ClinVar for Gene (Select 89857) - ClinVar

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Links from Gene

Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148910	GRCh37/hg19 3q26.33-29(chr3:179313373-197851444)x3	ABCC5, ABCF3 +136 more	Copy number gain	See cases	GPathogenic
Select item 3115780	NM_130446.4(KLHL6):c.791C>T (p.Pro264Leu)	KLHL6, LOC126806888 (P264L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115779	NM_130446.4(KLHL6):c.709G>C (p.Glu237Gln)	KLHL6, LOC126806888 (E237Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115778	NM_130446.4(KLHL6):c.1775T>G (p.Leu592Arg)	KLHL6 (L592R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115777	NM_130446.4(KLHL6):c.1232G>T (p.Arg411Leu)	KLHL6 (R411L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062712	GRCh37/hg19 3q26.33-27.2(chr3:179391972-185539073)x1	ABCC5, ABCF3 +47 more	Copy number loss	not specified	GPathogenic
Select item 2671619	Single allele	ABCC5, ABCF3 +145 more	Duplication	not provided	GPathogenic
Select item 2671595	Single allele	AADAC, AADACL2 +286 more	Duplication	not provided	GPathogenic
Select item 2617005	NM_130446.4(KLHL6):c.1315G>C (p.Glu439Gln)	KLHL6 (E439Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608199	NM_130446.4(KLHL6):c.887T>G (p.Met296Arg)	KLHL6, LOC126806888 (M296R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595762	NM_130446.4(KLHL6):c.775G>A (p.Glu259Lys)	KLHL6, LOC126806888 (E259K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2565338	NM_130446.4(KLHL6):c.1570G>T (p.Ala524Ser)	KLHL6 (A524S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553686	NM_130446.4(KLHL6):c.25G>A (p.Ala9Thr)	KLHL6 (A9T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2488851	NM_130446.4(KLHL6):c.730C>T (p.Arg244Trp)	KLHL6, LOC126806888 (R244W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486504	NM_130446.4(KLHL6):c.73G>C (p.Ala25Pro)	KLHL6 (A25P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478058	NM_130446.4(KLHL6):c.1087G>A (p.Glu363Lys)	KLHL6 (E363K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473058	NM_130446.4(KLHL6):c.671G>A (p.Ser224Asn)	KLHL6, LOC126806888 (S224N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425419	NC_000003.11:g.(?_182733226)_(184094097_?)del	ABCC5, ABCF3 +26 more	Deletion	ALG3-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 2400821	NM_130446.4(KLHL6):c.1433A>G (p.Asn478Ser)	KLHL6 (N478S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383393	NM_130446.4(KLHL6):c.475G>C (p.Asp159His)	KLHL6, LOC126806888 (D159H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331096	NM_130446.4(KLHL6):c.1061C>T (p.Pro354Leu)	KLHL6 (P354L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300161	NM_130446.4(KLHL6):c.922C>A (p.Arg308Ser)	KLHL6 (R308S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808973	GRCh37/hg19 3q27.1(chr3:183221092-183243609)x1	KLHL6	Copy number loss	not provided	GUncertain significance
Select item 1710512	GRCh37/hg19 3q26.33-27.2(chr3:181062175-185474509)x1	DCUN1D1, ALG3 +41 more	Copy number loss	not provided	GPathogenic
Select item 1707630	GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3	CCDC50, MELTF +155 more	Copy number gain	Isolated anorectal malformation	GLikely pathogenic
Select item 1527063	GRCh37/hg19 3q27.1-27.3(chr3:183178932-186838042)	ABCC5, ABCF3 +49 more	Copy number loss	not specified	GPathogenic
Select item 1527061	GRCh37/hg19 3q26.33-27.3(chr3:182189525-187212935)	ABCC5, ABCF3 +59 more	Copy number loss	not specified	GPathogenic
