PWWP2A[gene] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	ADAM19, ADAMTS2 +1166 more	Copy number gain	See cases	GPathogenic
Select item 149231	GRCh38/hg38 5q33.1-34(chr5:152443869-166104392)x1	ADAM19, ADRA1B +294 more	Copy number loss	See cases	GPathogenic
Select item 58390	GRCh38/hg38 5q33.1-34(chr5:152761187-167248053)x1	ADAM19, ADRA1B +279 more	Copy number loss	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	ADAM19, ADAMTS2 +863 more	Copy number gain	See cases	GPathogenic
Select item 1707452	Single allele	ADRA1B, ATP10B +110 more	Duplication	not specified	GUncertain significance
Select item 149967	GRCh38/hg38 5q33.3-34(chr5:158941354-164386760)x1	ADRA1B, ATP10B +107 more	Copy number loss	See cases	GPathogenic
Select item 2471753	NM_003314.3(TTC1):c.605C>T (p.Thr202Met)	PWWP2A, TTC1 (T202M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599797	NM_003314.3(TTC1):c.643A>G (p.Ile215Val)	PWWP2A, TTC1 (I215V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184052	NM_003314.3(TTC1):c.677G>A (p.Arg226Lys)	PWWP2A, TTC1 (R226K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487116	NM_003314.3(TTC1):c.740T>C (p.Met247Thr)	PWWP2A, TTC1 (M247T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289238	NM_003314.3(TTC1):c.772G>A (p.Val258Ile)	PWWP2A, TTC1 (V258I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 402170	NM_003314.3(TTC1):c.784T>G (p.Phe262Val)	PWWP2A, TTC1 (F262V)	Single nucleotide variant (missense variant)	Abnormal brain morphology	GLikely pathogenic
Select item 3184053	NM_003314.3(TTC1):c.813C>G (p.Ile271Met)	PWWP2A, TTC1 (I271M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238942	NM_052927.4(PWWP2A):c.1579A>C (p.Thr527Pro)	PWWP2A (T527P +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2656009	NM_001130864.2(PWWP2A):c.2232C>T (p.Pro744=)	PWWP2A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3149940	NM_001130864.2(PWWP2A):c.2189A>G (p.Lys730Arg)	PWWP2A (K513R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394952	NM_001130864.2(PWWP2A):c.1990T>C (p.Tyr664His)	PWWP2A (Y447H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477872	NM_001130864.2(PWWP2A):c.1921A>C (p.Asn641His)	PWWP2A (N641H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515760	NM_001130864.2(PWWP2A):c.1909G>A (p.Val637Ile)	PWWP2A (V420I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2470919	NM_001130864.2(PWWP2A):c.1880A>G (p.Lys627Arg)	PWWP2A (K410R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217684	NM_001130864.2(PWWP2A):c.1878G>C (p.Glu626Asp)	PWWP2A (E409D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594589	NM_001130864.2(PWWP2A):c.1841C>G (p.Pro614Arg)	PWWP2A (P614R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494588	NM_001130864.2(PWWP2A):c.1724C>A (p.Ser575Tyr)	PWWP2A (S575Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363500	NM_001130864.2(PWWP2A):c.1704G>A (p.Met568Ile)	PWWP2A (M568I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 789476	NM_001130864.2(PWWP2A):c.1701T>C (p.Tyr567=)	PWWP2A	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3149938	NM_001130864.2(PWWP2A):c.1644T>G (p.Asp548Glu)	PWWP2A (D331E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3149937	NM_001130864.2(PWWP2A):c.1573A>G (p.Ser525Gly)	PWWP2A (S308G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149936	NM_001130864.2(PWWP2A):c.1483G>A (p.Glu495Lys)	PWWP2A (E278K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149935	NM_001130864.2(PWWP2A):c.1475C>T (p.Thr492Ile)	PWWP2A (T275I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149934	NM_001130864.2(PWWP2A):c.1352A>G (p.Asn451Ser)	PWWP2A (N234S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363633	NM_001130864.2(PWWP2A):c.1261A>G (p.Lys421Glu)	PWWP2A (K421E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483615	NM_001130864.2(PWWP2A):c.1123A>G (p.Asn375Asp)	PWWP2A (N158D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149942	NM_001130864.2(PWWP2A):c.703G>A (p.Ala235Thr)	PWWP2A (A235T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295014	NM_001130864.2(PWWP2A):c.598G>A (p.Gly200Ser)	PWWP2A (G200S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2596273	NM_001130864.2(PWWP2A):c.505A>G (p.Ile169Val)	PWWP2A (I169V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2534508	NM_001130864.2(PWWP2A):c.454A>G (p.Thr152Ala)	PWWP2A (T152A)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3149941	NM_001130864.2(PWWP2A):c.401C>T (p.Pro134Leu)	PWWP2A (P134L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 719277	NM_001130864.2(PWWP2A):c.213A>G (p.Pro71=)	PWWP2A	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2373206	NM_001130864.2(PWWP2A):c.209C>T (p.Pro70Leu)	PWWP2A (P70L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2524700	NM_001130864.2(PWWP2A):c.179C>A (p.Ala60Asp)	PWWP2A (A60D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2509576	NM_001130864.2(PWWP2A):c.23C>T (p.Ala8Val)	PWWP2A (A8V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3149939	NM_001130864.2(PWWP2A):c.16G>A (p.Ala6Thr)	PWWP2A (A6T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1879644	GRCh37/hg19 5q33.3-34(chr5:156786013-162945369)x1	ADAM19, ADRA1B +29 more	Copy number loss	not provided	GLikely pathogenic
Select item 1808993	GRCh37/hg19 5q33.3-34(chr5:159535230-161656766)x3	ATP10B, C1QTNF2 +11 more	Copy number gain	not provided	GUncertain significance
Select item 1808662	GRCh37/hg19 5q33.1-35.2(chr5:150535183-172906793)x3	ADAM19, ADRA1B +98 more	Copy number gain	not provided	GPathogenic
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 1339784	GRCh37/hg19 5q33.3-34(chr5:155970607-162450579)x1	ADAM19, ADRA1B +33 more	Copy number loss	not provided	Gnot provided
Select item 814757	GRCh37/hg19 5q33.3-34(chr5:157801321-162780186)x1	GABRA1, PTTG1 +17 more	Copy number loss	not provided	GPathogenic
Select item 814756	GRCh37/hg19 5q33.3-35.1(chr5:156347980-169959880)x1	ADAM19, ADRA1B +51 more	Copy number loss	not provided	GPathogenic
Select item 684880	GRCh37/hg19 5q33.3-35.1(chr5:156597181-171166353)x3	C5orf52, ADAM19 +51 more	Copy number gain	not provided	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 253504	GRCh37/hg19 5q33.2-35.1(chr5:154886174-169757448)x1	ADAM19, ADRA1B +50 more	Copy number loss	See cases	GPathogenic

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Items: 56