ClinVar for Gene (Select 84224) - ClinVar

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Links from Gene

Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3179880	NM_032264.6(NBPF3):c.814C>T (p.His272Tyr)	NBPF3 (H272Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3179876	NM_032264.6(NBPF3):c.724T>C (p.Tyr242His)	NBPF3 (Y172H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3179873	NM_032264.6(NBPF3):c.658C>G (p.Pro220Ala)	NBPF3 (P220A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3179868	NM_032264.6(NBPF3):c.647A>C (p.Gln216Pro)	NBPF3 (Q160P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3179865	NM_032264.6(NBPF3):c.629T>C (p.Leu210Pro)	NBPF3 (L154P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3179851	NM_032264.6(NBPF3):c.568G>A (p.Asp190Asn)	NBPF3 (D190N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3179838	NM_032264.6(NBPF3):c.527C>G (p.Ser176Cys)	NBPF3 (S120C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3179822	NM_032264.6(NBPF3):c.279C>A (p.Asn93Lys)	NBPF3 (N93K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3179815	NM_032264.6(NBPF3):c.1420C>T (p.Pro474Ser)	NBPF3 (P418S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063455	GRCh37/hg19 1p36.12(chr1:21722949-22021145)x3	ALPL, NBPF3 +2 more	Copy number gain	not specified	GUncertain significance
Select item 2685031	GRCh37/hg19 1p36.13-36.12(chr1:17291707-23016395)x4	ACTL8, AKR7A2 +65 more	Copy number gain	not provided	GLikely pathogenic
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC129929105, LOC129929106 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2638447	NM_032264.6(NBPF3):c.951T>C (p.Ser317=)	NBPF3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2600575	NM_032264.6(NBPF3):c.1519C>G (p.Pro507Ala)	NBPF3 (P437A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537833	NM_032264.6(NBPF3):c.584C>T (p.Ser195Phe)	NBPF3 (S125F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528778	NM_032264.6(NBPF3):c.107G>T (p.Arg36Leu)	NBPF3 (R36L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2510361	NM_032264.6(NBPF3):c.566C>T (p.Pro189Leu)	NBPF3 (P133L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454343	NM_032264.6(NBPF3):c.410A>G (p.Lys137Arg)	NBPF3 (K67R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2424757	NC_000001.10:g.(?_19199339)_(22987879_?)dup	KIF17, LDLRAD2 +49 more	Duplication	Congenital disorder of glycosylation type Ir +2 more	GUncertain significance
Select item 2422561	NC_000001.10:g.(?_19199339)_(24690861_?)dup	AKR7A2, AKR7A3 +77 more	Duplication	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
Select item 2404525	NM_032264.6(NBPF3):c.592C>T (p.Arg198Trp)	NBPF3 (R128W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388855	NM_032264.6(NBPF3):c.841G>A (p.Gly281Arg)	NBPF3 (G225R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2373617	NM_032264.6(NBPF3):c.1807G>A (p.Val603Ile)	NBPF3 (V510I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2364201	NM_032264.6(NBPF3):c.530G>A (p.Arg177His)	NBPF3 (R107H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361988	NM_032264.6(NBPF3):c.1859G>A (p.Arg620Lys)	NBPF3 (R527K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348380	NM_032264.6(NBPF3):c.1246G>T (p.Val416Phe)	NBPF3 (V323F +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342704	NM_032264.6(NBPF3):c.1582G>A (p.Val528Ile)	NBPF3 (V472I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2325336	NM_032264.6(NBPF3):c.390G>C (p.Glu130Asp)	NBPF3 (E74D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276243	NM_032264.6(NBPF3):c.121C>G (p.Arg41Gly)	NBPF3 (R41G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2227652	NM_032264.6(NBPF3):c.1150A>T (p.Ile384Leu)	NBPF3 (I384L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2225118	NM_032264.6(NBPF3):c.283A>G (p.Lys95Glu)	NBPF3 (K39E +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2220595	NM_032264.6(NBPF3):c.228C>G (p.Ile76Met)	NBPF3 (I76M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2209031	NM_032264.6(NBPF3):c.307G>A (p.Val103Met)	NBPF3 (V103M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1228381	GRCh37/hg19 1p36.13-36.12(chr1:16785250-23491592)x1	FAM43B, HP1BP3 +77 more	Copy number loss	1p36.1 deletion syndrome	GPathogenic
Select item 981885	NM_032264.6(NBPF3):c.2T>C (p.Met1Thr)	NBPF3 (M1T)	Single nucleotide variant (missense variant +3 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 980391	GRCh37/hg19 1p36.13-36.12(chr1:17284906-21778495)x1	AKR7A3, AKR7L +51 more	Copy number loss	not provided	GPathogenic
Select item 789914	NM_032264.6(NBPF3):c.1386G>T (p.Met462Ile)	NBPF3 (M450I +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 789913	NM_032264.6(NBPF3):c.734+5C>T	NBPF3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 221359	chr1:17555508-24706269 complex variant	ACTL8, AKR7A2 +88 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 221334	Single allele	C1orf159, C1orf167 +314 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 149011	GRCh38/hg38 1p36.12(chr1:21399130-22696747)x1	ALPL, C1QA +60 more	Copy number loss	See cases	GUncertain significance
Select item 59918	GRCh38/hg38 1p36.13-36.12(chr1:18347821-22512894)x1	EMC1-AS1, FAM43B +221 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 45