21373[HGNC] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 149964	GRCh38/hg38 1p34.3(chr1:35934217-36821999)x4	ADPRS, AGO3 +50 more	Copy number gain	See cases	GLikely pathogenic
Select item 2231791	NM_001282547.2(STK40):c.1235G>A (p.Arg412Gln)	STK40 (R412Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171426	NM_001282547.2(STK40):c.1220C>A (p.Ala407Glu)	STK40 (A407E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532022	NM_001282547.2(STK40):c.1213G>A (p.Gly405Ser)	STK40 (G410S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331746	NM_001282547.2(STK40):c.1198C>A (p.Pro400Thr)	STK40 (P405T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171425	NM_001282547.2(STK40):c.1156G>C (p.Ala386Pro)	STK40 (A386P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783933	NM_001282547.2(STK40):c.1101G>A (p.Thr367=)	STK40	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3323348	NM_001282547.2(STK40):c.1091C>T (p.Ala364Val)	STK40 (A369V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323349	NM_001282547.2(STK40):c.1052T>C (p.Ile351Thr)	STK40 (I351T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171434	NM_001282547.2(STK40):c.964G>A (p.Ala322Thr)	STK40 (A322T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3171433	NM_001282547.2(STK40):c.952C>T (p.Arg318Cys)	STK40 (R318C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783934	NM_001282547.2(STK40):c.879T>C (p.Ile293=)	STK40	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2400614	NM_001282547.2(STK40):c.868G>A (p.Glu290Lys)	STK40 (E290K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171432	NM_001282547.2(STK40):c.743G>A (p.Arg248Gln)	STK40 (R253Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298146	NM_001282547.2(STK40):c.617A>G (p.Asn206Ser)	STK40 (N211S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279078	NM_001282547.2(STK40):c.460G>A (p.Ala154Thr)	STK40 (A154T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638671	NM_001282547.2(STK40):c.438T>C (p.Ala146=)	STK40	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3323350	NM_001282547.2(STK40):c.413G>T (p.Cys138Phe)	STK40 (C143F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470189	NM_001282547.2(STK40):c.347G>A (p.Arg116His)	STK40 (R116H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270914	NM_001282547.2(STK40):c.339C>A (p.Phe113Leu)	STK40 (F118L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606795	NM_001282547.2(STK40):c.331G>A (p.Gly111Ser)	STK40 (G111S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382512	NM_001282547.2(STK40):c.305C>T (p.Thr102Met)	STK40 (T102M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171429	NM_001282547.2(STK40):c.251G>A (p.Arg84Gln)	STK40 (R84Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316544	NM_001282547.2(STK40):c.240C>G (p.Ser80Arg)	STK40 (S85R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171428	NM_001282547.2(STK40):c.188A>G (p.Tyr63Cys)	STK40 (Y63C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254552	NM_001282547.2(STK40):c.167A>G (p.Lys56Arg)	STK40 (K56R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171427	NM_001282547.2(STK40):c.166A>C (p.Lys56Gln)	STK40 (K56Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557980	NM_001282547.2(STK40):c.161C>T (p.Ala54Val)	STK40 (A59V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396741	NM_001282547.2(STK40):c.41C>T (p.Ser14Leu)	STK40 (S14L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171430	NM_001282547.2(STK40):c.26G>A (p.Gly9Glu)	STK40 (G9E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808707	GRCh37/hg19 1p34.3(chr1:35104233-37357913)x1	ADPRS, AGO1 +32 more	Copy number loss	not provided	GPathogenic
Select item 1526904	GRCh37/hg19 1p34.3(chr1:36041366-39112237)	ADPRS, AGO1 +37 more	Copy number loss	not specified	GUncertain significance
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 687265	GRCh37/hg19 1p34.3(chr1:36496921-36829945)x3	ADPRS, AGO3 +8 more	Copy number gain	not provided	GUncertain significance
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 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	KCNQ4, KDM4A +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	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 395434	GRCh37/hg19 1p34.3(chr1:34830287-36945093)x1	ADPRS, AGO1 +31 more	Copy number loss	See cases	GPathogenic

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Items: 41