ClinVar for Gene (Select 10888) - ClinVar

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

Links from Gene

Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3282453	NM_016540.4(GPR83):c.206C>T (p.Thr69Met)	GPR83 (T69M)	Single nucleotide variant (missense variant)	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 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 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 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 3101874	NM_016540.4(GPR83):c.149C>T (p.Ser50Phe)	GPR83 (S50F)	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 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 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 2582900	GRCh37/hg19 11q21(chr11:94126651-94331081)x1	ANKRD49, FUT4 +3 more	Copy number loss	not provided	GLikely pathogenic
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 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 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 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 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 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 2477862	NM_016540.4(GPR83):c.67C>T (p.Arg23Trp)	GPR83 (R23W)	Single nucleotide variant (missense variant)	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 782544	NM_016540.4(GPR83):c.654C>A (p.Asp218Glu)	GPR83 (D218E +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 734557	NM_016540.4(GPR83):c.217C>T (p.Leu73=)	GPR83	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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
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 144356	GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1	LOC130006570, LOC130006571 +474 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 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	KBTBD3, KDM4D +528 more	Copy number loss	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

Links from Gene

Items: 60