"GeneDx"[submitter] AND "LOC130067016"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59232	GRCh38/hg38 22q11.21(chr22:20363880-21073647)x1	LOC132090638, LOC132090918 +62 more	Copy number loss	See cases	GPathogenic
Select item 59234	GRCh38/hg38 22q11.21(chr22:20379137-21151128)x1	AIFM3, CRKL +61 more	Copy number loss	See cases	GPathogenic
Select item 58214	GRCh38/hg38 22q11.21-11.22(chr22:20668552-22358488)x3	AIFM3, CCDC116 +123 more	Copy number gain	See cases	GPathogenic
Select item 145120	GRCh38/hg38 22q11.21(chr22:20711594-21583391)x1	AIFM3, CRKL +52 more	Copy number loss	See cases	GPathogenic
Select item 928479	NM_006767.4(LZTR1):c.-6C>T	LZTR1, LOC130067016	Single nucleotide variant (5 prime UTR variant)	Noonan syndrome and Noonan-related syndrome +2 more	GBenign
Select item 561803	NM_006767.4(LZTR1):c.-4C>T	LZTR1, LOC130067016	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 372684	NM_006767.4(LZTR1):c.27dup (p.Gln10fs)	LZTR1, LOC130067016 (Q10fs)	Duplication (frameshift variant)	Noonan syndrome 2 +4 more	GPathogenic/Likely pathogenic
Select item 143931	NM_006767.4(LZTR1):c.27del (p.Gln10fs)	LOC130067016, LZTR1 (Q10fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +5 more	GPathogenic
Select item 1496147	NM_006767.4(LZTR1):c.22G>C (p.Gly8Arg)	LOC130067016, LZTR1 (G8R)	Single nucleotide variant (missense variant)	Noonan syndrome 10 +4 more	GUncertain significance
Select item 933179	NM_006767.4(LZTR1):c.23G>C (p.Gly8Ala)	LOC130067016, LZTR1 (G8A)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1192247	NM_006767.4(LZTR1):c.26G>T (p.Gly9Val)	LOC130067016, LZTR1 (G9V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 522164	NM_006767.4(LZTR1):c.26G>C (p.Gly9Ala)	LOC130067016, LZTR1 (G9A)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 452228	NM_006767.4(LZTR1):c.59C>T (p.Ala20Val)	LOC130067016, LZTR1 (A20V)	Single nucleotide variant (missense variant)	Schwannomatosis 2 +4 more	GUncertain significance
Select item 1761995	NM_006767.4(LZTR1):c.80G>A (p.Ser27Asn)	LOC130067016, LZTR1 (S27N)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 704250	NM_006767.4(LZTR1):c.96T>C (p.His32=)	LOC130067016, LZTR1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 3375822	NM_006767.4(LZTR1):c.104C>A (p.Ser35Ter)	LOC130067016, LZTR1 (S35*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1307218	NM_006767.4(LZTR1):c.118T>C (p.Tyr40His)	LOC130067016, LZTR1 (Y40H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance