KLHDC10[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149172	GRCh38/hg38 7q31.2-33(chr7:117326805-134790689)x1	LOC129999373, LOC129999374 +492 more	Copy number loss	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 154485	GRCh38/hg38 7q31.33-33(chr7:124170657-134163594)x1	COPG2, COPG2IT1 +342 more	Copy number loss	See cases	GPathogenic
Select item 60295	GRCh38/hg38 7q31.33-32.3(chr7:126859732-132750936)x1	LOC129999356, LOC129999357 +284 more	Copy number loss	See cases	GPathogenic
Select item 57379	GRCh38/hg38 7q32.1-33(chr7:128747478-134018250)x3	AHCYL2, ATP6V1F +233 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	ABCB8, ABCF2 +1176 more	Copy number gain	See cases	GPathogenic
Select item 2400134	NM_014997.4(KLHDC10):c.85G>C (p.Gly29Arg)	KLHDC10, LOC129999335 (G29R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115365	NM_014997.4(KLHDC10):c.179T>G (p.Ile60Arg)	KLHDC10 (I60R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115366	NM_014997.4(KLHDC10):c.202C>T (p.Arg68Cys)	KLHDC10 (R68C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251201	NM_014997.4(KLHDC10):c.437C>T (p.Thr146Ile)	KLHDC10 (T146I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539597	NM_014997.4(KLHDC10):c.515C>T (p.Thr172Met)	KLHDC10 (T172M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320671	NM_014997.4(KLHDC10):c.598C>T (p.Arg200Trp)	KLHDC10 (R200W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288848	NM_014997.4(KLHDC10):c.614G>A (p.Ser205Asn)	KLHDC10 (S205N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115367	NM_014997.4(KLHDC10):c.851A>T (p.Tyr284Phe)	KLHDC10 (Y284F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288847	NM_014997.4(KLHDC10):c.1013T>C (p.Val338Ala)	KLHDC10 (V338A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234894	NM_014997.4(KLHDC10):c.1051T>C (p.Phe351Leu)	KLHDC10 (F351L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239533	NM_014997.4(KLHDC10):c.1172G>A (p.Arg391Gln)	KLHDC10 (R391Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062992	GRCh37/hg19 7q31.31-33(chr7:120582003-137699953)x1	AASS, AGBL3 +100 more	Copy number loss	not specified	GPathogenic
Select item 1809263	GRCh37/hg19 7q32.2(chr7:129442838-129877274)x3	KLHDC10, SSMEM1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1808208	GRCh37/hg19 7q32.1-33(chr7:129147455-132777678)x1	CEP41, CHCHD3 +25 more	Copy number loss	not provided	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527395	GRCh37/hg19 7q32.1-34(chr7:127295698-139524358)	CHCHD3, CHRM2 +88 more	Copy number loss	not specified	GPathogenic
Select item 1527394	GRCh37/hg19 7q31.33-33(chr7:124103982-134693590)	BPGM, CALD1 +65 more	Copy number loss	not specified	GPathogenic
Select item 1527391	GRCh37/hg19 7q31.33-33(chr7:123967475-132729981)	ZC3HC1, ZNF800 +55 more	Copy number loss	not specified	GPathogenic
Select item 979795	GRCh37/hg19 7q32.2-33(chr7:129605827-133093756)x3	CPA5, MEST +20 more	Copy number gain	not provided	GUncertain significance
Select item 815017	GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3	CHRM2, KRBA1 +295 more	Copy number gain	not provided	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 625550	GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220)	ABCB8, ABCF2 +229 more	Copy number gain	not provided	GPathogenic
Select item 617479	Single allele	DGKI, SVOPL +74 more	Complex	Renal transitional cell carcinoma	GLikely pathogenic
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic

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Items: 37