5547[Gene ID] - ClinVar

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

Search results

Items: 44

	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 59771	GRCh38/hg38 11q14.1-14.2(chr11:78362208-86165380)x3	ANKRD42, ANKRD42-DT +117 more	Copy number gain	See cases	GPathogenic
Select item 3218313	NM_005040.4(PRCP):c.1443G>A (p.Met481Ile)	PRCP (M481I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350278	NM_005040.4(PRCP):c.1439A>G (p.His480Arg)	PRCP (H480R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218312	NM_005040.4(PRCP):c.1404G>A (p.Met468Ile)	PRCP (M363I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378430	NM_005040.4(PRCP):c.1379G>A (p.Arg460His)	PRCP (R355H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463574	NM_005040.4(PRCP):c.1378C>T (p.Arg460Cys)	PRCP (R460C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307733	NM_005040.4(PRCP):c.1342G>T (p.Val448Phe)	PRCP (V343F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570325	NM_005040.4(PRCP):c.1304G>A (p.Gly435Asp)	PRCP (G435D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498205	NM_005040.4(PRCP):c.1290C>A (p.Asp430Glu)	PRCP (D325E +2 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 3218310	NM_005040.4(PRCP):c.1243A>G (p.Asn415Asp)	PRCP (N436D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236704	NM_005040.4(PRCP):c.1225A>G (p.Thr409Ala)	PRCP (T304A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487668	NM_005040.4(PRCP):c.1222A>C (p.Thr408Pro)	PRCP (T408P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588087	NM_005040.4(PRCP):c.1129G>A (p.Asp377Asn)	PRCP (D272N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 726101	NM_005040.4(PRCP):c.1049C>A (p.Ala350Glu)	PRCP (A245E +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2356052	NM_005040.4(PRCP):c.991C>G (p.Leu331Val)	PRCP (L226V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401175	NM_005040.4(PRCP):c.855T>A (p.Asn285Lys)	PRCP (N285K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476031	NM_005040.4(PRCP):c.717G>T (p.Arg239Ser)	PRCP (R260S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455994	NM_005040.4(PRCP):c.688G>A (p.Gly230Ser)	PRCP (G230S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375837	NM_005040.4(PRCP):c.681G>C (p.Arg227Ser)	PRCP (R227S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543038	NM_005040.4(PRCP):c.626T>C (p.Phe209Ser)	PRCP (F209S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598376	NM_005040.4(PRCP):c.624G>C (p.Gln208His)	PRCP (Q103H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309730	NM_005040.4(PRCP):c.488G>A (p.Arg163Lys)	PRCP (R58K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309732	NM_005040.4(PRCP):c.348G>A (p.Met116Ile)	PRCP (M137I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455115	NM_005040.4(PRCP):c.318G>A (p.Met106Ile)	PRCP (M1I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309728	NM_005040.4(PRCP):c.317T>C (p.Met106Thr)	PRCP (M127T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 720381	NM_005040.4(PRCP):c.258A>G (p.Ile86Met)	PRCP (I107M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3218314	NM_005040.4(PRCP):c.212G>A (p.Arg71Gln)	PRCP (R92Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309729	NM_005040.4(PRCP):c.193G>C (p.Val65Leu)	PRCP (V65L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472638	NM_005040.4(PRCP):c.191C>T (p.Thr64Ile)	PRCP (T85I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335303	NM_005040.4(PRCP):c.58A>G (p.Ile20Val)	LOC130006517, PRCP (I20V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275178	NM_005040.4(PRCP):c.46C>T (p.Pro16Ser)	LOC130006517, PRCP (P16S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279519	NM_005040.4(PRCP):c.16C>T (p.Leu6Phe)	PRCP (L6F)	Single nucleotide variant (missense variant +1 more)	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 1808656	GRCh37/hg19 11q14.1-14.3(chr11:80562738-88663067)x1	ANKRD42, CCDC81 +23 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 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 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 590793	GRCh37/hg19 11q14.1-14.3(chr11:81771852-90851187)	GRM5, HIKESHI +36 more	Copy number loss	Intellectual disability	GPathogenic
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 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

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: 44