PRR29[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 2276636	NM_001164257.2(PRR29):c.14C>A (p.Ala5Glu)	PRR29, PRR29-AS1 (A5E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3219457	NM_001164257.2(PRR29):c.58A>G (p.Thr20Ala)	PRR29, PRR29-AS1 (T20A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2553444	NM_001164257.2(PRR29):c.59C>T (p.Thr20Met)	PRR29, PRR29-AS1 (T20M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3219459	NM_001164257.2(PRR29):c.71C>T (p.Thr24Ile)	PRR29, PRR29-AS1 (T24I)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2268026	NM_001164257.2(PRR29):c.121G>A (p.Gly41Ser)	PRR29, PRR29-AS1 (G34S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2511510	NM_001164257.2(PRR29):c.200T>G (p.Val67Gly)	PRR29, PRR29-AS1 (V67G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2299190	NM_001164257.2(PRR29):c.206G>C (p.Gly69Ala)	PRR29, PRR29-AS1 (G62A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2358806	NM_001164257.2(PRR29):c.217C>G (p.Pro73Ala)	PRR29, PRR29-AS1 (P66A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2412088	NM_001164257.2(PRR29):c.227C>A (p.Ala76Asp)	PRR29, PRR29-AS1 (A69D +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2518022	NM_001164257.2(PRR29):c.230C>T (p.Ser77Leu)	PRR29, PRR29-AS1 (S77L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3310480	NM_001164257.2(PRR29):c.238C>T (p.Pro80Ser)	PRR29, PRR29-AS1 (P73S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3219454	NM_001164257.2(PRR29):c.268G>A (p.Glu90Lys)	PRR29 (E83K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299039	NM_001164257.2(PRR29):c.291G>C (p.Glu97Asp)	PRR29 (E90D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301507	NM_001164257.2(PRR29):c.356C>A (p.Ser119Tyr)	PRR29 (S112Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208487	NM_001164257.2(PRR29):c.545A>G (p.Tyr182Cys)	PRR29 (Y175C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219455	NM_001164257.2(PRR29):c.555C>T (p.Ala185=)	PRR29 (P161L)	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 3219456	NM_001164257.2(PRR29):c.567A>G (p.Leu189=)	PRR29 (Y165C)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 2343882	NM_001164257.2(PRR29):c.*2G>A	PRR29 (D167N)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2613334	NM_001164257.2(PRR29):c.*3A>G	PRR29 (D167G)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2316706	NM_001164257.2(PRR29):c.*26C>T	PRR29 (H175Y)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2353697	NM_001164257.2(PRR29):c.*53C>G	PRR29 (P184A)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2307686	NM_001164257.2(PRR29):c.*72C>A	PRR29 (P190H)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2235077	NM_001164257.2(PRR29):c.*86C>G	PRR29 (P195A)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3219458	NM_001164257.2(PRR29):c.*171C>T	PRR29 (T223M)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2320646	NM_001164257.2(PRR29):c.*191G>C	PRR29 (G230R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2214426	NM_001099789.2(ICAM2):c.788G>A (p.Arg263Gln)	ICAM2, PRR29 (R263Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3107895	NM_001099789.2(ICAM2):c.784G>A (p.Val262Met)	ICAM2, PRR29 (V262M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592622	NM_001099789.2(ICAM2):c.758G>A (p.Arg253His)	ICAM2, PRR29 (R253H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2454334	NM_001099789.2(ICAM2):c.714C>G (p.Phe238Leu)	PRR29, ICAM2 (F238L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3285173	NM_001099789.2(ICAM2):c.707C>T (p.Ser236Phe)	ICAM2, PRR29 (S236F)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2620709	NM_001099789.2(ICAM2):c.692T>C (p.Val231Ala)	ICAM2, PRR29 (V231A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3285174	NM_001099789.2(ICAM2):c.635T>C (p.Met212Thr)	ICAM2, PRR29 (M212T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107893	NM_001099789.2(ICAM2):c.598G>A (p.Gly200Ser)	ICAM2, PRR29 (G200S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3285170	NM_001099789.2(ICAM2):c.542G>A (p.Arg181Lys)	ICAM2, PRR29 (R181K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3285172	NM_001099789.2(ICAM2):c.539A>G (p.Asp180Gly)	ICAM2, PRR29 (D180G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514972	NM_001099789.2(ICAM2):c.484G>A (p.Gly162Arg)	ICAM2, PRR29 (G162R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281394	NM_001099789.2(ICAM2):c.431G>A (p.Ser144Asn)	ICAM2, PRR29 (S144N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296208	NM_001099789.2(ICAM2):c.421C>G (p.Pro141Ala)	ICAM2, PRR29 (P141A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341127	NM_001099789.2(ICAM2):c.395T>C (p.Ile132Thr)	ICAM2, PRR29 (I132T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3285175	NM_001099789.2(ICAM2):c.346A>G (p.Ile116Val)	ICAM2, PRR29 (I116V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148898	GRCh37/hg19 17q23.2-23.3(chr17:58596397-62540700)x3	ACE, APPBP2 +43 more	Copy number gain	See cases	GUncertain significance
Select item 1808405	GRCh37/hg19 17q23.3(chr17:61838634-62465444)x4	CCDC47, CD79B +16 more	Copy number gain	not provided	GUncertain significance
Select item 685257	GRCh37/hg19 17q23.1-24.2(chr17:57869604-67078443)x3	ABCA6, ABCA8 +79 more	Copy number gain	not provided	GPathogenic
Select item 625756	GRCh37/hg19 17q22-24.2(chr17:57357088-66306668)	ACE, AMZ2 +77 more	Copy number gain	not provided	GPathogenic
Select item 477396	NC_000017.10:g.(?_62018111)_(62987152_?)dup	SCN4A, SMURF2 +10 more	Duplication	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 253549	GRCh37/hg19 17q22-23.3(chr17:56321134-62080001)x3	TANC2, DDX42 +66 more	Copy number gain	See cases	GPathogenic
Select item 58702	GRCh37/hg19 17q23-24(chr17:59209629-64222315)x3	ACE, APOH +48 more	Copy number gain	See cases	GPathogenic

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Items: 52