"GeneDx"[submitter] AND "KITLG"[gene] - ClinVar

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

Search results

Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2419488	NM_000899.5(KITLG):c.806_807del (p.Glu269fs)	KITLG (E241fs +1 more)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 1211693	NM_000899.5(KITLG):c.783-41T>A	KITLG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2504286	NM_000899.5(KITLG):c.715-2A>G	KITLG	Single nucleotide variant (splice acceptor variant)	Autosomal dominant nonsyndromic hearing loss 69 +1 more	GConflicting classifications of pathogenicity
Select item 1284148	NM_000899.5(KITLG):c.715-91C>A	KITLG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201062	NM_000899.5(KITLG):c.714+24T>A	KITLG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1325962	NM_000899.5(KITLG):c.680T>C (p.Ile227Thr)	KITLG (I199T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372863	NM_000899.5(KITLG):c.647C>A (p.Ala216Glu)	KITLG (A188E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1325956	NM_000899.5(KITLG):c.629A>G (p.Asp210Gly)	KITLG (D182G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 508156	NM_000899.5(KITLG):c.628G>T (p.Asp210Tyr)	KITLG (D210Y +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 1194205	NM_000899.5(KITLG):c.604+133T>G	KITLG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3368718	NM_000899.5(KITLG):c.566C>A (p.Ala189Glu)	KITLG (A189E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1436578	NM_000899.5(KITLG):c.509G>A (p.Ser170Asn)	KITLG (S170N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1221324	NM_000899.5(KITLG):c.364-40G>A	KITLG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268326	NM_000899.5(KITLG):c.364-203C>A	KITLG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237595	NM_000899.5(KITLG):c.363+16T>A	KITLG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 546160	NM_000899.5(KITLG):c.343G>A (p.Val115Met)	KITLG (V115M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1320528	NM_000899.5(KITLG):c.281G>C (p.Gly94Ala)	KITLG (G94A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 666626	NM_000899.5(KITLG):c.213C>T (p.Ser71=)	KITLG	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1316563	NM_000899.5(KITLG):c.193-44A>G	KITLG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1266538	NM_000899.5(KITLG):c.192+245A>G	KITLG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289822	NM_000899.5(KITLG):c.192+146G>A	KITLG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 452867	NM_000899.5(KITLG):c.178G>A (p.Gly60Arg)	KITLG (G60R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 508598	NM_000899.5(KITLG):c.177C>T (p.Pro59=)	KITLG	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 726999	NM_000899.5(KITLG):c.160A>G (p.Thr54Ala)	KITLG (T54A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 682989	NM_000899.5(KITLG):c.130-10G>T	KITLG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 517646	NM_000899.5(KITLG):c.130-11dup	KITLG	Duplication (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 1272999	NM_000899.5(KITLG):c.130-11del	KITLG	Deletion (intron variant)	not provided	GBenign
Select item 1242709	NM_000899.5(KITLG):c.130-22A>T	KITLG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230735	NM_000899.5(KITLG):c.129+22G>A	KITLG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1214956	NM_000899.5(KITLG):c.129+21C>T	KITLG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195125	NM_000899.5(KITLG):c.121A>C (p.Thr41Pro)	KITLG (T41P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 379240	NM_000899.5(KITLG):c.108T>A (p.Asn36Lys)	KITLG (N36K)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2502550	NM_000899.5(KITLG):c.67G>A (p.Val23Ile)	KITLG (V23I)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2582079	NM_000899.5(KITLG):c.63T>A (p.Pro21=)	KITLG	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1316082	NM_000899.5(KITLG):c.58A>T (p.Asn20Tyr)	KITLG (N20Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253013	NM_000899.5(KITLG):c.34A>G (p.Ile12Val)	KITLG (I12V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1185703	NM_000899.5(KITLG):c.16-119T>A	KITLG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1258930	NM_000899.5(KITLG):c.16-137G>A	KITLG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1321471	NM_000899.5(KITLG):c.16-138C>A	KITLG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1272782	NM_000899.5(KITLG):c.16-148A>G	KITLG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1195743	NM_000899.5(KITLG):c.15+279C>A	KITLG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1318832	NM_000899.5(KITLG):c.9G>A (p.Lys3=)	KITLG	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 513634	NM_000899.5(KITLG):c.-16A>C	KITLG	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 1230363	NC_000012.12:g.88580488C>A	KITLG	Single nucleotide variant	not provided	GBenign
Select item 3360465	NM_000899.5(KITLG):c.734C>T (p.Thr245Ile)	KITLG (T217I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360374	NM_000899.5(KITLG):c.715-21_715-12delinsGTGTAAAATAATGTC	KITLG	Indel (intron variant)	not provided	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 46