24821[HGNC] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3153374	NM_001017368.2(RFFL):c.1017G>C (p.Lys339Asn)	RAD51L3-RFFL, RFFL (K339N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2332079	NM_001017368.2(RFFL):c.939G>T (p.Glu313Asp)	RAD51L3-RFFL, RFFL (E313D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3313863	NM_001017368.2(RFFL):c.922C>T (p.Pro308Ser)	RAD51L3-RFFL, RFFL (P308S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3313862	NM_001017368.2(RFFL):c.838G>C (p.Glu280Gln)	RAD51L3-RFFL, RFFL (E280Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2275677	NM_001017368.2(RFFL):c.766C>T (p.Arg256Trp)	RAD51L3-RFFL, RFFL (R256W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2482353	NM_001017368.2(RFFL):c.731T>G (p.Leu244Arg)	RAD51L3-RFFL, RFFL (L244R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3153379	NM_001017368.2(RFFL):c.710G>A (p.Arg237Gln)	RAD51L3-RFFL, RFFL (R237Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3153378	NM_001017368.2(RFFL):c.641G>A (p.Ser214Asn)	RAD51L3-RFFL, RFFL (S214N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391398	NM_001017368.2(RFFL):c.602A>G (p.His201Arg)	RAD51L3-RFFL, RFFL (H201R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342156	NM_001017368.2(RFFL):c.596A>G (p.Asn199Ser)	RAD51L3-RFFL, RFFL (N199S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234212	NM_001017368.2(RFFL):c.569C>T (p.Ala190Val)	RAD51L3-RFFL, RFFL (A190V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 736128	NM_001017368.2(RFFL):c.566C>A (p.Pro189Gln)	RAD51L3-RFFL, RFFL (P189Q)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3153377	NM_001017368.2(RFFL):c.466C>A (p.Pro156Thr)	RAD51L3-RFFL, RFFL (P156T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 713381	NM_001017368.2(RFFL):c.440G>A (p.Arg147His)	RAD51L3-RFFL, RFFL (R147H)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3313864	NM_001017368.2(RFFL):c.436A>G (p.Thr146Ala)	RAD51L3-RFFL, RFFL (T146A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389324	NM_001017368.2(RFFL):c.371G>A (p.Arg124Gln)	RAD51L3-RFFL, RFFL (R124Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515031	NM_001017368.2(RFFL):c.283G>T (p.Ala95Ser)	RAD51L3-RFFL, RFFL (A95S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376097	NM_001017368.2(RFFL):c.275G>A (p.Arg92Gln)	RAD51L3-RFFL, RFFL (R92Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153376	NM_001017368.2(RFFL):c.232G>A (p.Val78Ile)	RAD51L3-RFFL, RFFL (V78I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465645	NM_001017368.2(RFFL):c.207T>A (p.Asn69Lys)	RAD51L3-RFFL, RFFL (N69K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340288	NM_001017368.2(RFFL):c.175A>G (p.Arg59Gly)	RAD51L3-RFFL, RFFL (R59G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607794	NM_001017368.2(RFFL):c.134C>A (p.Pro45Gln)	RAD51L3-RFFL, RFFL (P45Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153375	NM_001017368.2(RFFL):c.125G>A (p.Gly42Asp)	RAD51L3-RFFL, RFFL (G42D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3243216	NC_000017.10:g.(?_32908096)_(33513578_?)dup	CCT6B, FNDC8 +7 more	Duplication	not provided	GUncertain significance
Select item 3063495	GRCh37/hg19 17q12(chr17:33316754-33890206)x1	FNDC8, LIG3 +11 more	Copy number loss	not specified	GUncertain significance
Select item 2574697	GRCh37/hg19 17q11.2-12(chr17:30572862-35843988)	AATF, ACACA +66 more	Copy number loss	Chromosome 17q12 deletion syndrome	GPathogenic
Select item 1340475	GRCh37/hg19 17q12(chr17:33312303-33365515)x1	LIG3, RFFL	Copy number loss	not provided	GUncertain significance
Select item 815928	GRCh37/hg19 17q12(chr17:33073917-33863479)x1	CCT6B, FNDC8 +12 more	Copy number loss	not provided	GUncertain significance
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 635886	Single allele	ASIC2, CCL1 +16 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 564430	GRCh37/hg19 17q12(chr17:32654402-33353332)x3	CCL1, CCL13 +6 more	Copy number gain	not provided	GUncertain significance
Select item 564429	GRCh37/hg19 17q12(chr17:32351496-34455576)x1	AP2B1, ASIC2 +40 more	Copy number loss	not provided	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic

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Items: 34