ClinVar for MedGen (Select 7418) - ClinVar

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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)	not provided	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)	not provided	GLikely benign
Select item 1679861	NM_003260.5(TLE2):c.946G>A (p.Gly316Arg)	TLE2 (G194R +3 more)	Single nucleotide variant (missense variant)	not provided	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)	not provided	GLikely benign
Select item 1679859	NM_001401501.2(MUC16):c.27739T>C (p.Ser9247Pro)	MUC16 (S9207P +2 more)	Single nucleotide variant (missense variant)	not provided	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)	Inborn genetic diseases +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 specified +1 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 (missense variant +1 more)	Lymphopenia +6 more	GConflicting classifications of pathogenicity
Select item 464885	NM_002872.5(RAC2):c.184G>A (p.Glu62Lys)	RAC2 (E62K)	Single nucleotide variant (missense variant)	Neutrophil immunodeficiency syndrome +10 more	GPathogenic/Likely pathogenic
Select item 464099	NM_000215.4(JAK3):c.2452G>A (p.Glu818Lys)	JAK3 (E818K)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency +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)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 252613	NM_003052.5(SLC34A1):c.284G>A (p.Arg95His)	SLC34A1 (R95H)	Single nucleotide variant (missense variant)	not provided +2 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 +18 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

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Items: 25