BFAR[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	LOC130058340, LOC130058341 +925 more	Copy number gain	See cases	GPathogenic
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +851 more	Copy number gain	See cases	GPathogenic
Select item 148522	GRCh38/hg38 16p13.13-13.11(chr16:11952467-15186199)x1	BFAR, CPPED1 +113 more	Copy number loss	See cases	GLikely pathogenic
Select item 58701	GRCh38/hg38 16p13.13-13.11(chr16:11967831-15162888)x1	BFAR, CPPED1 +110 more	Copy number loss	See cases	GPathogenic
Select item 148416	GRCh38/hg38 16p13.12(chr16:14140498-14686337)x3	BFAR, LINC02130 +27 more	Copy number gain	See cases	GLikely benign
Select item 57619	GRCh38/hg38 16p13.12-12.3(chr16:14609647-18765817)x3	ABCC1, ABCC6 +101 more	Copy number gain	See cases	GUncertain significance
Select item 57620	GRCh38/hg38 16p13.12-13.11(chr16:14639096-16431491)x3	ABCC1, ABCC6 +58 more	Copy number gain	See cases	GUncertain significance
Select item 2588798	NM_016561.3(BFAR):c.70G>A (p.Gly24Ser)	BFAR (G24S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2267750	NM_016561.3(BFAR):c.134C>T (p.Thr45Ile)	BFAR (T45I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232493	NM_016561.3(BFAR):c.164G>A (p.Arg55His)	BFAR (R55H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270194	NM_016561.3(BFAR):c.194C>T (p.Ser65Leu)	BFAR (S65L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327613	NM_016561.3(BFAR):c.373G>C (p.Asp125His)	BFAR (D125H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2313873	NM_016561.3(BFAR):c.382C>T (p.Pro128Ser)	BFAR (P128S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2537014	NM_016561.3(BFAR):c.391C>G (p.Pro131Ala)	BFAR (P131A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2266912	NM_016561.3(BFAR):c.628G>C (p.Val210Leu)	BFAR (V210L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2264955	NM_016561.3(BFAR):c.733C>T (p.Arg245Cys)	BFAR (R120C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 776979	NM_016561.3(BFAR):c.734G>A (p.Arg245His)	BFAR (R120H +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2600311	NM_016561.3(BFAR):c.736G>A (p.Val246Ile)	BFAR (V121I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491908	NM_016561.3(BFAR):c.758C>A (p.Pro253His)	BFAR (P128H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594999	NM_016561.3(BFAR):c.776A>G (p.Glu259Gly)	BFAR (E259G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319338	NM_016561.3(BFAR):c.815T>C (p.Leu272Pro)	BFAR (L147P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2203859	NM_016561.3(BFAR):c.870C>G (p.Asp290Glu)	BFAR (D165E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335889	NM_016561.3(BFAR):c.985T>C (p.Trp329Arg)	BFAR (W204R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391138	NM_016561.3(BFAR):c.1010C>G (p.Ser337Cys)	BFAR (S212C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286628	NM_016561.3(BFAR):c.1143G>T (p.Trp381Cys)	BFAR (W256C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608001	NM_016561.3(BFAR):c.1145C>T (p.Ser382Leu)	BFAR (S257L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 57622	GRCh38/hg38 16p13.12-13.11(chr16:14668382-16100721)x3	ABCC1, BFAR +45 more	Copy number gain	See cases	GUncertain significance
Select item 2684789	GRCh37/hg19 16p13.12(chr16:14423662-14777432)x3	BFAR, PARN +1 more	Copy number gain	not provided	GUncertain significance
Select item 2502283	GRCh37/hg19 16p13.12-13.11(chr16:14643928-14725823)x1	BFAR, NPIPA3 +3 more	Copy number loss	Dyskeratosis congenita, autosomal recessive 6	Gnot provided
Select item 1808599	GRCh37/hg19 16p13.12-12.3(chr16:14365745-17052798)x3	ABCC1, ABCC6 +20 more	Copy number gain	not provided	GLikely pathogenic
Select item 1807793	GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3	ABAT, ABCC1 +226 more	Copy number gain	not provided	GPathogenic
Select item 983281	GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3	ABAT, ABCC1 +252 more	Copy number gain	See cases	GPathogenic
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	GPathogenic
Select item 564277	GRCh37/hg19 16p13.12(chr16:14405427-14765202)x3	BFAR, PARN	Copy number gain	not provided	GUncertain significance
Select item 564274	GRCh37/hg19 16p13.13-13.12(chr16:12007434-14781381)x1	BFAR, CPPED1 +10 more	Copy number loss	not provided	GUncertain significance
Select item 547111	GRCh37/hg19 16p13.12(chr16:14464480-14762298)x3	BFAR, PARN	Copy number gain	not provided	GLikely benign
Select item 443183	GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3	ABAT, ABCA3 +295 more	Copy number gain	See cases	GPathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	AGRP, AHSP +590 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	JPT2, KARS1 +810 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	ADAD2, ADAMTS18 +810 more	Copy number gain	See cases	GPathogenic
Select item 442872	GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3	ABAT, ABCA3 +263 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	KCTD13, KCTD19 +810 more	Copy number gain	See cases	GPathogenic
Select item 375693	maternal UPD(16p)	ITGAM, NPIPA3 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 221511	GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3	AMDHD2, ANKS3 +202 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 219021	GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3	ABAT, ABCA3 +330 more	Copy number gain	See cases	GPathogenic

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Items: 46