11878[HGNC] - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	BCL9L, BLID +774 more	Copy number gain	See cases	GPathogenic
Select item 57036	GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3	LOC130006895, LOC130006896 +355 more	Copy number gain	See cases	GPathogenic
Select item 149257	GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3	ABCG4, ACAD8 +769 more	Copy number gain	See cases	GPathogenic
Select item 144588	GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 161071	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 33553	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	LOC128772366, LOC128772367 +764 more	Copy number gain	See cases	GPathogenic
Select item 148379	GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3	LOC130006864, LOC130006865 +763 more	Copy number gain	See cases	GPathogenic
Select item 150522	GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3	LOC130007002, LOC130007003 +499 more	Copy number gain	See cases	GPathogenic
Select item 3179915	NM_019894.4(TMPRSS4):c.10G>A (p.Asp4Asn)	TMPRSS4 (D2N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2456922	NM_019894.4(TMPRSS4):c.58C>T (p.Arg20Cys)	TMPRSS4 (R18C +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3327351	NM_019894.4(TMPRSS4):c.114A>G (p.Ile38Met)	TMPRSS4 (I38M +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3327348	NM_019894.4(TMPRSS4):c.121C>G (p.Leu41Val)	TMPRSS4 (L16V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1315695	NM_019894.4(TMPRSS4):c.131C>T (p.Ala44Val)	TMPRSS4 (A19V +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 3179917	NM_019894.4(TMPRSS4):c.248G>C (p.Cys83Ser)	TMPRSS4 (C58S +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2395688	NM_019894.4(TMPRSS4):c.270G>C (p.Glu90Asp)	TMPRSS4 (E50D +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3179918	NM_019894.4(TMPRSS4):c.273C>G (p.His91Gln)	TMPRSS4 (H66Q +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2361000	NM_019894.4(TMPRSS4):c.286T>C (p.Phe96Leu)	TMPRSS4 (F71L +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2537316	NM_019894.4(TMPRSS4):c.314G>A (p.Arg105His)	TMPRSS4 (R80H +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3179919	NM_019894.4(TMPRSS4):c.329G>A (p.Arg110Gln)	TMPRSS4 (R108Q +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3179920	NM_019894.4(TMPRSS4):c.374C>A (p.Ser125Tyr)	TMPRSS4 (S85Y +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3179921	NM_019894.4(TMPRSS4):c.524G>A (p.Arg175His)	TMPRSS4 (R150H +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2606384	NM_019894.4(TMPRSS4):c.544C>G (p.Pro182Ala)	TMPRSS4 (P177A +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2642410	NM_019894.4(TMPRSS4):c.578G>C (p.Cys193Ser)	TMPRSS4 (C153S +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2514518	NM_019894.4(TMPRSS4):c.685G>A (p.Val229Ile)	TMPRSS4 (V229I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2310570	NM_019894.4(TMPRSS4):c.748C>T (p.His250Tyr)	TMPRSS4 (H245Y +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2248616	NM_019894.4(TMPRSS4):c.797G>T (p.Gly266Val)	TMPRSS4 (G241V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359457	NM_019894.4(TMPRSS4):c.832A>G (p.Ile278Val)	TMPRSS4 (I131V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3327349	NM_019894.4(TMPRSS4):c.874G>A (p.Ala292Thr)	TMPRSS4 (A145T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3327350	NM_019894.4(TMPRSS4):c.1003A>C (p.Asn335His)	TMPRSS4 (N330H +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 720715	NM_019894.4(TMPRSS4):c.1010-2A>G	TMPRSS4	Single nucleotide variant (splice acceptor variant)	not provided	GLikely benign
Select item 2522672	NM_019894.4(TMPRSS4):c.1082C>T (p.Ala361Val)	TMPRSS4 (A321V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495140	NM_019894.4(TMPRSS4):c.1095A>T (p.Glu365Asp)	TMPRSS4 (E218D +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179916	NM_019894.4(TMPRSS4):c.1118C>T (p.Ala373Val)	TMPRSS4 (A371V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210613	NM_019894.4(TMPRSS4):c.1139T>G (p.Val380Gly)	TMPRSS4 (V375G +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260693	NM_019894.4(TMPRSS4):c.1142A>T (p.Asp381Val)	TMPRSS4 (D234V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480832	NM_019894.4(TMPRSS4):c.1162G>T (p.Gly388Cys)	TMPRSS4 (G348C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361806	NM_019894.4(TMPRSS4):c.1162G>C (p.Gly388Arg)	TMPRSS4 (G388R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204184	NM_019894.4(TMPRSS4):c.1196A>C (p.His399Pro)	TMPRSS4 (H359P +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408314	NM_019894.4(TMPRSS4):c.1250G>A (p.Gly417Glu)	TMPRSS4 (G412E +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148862	GRCh37/hg19 11q23.3-25(chr11:116683755-134937416)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2422557	NC_000011.9:g.(?_117209303)_(120133495_?)dup	ABCG4, ARCN1 +54 more	Duplication	not provided	GUncertain significance
Select item 2422303	NC_000011.9:g.(?_116691583)_(121500272_?)dup	ABCG4, APOA1 +72 more	Duplication	Immunodeficiency 19 +5 more	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1410294	NC_000011.9:g.(?_116660844)_(121500272_?)dup	FOXR1, FXYD6 +73 more	Duplication	not provided	GUncertain significance
Select item 1341168	GRCh37/hg19 11q23.1-24.3(chr11:112375478-128785742)x3	ABCG4, ACRV1 +172 more	Copy number gain	not provided	GPathogenic
Select item 1340116	GRCh37/hg19 11q23.3(chr11:117956263-118037183)x1	SCN2B, SCN4B +1 more	Copy number loss	not provided	GUncertain significance
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 1007237	NC_000011.9:g.(?_117856768)_(118972385_?)dup	ARCN1, ATP5MG +31 more	Duplication	Inflammatory bowel disease 28 +4 more	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 973579	NC_000011.9:g.104288964_134937416dup	VSIG2, VWA5A +259 more	Duplication	Distal trisomy 11q	GPathogenic
Select item 831101	NC_000011.9:g.(?_117856768)_(118972385_?)del	ARCN1, ATP5MG +31 more	Deletion	Combined immunodeficiency due to CD3gamma deficiency +3 more	GPathogenic
Select item 812956	Single allele	APLP2, LINC02873 +169 more	Deletion	Anemia +7 more	GLikely pathogenic
Select item 687452	GRCh37/hg19 11q23.3-25(chr11:117830263-134938470)x3	CD3G, CDON +160 more	Copy number gain	not provided	GPathogenic
Select item 625808	GRCh37/hg19 11q23.3-25(chr11:116700253-134904063)	BACE1, BACE1-AS +176 more	Copy number gain	not provided	GPathogenic
Select item 625659	GRCh37/hg19 11q23.3-25(chr11:116691675-134889485)	ARHGAP32, ARHGEF12 +177 more	Copy number gain	not provided	GPathogenic
Select item 563884	GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 563876	GRCh37/hg19 11q23.3(chr11:116669751-120979377)x3	ABCG4, APOA1 +70 more	Copy number gain	not provided	GLikely pathogenic
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 441664	GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3	ABCG4, ACAD8 +177 more	Copy number gain	See cases	GPathogenic
Select item 253520	GRCh37/hg19 11q23.3(chr11:115215434-120559928)x3	ABCG4, APOA1 +72 more	Copy number gain	See cases	GPathogenic

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Items: 63