"GeneDx"[submitter] AND "RNF14"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 1244949	NM_016580.4(PCDH12):c.2979-195_2979-192del	PCDH12, RNF14	Deletion (intron variant)	not provided	GBenign
Select item 1283413	NM_016580.4(PCDH12):c.2978+104G>A	PCDH12, RNF14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1686681	NM_016580.4(PCDH12):c.2534C>T (p.Thr845Met)	PCDH12, RNF14 (T845M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 440889	NM_016580.4(PCDH12):c.2515C>T (p.Arg839Ter)	PCDH12, RNF14 (R839*)	Single nucleotide variant (nonsense)	Diencephalic-mesencephalic junction dysplasia syndrome 1 +1 more	GPathogenic
Select item 1167840	NM_016580.4(PCDH12):c.2496G>A (p.Gln832=)	PCDH12, RNF14	Single nucleotide variant (synonymous variant)	Diencephalic-mesencephalic junction dysplasia syndrome 1 +1 more	GBenign
Select item 1304586	NM_016580.4(PCDH12):c.2326C>T (p.His776Tyr)	PCDH12, RNF14 (H776Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1168158	NM_016580.4(PCDH12):c.2176T>C (p.Leu726=)	PCDH12, RNF14	Single nucleotide variant (synonymous variant)	Diencephalic-mesencephalic junction dysplasia syndrome 1 +1 more	GBenign
Select item 1168159	NM_016580.4(PCDH12):c.2133C>T (p.Ala711=)	PCDH12, RNF14	Single nucleotide variant (synonymous variant)	Diencephalic-mesencephalic junction dysplasia syndrome 1 +1 more	GBenign
Select item 1878726	NM_016580.4(PCDH12):c.1972G>A (p.Val658Ile)	PCDH12, RNF14 (V658I)	Single nucleotide variant (missense variant)	Diencephalic-mesencephalic junction dysplasia syndrome 1 +1 more	GUncertain significance
Select item 1168160	NM_016580.4(PCDH12):c.1919G>A (p.Ser640Asn)	PCDH12, RNF14 (S640N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2443508	NM_016580.4(PCDH12):c.1235T>C (p.Leu412Ser)	PCDH12, RNF14 (L412S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 512678	NM_016580.4(PCDH12):c.1153C>A (p.His385Asn)	PCDH12, RNF14 (H385N)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 620173	NM_016580.4(PCDH12):c.922C>T (p.Arg308Ter)	PCDH12, RNF14 (R308*)	Single nucleotide variant (nonsense)	Diencephalic-mesencephalic junction dysplasia syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 1335600	NM_016580.4(PCDH12):c.827A>G (p.Asn276Ser)	PCDH12, RNF14 (N276S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 817069	NM_016580.4(PCDH12):c.669dup (p.Lys224fs)	PCDH12, RNF14 (K224fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1168161	NM_016580.4(PCDH12):c.291G>A (p.Leu97=)	PCDH12, RNF14	Single nucleotide variant (synonymous variant)	Diencephalic-mesencephalic junction dysplasia syndrome 1 +1 more	GBenign
Select item 1604321	NM_016580.4(PCDH12):c.251G>C (p.Gly84Ala)	PCDH12, RNF14 (G84A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1168162	NM_016580.4(PCDH12):c.192T>C (p.Ala64=)	PCDH12, RNF14	Single nucleotide variant (synonymous variant)	Diencephalic-mesencephalic junction dysplasia syndrome 1 +1 more	GBenign
Select item 1263863	NC_000005.10:g.141959001C>G	PCDH12, RNF14	Single nucleotide variant	not provided	GBenign
Select item 1294900	NC_000005.10:g.141959206A>G	PCDH12, RNF14	Single nucleotide variant	not provided	GBenign
Select item 1287449	NC_000005.10:g.141959262G>A	PCDH12, RNF14	Single nucleotide variant	not provided	GBenign

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Items: 22