28228[HGNC] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LINC01708, LINC01709 +549 more	Copy number gain	See cases	GPathogenic
Select item 146007	GRCh38/hg38 1p21.3-13.3(chr1:97272349-108893138)x1	AGL, AKNAD1 +195 more	Copy number loss	See cases	GPathogenic
Select item 60005	GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1	AGL, AHCYL1 +333 more	Copy number loss	See cases	GPathogenic
Select item 3183016	NM_019083.3(TRMT13):c.1288C>A (p.Leu430Ile)	LRRC39, TRMT13 (L430I +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2393090	NM_019083.3(TRMT13):c.1288C>T (p.Leu430Phe)	LRRC39, TRMT13 (L392F +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3329079	NM_019083.3(TRMT13):c.1334A>G (p.Gln445Arg)	LRRC39, TRMT13 (Q407R +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2274786	NM_019083.3(TRMT13):c.1346G>T (p.Ser449Ile)	LRRC39, TRMT13 (S411I +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2385602	NM_019083.3(TRMT13):c.1411C>T (p.Pro471Ser)	LRRC39, TRMT13 (P457S +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3291621	NM_144620.4(LRRC39):c.976A>G (p.Thr326Ala)	LRRC39, TRMT13 (T326A)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3291626	NM_144620.4(LRRC39):c.947G>T (p.Arg316Ile)	LRRC39 (R316I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367519	NM_144620.4(LRRC39):c.941G>A (p.Arg314Gln)	LRRC39 (R314Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2375501	NM_144620.4(LRRC39):c.892C>T (p.Arg298Trp)	LRRC39 (R298W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291623	NM_144620.4(LRRC39):c.879T>A (p.Asp293Glu)	LRRC39 (D293E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233074	NM_144620.4(LRRC39):c.839T>C (p.Leu280Pro)	LRRC39 (L280P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120674	NM_144620.4(LRRC39):c.789C>G (p.Cys263Trp)	LRRC39 (C263W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259038	NM_144620.4(LRRC39):c.782C>A (p.Pro261Gln)	LRRC39 (P261Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258944	NM_144620.4(LRRC39):c.706T>A (p.Cys236Ser)	LRRC39 (C236S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120673	NM_144620.4(LRRC39):c.695A>G (p.Asn232Ser)	LRRC39 (N232S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227228	NM_144620.4(LRRC39):c.677C>T (p.Thr226Met)	LRRC39 (T226M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120672	NM_144620.4(LRRC39):c.625A>C (p.Asn209His)	LRRC39 (N209H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227227	NM_144620.4(LRRC39):c.602T>C (p.Leu201Pro)	LRRC39 (L201P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120671	NM_144620.4(LRRC39):c.553A>G (p.Met185Val)	LRRC39 (M185V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553255	NM_144620.4(LRRC39):c.512A>C (p.Glu171Ala)	LRRC39 (E171A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120670	NM_144620.4(LRRC39):c.510A>T (p.Gln170His)	LRRC39 (Q170H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454575	NM_144620.4(LRRC39):c.494T>C (p.Ile165Thr)	LRRC39 (I165T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120669	NM_144620.4(LRRC39):c.419A>C (p.Lys140Thr)	LRRC39 (K140T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291622	NM_144620.4(LRRC39):c.367C>A (p.Pro123Thr)	LRRC39 (P123T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229279	NM_144620.4(LRRC39):c.348C>G (p.Asn116Lys)	LRRC39 (N116K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120668	NM_144620.4(LRRC39):c.326T>C (p.Ile109Thr)	LRRC39 (I109T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776338	NM_144620.4(LRRC39):c.244C>T (p.Leu82=)	LRRC39	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3120666	NM_144620.4(LRRC39):c.230C>T (p.Ser77Phe)	LRRC39 (S77F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120665	NM_144620.4(LRRC39):c.200T>C (p.Ile67Thr)	LRRC39 (I67T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611114	NM_144620.4(LRRC39):c.187G>A (p.Val63Ile)	LRRC39 (V63I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291625	NM_144620.4(LRRC39):c.29C>T (p.Ala10Val)	LRRC39 (A10V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400395	NM_144620.4(LRRC39):c.22A>C (p.Thr8Pro)	LRRC39 (T8P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685521	GRCh37/hg19 1p21.2-21.1(chr1:100146136-106580074)x1	AGL, AMY1A +23 more	Copy number loss	not provided	GUncertain significance
Select item 2424320	NC_000001.10:g.(?_100316599)_(101709564_?)dup	AGL, CDC14A +13 more	Duplication	Maple syrup urine disease	GUncertain significance
Select item 1527171	GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931)	ADORA3, AGL +124 more	Copy number loss	not specified	GPathogenic
Select item 1341033	GRCh37/hg19 1p21.2-21.1(chr1:100215607-105368230)x1	AGL, AMY1A +22 more	Copy number loss	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 443336	GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3	ABCA4, ABCD3 +177 more	Copy number gain	See cases	GPathogenic
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

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Items: 43