NBPF6[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146007	GRCh38/hg38 1p21.3-13.3(chr1:97272349-108893138)x1	AGL, AKNAD1 +195 more	Copy number loss	See cases	GPathogenic
Select item 60005	GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1	AGL, AHCYL1 +333 more	Copy number loss	See cases	GPathogenic
Select item 60007	GRCh38/hg38 1p21.2-13.2(chr1:101618097-111703028)x1	ELAPOR1, EPS8L3 +276 more	Copy number loss	See cases	GPathogenic
Select item 545138	NC_000001.11:g.(?_103175204)_(111410059_?)del	AHCYL1, AKNAD1 +242 more	Deletion	Autism	GLikely pathogenic
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LINC01780, LINC02868 +563 more	Copy number gain	See cases	GPathogenic
Select item 154693	GRCh38/hg38 1p21.1-13.2(chr1:105468292-112190626)x1	ADORA3, AHCYL1 +274 more	Copy number loss	See cases	GPathogenic
Select item 60009	GRCh38/hg38 1p21.1-13.3(chr1:106074587-110144290)x1	AHCYL1, AKNAD1 +148 more	Copy number loss	See cases	GPathogenic
Select item 145716	GRCh38/hg38 1p13.3(chr1:108246465-108425912)x3	NBPF4, NBPF6	Copy number gain	See cases	GBenign
Select item 144799	GRCh38/hg38 1p13.3(chr1:108268404-108425912)x3	NBPF4, NBPF6	Copy number gain	See cases	GBenign/Likely benign
Select item 2373257	NM_001143988.2(NBPF6):c.31G>A (p.Glu11Lys)	NBPF6 (E11K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348144	NM_001143988.2(NBPF6):c.64C>G (p.Gln22Glu)	NBPF6 (Q22E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2454202	NM_001143988.2(NBPF6):c.73C>T (p.Arg25Cys)	NBPF6 (R25C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3298661	NM_001143988.2(NBPF6):c.74G>A (p.Arg25His)	NBPF6 (R25H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348563	NM_001143988.2(NBPF6):c.89A>C (p.Glu30Ala)	NBPF6 (E30A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410758	NM_001143988.2(NBPF6):c.133A>T (p.Thr45Ser)	NBPF6 (T45S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2615379	NM_001143988.2(NBPF6):c.235A>G (p.Met79Val)	NBPF6 (M79V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266251	NM_001143988.2(NBPF6):c.1436C>T (p.Ala479Val)	NBPF6 (A479V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380898	NM_001143988.2(NBPF6):c.1481G>A (p.Arg494Gln)	NBPF6 (R494Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511338	NM_001143988.2(NBPF6):c.1495A>G (p.Ile499Val)	NBPF6 (I528V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2378003	NM_001143988.2(NBPF6):c.1523C>T (p.Thr508Ile)	NBPF6 (T537I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407457	NM_001143988.2(NBPF6):c.1538G>C (p.Cys513Ser)	NBPF6 (C542S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457499	NM_001143988.2(NBPF6):c.1591C>T (p.Arg531Trp)	NBPF6 (R560W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179934	NM_001143988.2(NBPF6):c.1696C>T (p.Pro566Ser)	NBPF6 (P595S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330734	NM_001143988.2(NBPF6):c.1740C>A (p.Asn580Lys)	NBPF6 (N580K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222298	NM_001143988.2(NBPF6):c.1771C>T (p.Arg591Cys)	NBPF6 (R591C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388403	NM_001143988.2(NBPF6):c.1772G>A (p.Arg591His)	NBPF6 (R591H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2621013	NM_001143988.2(NBPF6):c.1797G>C (p.Lys599Asn)	NBPF6 (K599N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179958	NM_001143988.2(NBPF6):c.1849G>T (p.Ala617Ser)	NBPF6 (A617S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544125	NM_001143988.2(NBPF6):c.1861G>A (p.Ala621Thr)	NBPF6 (A621T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220837	NM_001143988.2(NBPF6):c.1892A>G (p.Glu631Gly)	NBPF6 (E631G +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2460812	NM_001143988.2(NBPF6):c.1896G>T (p.Arg632Ser)	NBPF6 (R632S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219974	NM_001143988.2(NBPF6):c.1896G>C (p.Arg632Ser)	NBPF6 (R632S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298660	NM_001143988.2(NBPF6):c.1907T>A (p.Met636Lys)	NBPF6 (M636K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225153	NM_001143988.2(NBPF6):c.1910T>C (p.Ile637Thr)	NBPF6 (I637T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424031	NC_000001.10:g.(?_108679275)_(111674176_?)del	AHCYL1, AKNAD1 +52 more	Deletion	Hereditary spastic paraplegia 63 +1 more	GPathogenic
Select item 2423587	NC_000001.10:g.(?_108679275)_(109493059_?)del	AKNAD1, CLCC1 +9 more	Deletion	not provided	GUncertain significance
Select item 1527171	GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931)	ADORA3, AGL +124 more	Copy number loss	not specified	GPathogenic
Select item 1340040	GRCh37/hg19 1p13.3(chr1:108346477-110177123)x1	AKNAD1, AMIGO1 +30 more	Copy number loss	not provided	GUncertain significance
Select item 1047871	GRCh37/hg19 1p21.2-12(chr1:102021465-119737478)	ATP1A1, RAP1A +131 more	Copy number loss	Seizure +1 more	GPathogenic
Select item 979271	GRCh37/hg19 1p13.3(chr1:108769288-109425488)x3	AKNAD1, EEIG2 +7 more	Copy number gain	not provided	GUncertain significance
Select item 684474	Single allele	AHCYL1, AKNAD1 +47 more	Deletion	not provided	Gnot provided
Select item 635280	Single allele	KCNC4, LAMTOR5 +50 more	Deletion	1p13.3 deletion syndrome	GLikely pathogenic
Select item 443336	GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3	ABCA4, ABCD3 +177 more	Copy number gain	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 45