ClinVar for Gene (Select 10038) - ClinVar

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Links from Gene

Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3304396	NM_001042618.2(PARP2):c.830G>C (p.Arg277Pro)	PARP2 (R277P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304395	NM_001042618.2(PARP2):c.554C>T (p.Pro185Leu)	PARP2 (P185L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304394	NM_001042618.2(PARP2):c.1046A>G (p.Tyr349Cys)	PARP2 (Y362C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304393	NM_001042618.2(PARP2):c.1016A>G (p.Gln339Arg)	PARP2 (Q352R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208754	NM_001042618.2(PARP2):c.857T>C (p.Met286Thr)	PARP2 (M286T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208753	NM_001042618.2(PARP2):c.815T>C (p.Ile272Thr)	PARP2 (I285T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208752	NM_001042618.2(PARP2):c.301G>A (p.Val101Ile)	PARP2 (V101I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208751	NM_001042618.2(PARP2):c.202+37C>G	PARP2 (S80C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208750	NM_001042618.2(PARP2):c.19C>G (p.Arg7Gly)	LOC130055247, PARP2 (R7G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208749	NM_001042618.2(PARP2):c.1546G>A (p.Val516Ile)	PARP2 (V516I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3208748	NM_001042618.2(PARP2):c.143A>C (p.Lys48Thr)	PARP2 (K48T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208747	NM_001042618.2(PARP2):c.1297G>A (p.Ala433Thr)	PARP2 (A446T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208746	NM_001042618.2(PARP2):c.1250C>A (p.Ser417Tyr)	PARP2 (S417Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208745	NM_001042618.2(PARP2):c.1147G>A (p.Asp383Asn)	PARP2 (D383N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063333	GRCh37/hg19 14q11.2(chr14:20511672-20903963)x3	CCNB1IP1, KLHL33 +10 more	Copy number gain	not specified	GUncertain significance
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2622761	NM_001042618.2(PARP2):c.955C>G (p.Gln319Glu)	PARP2 (Q319E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2565511	NM_001042618.2(PARP2):c.908G>A (p.Arg303His)	PARP2 (R303H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528337	NM_001042618.2(PARP2):c.1100A>G (p.Lys367Arg)	PARP2 (K380R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519693	NM_001042618.2(PARP2):c.37A>G (p.Arg13Gly)	LOC130055247, PARP2 (R13G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2492322	NM_001042618.2(PARP2):c.865T>C (p.Cys289Arg)	PARP2 (C289R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490704	NM_001042618.2(PARP2):c.35G>T (p.Gly12Val)	LOC130055247, PARP2 (G12V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490592	NM_001042618.2(PARP2):c.1526C>T (p.Ala509Val)	PARP2 (A522V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475279	NM_001042618.2(PARP2):c.425G>A (p.Gly142Glu)	PARP2 (G142E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468605	NM_001042618.2(PARP2):c.625G>C (p.Glu209Gln)	PARP2 (E209Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456579	NM_001042618.2(PARP2):c.448G>A (p.Val150Met)	PARP2 (V163M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402705	NM_001042618.2(PARP2):c.1670G>A (p.Arg557Gln)	PARP2 (R557Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387478	NM_001042618.2(PARP2):c.841C>T (p.His281Tyr)	PARP2 (H281Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352971	NM_001042618.2(PARP2):c.238C>G (p.Pro80Ala)	PARP2 (P80A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323838	NM_001042618.2(PARP2):c.202+13G>A	PARP2 (R72K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301463	NM_001042618.2(PARP2):c.1417C>G (p.Leu473Val)	PARP2 (L473V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290517	NM_001042618.2(PARP2):c.17G>C (p.Arg6Pro)	LOC130055247, PARP2 (R6P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278187	NM_001042618.2(PARP2):c.455G>A (p.Cys152Tyr)	PARP2 (C152Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269505	NM_001042618.2(PARP2):c.1499A>G (p.His500Arg)	PARP2 (H500R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256595	NM_001042618.2(PARP2):c.1359G>A (p.Met453Ile)	PARP2 (M453I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212447	NM_001042618.2(PARP2):c.856A>G (p.Met286Val)	PARP2 (M299V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808729	GRCh37/hg19 14q11.2(chr14:20690196-23114522)x1	ABHD4, ANG +52 more	Copy number loss	not provided	GPathogenic
Select item 1703540	GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203)	ABHD4, ACIN1 +197 more	Copy number gain	Seizure	GPathogenic
Select item 1527801	GRCh37/hg19 14q11.2(chr14:20664697-21017250)	APEX1, CCNB1IP1 +12 more	Copy number gain	not specified	GUncertain significance
Select item 1341750	NC_000014.9:g.20013858_20436718dup	CCNB1IP1, KLHL33 +24 more	Duplication	14q11.2 microduplication syndrome	GUncertain significance
Select item 1230992	NM_001042618.2(PARP2):c.665A>G (p.Asp222Gly)	PARP2 (D222G +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 980000	GRCh37/hg19 14q11.2(chr14:20511672-21915516)x1	ANG, APEX1 +46 more	Copy number loss	not provided	GPathogenic
Select item 973024	GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3	AKAP6, MDP1 +187 more	Copy number gain	not provided	Gnot provided
Select item 815628	GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3	ABHD4, ACIN1 +187 more	Copy number gain	not provided	GPathogenic
Select item 779652	NM_001042618.2(PARP2):c.1033T>C (p.Leu345=)	PARP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 779651	NM_001042618.2(PARP2):c.443G>A (p.Ser148Asn)	PARP2 (S148N +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 734062	NM_001042618.2(PARP2):c.1632T>C (p.Asn544=)	PARP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 727595	NM_001042618.2(PARP2):c.477C>T (p.Ala159=)	PARP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 687535	GRCh37/hg19 14q11.2(chr14:20511672-20903963)x3	CCNB1IP1, KLHL33 +10 more	Copy number gain	not provided	GUncertain significance
Select item 685568	GRCh37/hg19 14q11.2(chr14:20511672-21174548)x3	ANG, APEX1 +25 more	Copy number gain	not provided	GUncertain significance
Select item 625814	GRCh37/hg19 14q11.2-12(chr14:19100682-28730087)	ARHGEF40, BCL2L2 +152 more	Copy number gain	not provided	GPathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic
Select item 394361	GRCh37/hg19 14q11.2-13.1(chr14:19794561-34049214)x3	OR5AU1, OR6S1 +164 more	Copy number gain	See cases	GPathogenic
Select item 253659	GRCh37/hg19 14q11.2-12(chr14:19794561-27768254)x3	ABHD4, ACIN1 +149 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 147619	GRCh38/hg38 14q11.2(chr14:20289246-20418076)x3	CCNB1IP1, LOC126861878 +14 more	Copy number gain	See cases	GBenign
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 59933	GRCh38/hg38 14q11.2(chr14:20127290-21376436)x3	ANG, APEX1 +119 more	Copy number gain	See cases	GPathogenic
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 57743	GRCh38/hg38 14q11.2(chr14:19755249-22741281)x1	ABHD4, ANG +312 more	Copy number loss	See cases	GPathogenic
Select item 57246	GRCh38/hg38 14q11.2(chr14:20151149-23442195)x3	ABHD4, ACIN1 +399 more	Copy number gain	See cases	GPathogenic

ClinVar

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Germline classification

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Links from Gene

Items: 65