ClinVar for Gene (Select 5553) - ClinVar

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Links from Gene

Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338459	GRCh37/hg19 11q12.1(chr11:57003258-57596656)x3	APLNR, BTBD18 +20 more	Copy number gain	Pontocerebellar hypoplasia type 10	GLikely pathogenic
Select item 3218611	NM_002728.6(PRG2):c.511C>T (p.Arg171Cys)	PRG2 (R160C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218610	NM_002728.6(PRG2):c.503G>A (p.Arg168His)	PRG2 (R168H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218609	NM_002728.6(PRG2):c.452C>T (p.Ala151Val)	PRG2 (A140V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218608	NM_002728.6(PRG2):c.419A>G (p.Asn140Ser)	PRG2 (N129S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3218607	NM_002728.6(PRG2):c.406A>G (p.Ile136Val)	PRG2 (I125V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218606	NM_002728.6(PRG2):c.322C>T (p.Arg108Cys)	PRG2 (R108C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218605	NM_002728.6(PRG2):c.259C>G (p.Leu87Val)	PRG2 (L87V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218604	NM_002728.6(PRG2):c.187G>A (p.Gly63Arg)	PRG2 (G63R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218602	NM_002728.6(PRG2):c.146C>A (p.Thr49Asn)	PRG2 (T49N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063212	GRCh37/hg19 11q12.1(chr11:57112299-57871866)x3	BTBD18, CLP1 +19 more	Copy number gain	not specified	GUncertain significance
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
Select item 2619261	NM_002728.6(PRG2):c.645A>T (p.Arg215Ser)	PRG2 (R215S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551579	NM_002728.6(PRG2):c.515T>A (p.Phe172Tyr)	PRG2 (F172Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383809	NM_002728.6(PRG2):c.559G>T (p.Ala187Ser)	PRG2 (A187S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383123	NM_002728.6(PRG2):c.487A>T (p.Ile163Phe)	PRG2 (I163F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378763	NM_002728.6(PRG2):c.104T>A (p.Leu35Gln)	PRG2 (L35Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374848	NM_002728.6(PRG2):c.626G>C (p.Arg209Pro)	PRG2 (R209P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340652	NM_002728.6(PRG2):c.323G>A (p.Arg108His)	PRG2 (R108H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282073	NM_002728.6(PRG2):c.148C>A (p.Pro50Thr)	PRG2 (P50T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266823	NM_002728.6(PRG2):c.412A>T (p.Asn138Tyr)	PRG2 (N127Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258856	NM_002728.6(PRG2):c.191G>A (p.Ser64Asn)	PRG2 (S64N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239779	NM_002728.6(PRG2):c.283A>C (p.Thr95Pro)	PRG2 (T95P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222148	NM_002728.6(PRG2):c.118G>A (p.Glu40Lys)	PRG2 (E40K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808253	GRCh37/hg19 11q12.1(chr11:56637024-57361915)x3	APLNR, LRRC55 +12 more	Copy number gain	not provided	GUncertain significance
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACP2, ACCS +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1341252	GRCh37/hg19 11q12.1(chr11:57037091-57453575)x3	CLP1, MIR130A +14 more	Copy number gain	not provided	GUncertain significance
Select item 1339813	GRCh37/hg19 11q12.1(chr11:57112299-57871866)x3	BTBD18, CLP1 +19 more	Copy number gain	not provided	Gnot provided
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 789621	NM_002728.6(PRG2):c.168A>G (p.Glu56=)	PRG2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 684481	Single allele	APLNR, BTBD18 +67 more	Duplication	not provided	Gnot provided
Select item 563881	GRCh37/hg19 11p11.12-q12.1(chr11:49313405-59008426)x3	APLNR, BTBD18 +95 more	Copy number gain	not provided	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 154690	GRCh38/hg38 11q11-12.1(chr11:55319519-58998777)x3	APLNR, BTBD18 +147 more	Copy number gain	See cases	GPathogenic
Select item 152667	GRCh38/hg38 11q11-12.1(chr11:55316535-57539457)x3	APLNR, LINC02735 +86 more	Copy number gain	See cases	GUncertain significance
Select item 58162	GRCh38/hg38 11q12.1(chr11:57372226-57936167)x3	LOC130005708, LOC130005709 +48 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 39