FYN[gene] - 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	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 154178	GRCh38/hg38 6q16.3-21(chr6:103279465-113934239)x1	AFG1L, AK9 +297 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 148944	GRCh38/hg38 6q21-22.1(chr6:107370141-115827482)x1	AFG1L, AK9 +224 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 3097636	NM_002037.5(FYN):c.1552A>G (p.Ser518Gly)	FYN (S518G +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 789183	NM_002037.5(FYN):c.1518C>G (p.Asp506Glu)	FYN (D451E +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 98369	NM_002037.5(FYN):c.1347G>A (p.Val449=)	FYN	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 768108	NM_002037.5(FYN):c.1273+8C>T	FYN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2266449	NM_002037.5(FYN):c.1204C>T (p.Leu402Phe)	FYN (L347F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770554	NM_002037.5(FYN):c.1120-10G>A	FYN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 770555	NM_002037.5(FYN):c.1119+8C>A	FYN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2490777	NM_002037.5(FYN):c.1103T>C (p.Val368Ala)	FYN (V365A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 98370	NM_002037.5(FYN):c.984G>A (p.Gln328=)	FYN	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 714319	NM_002037.5(FYN):c.969C>T (p.His323=)	FYN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 98371	NM_002037.5(FYN):c.944C>G (p.Ala315Gly)	FYN (A315G +2 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 2237569	NM_002037.5(FYN):c.919T>G (p.Ser307Ala)	FYN (S307A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 98372	NM_002037.5(FYN):c.862+530G>A	FYN (R265H)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 2551619	NM_002037.5(FYN):c.814C>G (p.Gln272Glu)	FYN (Q272E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526033	NM_002037.5(FYN):c.699G>C (p.Glu233Asp)	FYN (E233D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 98373	NM_002037.5(FYN):c.573T>C (p.Asp191=)	FYN	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 2391422	NM_002037.5(FYN):c.367C>T (p.Arg123Cys)	FYN (R123C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 98374	NM_002037.5(FYN):c.333A>G (p.Ile111Met)	FYN (I111M)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 2337030	NM_002037.5(FYN):c.274G>A (p.Asp92Asn)	FYN (D92N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 929752	NM_002037.5(FYN):c.206C>G (p.Ser69Cys)	FYN (S69C)	Single nucleotide variant (missense variant)	Premature ovarian failure	GUncertain significance
Select item 2206524	NM_002037.5(FYN):c.187G>A (p.Val63Ile)	FYN (V63I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097637	NM_002037.5(FYN):c.184A>G (p.Thr62Ala)	FYN (T62A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213816	NM_002037.5(FYN):c.163G>A (p.Ala55Thr)	FYN (A55T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709055	NM_002037.5(FYN):c.126C>T (p.Phe42=)	FYN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2288159	NM_002037.5(FYN):c.24T>A (p.Asp8Glu)	FYN (D8E)	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 1527277	GRCh37/hg19 6q21-22.1(chr6:110472732-114762836)	AMD1, CCN6 +21 more	Copy number loss	not specified	GUncertain significance
Select item 1527276	GRCh37/hg19 6q21(chr6:109564793-112223595)	AK9, AMD1 +21 more	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 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	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 816620	GRCh37/hg19 6q21(chr6:109564694-112232351)x1	GPR6, METTL24 +21 more	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 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 394869	GRCh37/hg19 6q21(chr6:111876945-112035699)x3	FYN, TRAF3IP2 +1 more	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

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Items: 48