"GeneDx"[submitter] AND "KLHL24"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 1222273	NM_017644.3(KLHL24):c.-61-147T>C	KLHL24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288159	NM_017644.3(KLHL24):c.-61-79G>A	KLHL24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 432253	NM_017644.3(KLHL24):c.1A>T (p.Met1Leu)	KLHL24 (M1L)	Single nucleotide variant (missense variant +3 more)	not provided	GPathogenic
Select item 264648	NM_017644.3(KLHL24):c.1A>G (p.Met1Val)	KLHL24 (M1V)	Single nucleotide variant (missense variant +3 more)	Epidermolysis bullosa simplex, Koebner type +2 more	GPathogenic
Select item 1302789	NM_017644.3(KLHL24):c.72A>T (p.Arg24=)	KLHL24	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 450020	NM_017644.3(KLHL24):c.442A>G (p.Ile148Val)	KLHL24 (I148V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1261504	NM_017644.3(KLHL24):c.603C>T (p.His201=)	KLHL24	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 1241603	NM_017644.3(KLHL24):c.747C>T (p.His249=)	KLHL24	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 1226880	NM_017644.3(KLHL24):c.920+260A>C	KLHL24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289731	NM_017644.3(KLHL24):c.921-262T>A	KLHL24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268025	NM_017644.3(KLHL24):c.921-222G>C	KLHL24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272692	NM_017644.3(KLHL24):c.921-173C>G	KLHL24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266596	NM_017644.3(KLHL24):c.1225-296G>A	KLHL24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286525	NM_017644.3(KLHL24):c.1414-158G>A	KLHL24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295540	NM_017644.3(KLHL24):c.1414-54T>C	KLHL24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271363	NM_017644.3(KLHL24):c.1602+146C>T	KLHL24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222294	NM_017644.3(KLHL24):c.1603-163C>T	KLHL24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267182	NM_017644.3(KLHL24):c.1603-159_1603-158del	KLHL24	Deletion (intron variant)	not provided	GBenign
Select item 1237482	NM_017644.3(KLHL24):c.1603-153_1603-149del	KLHL24	Deletion (intron variant)	not provided	GBenign
Select item 1178666	NM_017644.3(KLHL24):c.*159A>G	KLHL24	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	AADAC, AADACL2 +220 more	Copy number gain	See cases	GPathogenic
Select item 3361049	NM_017644.3(KLHL24):c.1575G>A (p.Met525Ile)	KLHL24 (M244I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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Items: 24