ClinVar for MedGen (Select 1615973) - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3256111	NM_016580.4(PCDH12):c.2675del (p.Gly892fs)	PCDH12, RNF14 (G892fs)	Deletion (frameshift variant)	Diencephalic-mesencephalic junction dysplasia syndrome 1	GLikely pathogenic
Select item 2690666	NM_016580.4(PCDH12):c.1082C>G (p.Ser361Ter)	PCDH12, RNF14 (S361*)	Single nucleotide variant (nonsense)	Diencephalic-mesencephalic junction dysplasia syndrome 1	GLikely pathogenic
Select item 2434599	NM_016580.4(PCDH12):c.3043G>A (p.Glu1015Lys)	PCDH12, RNF14 (E1015K)	Single nucleotide variant (missense variant)	Diencephalic-mesencephalic junction dysplasia syndrome 1	GUncertain significance
Select item 2434597	NM_016580.4(PCDH12):c.3419C>T (p.Ser1140Leu)	PCDH12 (S1140L)	Single nucleotide variant (missense variant)	Diencephalic-mesencephalic junction dysplasia syndrome 1	GUncertain significance
Select item 2148455	NM_016580.4(PCDH12):c.3404C>T (p.Ala1135Val)	PCDH12 (A1135V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
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 1805761	NM_016580.4(PCDH12):c.2374G>A (p.Gly792Arg)	PCDH12, RNF14 (G792R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1804020	NM_016580.4(PCDH12):c.311G>A (p.Cys104Tyr)	PCDH12, RNF14 (C104Y)	Single nucleotide variant (missense variant)	Diencephalic-mesencephalic junction dysplasia syndrome 1	GLikely pathogenic
Select item 1679306	NM_016580.4(PCDH12):c.207dup (p.Gln70fs)	PCDH12, RNF14 (Q70fs)	Duplication (frameshift variant)	Diencephalic-mesencephalic junction dysplasia syndrome 1	GLikely pathogenic
Select item 1656563	NM_016580.4(PCDH12):c.2051C>A (p.Pro684His)	PCDH12, RNF14 (P684H)	Single nucleotide variant (missense variant)	Diencephalic-mesencephalic junction dysplasia syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 1441567	NM_016580.4(PCDH12):c.1758C>T (p.Gly586=)	PCDH12, RNF14	Single nucleotide variant (synonymous variant)	Diencephalic-mesencephalic junction dysplasia syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 1343191	NM_016580.4(PCDH12):c.643A>C (p.Thr215Pro)	PCDH12, RNF14 (T215P)	Single nucleotide variant (missense variant)	Diencephalic-mesencephalic junction dysplasia syndrome 1	GLikely pathogenic
Select item 1342872	NM_016580.4(PCDH12):c.451C>T (p.Arg151Ter)	PCDH12, RNF14 (R151*)	Single nucleotide variant (nonsense)	Diencephalic-mesencephalic junction dysplasia syndrome 1 +2 more	GPathogenic
Select item 1323420	NM_016580.4(PCDH12):c.2563C>T (p.Gln855Ter)	PCDH12, RNF14 (Q855*)	Single nucleotide variant (nonsense)	Diencephalic-mesencephalic junction dysplasia syndrome 1	GPathogenic
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 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 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 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 1168157	NM_016580.4(PCDH12):c.3252A>G (p.Pro1084=)	PCDH12	Single nucleotide variant (synonymous variant)	Diencephalic-mesencephalic junction dysplasia syndrome 1 +1 more	GBenign
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 1065612	NM_016580.4(PCDH12):c.2433C>A (p.Cys811Ter)	PCDH12, RNF14 (C811*)	Single nucleotide variant (nonsense)	Diencephalic-mesencephalic junction dysplasia syndrome 1	GPathogenic
Select item 1030566	NM_016580.4(PCDH12):c.3370C>T (p.Arg1124Cys)	PCDH12 (R1124C)	Single nucleotide variant (missense variant)	Diencephalic-mesencephalic junction dysplasia syndrome 1 +2 more	GUncertain significance
Select item 1030565	NM_016580.4(PCDH12):c.3146G>A (p.Arg1049Gln)	PCDH12 (R1049Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1030564	NM_016580.4(PCDH12):c.1951C>G (p.Pro651Ala)	PCDH12, RNF14 (P651A)	Single nucleotide variant (missense variant)	Diencephalic-mesencephalic junction dysplasia syndrome 1	GUncertain significance
Select item 1030563	NM_016580.4(PCDH12):c.1408C>T (p.Arg470Trp)	PCDH12, RNF14 (R470W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1030562	NM_016580.4(PCDH12):c.115G>T (p.Glu39Ter)	PCDH12, RNF14 (E39*)	Single nucleotide variant (nonsense)	Diencephalic-mesencephalic junction dysplasia syndrome 1	GLikely pathogenic
Select item 996904	NM_016580.4(PCDH12):c.152A>G (p.Gln51Arg)	PCDH12, RNF14 (Q51R)	Single nucleotide variant (missense variant)	Diencephalic-mesencephalic junction dysplasia syndrome 1 +1 more	GConflicting classifications of pathogenicity
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 816886	NM_016580.4(PCDH12):c.3445G>T (p.Asp1149Tyr)	PCDH12 (D1149Y)	Single nucleotide variant (missense variant)	Diencephalic-mesencephalic junction dysplasia syndrome 1	GUncertain significance
Select item 768040	NM_016580.4(PCDH12):c.3528CAG[9] (p.Ser1179_Ser1181dup)	PCDH12	Microsatellite (inframe_insertion)	not provided +1 more	GBenign
Select item 694061	PCDH12, ARG151TER	PCDH12	Single nucleotide variant	Diencephalic-mesencephalic junction dysplasia syndrome 1	GPathogenic
Select item 684719	NM_016580.4(PCDH12):c.2765_2766del (p.Pro922fs)	PCDH12, RNF14 (P922fs)	Deletion (frameshift variant)	Diencephalic-mesencephalic junction dysplasia	GUncertain significance
Select item 684718	NM_016580.4(PCDH12):c.2511del (p.Ser838fs)	PCDH12, RNF14 (S838fs)	Deletion (frameshift variant)	Diencephalic-mesencephalic junction dysplasia syndrome 1 +1 more	GPathogenic
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 587639	NM_016580.4(PCDH12):c.2734C>T (p.Arg912Trp)	PCDH12, RNF14 (R912W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 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

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Items: 37