ClinVar for Gene (Select 3841) - ClinVar

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Links from Gene

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3116184	NM_001366306.2(KPNA5):c.42G>A (p.Met14Ile)	KPNA5 (M11I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2601324	NM_001366306.2(KPNA5):c.842A>C (p.Tyr281Ser)	KPNA5 (Y281S +2 more)	Single nucleotide variant (missense variant)	not specified	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 2555161	NM_001366306.2(KPNA5):c.40A>C (p.Met14Leu)	KPNA5 (M11L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492504	NM_001366306.2(KPNA5):c.322A>G (p.Arg108Gly)	KPNA5 (R128G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463319	NM_001366306.2(KPNA5):c.913C>G (p.Leu305Val)	KPNA5 (L302V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427242	NC_000006.11:g.(?_116441236)_(119252888_?)del	TRAPPC3L, TSPYL4 +24 more	Deletion	Congenital disorder of glycosylation, type IAA	GPathogenic
Select item 2298488	NM_001366306.2(KPNA5):c.1251A>G (p.Ile417Met)	KPNA5 (I437M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287572	NM_001366306.2(KPNA5):c.1586A>G (p.Gln529Arg)	KPNA5 (Q526R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285158	NM_001366306.2(KPNA5):c.259G>A (p.Asp87Asn)	KPNA5 (D107N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276841	NM_001366306.2(KPNA5):c.673A>G (p.Asn225Asp)	KPNA5 (N222D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266142	NM_001366306.2(KPNA5):c.1577T>C (p.Ile526Thr)	KPNA5 (I546T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1703230	Single allele	AKAP7, ARG1 +400 more	Deletion	Interstitial 6q microdeletion syndrome	GPathogenic
Select item 1527280	GRCh37/hg19 6q22.1(chr6:116944106-117228916)	FAM162B, GPRC6A +4 more	Copy number gain	not specified	GUncertain significance
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 1409992	NC_000006.11:g.(?_116937787)_(117252669_?)dup	GPRC6A, FAM162B +4 more	Duplication	Primary ciliary dyskinesia	GUncertain significance
Select item 980220	GRCh37/hg19 6q22.1(chr6:116978714-117537404)x1	RFX6, GPRC6A +3 more	Copy number loss	not provided	GUncertain significance
Select item 978186	NC_000006.11:g.116734559_123648104del	ASF1A, CALHM4 +31 more	Deletion	Seizure +1 more	GPathogenic
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 688010	GRCh37/hg19 6q21-22.31(chr6:110981075-119608396)x1	AMD1, ASF1A +45 more	Copy number loss	not provided	GPathogenic
Select item 624551	GRCh37/hg19 6q22.1(chr6:116901182-117062990)x1	KPNA5, RSPH4A +2 more	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 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 217142	GRCh37/hg19 6q21-q22(chr6:112069445-120994664)x1	NT5DC1, TRAPPC3L +36 more	Copy number loss	6q21-6q22.1 deletion	GLikely pathogenic
Select item 180227	NC_000006.11:g.(116681080_116735056)_(119687719_119775014)del	ASF1A, CALHM4 +22 more	Deletion	Tremor +3 more	GPathogenic
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 148351	GRCh38/hg38 6q22.1(chr6:116617428-116979654)x1	FAM162B, GPRC6A +10 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 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: 41