"PreventionGenetics, part of Exact Sciences"[submitter] AND "CLCN4"[ge - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 695408	NM_001830.4(CLCN4):c.145-4C>A	CLCN4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 696913	NM_001830.4(CLCN4):c.363C>G (p.Thr121=)	CLCN4	Single nucleotide variant (synonymous variant)	CLCN4-related disorder +1 more	GLikely benign
Select item 2629204	NM_001830.4(CLCN4):c.775G>T (p.Ala259Ser)	CLCN4 (A165S +1 more)	Single nucleotide variant (missense variant)	CLCN4-related disorder	GUncertain significance
Select item 2629663	NM_001830.4(CLCN4):c.935G>T (p.Gly312Val)	CLCN4 (G218V +1 more)	Single nucleotide variant (missense variant)	CLCN4-related disorder	GUncertain significance
Select item 700937	NM_001830.4(CLCN4):c.948C>T (p.Leu316=)	CLCN4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 415738	NM_001830.4(CLCN4):c.1390-4C>T	CLCN4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2632589	NM_001830.4(CLCN4):c.1492A>G (p.Ile498Val)	CLCN4 (I404V +1 more)	Single nucleotide variant (missense variant)	CLCN4-related disorder	GUncertain significance
Select item 696345	NM_001830.4(CLCN4):c.1548C>T (p.Tyr516=)	CLCN4	Single nucleotide variant (synonymous variant)	CLCN4-related disorder +1 more	GBenign/Likely benign
Select item 415735	NM_001830.4(CLCN4):c.1551A>C (p.Ala517=)	CLCN4	Single nucleotide variant (synonymous variant)	CLCN4-related disorder +1 more	GLikely benign
Select item 697367	NM_001830.4(CLCN4):c.1576+5G>A	CLCN4	Single nucleotide variant (intron variant)	CLCN4-related disorder +1 more	GBenign/Likely benign
Select item 745455	NM_001830.4(CLCN4):c.1576+9A>T	CLCN4	Single nucleotide variant (intron variant)	CLCN4-related disorder +1 more	GLikely benign
Select item 3037259	NM_001830.4(CLCN4):c.1606G>C (p.Val536Leu)	CLCN4 (V442L +1 more)	Single nucleotide variant (missense variant)	CLCN4-related disorder	GUncertain significance
Select item 772623	NM_001830.4(CLCN4):c.1980C>T (p.Asn660=)	CLCN4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 696562	NM_001830.4(CLCN4):c.2030C>T (p.Thr677Met)	CLCN4 (T677M +1 more)	Single nucleotide variant (missense variant)	CLCN4-related disorder +2 more	GBenign/Likely benign
Select item 697014	NM_001830.4(CLCN4):c.2031G>A (p.Thr677=)	CLCN4	Single nucleotide variant (synonymous variant)	CLCN4-related disorder +1 more	GBenign/Likely benign
Select item 964595	NM_001830.4(CLCN4):c.2167C>T (p.Arg723Trp)	CLCN4 (R629W +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity