ClinVar for MedGen (Select 7418) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1679870	NM_006537.4(USP3):c.941T>G (p.Phe314Cys)	USP3 (F270C +1 more)	Single nucleotide variant (missense variant +1 more)	Neutropenia +1 more	GUncertain significance
Select item 1679869	NM_001161403.3(LIMS2):c.802+1G>A	LIMS2	Single nucleotide variant (splice donor variant)	Neutropenia +1 more	GUncertain significance
Select item 1679868	NM_007183.4(PKP3):c.118C>T (p.Arg40Trp)	PKP3 (R40W +1 more)	Single nucleotide variant (missense variant)	Neutropenia +1 more	GUncertain significance
Select item 1679867	NM_001136018.4(EPHX1):c.1004C>T (p.Thr335Met)	EPHX1, TMEM63A (T146M +4 more)	Single nucleotide variant (missense variant +1 more)	Neutropenia +1 more	GBenign
Select item 1679866	NM_004284.6(CHD1L):c.1954G>A (p.Ala652Thr)	CHD1L (A371T +7 more)	Single nucleotide variant (missense variant +1 more)	Neutropenia +1 more	GLikely benign
Select item 1679865	NM_005462.5(MAGEC1):c.2T>C (p.Met1Thr)	LOC126863334, MAGEC1 (M1T)	Single nucleotide variant (missense variant +1 more)	Neutropenia +1 more	GLikely benign
Select item 1679864	NM_001109659.2(C16orf92):c.128G>A (p.Arg43Lys)	C16orf92 (R43K +1 more)	Single nucleotide variant (missense variant)	Neutropenia +1 more	GLikely benign
Select item 1679863	NM_015117.3(ZC3H3):c.1203G>C (p.Lys401Asn)	ZC3H3 (K401N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1679862	NM_015117.3(ZC3H3):c.1646C>T (p.Ser549Leu)	ZC3H3 (S549L)	Single nucleotide variant (missense variant)	Neutropenia +1 more	GLikely benign
Select item 1679861	NM_003260.5(TLE2):c.946G>A (p.Gly316Arg)	TLE2 (G194R +3 more)	Single nucleotide variant (missense variant)	Neutropenia +1 more	GLikely benign
Select item 1679860	NM_003260.5(TLE2):c.2114G>A (p.Ser705Asn)	TLE2 (S583N +2 more)	Single nucleotide variant (missense variant +1 more)	Neutropenia +1 more	GLikely benign
Select item 1679859	NM_001401501.2(MUC16):c.27739T>C (p.Ser9247Pro)	MUC16 (S9207P +2 more)	Single nucleotide variant (missense variant)	Neutropenia +1 more	GLikely benign
Select item 1679858	NM_001710.6(CFB):c.1942A>T (p.Lys648Ter)	CFB (K648*)	Single nucleotide variant (nonsense)	Neutropenia +1 more	GLikely benign
Select item 1043778	NM_004523.4(KIF11):c.3053A>G (p.His1018Arg)	KIF11 (H1018R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 932519	NM_006468.8(POLR3C):c.251G>A (p.Arg84Gln)	POLR3C (R84Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 726756	NM_004523.4(KIF11):c.77+5G>C	KIF11	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 718379	NM_001183.6(ATP6AP1):c.539G>A (p.Arg180His)	ATP6AP1 (R180H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 703138	NM_152274.5(CCNQ):c.338G>A (p.Arg113His)	CCNQ (R113H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 598999	NM_001199397.3(NEK1):c.859C>G (p.Pro287Ala)	NEK1 (P287A)	Single nucleotide variant (non-coding transcript variant +1 more)	Cor triatriatum dexter +7 more	GConflicting classifications of pathogenicity
Select item 464885	NM_002872.5(RAC2):c.184G>A (p.Glu62Lys)	RAC2 (E62K)	Single nucleotide variant (missense variant)	Abnormal cellular immune system morphology +10 more	GPathogenic/Likely pathogenic
Select item 464099	NM_000215.4(JAK3):c.2452G>A (p.Glu818Lys)	JAK3 (E818K)	Single nucleotide variant (missense variant)	Non-immune hydrops fetalis +6 more	GUncertain significance
Select item 266046	NM_001199397.3(NEK1):c.1021G>A (p.Ala341Thr)	NEK1 (A341T)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly +9 more	GConflicting classifications of pathogenicity
Select item 252613	NM_003052.5(SLC34A1):c.284G>A (p.Arg95His)	SLC34A1 (R95H)	Single nucleotide variant (missense variant)	SLC34A1-related condition +3 more	GBenign/Likely benign
Select item 42901	NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr)	LOC126861898, MYH7 (A797T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +19 more	GPathogenic/Likely pathogenic
Select item 7949	NM_000261.2(MYOC):c.1102C>T (p.Gln368Ter)	MYOC (Q368*)	Single nucleotide variant (nonsense)	Glaucoma of childhood	GPathogenic FDA Recognized database

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 25