Select item 1328104	GRCh37/hg19 3q26.31-27.3(chr3:175119199-187592480)x3	ABCC5, ABCF3 +82 more	Copy number gain	not provided	GPathogenic
Select item 986761	GRCh37/hg19 3q26.33-27.1(chr3:180834336-183551661)x1	ATP11B, SOX2 +11 more	Copy number loss	Anophthalmia/microphthalmia-esophageal atresia syndrome	GPathogenic
Select item 986756	GRCh37/hg19 3q26.33-27.2(chr3:181171210-184706091)x1	ECE2, FAM131A +34 more	Copy number loss	Anophthalmia/microphthalmia-esophageal atresia syndrome	GPathogenic
Select item 980554	GRCh37/hg19 3q27.1-27.3(chr3:182877291-186830759)x1	CLCN2, YEATS2 +52 more	Copy number loss	not provided	GPathogenic
Select item 814497	GRCh37/hg19 3q26.2-28(chr3:169617690-190593854)x3	FXR1, HTR3D +113 more	Copy number gain	not provided	GPathogenic
Select item 562848	GRCh37/hg19 3q26.33-28(chr3:182650681-191275809)x1	KNG1, FETUB +75 more	Copy number loss	not provided	GPathogenic
Select item 562847	GRCh37/hg19 3q26.33-29(chr3:182539234-197851986)x3	PPP1R2, TBCCD1 +126 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +1054 more	Copy number gain	See cases	GPathogenic
Select item 393885	GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3	LRRC31, MCCC1 +198 more	Copy number gain	See cases	GPathogenic
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	PTX3, MIR1224 +220 more	Copy number gain	See cases	GPathogenic
Select item 224832	NC_000003.12:g.177772523_185716872dup	ALG3, AP2M1 +280 more	Duplication	Currarino triad	GLikely pathogenic
Select item 222965	NM_130446.4(KLHL6):c.247T>C (p.Phe83Leu)	KLHL6 (F83L)	Single nucleotide variant (missense variant)	Monoclonal B-Cell Lymphocytosis	GUncertain significance
Select item 222964	NM_130446.4(KLHL6):c.268C>G (p.Leu90Val)	KLHL6 (L90V)	Single nucleotide variant (missense variant)	Monoclonal B-Cell Lymphocytosis	GUncertain significance
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938326, LOC129938327 +1064 more	Copy number gain	See cases	GPathogenic
Select item 155230	GRCh38/hg38 3q27.1(chr3:183521497-184472038)x1	ABCC5, ABCC5-AS1 +85 more	Copy number loss	See cases	GLikely pathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC129938312, LOC129938313 +1246 more	Copy number gain	See cases	GPathogenic
Select item 153971	GRCh38/hg38 3q26.33-27.3(chr3:182319764-186443121)x1	ABCC5, ABCC5-AS1 +205 more	Copy number loss	See cases	GLikely pathogenic
Select item 153893	GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3	ABCC5, ABCC5-AS1 +627 more	Copy number gain	See cases	GLikely pathogenic
Select item 153734	GRCh38/hg38 3q26.33-28(chr3:181138664-192512023)x1	ABCC5, ABCC5-AS1 +399 more	Copy number loss	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	LOC129937897, LOC129937898 +1244 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938007, LOC129938008 +1317 more	Copy number gain	See cases	GPathogenic
Select item 149685	GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3	ABCC5, ABCC5-AS1 +867 more	Copy number gain	See cases	GPathogenic
Select item 149403	GRCh38/hg38 3q26.33-27.1(chr3:182865842-183895718)x3	ATP11B, B3GNT5 +55 more	Copy number gain	See cases	GUncertain significance
Select item 148947	GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3	ZMAT3, ZNF639 +866 more	Copy number gain	See cases	GPathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	LOC129938320, LOC129938321 +1041 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC129937268, LOC129937269 +2645 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC129938023, LOC129938024 +1200 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	BDH1, C3orf33 +1449 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 56