25791[HGNC] - ClinVar

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Items: 45

	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 146293	GRCh38/hg38 1p22.1(chr1:91626400-92362203)x3	BRDT, BTBD8 +18 more	Copy number gain	See cases	GUncertain significance
Select item 57784	GRCh38/hg38 1p22.1(chr1:91811903-92334237)x3	BRDT, BTBD8 +10 more	Copy number gain	See cases	GUncertain significance
Select item 2210288	NM_024813.3(RPAP2):c.4G>A (p.Ala2Thr)	GLMN, RPAP2 (A2T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351659	NM_024813.3(RPAP2):c.38A>G (p.Lys13Arg)	GLMN, RPAP2 (K13R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551506	NM_024813.3(RPAP2):c.53G>A (p.Arg18His)	GLMN, RPAP2 (R18H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155941	NM_024813.3(RPAP2):c.167G>A (p.Arg56Lys)	GLMN, RPAP2 (R56K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257490	NM_024813.3(RPAP2):c.208A>G (p.Ile70Val)	GLMN, RPAP2 (I70V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308466	NM_024813.3(RPAP2):c.209T>A (p.Ile70Asn)	GLMN, RPAP2 (I70N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490163	NM_024813.3(RPAP2):c.268G>A (p.Val90Ile)	GLMN, RPAP2 (V90I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212611	NM_024813.3(RPAP2):c.281G>A (p.Arg94His)	GLMN, RPAP2 (R94H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296800	NM_024813.3(RPAP2):c.286A>G (p.Ile96Val)	GLMN, RPAP2 (I96V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315131	NM_024813.3(RPAP2):c.307C>G (p.Pro103Ala)	GLMN, RPAP2 (P103A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155944	NM_024813.3(RPAP2):c.431C>T (p.Ser144Phe)	GLMN, RPAP2 (S144F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155945	NM_024813.3(RPAP2):c.640G>A (p.Asp214Asn)	GLMN, RPAP2 (D214N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519760	NM_024813.3(RPAP2):c.739A>G (p.Ile247Val)	GLMN, RPAP2 (I247V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155946	NM_024813.3(RPAP2):c.772T>C (p.Ser258Pro)	GLMN, RPAP2 (S258P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394583	NM_024813.3(RPAP2):c.862T>C (p.Cys288Arg)	GLMN, RPAP2 (C288R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396791	NM_024813.3(RPAP2):c.865G>A (p.Glu289Lys)	GLMN, RPAP2 (E289K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220877	NM_024813.3(RPAP2):c.983G>A (p.Gly328Asp)	GLMN, RPAP2 (G328D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315133	NM_024813.3(RPAP2):c.1068G>C (p.Gln356His)	GLMN, RPAP2 (Q356H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155937	NM_024813.3(RPAP2):c.1162G>A (p.Gly388Ser)	GLMN, RPAP2 (G388S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541741	NM_024813.3(RPAP2):c.1202C>T (p.Ser401Phe)	GLMN, RPAP2 (S401F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298442	NM_024813.3(RPAP2):c.1337T>C (p.Leu446Pro)	GLMN, RPAP2 (L446P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155938	NM_024813.3(RPAP2):c.1362A>C (p.Lys454Asn)	GLMN, RPAP2 (K454N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328908	NM_024813.3(RPAP2):c.1364A>T (p.Glu455Val)	GLMN, RPAP2 (E455V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155939	NM_024813.3(RPAP2):c.1408C>T (p.Arg470Trp)	GLMN, RPAP2 (R470W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155940	NM_024813.3(RPAP2):c.1510C>T (p.Arg504Cys)	GLMN, RPAP2 (R504C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559030	NM_024813.3(RPAP2):c.1511G>C (p.Arg504Pro)	GLMN, RPAP2 (R504P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329362	NM_024813.3(RPAP2):c.1511G>T (p.Arg504Leu)	GLMN, RPAP2 (R504L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508676	NM_024813.3(RPAP2):c.1714A>G (p.Lys572Glu)	RPAP2 (K572E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537035	NM_024813.3(RPAP2):c.1747T>C (p.Phe583Leu)	RPAP2 (F583L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155943	NM_024813.3(RPAP2):c.1754A>T (p.Asp585Val)	RPAP2 (D585V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381339	NM_024813.3(RPAP2):c.1798A>G (p.Ser600Gly)	RPAP2 (S600G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247790	NC_000001.10:g.(?_92457801)_(92949044_?)dup	BRDT, BTBD8 +5 more	Duplication	Neutropenia, severe congenital, 2, autosomal dominant	GUncertain significance
Select item 3247718	NC_000001.10:g.(?_91726847)_(93307422_?)dup	BRDT, BTBD8 +12 more	Duplication	Diamond-Blackfan anemia	GUncertain significance
Select item 1527159	GRCh37/hg19 1p22.1(chr1:92626657-93345442)	C1orf146, DIPK1A +6 more	Copy number loss	not specified	GPathogenic
Select item 981207	GRCh37/hg19 1p22.1(chr1:92405898-94018197)x1	BRDT, BTBD8 +15 more	Copy number loss	Diamond-Blackfan anemia 6	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 565125	GRCh37/hg19 1p22.1(chr1:92064829-92836061)x3	BTBD8, GLMN +6 more	Copy number gain	not provided	GUncertain significance
Select item 565124	GRCh37/hg19 1p22.2-22.1(chr1:91668330-93539185)x3	TGFBR3, GLMN +13 more	Copy number gain	not provided	GUncertain significance
Select item 442763	GRCh37/hg19 1p22.1(chr1:92751767-92958556)x3	GFI1, GLMN +1 more	Copy number gain	See cases	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 395351	GRCh37/hg19 1p22.1(chr1:92752706-92772798)x3	GLMN, RPAP2	Copy number gain	See cases	GUncertain significance

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Items: 45