20995[HGNC] - ClinVar

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Items: 38

	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 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 151218	GRCh38/hg38 6q22.1-22.31(chr6:116815199-119718887)x1	ASF1A, CEP85L +68 more	Copy number loss	See cases	GLikely pathogenic
Select item 148658	GRCh38/hg38 6q22.1-22.32(chr6:117607147-126699980)x3	LOC129997072, LOC129997073 +147 more	Copy number gain	See cases	GPathogenic
Select item 59530	GRCh38/hg38 6q22.31(chr6:118509086-119604498)x3	ASF1A, CEP85L +32 more	Copy number gain	See cases	GUncertain significance
Select item 2285206	NM_014034.3(ASF1A):c.47C>G (p.Ser16Cys)	ASF1A, MCM9 (S16C)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2489942	NM_014034.3(ASF1A):c.87G>T (p.Glu29Asp)	ASF1A, MCM9 (E29D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2656890	NM_014034.3(ASF1A):c.354T>C (p.Thr118=)	ASF1A, MCM9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2490756	NM_014034.3(ASF1A):c.366A>C (p.Leu122Phe)	ASF1A, MCM9 (L122F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317927	NM_014034.3(ASF1A):c.430C>T (p.Pro144Ser)	ASF1A, MCM9 (P144S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313635	NM_014034.3(ASF1A):c.470C>T (p.Thr157Ile)	ASF1A, MCM9 (T157I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372468	NM_014034.3(ASF1A):c.485A>G (p.Asp162Gly)	ASF1A, MCM9 (D162G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223336	NM_014034.3(ASF1A):c.497G>A (p.Ser166Asn)	ASF1A, MCM9 (S166N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317917	NM_014034.3(ASF1A):c.554G>A (p.Gly185Glu)	ASF1A, MCM9 (G185E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511204	NM_014034.3(ASF1A):c.583G>A (p.Val195Ile)	ASF1A, MCM9 (V195I)	Single nucleotide variant (missense variant +1 more)	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 1527283	GRCh37/hg19 6q22.2-22.31(chr6:118490533-119281981)	ASF1A, CEP85L +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 1527263	GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)	AFG1L, AK9 +138 more	Copy number loss	not specified	GPathogenic
Select item 1341103	GRCh37/hg19 6q22.1-22.31(chr6:117441803-123349672)x3	ASF1A, CEP85L +18 more	Copy number gain	not provided	GLikely pathogenic
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 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 393755	GRCh37/hg19 6q22.31(chr6:119221905-119252815)x3	ASF1A, MCM9	Copy number gain	See cases	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 180227	NC_000006.11:g.(116681080_116735056)_(119687719_119775014)del	ASF1A, CALHM4 +22 more	Deletion	Tremor +3 more	GPathogenic
Select item 180223	NC_000006.11:g.(117810940_117810996)_(119417693_119417749)del	ASF1A, CEP85L +7 more	Deletion	Generalized non-motor (absence) seizure +2 more	GPathogenic

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Items: 38