272[HGNC] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57743	GRCh38/hg38 14q11.2(chr14:19755249-22741281)x1	ABHD4, ANG +312 more	Copy number loss	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 1341750	NC_000014.9:g.20013858_20436718dup	CCNB1IP1, KLHL33 +24 more	Duplication	14q11.2 microduplication syndrome	GUncertain significance
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 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 59933	GRCh38/hg38 14q11.2(chr14:20127290-21376436)x3	ANG, APEX1 +119 more	Copy number gain	See cases	GPathogenic
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 57246	GRCh38/hg38 14q11.2(chr14:20151149-23442195)x3	ABHD4, ACIN1 +399 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 147619	GRCh38/hg38 14q11.2(chr14:20289246-20418076)x3	CCNB1IP1, LOC126861878 +14 more	Copy number gain	See cases	GBenign
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 3208750	NM_001042618.2(PARP2):c.19C>G (p.Arg7Gly)	LOC130055247, PARP2 (R7G)	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 2519693	NM_001042618.2(PARP2):c.37A>G (p.Arg13Gly)	LOC130055247, PARP2 (R13G)	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 2323838	NM_001042618.2(PARP2):c.202+13G>A	PARP2 (R72K)	Single nucleotide variant (missense variant +1 more)	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 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 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 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 779651	NM_001042618.2(PARP2):c.443G>A (p.Ser148Asn)	PARP2 (S148N +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
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 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 727595	NM_001042618.2(PARP2):c.477C>T (p.Ala159=)	PARP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 1230992	NM_001042618.2(PARP2):c.665A>G (p.Asp222Gly)	PARP2 (D222G +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
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 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 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 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 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 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 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 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 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 779652	NM_001042618.2(PARP2):c.1033T>C (p.Leu345=)	PARP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 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 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 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 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 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 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 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 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 734062	NM_001042618.2(PARP2):c.1632T>C (p.Asn544=)	PARP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 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 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 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 65