ClinVar for Gene (Select 619208) - ClinVar

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Links from Gene

Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242312	GRCh37/hg19 6q21-22.31(chr6:109324789-124836619)x1	AK9, AMD1 +70 more	Copy number loss	not provided	GPathogenic
Select item 3092366	NM_001033564.3(FAM229B):c.182C>G (p.Thr61Ser)	FAM229B (T61S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092365	NM_001033564.3(FAM229B):c.172G>A (p.Val58Ile)	FAM229B (V58I)	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 3062886	GRCh37/hg19 6q21(chr6:112107860-113572662)x1	CCN6, FAM229B +4 more	Copy number loss	not specified	GUncertain significance
Select item 2552565	NM_001033564.3(FAM229B):c.77G>C (p.Gly26Ala)	FAM229B (G26A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540311	NM_001033564.3(FAM229B):c.233A>G (p.His78Arg)	FAM229B (H78R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539249	NM_001033564.3(FAM229B):c.171T>A (p.Asp57Glu)	FAM229B (D57E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467300	NM_001033564.3(FAM229B):c.197C>T (p.Thr66Met)	FAM229B (T66M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2335953	NM_001033564.3(FAM229B):c.90T>G (p.Ser30Arg)	FAM229B (S30R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309885	NM_001033564.3(FAM229B):c.231G>A (p.Met77Ile)	FAM229B (M77I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527277	GRCh37/hg19 6q21-22.1(chr6:110472732-114762836)	AMD1, CCN6 +21 more	Copy number loss	not specified	GUncertain significance
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 1048615	GRCh37/hg19 6q21(chr6:109796301-113083437)x3	AK9, AMD1 +22 more	Copy number gain	See cases	GUncertain significance
Select item 981211	GRCh37/hg19 6q16.1-21(chr6:98949950-114533905)x1	PREP, QRSL1 +66 more	Copy number loss	Deletion 6q16 q21	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 689111	GRCh37/hg19 6q21(chr6:112421899-112461960)x1	FAM229B, LAMA4	Copy number loss	not provided	GUncertain significance
Select item 688010	GRCh37/hg19 6q21-22.31(chr6:110981075-119608396)x1	AMD1, ASF1A +45 more	Copy number loss	not provided	GPathogenic
Select item 686660	GRCh37/hg19 6q21(chr6:112352198-112457238)x3	CCN6, FAM229B +2 more	Copy number gain	not provided	GUncertain significance
Select item 563221	GRCh37/hg19 6q21(chr6:112249382-113216278)x3	LAMA4, CCN6 +3 more	Copy number gain	not provided	GUncertain significance
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 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 155160	GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1	LOC126859762, LOC126859763 +460 more	Copy number loss	See cases	GPathogenic
Select item 154178	GRCh38/hg38 6q16.3-21(chr6:103279465-113934239)x1	AFG1L, AK9 +297 more	Copy number loss	See cases	GPathogenic
Select item 153380	GRCh38/hg38 6q21(chr6:112010915-112244218)x1	CCN6, FAM229B +10 more	Copy number loss	See cases	GUncertain significance
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	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 148944	GRCh38/hg38 6q21-22.1(chr6:107370141-115827482)x1	AFG1L, AK9 +224 more	Copy number loss	See cases	GPathogenic
Select item 145596	GRCh38/hg38 6q21(chr6:111948842-112906602)x3	CCN6, FAM229B +15 more	Copy number gain	See cases	GUncertain significance
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: 34