL23, PHOSPHO2-KLHL23 (T522M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403368	NM_144711.6(KLHL23):c.1673T>A (p.Val558Asp)	KLHL23, PHOSPHO2-KLHL23 (V558D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356660	NM_144711.6(KLHL23):c.650A>G (p.Glu217Gly)	KLHL23, PHOSPHO2-KLHL23 (E217G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327849	NM_144711.6(KLHL23):c.49A>G (p.Thr17Ala)	KLHL23, PHOSPHO2-KLHL23 (T17A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2316745	NM_144711.6(KLHL23):c.158C>T (p.Ala53Val)	KLHL23, PHOSPHO2-KLHL23 (A53V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298173	NM_144711.6(KLHL23):c.991G>A (p.Asp331Asn)	KLHL23, PHOSPHO2-KLHL23 (D331N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270156	NM_144711.6(KLHL23):c.887C>T (p.Thr296Ile)	KLHL23, PHOSPHO2-KLHL23 (T296I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 1339653	GRCh37/hg19 2q24.2-31.1(chr2:160347642-174075851)x1	ABCB11, B3GALT1 +67 more	Copy number loss	2q24 microdeletion syndrome	GPathogenic
Select item 981210	GRCh37/hg19 2q24.2-31.3(chr2:163078055-182119617)x1	ABCB11, AGPS +97 more	Copy number loss	2q24 microdeletion syndrome	GPathogenic
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 791119	NM_144711.6(KLHL23):c.791A>G (p.His264Arg)	KLHL23, PHOSPHO2-KLHL23 (H264R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 687517	GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1	ABCB11, AGPS +125 more	Copy number loss	not provided	GPathogenic
Select item 443256	GRCh37/hg19 2q31.1(chr2:169727951-170825165)x1	ABCB11, BBS5 +13 more	Copy number loss	See cases	GUncertain significance
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 253638	GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3	ABCB11, ACVR1 +129 more	Copy number gain	See cases	GPathogenic
Select item 187824	GRCh37/hg19 2q24.3-31.1(chr2:167996718-170671886)x1	CERS6, SSB +17 more	Copy number loss	See cases	GLikely pathogenic
Select item 154177	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	LOC129935011, LOC129935012 +530 more	Copy number gain	See cases	GPathogenic
Select item 150637	GRCh38/hg38 2q24.3-31.1(chr2:168884350-169959279)x1	ABCB11, BBS5 +33 more	Copy number loss	See cases	GUncertain significance
Select item 147950	GRCh38/hg38 2q31.1(chr2:169206895-170039471)x1	CFAP210, BBS5 +28 more	Copy number loss	See cases	GUncertain significance
Select item 60249	GRCh38/hg38 2q24.3-31.1(chr2:164066038-172097886)x1	LOC129935070, LOC129935071 +162 more	Copy number loss	See cases	GPathogenic
Select item 60248	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	ABCB11, AGPS +488 more	Copy number loss	See cases	GPathogenic
Select item 57491	GRCh38/hg38 2q24.3-31.1(chr2:164850117-175559190)x1	ABCB11, ATF2 +269 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 37