ClinVar for Gene (Select 136259) - ClinVar

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Links from Gene

Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3115294	NM_138693.4(KLF14):c.856G>C (p.Glu286Gln)	KLF14 (E286Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115293	NM_138693.4(KLF14):c.476C>T (p.Ala159Val)	KLF14 (A159V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115292	NM_138693.4(KLF14):c.437A>C (p.Asp146Ala)	KLF14 (D146A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115290	NM_138693.4(KLF14):c.325C>T (p.Arg109Cys)	KLF14 (R109C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115289	NM_138693.4(KLF14):c.241C>G (p.Pro81Ala)	KLF14 (P81A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115288	NM_138693.4(KLF14):c.194A>G (p.Gln65Arg)	KLF14 (Q65R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115286	NM_138693.4(KLF14):c.149C>A (p.Ser50Tyr)	KLF14 (S50Y)	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 3032009	NM_138693.4(KLF14):c.946_948dup (p.Ala316_Pro317insAla)	KLF14	Duplication (inframe insertion)	KLF14-related disorder	GLikely benign
Select item 2529092	NM_138693.4(KLF14):c.251T>C (p.Leu84Pro)	KLF14 (L84P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489586	NM_138693.4(KLF14):c.569C>T (p.Pro190Leu)	KLF14 (P190L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471824	NM_138693.4(KLF14):c.568C>T (p.Pro190Ser)	KLF14 (P190S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457991	NM_138693.4(KLF14):c.303G>C (p.Trp101Cys)	KLF14 (W101C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424285	NC_000007.13:g.(?_130020362)_(130667121_?)del	CEP41, COPG2 +8 more	Deletion	not provided	GUncertain significance
Select item 2387040	NM_138693.4(KLF14):c.547C>T (p.Pro183Ser)	KLF14 (P183S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380478	NM_138693.4(KLF14):c.551G>A (p.Arg184Gln)	KLF14 (R184Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379661	NM_138693.4(KLF14):c.880C>G (p.Pro294Ala)	KLF14 (P294A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340493	NM_138693.4(KLF14):c.965G>C (p.Cys322Ser)	KLF14 (C322S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333698	NM_138693.4(KLF14):c.944C>T (p.Pro315Leu)	KLF14 (P315L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329263	NM_138693.4(KLF14):c.923C>T (p.Ala308Val)	KLF14 (A308V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326973	NM_138693.4(KLF14):c.82C>G (p.Arg28Gly)	KLF14, LOC129999351 (R28G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315111	NM_138693.4(KLF14):c.947C>T (p.Ala316Val)	KLF14 (A316V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275984	NM_138693.4(KLF14):c.121T>C (p.Ser41Pro)	KLF14 (S41P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275082	NM_138693.4(KLF14):c.547C>A (p.Pro183Thr)	KLF14 (P183T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266924	NM_138693.4(KLF14):c.182C>T (p.Ala61Val)	KLF14 (A61V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250759	NM_138693.4(KLF14):c.199C>G (p.Pro67Ala)	KLF14 (P67A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237215	NM_138693.4(KLF14):c.245A>G (p.His82Arg)	KLF14 (H82R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236317	NM_138693.4(KLF14):c.217A>C (p.Ser73Arg)	KLF14 (S73R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234203	NM_138693.4(KLF14):c.197T>C (p.Leu66Pro)	KLF14 (L66P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233218	NM_138693.4(KLF14):c.498C>G (p.Phe166Leu)	KLF14 (F166L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208078	NM_138693.4(KLF14):c.52T>G (p.Ser18Ala)	KLF14, LOC129999351 (S18A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208077	NM_138693.4(KLF14):c.410C>T (p.Ala137Val)	KLF14 (A137V)	Single nucleotide variant (missense variant)	not specified	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 1527399	GRCh37/hg19 7q32.2-32.3(chr7:130295389-132435722)	COPG2, KLF14 +6 more	Copy number gain	not specified	GUncertain significance
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 815034	GRCh37/hg19 7q32.2-33(chr7:129997717-133355098)x3	MIR29A, MIR335 +14 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 687821	GRCh37/hg19 7q32.2-32.3(chr7:130032531-130590540)x3	CEP41, COPG2 +7 more	Copy number gain	not provided	GUncertain significance
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
Select item 154485	GRCh38/hg38 7q31.33-33(chr7:124170657-134163594)x1	COPG2, COPG2IT1 +342 more	Copy number loss	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	LOC129999548, LOC129999549 +1547 more	Copy number gain	See cases	GPathogenic
Select item 151567	GRCh38/hg38 7q32.2-32.3(chr7:130652821-131101662)x3	LOC129999353, LOC129999354 +40 more	Copy number gain	See cases	GUncertain significance
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	LOC129999653, LOC129999654 +1380 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 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC129999343, LOC129999344 +2213 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC126860263, LOC126860264 +4737 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	C7orf33, CALD1 +1176 more	Copy number gain	See cases	GPathogenic

ClinVar

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Germline classification

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Molecular consequence

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Links from Gene

Items: 60