KLHL32[gene] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 146487	GRCh38/hg38 6q14.2-16.1(chr6:83838303-98822313)x1	SMIM8, SNHG5 +247 more	Copy number loss	See cases	GPathogenic
Select item 150641	GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1	AFG1L, AK9 +558 more	Copy number loss	See cases	GPathogenic
Select item 681254	NM_014165.2(NDUFAF4):c.-312T>C	KLHL32, NDUFAF4	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1205563	NC_000006.12:g.96898116CT[3]	KLHL32, NDUFAF4	Microsatellite (5 prime UTR variant)	not provided	GLikely benign
Select item 2533060	NM_052904.4(KLHL32):c.64G>A (p.Glu22Lys)	KLHL32 (E22K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3115677	NM_052904.4(KLHL32):c.92C>T (p.Ala31Val)	KLHL32 (A31V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2609869	NM_052904.4(KLHL32):c.104A>C (p.Gln35Pro)	KLHL32 (Q35P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2229300	NM_052904.4(KLHL32):c.164C>T (p.Ala55Val)	KLHL32 (A55V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3115674	NM_052904.4(KLHL32):c.287C>T (p.Ala96Val)	KLHL32 (A32V +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2327585	NM_052904.4(KLHL32):c.353C>A (p.Ala118Glu)	KLHL32 (A54E +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3115675	NM_052904.4(KLHL32):c.398A>G (p.His133Arg)	KLHL32 (H133R +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2551648	NM_052904.4(KLHL32):c.493G>A (p.Asp165Asn)	KLHL32 (D101N +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2302832	NM_052904.4(KLHL32):c.592C>T (p.Arg198Cys)	KLHL32 (R129C +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2562596	NM_052904.4(KLHL32):c.593G>A (p.Arg198His)	KLHL32 (R162H +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2518665	NM_052904.4(KLHL32):c.710A>C (p.Asp237Ala)	KLHL32 (D14A +6 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2656778	NM_052904.4(KLHL32):c.753C>T (p.Val251=)	KLHL32 (P278S)	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2612751	NM_052904.4(KLHL32):c.811A>G (p.Ile271Val)	KLHL32 (I199V +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2610933	NM_052904.4(KLHL32):c.815A>G (p.Tyr272Cys)	KLHL32 (Y136C +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3115676	NM_052904.4(KLHL32):c.880A>G (p.Ile294Val)	KLHL32 (I225V +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2408586	NM_052904.4(KLHL32):c.892A>G (p.Lys298Glu)	KLHL32 (K298E +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2212478	NM_052904.4(KLHL32):c.913A>G (p.Lys305Glu)	KLHL32 (K233E +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2283069	NM_052904.4(KLHL32):c.964G>C (p.Ala322Pro)	KLHL32 (A186P +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2314671	NM_052904.4(KLHL32):c.1118C>G (p.Pro373Arg)	KLHL32 (P304R +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2469923	NM_052904.4(KLHL32):c.1121G>A (p.Arg374His)	KLHL32 (R305H +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3115671	NM_052904.4(KLHL32):c.1124G>C (p.Ser375Thr)	KLHL32 (S152T +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2617947	NM_052904.4(KLHL32):c.1135G>T (p.Ala379Ser)	KLHL32 (A156S +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3115672	NM_052904.4(KLHL32):c.1181G>A (p.Gly394Asp)	KLHL32 (G322D +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2594149	NM_052904.4(KLHL32):c.1229G>A (p.Arg410His)	KLHL32 (R338H +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3115673	NM_052904.4(KLHL32):c.1243A>G (p.Thr415Ala)	KLHL32 (T192A +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3288992	NM_052904.4(KLHL32):c.1250A>G (p.Glu417Gly)	KLHL32 (E281G +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2234730	NM_052904.4(KLHL32):c.1258T>C (p.Cys420Arg)	KLHL32 (C284R +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2335994	NM_052904.4(KLHL32):c.1289A>G (p.Gln430Arg)	KLHL32 (Q358R +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2205597	NM_052904.4(KLHL32):c.1540C>T (p.Arg514Cys)	KLHL32 (R445C +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3288993	NM_052904.4(KLHL32):c.1619C>G (p.Ser540Cys)	KLHL32 (S471C +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3062939	GRCh37/hg19 6q15-16.3(chr6:91677067-101879124)x3	ASCC3, CCNC +20 more	Copy number gain	not specified	GUncertain significance
Select item 2685211	GRCh37/hg19 6q15-21(chr6:92468126-109410569)x1	AFG1L, ARMC2 +43 more	Copy number loss	not provided	GPathogenic
Select item 1807838	GRCh37/hg19 6q16.1-21(chr6:96596732-105554568)x1	ASCC3, BVES +21 more	Copy number loss	not provided	GPathogenic
Select item 1807814	GRCh37/hg19 6q16.1-21(chr6:96946110-106497526)x1	ASCC3, BVES +22 more	Copy number loss	not provided	GPathogenic
Select item 1711170	GRCh37/hg19 6q14.1-16.1(chr6:78911022-98909173)x1	AKIRIN2, ANKRD6 +65 more	Copy number loss	See cases	GUncertain significance
Select item 1527267	GRCh37/hg19 6q15-16.3(chr6:92576950-104658245)	ASCC3, CCNC +20 more	Copy number loss	not specified	GPathogenic
Select item 1527266	GRCh37/hg19 6q15-22.2(chr6:92054891-118329651)	AFG1L, AK9 +98 more	Copy number loss	not specified	GPathogenic
Select item 1527263	GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)	AFG1L, AK9 +138 more	Copy number loss	not specified	GPathogenic
Select item 563204	GRCh37/hg19 6q16.1-22.1(chr6:95549951-116684929)x1	AFG1L, AK9 +80 more	Copy number loss	not provided	GPathogenic
Select item 563199	GRCh37/hg19 6q14.1-16.1(chr6:81261418-97796269)x3	AKIRIN2, ANKRD6 +56 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443296	GRCh37/hg19 6q16.1-21(chr6:94202605-109878834)x1	ZBTB24, AFG1L +49 more	Copy number loss	See cases	GPathogenic
Select item 442063	GRCh37/hg19 6q16.1-21(chr6:97384446-110247755)x1	AFG1L, AK9 +44 more	Copy number loss	See cases	GPathogenic

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Items: 49