CYBRD1[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154177	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	ABCB11, ACVR1 +530 more	Copy number gain	See cases	GPathogenic
Select item 60248	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	KLHL23, KLHL41 +488 more	Copy number loss	See cases	GPathogenic
Select item 60249	GRCh38/hg38 2q24.3-31.1(chr2:164066038-172097886)x1	LOC129935070, LOC129935071 +162 more	Copy number loss	See cases	GPathogenic
Select item 57491	GRCh38/hg38 2q24.3-31.1(chr2:164850117-175559190)x1	ABCB11, ATF2 +269 more	Copy number loss	See cases	GPathogenic
Select item 60253	GRCh38/hg38 2q31.1-32.1(chr2:170407688-186189894)x1	AGPS, ATF2 +411 more	Copy number loss	See cases	GPathogenic
Select item 58765	GRCh38/hg38 2q31.1(chr2:170444219-172050237)x1	LOC129935084, LOC129935085 +54 more	Copy number loss	See cases	GPathogenic
Select item 147692	GRCh38/hg38 2q31.1-32.2(chr2:171429233-189179568)x1	AGPS, ATF2 +417 more	Copy number loss	See cases	GPathogenic
Select item 150849	GRCh38/hg38 2q31.1-31.2(chr2:171513047-177854080)x1	AGPS, ATF2 +214 more	Copy number loss	See cases	GPathogenic
Select item 2382543	NM_024843.4(CYBRD1):c.16T>C (p.Tyr6His)	CYBRD1 (Y6H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3039228	NM_024843.4(CYBRD1):c.44C>T (p.Ser15Leu)	CYBRD1, LOC129935103 (S15L)	Single nucleotide variant (missense variant +1 more)	CYBRD1-related condition	GLikely benign
Select item 2410689	NM_024843.4(CYBRD1):c.103C>G (p.Arg35Gly)	CYBRD1, LOC129935103 (R35G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517898	NM_024843.4(CYBRD1):c.173T>G (p.Phe58Cys)	CYBRD1 (F58C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284997	NM_024843.4(CYBRD1):c.175G>A (p.Val59Ile)	CYBRD1 (V59I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461006	NM_024843.4(CYBRD1):c.178T>C (p.Phe60Leu)	CYBRD1 (F60L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079295	NM_024843.4(CYBRD1):c.278C>T (p.Ala93Val)	CYBRD1 (A93V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220941	NM_024843.4(CYBRD1):c.286C>T (p.Leu96Phe)	CYBRD1 (L38F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079296	NM_024843.4(CYBRD1):c.292A>G (p.Ile98Val)	CYBRD1 (I98V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407172	NM_024843.4(CYBRD1):c.343A>G (p.Asn115Asp)	CYBRD1 (N115D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530941	NM_024843.4(CYBRD1):c.368T>C (p.Val123Ala)	CYBRD1 (V65A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079297	NM_024843.4(CYBRD1):c.444G>A (p.Pro148=)	CYBRD1 (A79T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2353963	NM_024843.4(CYBRD1):c.527T>C (p.Met176Thr)	CYBRD1 (M176T +1 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2516729	NM_024843.4(CYBRD1):c.528G>A (p.Met176Ile)	CYBRD1 (G107R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079298	NM_024843.4(CYBRD1):c.584C>T (p.Pro195Leu)	CYBRD1 (P195L +1 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2252098	NM_024843.4(CYBRD1):c.638C>A (p.Ala213Asp)	CYBRD1 (A155D +1 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 3079299	NM_024843.4(CYBRD1):c.666G>A (p.Pro222=)	CYBRD1 (A153T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 1237711	NM_024843.4(CYBRD1):c.797G>A (p.Ser266Asn)	CYBRD1 (S208N +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 3079301	NM_024843.4(CYBRD1):c.848G>A (p.Arg283Lys)	CYBRD1 (R283K +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3062617	GRCh37/hg19 2q24.2-31.1(chr2:162692199-174452488)x1	ABCB11, B3GALT1 +57 more	Copy number loss	not specified	GPathogenic
Select item 2424739	NC_000002.11:g.(?_171675102)_(174232392_?)dup	CDCA7, CYBRD1 +15 more	Duplication	not provided	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1695396	Single allele	AGPS, ATF2 +47 more	Deletion	Split hand-foot malformation 5	GPathogenic
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 1339653	GRCh37/hg19 2q24.2-31.1(chr2:160347642-174075851)x1	ABCB11, B3GALT1 +67 more	Copy number loss	2q24 microdeletion syndrome	GPathogenic
Select item 1047877	GRCh37/hg19 2q31.1-31.3(chr2:171999572-182774361)	CYBRD1, DCAF17 +60 more	Copy number loss	3-4 finger syndactyly +1 more	GPathogenic
Select item 1010962	NC_000002.11:g.(?_172291068)_(172750744_?)dup	CYBRD1, DCAF17 +3 more	Duplication	not provided	GUncertain significance
Select item 981210	GRCh37/hg19 2q24.2-31.3(chr2:163078055-182119617)x1	ABCB11, AGPS +97 more	Copy number loss	2q24 microdeletion syndrome	GPathogenic
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 687517	GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1	ABCB11, AGPS +125 more	Copy number loss	not provided	GPathogenic
Select item 562670	GRCh37/hg19 2q31.1(chr2:171667051-176832848)x3	ATF2, ATP5MC3 +27 more	Copy number gain	not provided	GPathogenic
Select item 559503	GRCh37/hg19 2q31.1(chr2:172344870-173038935)x4	SLC25A12, DLX1 +5 more	Copy number gain	Isolated Pierre-Robin syndrome +3 more	GUncertain significance
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	DCAF17, DCDC2C +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	AAK1, AAMP +1214 more	Copy number gain	See cases	GPathogenic
Select item 253638	GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3	ABCB11, ACVR1 +129 more	Copy number gain	See cases	GPathogenic
Select item 221426	GRCh37/hg19 2q31.1(chr2:172379152-172803266)x3	CYBRD1, DYNC1I2 +2 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 44