GPR83[gene] - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144356	GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1	LOC130006570, LOC130006571 +474 more	Copy number loss	See cases	GPathogenic
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	KBTBD3, KDM4D +528 more	Copy number loss	See cases	GPathogenic
Select item 58919	GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1	LOC101929174, LOC102723838 +378 more	Copy number loss	See cases	GPathogenic
Select item 148976	GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1	LOC130006596, LOC130006597 +387 more	Copy number loss	See cases	GPathogenic
Select item 145480	GRCh38/hg38 11q21(chr11:94324282-96081666)x3	AMOTL1, ANKRD49 +57 more	Copy number gain	See cases	GUncertain significance
Select item 3282450	NM_016540.4(GPR83):c.1256T>C (p.Ile419Thr)	GPR83 (I419T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276681	NM_016540.4(GPR83):c.1237C>A (p.Leu413Met)	GPR83 (L371M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101873	NM_016540.4(GPR83):c.1220A>T (p.Gln407Leu)	GPR83 (Q365L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404720	NM_016540.4(GPR83):c.1186C>T (p.Leu396Phe)	GPR83 (L396F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282454	NM_016540.4(GPR83):c.1180G>A (p.Ala394Thr)	GPR83 (A394T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541700	NM_016540.4(GPR83):c.1150G>A (p.Ala384Thr)	GPR83 (A384T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347614	NM_016540.4(GPR83):c.1145G>A (p.Arg382Lys)	GPR83 (R382K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250936	NM_016540.4(GPR83):c.1096C>A (p.Pro366Thr)	GPR83 (P366T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596258	NM_016540.4(GPR83):c.1011C>G (p.Ser337Arg)	GPR83 (S295R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333574	NM_016540.4(GPR83):c.992A>G (p.His331Arg)	GPR83 (H289R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296205	NM_016540.4(GPR83):c.937C>T (p.Leu313Phe)	GPR83 (L271F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338237	NM_016540.4(GPR83):c.914G>C (p.Trp305Ser)	GPR83 (W263S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361673	NM_016540.4(GPR83):c.853C>T (p.Arg285Cys)	GPR83 (R243C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518827	NM_016540.4(GPR83):c.851G>A (p.Arg284Gln)	GPR83 (R242Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301846	NM_016540.4(GPR83):c.785T>A (p.Val262Glu)	GPR83 (V220E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225946	NM_016540.4(GPR83):c.709A>G (p.Lys237Glu)	GPR83 (K237E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460415	NM_016540.4(GPR83):c.662G>A (p.Arg221His)	GPR83 (R179H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534319	NM_016540.4(GPR83):c.658G>T (p.Val220Leu)	GPR83 (V178L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782544	NM_016540.4(GPR83):c.654C>A (p.Asp218Glu)	GPR83 (D218E +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3282451	NM_016540.4(GPR83):c.586A>G (p.Met196Val)	GPR83 (M196V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396387	NM_016540.4(GPR83):c.571G>T (p.Ala191Ser)	GPR83 (A149S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206657	NM_016540.4(GPR83):c.538C>T (p.Arg180Trp)	GPR83 (R138W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382315	NM_016540.4(GPR83):c.505C>T (p.Arg169Cys)	GPR83 (R169C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101875	NM_016540.4(GPR83):c.494T>C (p.Ile165Thr)	GPR83 (I165T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545298	NM_016540.4(GPR83):c.488C>G (p.Thr163Arg)	GPR83 (T163R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535544	NM_016540.4(GPR83):c.443G>A (p.Arg148His)	GPR83 (R148H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462181	NM_016540.4(GPR83):c.442C>T (p.Arg148Cys)	GPR83 (R148C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282452	NM_016540.4(GPR83):c.440G>T (p.Ser147Ile)	GPR83 (S147I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546771	NM_016540.4(GPR83):c.265A>G (p.Asn89Asp)	GPR83 (N89D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 734557	NM_016540.4(GPR83):c.217C>T (p.Leu73=)	GPR83	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3282453	NM_016540.4(GPR83):c.206C>T (p.Thr69Met)	GPR83 (T69M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101874	NM_016540.4(GPR83):c.149C>T (p.Ser50Phe)	GPR83 (S50F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477862	NM_016540.4(GPR83):c.67C>T (p.Arg23Trp)	GPR83 (R23W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063184	GRCh37/hg19 11q21(chr11:94130773-94280193)x1	ANKRD49, FUT4 +2 more	Copy number loss	not specified	GPathogenic
Select item 2685418	GRCh37/hg19 11q21(chr11:94130774-94676552)x1	AMOTL1, ANKRD49 +4 more	Copy number loss	not provided	GUncertain significance
Select item 2582900	GRCh37/hg19 11q21(chr11:94126651-94331081)x1	ANKRD49, FUT4 +3 more	Copy number loss	not provided	GLikely pathogenic
Select item 1809349	GRCh37/hg19 11q14.1-22.3(chr11:81478509-104667040)x1	AMOTL1, ANGPTL5 +93 more	Copy number loss	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527664	GRCh37/hg19 11q21(chr11:94130773-94283185)	ANKRD49, FUT4 +2 more	Copy number loss	not specified	GUncertain significance
Select item 1527663	GRCh37/hg19 11q21(chr11:93975926-94529037)	AMOTL1, ANKRD49 +5 more	Copy number gain	not specified	GUncertain significance
Select item 1527661	GRCh37/hg19 11q14.3-21(chr11:90906452-94437087)	ANKRD49, C11orf54 +16 more	Copy number gain	not specified	GUncertain significance
Select item 1527655	GRCh37/hg19 11q14.1-21(chr11:80318996-96116221)	AMOTL1, ANKRD42 +66 more	Copy number loss	not specified	GPathogenic
Select item 1527654	GRCh37/hg19 11q14.1-22.1(chr11:77855209-98002445)	AMOTL1, ANKRD42 +72 more	Copy number loss	not specified	GPathogenic
Select item 1340004	GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1	AASDHPPT, ACAT1 +182 more	Copy number loss	not provided	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 980970	GRCh37/hg19 11q21(chr11:93676223-94342737)x3	ANKRD49, FUT4 +6 more	Copy number gain	not provided	GUncertain significance
Select item 686079	GRCh37/hg19 11q21(chr11:94130773-94283185)x1	ANKRD49, FUT4 +2 more	Copy number loss	not provided	GUncertain significance
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 563862	GRCh37/hg19 11q21(chr11:93989761-94819546)x3	KDM4E, PIWIL4 +9 more	Copy number gain	not provided	GUncertain significance
Select item 563856	GRCh37/hg19 11q21(chr11:93975926-94626160)x3	PIWIL4, GPR83 +5 more	Copy number gain	not provided	GUncertain significance
Select item 563844	GRCh37/hg19 11q21(chr11:93934796-94301509)x3	MRE11, PIWIL4 +4 more	Copy number gain	not provided	GUncertain significance
Select item 563820	GRCh37/hg19 11q21(chr11:94130773-94283185)x1	GPR83, ANKRD49 +2 more	Copy number loss	not provided	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441837	GRCh37/hg19 11q14.2-22.3(chr11:88152458-109414650)x1	AASDHPPT, ACAT1 +95 more	Copy number loss	See cases	GPathogenic

ClinVar

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Items: 60