14034[HGNC] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	ACADM, ACOT11 +570 more	Copy number gain	See cases	GPathogenic
Select item 153325	GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3	ACOT11, AK4 +422 more	Copy number gain	See cases	GLikely pathogenic
Select item 150647	GRCh38/hg38 1p32.3-31.3(chr1:53627272-64248854)x1	ACOT11, ALG6 +280 more	Copy number loss	See cases	GPathogenic
Select item 59968	GRCh38/hg38 1p32.3-31.3(chr1:53738212-61439648)x1	ACOT11, BSND +205 more	Copy number loss	See cases	GPathogenic
Select item 153752	GRCh38/hg38 1p32.3(chr1:53823735-54328113)x3	CDCP2, CYB5RL +27 more	Copy number gain	See cases	GUncertain significance
Select item 3207607	NM_016491.4(MRPL37):c.64G>A (p.Gly22Ser)	LOC129930579, MRPL37 (G22S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279433	NM_016491.4(MRPL37):c.130C>T (p.Pro44Ser)	LOC129930579, MRPL37 (P44S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610860	NM_016491.4(MRPL37):c.133C>T (p.Pro45Ser)	MRPL37, LOC129930579 (P45S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331997	NM_016491.4(MRPL37):c.152A>T (p.Glu51Val)	LOC129930579, MRPL37 (E51V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296018	NM_016491.4(MRPL37):c.182C>T (p.Ala61Val)	LOC129930579, MRPL37 (A61V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282178	NM_016491.4(MRPL37):c.184G>A (p.Gly62Arg)	LOC129930579, MRPL37 (G62R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296015	NM_016491.4(MRPL37):c.347G>A (p.Gly116Asp)	MRPL37 (G116D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296016	NM_016491.4(MRPL37):c.443A>G (p.Glu148Gly)	MRPL37 (E148G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300205	NM_016491.4(MRPL37):c.463C>G (p.Leu155Val)	MRPL37 (L155V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353220	NM_016491.4(MRPL37):c.623C>T (p.Thr208Met)	MRPL37 (T208M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 59969	GRCh38/hg38 1p32.3(chr1:54207426-54756958)x1	ACOT11, FAM151A +25 more	Copy number loss	See cases	GPathogenic
Select item 3207609	NM_016491.4(MRPL37):c.686G>A (p.Arg229Gln)	MRPL37 (R229Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270238	NM_016491.4(MRPL37):c.691A>C (p.Ser231Arg)	MRPL37 (S231R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558884	NM_016491.4(MRPL37):c.775A>G (p.Ile259Val)	MRPL37 (I259V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296533	NM_016491.4(MRPL37):c.790G>A (p.Asp264Asn)	MRPL37 (D264N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594616	NM_016491.4(MRPL37):c.843A>C (p.Glu281Asp)	MRPL37 (E281D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486984	NM_016491.4(MRPL37):c.853T>C (p.Tyr285His)	MRPL37 (Y285H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227139	NM_016491.4(MRPL37):c.879A>T (p.Leu293Phe)	MRPL37 (L293F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2289150	NM_016491.4(MRPL37):c.886A>G (p.Lys296Glu)	MRPL37 (K296E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229863	NM_016491.4(MRPL37):c.962C>A (p.Ala321Asp)	MRPL37 (A321D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373491	NM_016491.4(MRPL37):c.976C>T (p.Arg326Trp)	MRPL37 (R326W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554577	NM_016491.4(MRPL37):c.985T>C (p.Tyr329His)	MRPL37 (Y329H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344412	NM_016491.4(MRPL37):c.1008G>C (p.Leu336Phe)	MRPL37 (L336F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294810	NM_016491.4(MRPL37):c.1033G>A (p.Val345Met)	MRPL37 (V345M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409144	NM_016491.4(MRPL37):c.1034T>C (p.Val345Ala)	MRPL37 (V345A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265032	NM_016491.4(MRPL37):c.1057C>T (p.His353Tyr)	MRPL37 (H353Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296017	NM_016491.4(MRPL37):c.1258C>T (p.His420Tyr)	MRPL37 (H420Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330291	NM_016491.4(MRPL37):c.1259A>T (p.His420Leu)	MRPL37 (H420L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062755	GRCh37/hg19 1p33-32.2(chr1:47493178-57042671)x3	ACOT11, AGBL4 +72 more	Copy number gain	not specified	GLikely pathogenic
Select item 1047872	GRCh37/hg19 1p32.3-32.2(chr1:51941877-56688514)	CYB5RL, EPS15 +49 more	Copy number loss	Abnormality of the kidney +1 more	GPathogenic
Select item 981205	GRCh37/hg19 1p32.3-31.3(chr1:53675707-66644963)x1	L1TD1, LDLRAD1 +67 more	Copy number loss	Chromosome 1p32-p31 deletion syndrome	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 565098	GRCh37/hg19 1p32.3(chr1:54575439-55381546)x1	MRPL37, TTC22 +10 more	Copy number loss	not provided	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 394094	GRCh37/hg19 1p32.3(chr1:51729573-55164001)x1	LRP8, LRRC42 +42 more	Copy number loss	See cases	GPathogenic

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Items: 42