9344[HGNC] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144356	GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1	AAMDC, ACER3 +474 more	Copy number loss	See cases	GPathogenic
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	LINC02553, LINC02700 +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 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 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 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	GRIA4, GRIK4 +956 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	ACER3, ACP2 +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)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +1289 more	Copy number gain	See cases	GPathogenic

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Items: 40