7891[HGNC] - ClinVar

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Items: 55

	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 58919	GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1	LOC101929174, LOC102723838 +378 more	Copy number loss	See cases	GPathogenic
Select item 2352441	NM_016931.5(NOX4):c.1472A>G (p.Tyr491Cys)	NOX4 (Y512C +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786601	NM_016931.5(NOX4):c.1408C>T (p.Arg470Cys)	NOX4 (R430C +6 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2570149	NM_016931.5(NOX4):c.1384G>A (p.Val462Ile)	NOX4 (V398I +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201449	NM_016931.5(NOX4):c.1375T>C (p.Phe459Leu)	NOX4 (F385L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208685	NM_016931.5(NOX4):c.1375T>A (p.Phe459Ile)	NOX4 (F459I +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791177	NM_016931.5(NOX4):c.1218-6C>T	NOX4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3201448	NM_016931.5(NOX4):c.1202C>A (p.Ser401Tyr)	NOX4 (S327Y +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554619	NM_016931.5(NOX4):c.1036G>A (p.Val346Ile)	NOX4 (V321I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260623	NM_016931.5(NOX4):c.1001G>T (p.Arg334Ile)	NOX4 (R260I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607179	NM_016931.5(NOX4):c.943A>G (p.Met315Val)	NOX4 (M291V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522175	NM_016931.5(NOX4):c.910C>T (p.Arg304Trp)	NOX4 (R230W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303207	NM_016931.5(NOX4):c.889G>A (p.Glu297Lys)	NOX4 (E272K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786208	NM_016931.5(NOX4):c.888C>G (p.Ala296=)	NOX4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2287290	NM_016931.5(NOX4):c.862T>G (p.Ser288Ala)	NOX4 (S264A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201451	NM_016931.5(NOX4):c.858G>C (p.Trp286Cys)	NOX4 (W262C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607943	NM_016931.5(NOX4):c.858G>T (p.Trp286Cys)	NOX4 (W212C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 722792	NM_016931.5(NOX4):c.672C>T (p.Pro224=)	NOX4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2455688	NM_016931.5(NOX4):c.642G>T (p.Lys214Asn)	NOX4 (K189N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483612	NM_016931.5(NOX4):c.618G>T (p.Leu206Phe)	NOX4 (L132F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 153608	GRCh38/hg38 11q14.3(chr11:89425778-90689442)x1	CHORDC1, DISC1FP1 +17 more	Copy number loss	See cases	GUncertain significance
Select item 2481795	NM_016931.5(NOX4):c.512T>C (p.Leu171Pro)	NOX4 (L146P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364586	NM_016931.5(NOX4):c.503T>C (p.Val168Ala)	NOX4 (V143A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613757	NM_016931.5(NOX4):c.502G>T (p.Val168Leu)	NOX4 (V143L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346513	NM_016931.5(NOX4):c.352G>A (p.Val118Met)	NOX4 (V118M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201450	NM_016931.5(NOX4):c.311T>G (p.Phe104Cys)	NOX4 (F125C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 707952	NM_016931.5(NOX4):c.291G>T (p.Leu97Phe)	NOX4 (L23F +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 712108	NM_016931.5(NOX4):c.285G>A (p.Arg95=)	NOX4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2353010	NM_016931.5(NOX4):c.260A>G (p.Gln87Arg)	NOX4 (Q63R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408582	NM_016931.5(NOX4):c.232A>G (p.Thr78Ala)	NOX4 (T4A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397334	NM_016931.5(NOX4):c.220C>T (p.Pro74Ser)	NOX4 (P95S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1228745	NM_016931.5(NOX4):c.57+224_57+226dup	NOX4	Duplication (inframe_insertion +1 more)	not provided	GBenign
Select item 2338545	NM_016931.5(NOX4):c.43A>G (p.Lys15Glu)	NOX4 (K15E)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2509842	NM_016931.5(NOX4):c.28G>A (p.Ala10Thr)	NOX4 (A10T)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2559097	NM_016931.5(NOX4):c.17G>A (p.Arg6Lys)	NOX4 (R6K)	Single nucleotide variant (missense variant +3 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 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527656	GRCh37/hg19 11q14.1-21(chr11:84924674-93574799)	C11orf54, CCDC81 +39 more	Copy number loss	not specified	GLikely pathogenic
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	PCSK7, PGR +183 more	Copy number loss	not provided	GUncertain significance
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 980966	GRCh37/hg19 11q14.3(chr11:89278420-89407697)x1	FOLH1B, NOX4	Copy number loss	not provided	GUncertain significance
Select item 815455	GRCh37/hg19 11q14.3(chr11:89071360-89543740)x3	FOLH1B, NOX4 +2 more	Copy number gain	not provided	GUncertain significance
Select item 815454	GRCh37/hg19 11q14.3(chr11:89062443-89762600)x3	FOLH1B, NOX4 +6 more	Copy number gain	not provided	GLikely benign
Select item 815449	GRCh37/hg19 11q14.1-14.3(chr11:84830143-92029933)x3	CCDC81, CCDC83 +29 more	Copy number gain	not provided	GPathogenic
Select item 686853	GRCh37/hg19 11q14.3(chr11:88993686-89059590)x3	NOX4, TYR	Copy number gain	not provided	GUncertain significance
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
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 226280	GRCh37/hg19 11q14.2-14.3(chr11:87099219-91921385)	CTSC, FOLH1B +14 more	Copy number loss	Abnormal esophagus morphology	GLikely benign

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Items: 55