"GeneDx"[submitter] AND "LOC111811967"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 58802	GRCh38/hg38 19q13.33(chr19:50076580-50354608)x3	IZUMO2, KCNC3 +31 more	Copy number gain	See cases	GUncertain significance
Select item 1520362	NM_004977.3(KCNC3):c.116AGC[6] (p.Gln41_Gln42dup)	KCNC3, LOC111811967	Microsatellite (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 284725	NM_004977.3(KCNC3):c.123G>T (p.Gln41His)	KCNC3, LOC111811967 (Q41H)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2430859	NM_004977.3(KCNC3):c.118C>T (p.Gln40Ter)	KCNC3, LOC111811967 (Q40*)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2444559	NM_004977.3(KCNC3):c.46dup (p.Ala16fs)	KCNC3, LOC111811967 (A16fs)	Duplication (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1801886	NM_004977.3(KCNC3):c.40C>T (p.Gln14Ter)	KCNC3, LOC111811967 (Q14*)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 488936	NM_004977.3(KCNC3):c.11C>G (p.Ser4Ter)	KCNC3, LOC111811967 (S4*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1697993	NM_004977.3(KCNC3):c.-94G>T	KCNC3, LOC111811967	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign