ClinVar for Gene (Select 2444) - ClinVar

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Links from Gene

Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062896	GRCh37/hg19 6q21-23.2(chr6:110546061-131896074)x3	AKAP7, AMD1 +87 more	Copy number gain	not specified	GLikely pathogenic
Select item 2689093	NM_002031.3(FRK):c.1253C>G (p.Ser418Ter)	FRK (S418*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2589467	NM_002031.3(FRK):c.1217G>A (p.Arg406His)	FRK (R406H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2579265	GRCh38/hg38 6q21-23.1(chr6:113857248-130442177)x1	ARHGAP18, ASF1A +316 more	Copy number loss	Intellectual disability, autosomal dominant 55, with seizures	GPathogenic
Select item 2574685	GRCh37/hg19 6q21-22.31(chr6:112713854-124105184)	ASF1A, CALHM4 +39 more	Copy number loss	6q terminal deletion syndrome	GLikely pathogenic
Select item 2529008	NM_002031.3(FRK):c.412G>A (p.Gly138Ser)	FRK (G138S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519448	NM_002031.3(FRK):c.427A>G (p.Arg143Gly)	FRK (R143G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515333	NM_002031.3(FRK):c.1280T>C (p.Ile427Thr)	FRK (I427T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510935	NM_002031.3(FRK):c.126G>T (p.Arg42Ser)	FRK (R42S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486161	NM_002031.3(FRK):c.215T>C (p.Leu72Pro)	FRK (L72P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471823	NM_002031.3(FRK):c.416C>T (p.Ser139Phe)	FRK (S139F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359912	NM_002031.3(FRK):c.1054C>A (p.His352Asn)	FRK (H352N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358115	NM_002031.3(FRK):c.481G>A (p.Val161Ile)	FRK (V161I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346362	NM_002031.3(FRK):c.62C>T (p.Thr21Met)	FRK (T21M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291323	NM_002031.3(FRK):c.970T>C (p.Ser324Pro)	FRK (S324P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279900	NM_002031.3(FRK):c.456C>G (p.Phe152Leu)	FRK (F152L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268567	NM_002031.3(FRK):c.409A>T (p.Thr137Ser)	FRK (T137S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251630	NM_002031.3(FRK):c.1223A>G (p.Asn408Ser)	FRK (N408S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240279	NM_002031.3(FRK):c.1486T>C (p.Ser496Pro)	FRK (S496P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225318	NM_002031.3(FRK):c.688G>A (p.Asp230Asn)	FRK (D230N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1703230	Single allele	AKAP7, ARG1 +400 more	Deletion	Interstitial 6q microdeletion syndrome	GPathogenic
Select item 1527278	GRCh37/hg19 6q22.1-22.31(chr6:116212698-119482708)	DCBLD1, DSE +26 more	Copy number loss	not specified	GPathogenic
Select item 1527266	GRCh37/hg19 6q15-22.2(chr6:92054891-118329651)	FBXL4, WASF1 +98 more	Copy number loss	not specified	GPathogenic
Select item 1527263	GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)	CALHM4, PRDM13 +138 more	Copy number loss	not specified	GPathogenic
Select item 1162776	NM_002031.3(FRK):c.484G>A (p.Val162Ile)	FRK (V162I)	Single nucleotide variant (missense variant)	Hemifacial microsomia	GUncertain significance
Select item 974790	GRCh37/hg19 6q16.3-22.1(chr6:101296547-117004249)x3	DSE, FAM229B +69 more	Copy number gain	Microcephaly +1 more	GPathogenic
Select item 814866	GRCh37/hg19 6q22.1(chr6:116299848-116395768)x1	FRK	Copy number loss	not provided	GLikely benign
Select item 688010	GRCh37/hg19 6q21-22.31(chr6:110981075-119608396)x1	AMD1, ASF1A +45 more	Copy number loss	not provided	GPathogenic
Select item 687385	GRCh37/hg19 6q22.1(chr6:116371057-116515290)x3	COL10A1, FRK +1 more	Copy number gain	not provided	GUncertain significance
Select item 686409	GRCh37/hg19 6q22.1(chr6:116157519-116398154)x1	FRK	Copy number loss	not provided	GUncertain significance
Select item 563222	GRCh37/hg19 6q21-22.1(chr6:113261042-117842826)x1	CALHM4, CALHM5 +21 more	Copy number loss	not provided	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 523159	GRCh37/hg19 6q21-23.2(chr6:112939290-132327952)x1	EPB41L2, FABP7 +73 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic
Select item 441924	GRCh37/hg19 6q22.1(chr6:115063620-116290736)x1	FRK	Copy number loss	See cases	GUncertain significance
Select item 425540	GRCh37/hg19 6q21-22.1(chr6:114318401-116957002)x3	FRK, HS3ST5 +12 more	Copy number gain	not provided	GUncertain significance
Select item 217142	GRCh37/hg19 6q21-q22(chr6:112069445-120994664)x1	NT5DC1, TRAPPC3L +36 more	Copy number loss	6q21-6q22.1 deletion	GLikely pathogenic
Select item 180224	NC_000006.11:g.(112511751_112511752)_(118037595_118037596)del	KPNA5, LAMA4 +25 more	Deletion	Delayed speech and language development +2 more	GPathogenic
Select item 155160	GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1	LOC129997076, LOC129997077 +460 more	Copy number loss	See cases	GPathogenic
Select item 153088	GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1	AFG1L, AK9 +472 more	Copy number loss	See cases	GPathogenic
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC123775388, LOC123775389 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150641	GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1	LOC129389591, LOC129389592 +558 more	Copy number loss	See cases	GPathogenic
Select item 149820	GRCh38/hg38 6q21-22.1(chr6:113997278-116053529)x1	FRK, HDAC2-AS2 +12 more	Copy number loss	See cases	GUncertain significance
Select item 146318	GRCh38/hg38 6q22.1-22.2(chr6:115326962-117935240)x1	LOC129997064, LOC129997065 +91 more	Copy number loss	See cases	GLikely pathogenic
Select item 59526	GRCh38/hg38 6q22.1(chr6:115890731-116427566)x3	COL10A1, DSE +31 more	Copy number gain	See cases	GUncertain significance
Select item 58442	GRCh38/hg38 6q22.1-22.33(chr6:115601230-128514324)x1	LOC129389639, LOC129389640 +254 more	Copy number loss	See cases	GPathogenic
Select item 58441	GRCh38/hg38 6q22.1(chr6:115220054-117196371)x1	CALHM4, CALHM5 +64 more	Copy number loss	See cases	GPathogenic
Select item 57486	GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1	AK9, AKAP7 +519 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 52