ClinVar for Gene (Select 55825) - ClinVar

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Links from Gene

Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3305737	NM_018441.6(PECR):c.235T>C (p.Cys79Arg)	PECR (C79R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211320	NM_018441.6(PECR):c.688G>A (p.Ala230Thr)	PECR (A230T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211318	NM_018441.6(PECR):c.67G>C (p.Val23Leu)	PECR (V23L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211317	NM_018441.6(PECR):c.674T>G (p.Phe225Cys)	PECR (F225C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211316	NM_018441.6(PECR):c.463G>A (p.Val155Ile)	PECR (V155I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211315	NM_018441.6(PECR):c.305A>G (p.Asn102Ser)	PECR (N102S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211314	NM_018441.6(PECR):c.20G>T (p.Gly7Val)	PECR (G7V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211313	NM_018441.6(PECR):c.130A>G (p.Asn44Asp)	PECR (N44D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211312	NM_018441.6(PECR):c.113T>C (p.Leu38Pro)	PECR (L38P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 2597107	NM_018441.6(PECR):c.806C>T (p.Thr269Ile)	PECR (T269I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 2535894	NM_018441.6(PECR):c.111G>C (p.Glu37Asp)	PECR (E37D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533297	NM_018441.6(PECR):c.376G>A (p.Ala126Thr)	PECR (A126T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529434	NM_018441.6(PECR):c.203C>A (p.Pro68His)	PECR (P68H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468996	NM_018441.6(PECR):c.677A>G (p.Gln226Arg)	PECR (Q226R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455315	NM_018441.6(PECR):c.583C>T (p.Arg195Trp)	PECR (R195W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401147	NM_018441.6(PECR):c.823C>T (p.Pro275Ser)	PECR (P275S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374563	NM_018441.6(PECR):c.562G>C (p.Glu188Gln)	PECR (E188Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354804	NM_018441.6(PECR):c.398C>T (p.Thr133Met)	PECR (T133M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354651	NM_018441.6(PECR):c.539A>G (p.Asn180Ser)	PECR (N180S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325925	NM_018441.6(PECR):c.427T>G (p.Tyr143Asp)	PECR (Y143D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302330	NM_018441.6(PECR):c.203C>T (p.Pro68Leu)	PECR (P68L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277397	NM_018441.6(PECR):c.264T>A (p.Asn88Lys)	PECR (N88K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272683	NM_018441.6(PECR):c.368G>A (p.Gly123Glu)	PECR (G123E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224181	NM_018441.6(PECR):c.173C>T (p.Ala58Val)	PECR (A58V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222533	NM_018441.6(PECR):c.599C>A (p.Ala200Asp)	PECR (A200D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222069	NM_018441.6(PECR):c.605G>A (p.Gly202Glu)	PECR (G202E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207050	NM_018441.6(PECR):c.317A>C (p.Asn106Thr)	PECR (N106T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526950	GRCh37/hg19 2q34-36.1(chr2:215108009-221679980)	AAMP, ABCA12 +72 more	Copy number gain	not specified	GPathogenic
Select item 1340964	GRCh37/hg19 2q35(chr2:216802244-217200292)x3	MARCHF4, MREG +3 more	Copy number gain	not provided	GUncertain significance
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 980004	GRCh37/hg19 2q34-35(chr2:215122019-220397907)x1	AAMP, ABCA12 +66 more	Copy number loss	not provided	GLikely pathogenic
Select item 816573	GRCh37/hg19 2q35(chr2:216883237-220953003)x3	CXCR2, FEV +65 more	Copy number gain	not provided	GPathogenic
Select item 790515	NM_018441.6(PECR):c.505G>C (p.Val169Leu)	PECR (V169L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 775811	NM_018441.6(PECR):c.183A>G (p.Glu61=)	PECR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 709631	NM_018441.6(PECR):c.249T>C (p.Asn83=)	PECR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 687628	GRCh37/hg19 2q35(chr2:216937755-217001750)x3	PECR, TMEM169 +1 more	Copy number gain	not provided	GUncertain significance
Select item 638100	GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3	CTDSP1, NGEF +197 more	Copy number gain	See cases	GPathogenic
Select item 635897	Single allele	ACSL3, ADAM23 +208 more	Duplication	Neurodevelopmental disorder	GPathogenic
Select item 562677	GRCh37/hg19 2q33.3-35(chr2:205169148-219149293)x3	AAMP, ABCA12 +60 more	Copy number gain	not provided	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442002	GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3	AAMP, ABCA12 +225 more	Copy number gain	See cases	GPathogenic
Select item 221795	GRCh37/hg19 2q35(chr2:216629374-217251859)x3	XRCC5, PECR +3 more	Copy number gain	Premature ovarian failure	GUncertain significance
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 150323	GRCh38/hg38 2q35(chr2:215908412-216680325)x3	IGFBP2, IGFBP5 +40 more	Copy number gain	See cases	GLikely benign
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1148 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 53