YIF1A[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154814	GRCh38/hg38 11q13.1-13.2(chr11:65741431-67705669)x1	GAL3ST3, GPR152 +282 more	Copy number loss	See cases	GPathogenic
Select item 644273	NC_000011.9:g.(?_65633902)_(66115026_?)dup	B4GAT1, BRMS1 +72 more	Duplication	Cutis laxa, autosomal recessive, type 1B	GUncertain significance
Select item 59757	GRCh38/hg38 11q13.2(chr11:66193502-67890770)x3	ACTN3, ACY3 +212 more	Copy number gain	See cases	GPathogenic
Select item 3191485	NM_020470.3(YIF1A):c.878G>A (p.Arg293Gln)	YIF1A (R241Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191484	NM_020470.3(YIF1A):c.793C>T (p.Arg265Trp)	YIF1A (R213W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273035	NM_020470.3(YIF1A):c.791C>T (p.Pro264Leu)	YIF1A (P212L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407780	NM_020470.3(YIF1A):c.787G>A (p.Val263Ile)	YIF1A (V211I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191483	NM_020470.3(YIF1A):c.769G>A (p.Asp257Asn)	YIF1A (D205N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249289	NM_020470.3(YIF1A):c.746T>G (p.Leu249Trp)	YIF1A (L197W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478979	NM_020470.3(YIF1A):c.740G>A (p.Arg247His)	YIF1A (R195H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333656	NM_020470.3(YIF1A):c.692A>G (p.Tyr231Cys)	YIF1A (Y179C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333659	NM_020470.3(YIF1A):c.682G>A (p.Asp228Asn)	YIF1A (D176N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333658	NM_020470.3(YIF1A):c.655G>A (p.Val219Met)	YIF1A (V167M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191482	NM_020470.3(YIF1A):c.637G>A (p.Val213Met)	YIF1A (V213M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3333660	NM_020470.3(YIF1A):c.632A>T (p.Lys211Ile)	YIF1A (K211I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223344	NM_020470.3(YIF1A):c.632A>G (p.Lys211Arg)	YIF1A (K211R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3333657	NM_020470.3(YIF1A):c.586C>T (p.Arg196Cys)	YIF1A (R196C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206213	NM_020470.3(YIF1A):c.494C>T (p.Pro165Leu)	YIF1A (P165L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3333662	NM_020470.3(YIF1A):c.447C>T (p.Tyr149=)	YIF1A	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3191480	NM_020470.3(YIF1A):c.428C>T (p.Thr143Met)	YIF1A (T143M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333654	NM_020470.3(YIF1A):c.419A>G (p.Tyr140Cys)	YIF1A (Y140C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191479	NM_020470.3(YIF1A):c.401T>C (p.Leu134Pro)	YIF1A (L134P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191478	NM_020470.3(YIF1A):c.392G>C (p.Arg131Pro)	YIF1A (R131P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588806	NM_020470.3(YIF1A):c.392G>A (p.Arg131Gln)	YIF1A (R131Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278908	NM_020470.3(YIF1A):c.358G>A (p.Val120Met)	YIF1A (V120M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355630	NM_020470.3(YIF1A):c.347A>T (p.Gln116Leu)	YIF1A (Q116L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191475	NM_020470.3(YIF1A):c.304G>A (p.Val102Met)	YIF1A (V102M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191474	NM_020470.3(YIF1A):c.280T>A (p.Phe94Ile)	YIF1A (F94I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191473	NM_020470.3(YIF1A):c.250C>T (p.Arg84Cys)	YIF1A (R84C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263414	NM_020470.3(YIF1A):c.229A>G (p.Met77Val)	YIF1A (M77V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334349	NM_020470.3(YIF1A):c.199G>A (p.Gly67Ser)	YIF1A (G67S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333661	NM_020470.3(YIF1A):c.187G>A (p.Ala63Thr)	YIF1A (A63T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191471	NM_020470.3(YIF1A):c.149G>T (p.Ser50Ile)	YIF1A (S50I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477558	NM_020470.3(YIF1A):c.110C>A (p.Pro37His)	YIF1A (P37H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400148	NM_020470.3(YIF1A):c.103A>G (p.Ser35Gly)	YIF1A (S35G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191481	NM_020470.3(YIF1A):c.47C>T (p.Ala16Val)	YIF1A (A16V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191476	NM_020470.3(YIF1A):c.30C>G (p.His10Gln)	LOC112081411, YIF1A (H10Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191472	NM_020470.3(YIF1A):c.19T>C (p.Tyr7His)	LOC112081411, YIF1A (Y7H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2424770	NC_000011.9:g.(?_64973914)_(70052579_?)dup	ACTN3, ACY3 +124 more	Duplication	Aicardi-Goutieres syndrome 3 +1 more	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527644	GRCh37/hg19 11q13.1-13.2(chr11:64935724-66405514)	ACTN3, AP5B1 +63 more	Copy number loss	not specified	GUncertain significance
Select item 1449359	NC_000011.9:g.(?_64522783)_(66283694_?)del	AP5B1, ARL2 +81 more	Deletion	Bardet-Biedl syndrome +1 more	GPathogenic
Select item 1340579	GRCh37/hg19 11q13.2(chr11:65963737-66581485)x1	ACTN3, B4GAT1 +25 more	Copy number loss	not provided	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 625593	GRCh37/hg19 11q13.1-13.2(chr11:65138976-67574402)	ACTN3, ACY3 +94 more	Copy number gain	not provided	GPathogenic
Select item 563824	GRCh37/hg19 11q13.2(chr11:65906060-66086140)x1	YIF1A, CD248 +5 more	Copy number loss	not provided	GUncertain significance
Select item 443398	GRCh37/hg19 11q13.1-13.2(chr11:64501919-67129258)x3	ACTN3, ANKRD13D +104 more	Copy number gain	See cases	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 253811	GRCh37/hg19 11q13.2(chr11:66024774-67430781)x3	ACTN3, ACY3 +57 more	Copy number gain	See cases	GUncertain significance

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Items: 52