389421[Gene ID] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996786, LOC129996787 +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 145430	GRCh38/hg38 6q16.3-21(chr6:102356502-111049879)x1	AFG1L, AK9 +208 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 91920	NM_001004317.4(LIN28B):c.5C>A (p.Ala2Asp)	LIN28B (A2D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2523129	NM_001004317.4(LIN28B):c.257C>T (p.Thr86Ile)	LIN28B (T94I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 736009	NM_001004317.4(LIN28B):c.342C>T (p.Pro114=)	LIN28B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2272816	NM_001004317.4(LIN28B):c.484G>A (p.Ala162Thr)	LIN28B (A162T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310002	NM_001004317.4(LIN28B):c.521C>T (p.Ala174Val)	LIN28B (A182V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2623467	NM_001004317.4(LIN28B):c.586G>A (p.Gly196Arg)	LIN28B (G196R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118921	NM_001004317.4(LIN28B):c.614C>T (p.Pro205Leu)	LIN28B (P213L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379867	NM_001004317.4(LIN28B):c.649C>T (p.Arg217Trp)	LIN28B (R217W +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2685211	GRCh37/hg19 6q15-21(chr6:92468126-109410569)x1	AFG1L, ARMC2 +43 more	Copy number loss	not provided	GPathogenic
Select item 2684451	GRCh37/hg19 6q16.3(chr6:105231564-105479219)x3	HACE1, LIN28B	Copy number gain	not provided	GUncertain significance
Select item 1807838	GRCh37/hg19 6q16.1-21(chr6:96596732-105554568)x1	ASCC3, BVES +21 more	Copy number loss	not provided	GPathogenic
Select item 1807814	GRCh37/hg19 6q16.1-21(chr6:96946110-106497526)x1	ASCC3, BVES +22 more	Copy number loss	not provided	GPathogenic
Select item 1527271	GRCh37/hg19 6q16.3-21(chr6:105406897-105573285)	BVES, LIN28B	Copy number loss	not specified	GUncertain significance
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 981211	GRCh37/hg19 6q16.1-21(chr6:98949950-114533905)x1	AFG1L, AK9 +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 688359	GRCh37/hg19 6q16.3(chr6:105268161-105427647)x3	HACE1, LIN28B	Copy number gain	not provided	GUncertain significance
Select item 685562	GRCh37/hg19 6q16.3(chr6:105277427-105427647)x3	HACE1, LIN28B	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)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443296	GRCh37/hg19 6q16.1-21(chr6:94202605-109878834)x1	AFG1L, AK9 +49 more	Copy number loss	See cases	GPathogenic
Select item 442063	GRCh37/hg19 6q16.1-21(chr6:97384446-110247755)x1	AFG1L, AK9 +44 more	Copy number loss	See cases	GPathogenic

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Items: 29