ClinVar for Gene (Select 64978) - ClinVar

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Links from Gene

Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3296021	NM_032478.4(MRPL38):c.20G>A (p.Arg7Gln)	LOC130061697, MRPL38 (R7Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296020	NM_032478.4(MRPL38):c.26C>T (p.Ala9Val)	LOC130061697, MRPL38 (A9V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296019	NM_032478.4(MRPL38):c.617A>G (p.Tyr206Cys)	MRPL38 (Y206C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243041	NC_000017.10:g.(?_73720784)_(73975154_?)dup	UNC13D, TRIM65 +9 more	Duplication	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 3207725	NM_032478.4(MRPL38):c.994C>A (p.His332Asn)	MRPL38 (H332N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207720	NM_032478.4(MRPL38):c.817T>C (p.Phe273Leu)	MRPL38 (F273L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207710	NM_032478.4(MRPL38):c.763C>T (p.Leu255Phe)	MRPL38 (L255F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207704	NM_032478.4(MRPL38):c.589G>A (p.Glu197Lys)	MRPL38 (E197K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207701	NM_032478.4(MRPL38):c.442A>C (p.Lys148Gln)	MRPL38 (K148Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207683	NM_032478.4(MRPL38):c.296G>A (p.Arg99Gln)	MRPL38 (R99Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207680	NM_032478.4(MRPL38):c.263T>C (p.Ile88Thr)	MRPL38 (I88T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207678	NM_032478.4(MRPL38):c.172C>T (p.Arg58Trp)	MRPL38 (R58W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207668	NM_032478.4(MRPL38):c.1084C>T (p.Pro362Ser)	MRPL38 (P362S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207661	NM_032478.4(MRPL38):c.1079G>A (p.Arg360Gln)	MRPL38 (R360Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207655	NM_032478.4(MRPL38):c.1051C>T (p.His351Tyr)	MRPL38 (H351Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684856	GRCh37/hg19 17q25.1(chr17:73264158-74039659)x3	ACOX1, CASKIN2 +24 more	Copy number gain	not provided	GUncertain significance
Select item 2648284	NM_032478.4(MRPL38):c.588C>T (p.Thr196=)	MRPL38	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2597157	NM_032478.4(MRPL38):c.15G>T (p.Trp5Cys)	LOC130061697, MRPL38 (W5C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592293	NM_032478.4(MRPL38):c.1067G>A (p.Arg356His)	MRPL38 (R356H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2578017	GRCh37/hg19 17q25.1(chr17:72718277-74142256)	ACOX1, ARMC7 +52 more	Copy number gain	7q11.23 microduplication syndrome	GPathogenic
Select item 2559446	NM_032478.4(MRPL38):c.725G>A (p.Gly242Asp)	MRPL38 (G242D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556545	NM_032478.4(MRPL38):c.334G>A (p.Glu112Lys)	MRPL38 (E112K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495952	NM_032478.4(MRPL38):c.1103G>A (p.Arg368Gln)	MRPL38 (R368Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454491	NM_032478.4(MRPL38):c.782G>A (p.Arg261Gln)	MRPL38 (R261Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397342	NM_032478.4(MRPL38):c.1036C>T (p.Arg346Trp)	MRPL38 (R346W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396859	NM_032478.4(MRPL38):c.101C>G (p.Pro34Arg)	LOC130061695, MRPL38 (P34R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395806	NM_032478.4(MRPL38):c.1102C>T (p.Arg368Trp)	MRPL38 (R368W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387794	NM_032478.4(MRPL38):c.923A>C (p.Gln308Pro)	MRPL38 (Q308P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384361	NM_032478.4(MRPL38):c.770C>T (p.Pro257Leu)	MRPL38 (P257L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366517	NM_032478.4(MRPL38):c.853G>A (p.Ala285Thr)	MRPL38 (A285T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2363314	NM_032478.4(MRPL38):c.1037G>A (p.Arg346Gln)	MRPL38 (R346Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338980	NM_032478.4(MRPL38):c.101C>T (p.Pro34Leu)	LOC130061695, MRPL38 (P34L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326383	NM_032478.4(MRPL38):c.328A>G (p.Ile110Val)	MRPL38 (I110V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265134	NM_032478.4(MRPL38):c.1012C>T (p.Arg338Trp)	MRPL38 (R338W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242078	NM_032478.4(MRPL38):c.406C>T (p.Arg136Trp)	MRPL38 (R136W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1701331	GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3	EVPL, EXOC7 +146 more	Copy number gain	not provided	GPathogenic
Select item 815953	GRCh37/hg19 17q25.1-25.3(chr17:73261871-78608763)x3	AANAT, ACOX1 +84 more	Copy number gain	not provided	GPathogenic
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 687680	GRCh37/hg19 17q25.1(chr17:73596063-73959466)x3	ACOX1, FBF1 +13 more	Copy number gain	not provided	GUncertain significance
Select item 624519	GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3	LLGL2, MAP2K6 +119 more	Copy number gain	not provided	GLikely pathogenic
Select item 564473	GRCh37/hg19 17q25.1(chr17:73414856-74037715)x3	CASKIN2, CDK3 +21 more	Copy number gain	not provided	GUncertain significance
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 443488	GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	AANAT, AATK +202 more	Copy number gain	See cases	GPathogenic
Select item 443158	GRCh37/hg19 17q25.1(chr17:73757329-73992584)x3	ACOX1, FBF1 +9 more	Copy number gain	See cases	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 395477	GRCh37/hg19 17q25.1(chr17:73886097-73914116)x1	FBF1, MRPL38 +1 more	Copy number loss	See cases	GUncertain significance
Select item 253996	GRCh37/hg19 17q25.1(chr17:73870412-74160099)x3	SRP68, TRIM65 +12 more	Copy number gain	See cases	GUncertain significance
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 59610	GRCh38/hg38 17q25.1(chr17:75636351-75970744)x1	ACOX1, FBF1 +49 more	Copy number loss	See cases	GPathogenic
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 52