CARD16[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 148976	GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1	LOC130006596, LOC130006597 +387 more	Copy number loss	See cases	GPathogenic
Select item 147379	GRCh38/hg38 11q22.1-22.3(chr11:98357901-106059146)x1	LOC132089949, LOC132089950 +149 more	Copy number loss	See cases	GPathogenic
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 59773	GRCh38/hg38 11q22.3(chr11:104142626-107019997)x3	AASDHPPT, CARD16 +40 more	Copy number gain	See cases	GPathogenic
Select item 151264	GRCh38/hg38 11q22.3(chr11:104192271-105418437)x3	CARD16, CARD17 +16 more	Copy number gain	See cases	GLikely benign
Select item 58921	GRCh38/hg38 11q22.3(chr11:104510196-105323725)x1	CARD16, CARD17 +14 more	Copy number loss	See cases	GPathogenic
Select item 730709	NM_052889.2(CARD16):c.*342T>G	CARD16	Single nucleotide variant	not provided	GBenign
Select item 3137312	NM_052889.3(CARD16):c.*341C>A	CARD16	Single nucleotide variant	not specified	GUncertain significance
Select item 2405988	NM_052889.3(CARD16):c.*320G>A	CARD16	Single nucleotide variant	not specified	GUncertain significance
Select item 2352787	NM_052889.3(CARD16):c.*257G>A	CARD16	Single nucleotide variant	not specified	GLikely benign
Select item 2600478	NM_052889.4(CARD16):c.*186G>C	CARD16	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 2544591	NM_052889.4(CARD16):c.*174T>G	CARD16	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 2257360	NM_052889.4(CARD16):c.*61G>C	CARD16	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 2389511	NM_052889.4(CARD16):c.*56T>C	CARD16	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 2595385	NM_052889.4(CARD16):c.245A>G (p.Tyr82Cys)	CARD16 (Y82C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399718	NM_052889.4(CARD16):c.241A>G (p.Ser81Gly)	CARD16 (S65G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517122	NM_052889.4(CARD16):c.175G>A (p.Asp59Asn)	CARD16 (D43N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137311	NM_052889.4(CARD16):c.170T>C (p.Leu57Ser)	CARD16 (L41S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601841	NM_052889.4(CARD16):c.161C>A (p.Thr54Asn)	CARD16 (T54N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312455	NM_052889.4(CARD16):c.142G>T (p.Ala48Ser)	CARD16 (A32S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137310	NM_052889.4(CARD16):c.134G>A (p.Arg45His)	CARD16 (R45H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137309	NM_052889.4(CARD16):c.115G>C (p.Glu39Gln)	CARD16 (E23Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340641	NM_052889.4(CARD16):c.109C>A (p.Gln37Lys)	CARD16 (Q37K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465190	NM_052889.4(CARD16):c.47C>A (p.Ser16Tyr)	CARD16 (S16Y)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 1808942	GRCh37/hg19 11q22.3(chr11:104411149-105195575)x3	CARD16, CARD17 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1807688	GRCh37/hg19 11q22.1-22.3(chr11:101371503-109306519)x1	ACAT1, ALKBH8 +47 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 1341011	GRCh37/hg19 11q22.3(chr11:104879064-104960862)x1	CARD16, CASP1 +1 more	Copy number loss	not provided	GLikely benign
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 1075501	NC_000011.9:g.(?_94153285)_(111965700_?)del	FDXACB1, FUT4 +94 more	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
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 815467	GRCh37/hg19 11q22.3(chr11:104805250-105062846)x1	CARD17, CARD18 +4 more	Copy number loss	not provided	GLikely benign
Select item 815465	GRCh37/hg19 11q22.3(chr11:104032889-105292804)x3	CARD16, CARD17 +6 more	Copy number gain	not provided	GLikely benign
Select item 815464	GRCh37/hg19 11q22.3(chr11:103983847-106914369)x3	AASDHPPT, CARD16 +11 more	Copy number gain	not provided	GUncertain significance
Select item 815463	GRCh37/hg19 11q22.3(chr11:103980525-106914369)x1	AASDHPPT, CARD16 +11 more	Copy number loss	not provided	GUncertain significance
Select item 815462	GRCh37/hg19 11q22.3-23.2(chr11:103320065-114349787)x1	AASDHPPT, ACAT1 +76 more	Copy number loss	not provided	GPathogenic
Select item 688050	GRCh37/hg19 11q22.3-23.3(chr11:104101411-116680918)x1	AASDHPPT, ACAT1 +80 more	Copy number loss	not provided	GPathogenic
Select item 686316	GRCh37/hg19 11q22.3(chr11:104032613-105293148)x3	CARD16, CARD17 +6 more	Copy number gain	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 563877	GRCh37/hg19 11q22.2-22.3(chr11:102578709-107230611)x1	AASDHPPT, CARD16 +22 more	Copy number loss	not provided	GLikely pathogenic
Select item 442680	GRCh37/hg19 11q22.1-22.3(chr11:98515900-104970876)x1	ANGPTL5, ARHGAP42 +29 more	Copy number loss	See cases	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 441837	GRCh37/hg19 11q14.2-22.3(chr11:88152458-109414650)x1	AASDHPPT, ACAT1 +95 more	Copy number loss	See cases	GPathogenic
Select item 394835	GRCh37/hg19 11q22.3(chr11:104874006-104916026)x1	CARD16, CASP1 +1 more	Copy number loss	See cases	GLikely benign

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Items: 48