"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "SPTBN4" - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2912792	NM_020971.3(SPTBN4):c.71G>A (p.Arg24His)	SPTBN4 (R24H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 770657	NM_020971.3(SPTBN4):c.116C>T (p.Ala39Val)	SPTBN4 (A39V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 730357	NM_020971.3(SPTBN4):c.348G>A (p.Arg116=)	SPTBN4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2077813	NM_020971.3(SPTBN4):c.931A>T (p.Ile311Leu)	SPTBN4 (I311L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 769455	NM_020971.3(SPTBN4):c.1665+6G>T	SPTBN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 768991	NM_020971.3(SPTBN4):c.1665+8C>G	SPTBN4	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness +1 more	GBenign
Select item 771519	NM_020971.3(SPTBN4):c.2031CGCAGCGGG[3] (p.675AAG[4])	SPTBN4	Microsatellite (inframe_insertion)	not provided	GBenign/Likely benign
Select item 734101	NM_020971.3(SPTBN4):c.2190T>C (p.Gly730=)	SPTBN4	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 773356	NM_020971.3(SPTBN4):c.2193C>A (p.Ala731=)	SPTBN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 722234	NM_020971.3(SPTBN4):c.2193C>T (p.Ala731=)	SPTBN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 714786	NM_020971.3(SPTBN4):c.2215G>A (p.Val739Met)	SPTBN4 (V739M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 737291	NM_020971.3(SPTBN4):c.2321C>T (p.Ala774Val)	SPTBN4 (A774V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 714787	NM_020971.3(SPTBN4):c.2853C>T (p.Gly951=)	SPTBN4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 729454	NM_020971.3(SPTBN4):c.3174G>A (p.Arg1058=)	SPTBN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2057859	NM_020971.3(SPTBN4):c.3577G>A (p.Glu1193Lys)	SPTBN4 (E1193K)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 752254	NM_020971.3(SPTBN4):c.3654+9T>G	SPTBN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 781881	NM_020971.3(SPTBN4):c.3710C>A (p.Ala1237Asp)	SPTBN4 (A1237D)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1806026	NM_020971.3(SPTBN4):c.4862T>A (p.Phe1621Tyr)	SPTBN4 (F1621Y +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 754474	NM_020971.3(SPTBN4):c.4975C>T (p.Leu1659=)	SPTBN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 768992	NM_020971.3(SPTBN4):c.5421G>A (p.Glu1807=)	SPTBN4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1114114	NM_020971.3(SPTBN4):c.5588C>G (p.Pro1863Arg)	SPTBN4 (P1863R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 730240	NM_020971.3(SPTBN4):c.5747G>A (p.Arg1916Gln)	SPTBN4 (R592Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 768993	NM_020971.3(SPTBN4):c.6171G>A (p.Ala2057=)	SPTBN4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2912793	NM_020971.3(SPTBN4):c.6374C>T (p.Pro2125Leu)	SPTBN4 (P2120L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 731683	NM_020971.3(SPTBN4):c.6528G>C (p.Val2176=)	SPTBN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 742881	NM_020971.3(SPTBN4):c.6609G>A (p.Glu2203=)	SPTBN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1110891	NM_020971.3(SPTBN4):c.7022C>T (p.Ala2341Val)	SPTBN4 (A2341V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 737292	NM_020971.3(SPTBN4):c.7089C>T (p.Pro2363=)	LOC130064467, SPTBN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 733896	NM_020971.3(SPTBN4):c.7320-8C>T	SPTBN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 788619	NM_020971.3(SPTBN4):c.7391C>G (p.Ala2464Gly)	SPTBN4 (A2464G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 716479	NM_020971.3(SPTBN4):c.7437G>C (p.Lys2479Asn)	SPTBN4 (K2479N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2425787	NC_000019.9:g.(?_40882496)_(41135455_?)dup	BLVRB, HIPK4 +7 more	Duplication	not provided	GUncertain significance
Select item 2423350	NC_000019.9:g.(?_39904727)_(42931301_?)dup	ACTMAP, AKT2 +84 more	Duplication	MEGF8-related Carpenter syndrome +3 more	GUncertain significance

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Items: 33