221303[Gene ID] - ClinVar

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Items: 48

	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 150641	GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1	AFG1L, AK9 +558 more	Copy number loss	See cases	GPathogenic
Select item 155160	GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1	LOC126859762, LOC126859763 +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 57486	GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1	AK9, AKAP7 +519 more	Copy number loss	See cases	GPathogenic
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 58441	GRCh38/hg38 6q22.1(chr6:115220054-117196371)x1	CALHM4, CALHM5 +64 more	Copy number loss	See cases	GPathogenic
Select item 146318	GRCh38/hg38 6q22.1-22.2(chr6:115326962-117935240)x1	CALHM4, CALHM5 +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 1703230	Single allele	AKAP7, ARG1 +400 more	Deletion	Interstitial 6q microdeletion syndrome	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 2288438	NM_001085480.3(FAM162B):c.376G>C (p.Val126Leu)	FAM162B (V126L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477114	NM_001085480.3(FAM162B):c.355A>G (p.Ile119Val)	FAM162B (I119V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091951	NM_001085480.3(FAM162B):c.352A>G (p.Ile118Val)	FAM162B (I118V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328487	NM_001085480.3(FAM162B):c.344G>C (p.Gly115Ala)	FAM162B (G115A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091950	NM_001085480.3(FAM162B):c.341T>C (p.Ile114Thr)	FAM162B (I114T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277217	NM_001085480.3(FAM162B):c.293T>C (p.Ile98Thr)	FAM162B (I98T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314766	NM_001085480.3(FAM162B):c.238A>G (p.Thr80Ala)	FAM162B (T80A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091949	NM_001085480.3(FAM162B):c.220A>G (p.Lys74Glu)	FAM162B (K74E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269010	NM_001085480.3(FAM162B):c.200G>A (p.Arg67His)	FAM162B (R67H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2237043	NM_001085480.3(FAM162B):c.185G>C (p.Arg62Pro)	FAM162B (R62P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236411	NM_001085480.3(FAM162B):c.185G>A (p.Arg62Gln)	FAM162B (R62Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277216	NM_001085480.3(FAM162B):c.153T>G (p.Asn51Lys)	FAM162B (N51K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410006	NM_001085480.3(FAM162B):c.67G>A (p.Ala23Thr)	FAM162B (A23T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217639	NM_001085480.3(FAM162B):c.65G>A (p.Gly22Glu)	FAM162B (G22E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091953	NM_001085480.3(FAM162B):c.58G>A (p.Gly20Ser)	FAM162B (G20S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526536	NM_001085480.3(FAM162B):c.34G>A (p.Gly12Ser)	FAM162B (G12S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604012	NM_001085480.3(FAM162B):c.29G>A (p.Arg10His)	FAM162B (R10H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231358	NM_001085480.3(FAM162B):c.17G>A (p.Gly6Glu)	FAM162B (G6E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242312	GRCh37/hg19 6q21-22.31(chr6:109324789-124836619)x1	AK9, AMD1 +70 more	Copy number loss	not provided	GPathogenic
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 2574685	GRCh37/hg19 6q21-22.31(chr6:112713854-124105184)	ASF1A, CALHM4 +39 more	Copy number loss	6q terminal deletion syndrome	GLikely pathogenic
Select item 2427242	NC_000006.11:g.(?_116441236)_(119252888_?)del	ASF1A, CALHM4 +24 more	Deletion	Congenital disorder of glycosylation, type IAA	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)	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 1409992	NC_000006.11:g.(?_116937787)_(117252669_?)dup	FAM162B, GPRC6A +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 688010	GRCh37/hg19 6q21-22.31(chr6:110981075-119608396)x1	AMD1, ASF1A +45 more	Copy number loss	not provided	GPathogenic
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)	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 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

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Items: 48