BCAS4[gene] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 58973	GRCh38/hg38 20q13.13-13.2(chr20:49731076-51202566)x1	ADNP, ADNP-AS1 +124 more	Copy number loss	See cases	GPathogenic
Select item 59219	GRCh38/hg38 20q13.13-13.2(chr20:49947237-55875406)x3	ADNP, ADNP-AS1 +199 more	Copy number gain	See cases	GPathogenic
Select item 148193	GRCh38/hg38 20q13.13-13.2(chr20:49989123-51495645)x1	ADNP, ADNP-AS1 +102 more	Copy number loss	See cases	GLikely pathogenic
Select item 3235944	GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	ABHD16B, ADNP +635 more	Copy number gain	20q13.13qter duplication	GPathogenic
Select item 148190	GRCh38/hg38 20q13.13-13.2(chr20:50781990-52792847)x1	ADNP, ADNP-AS1 +63 more	Copy number loss	See cases	GPathogenic
Select item 2542220	NM_017843.4(BCAS4):c.7C>G (p.Arg3Gly)	BCAS4, LOC130066146 (R3G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260607	NM_017843.4(BCAS4):c.34G>A (p.Gly12Arg)	BCAS4, LOC130066146 (G12R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260608	NM_198799.4(BCAS4):c.-6C>T	BCAS4, LOC130066146 (L29F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266272	NM_198799.4(BCAS4):c.13G>A (p.Asp5Asn)	BCAS4, LOC130066146 (D5N +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 799459	NM_198799.4(BCAS4):c.27G>A (p.Pro9=)	BCAS4, LOC130066146	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2622709	NM_198799.4(BCAS4):c.43G>A (p.Gly15Arg)	BCAS4, LOC130066146 (G15R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260609	NM_198799.4(BCAS4):c.74C>G (p.Pro25Arg)	BCAS4, LOC130066146 (P25R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 748265	NM_198799.4(BCAS4):c.75C>T (p.Pro25=)	BCAS4, LOC130066146	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3133337	NM_198799.4(BCAS4):c.85G>T (p.Ala29Ser)	BCAS4, LOC130066146 (A59S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133338	NM_198799.4(BCAS4):c.92C>T (p.Ala31Val)	BCAS4 (A61V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 779192	NM_198799.4(BCAS4):c.163-3C>T	BCAS4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2477848	NM_198799.4(BCAS4):c.167G>A (p.Arg56Lys)	BCAS4 (R86K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208389	NM_198799.4(BCAS4):c.213G>C (p.Lys71Asn)	BCAS4 (K71N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260606	NM_198799.4(BCAS4):c.230T>C (p.Met77Thr)	BCAS4 (M77T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321599	NM_198799.4(BCAS4):c.287A>G (p.His96Arg)	BCAS4 (H126R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392051	NM_198799.4(BCAS4):c.301C>G (p.Leu101Val)	BCAS4 (L101V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323859	NM_198799.4(BCAS4):c.320A>G (p.Gln107Arg)	BCAS4 (Q107R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 713432	NM_198799.4(BCAS4):c.388T>A (p.Ser130Thr)	BCAS4 (S160T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 713433	NM_198799.4(BCAS4):c.389C>A (p.Ser130Tyr)	BCAS4 (S160Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2652397	NM_198799.4(BCAS4):c.400-418C>A	BCAS4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2524278	NM_198799.4(BCAS4):c.405A>G (p.Ser135=)	BCAS4 (T198A)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3133339	NM_198799.4(BCAS4):c.421G>A (p.Val141Met)	BCAS4 (R203H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781500	NM_198799.4(BCAS4):c.425C>T (p.Thr142Met)	BCAS4 (T127M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GLikely benign
Select item 1456498	NC_000020.10:g.(?_49354394)_(49626875_?)del	ADNP, BCAS4 +4 more	Deletion	not provided	GPathogenic
Select item 816129	GRCh37/hg19 20q13.13(chr20:49150754-49443848)x3	PTPN1, PARD6B +2 more	Copy number gain	not provided	GLikely benign
Select item 564608	GRCh37/hg19 20q13.13(chr20:49447090-49510400)x1	ADNP, BCAS4	Copy number loss	not provided	GLikely pathogenic
Select item 560064	Single allele	ADNP, ARFGEF2 +27 more	Duplication	not provided	GUncertain significance
Select item 443773	GRCh37/hg19 20q13.13-13.2(chr20:47627844-52045480)x1	ADNP, ARFGEF2 +28 more	Copy number loss	See cases	GPathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 442502	GRCh37/hg19 20q13.13-13.2(chr20:47726521-50427649)x1	SPATA2, STAU1 +24 more	Copy number loss	See cases	GLikely pathogenic
Select item 187826	GRCh37/hg19 20q13.13-13.2(chr20:47682662-49884981)x1	KCNG1, SPATA2 +22 more	Copy number loss	See cases	GLikely pathogenic

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Items: 39