Related gene-specific medical variations for Gene (Select 117583) - ClinVar

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Links from Gene

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2689653	NM_001302769.2(PARD3B):c.1222G>A (p.Gly408Ser)	PARD3B (G408S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689651	NM_001302769.2(PARD3B):c.608C>A (p.Thr203Lys)	PARD3B (T203K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1809222	GRCh37/hg19 2q33.3(chr2:205519999-205638704)x1	PARD3B	Copy number loss	not provided	GUncertain significance
Select item 1808985	GRCh37/hg19 2q33.3(chr2:205519961-205638704)x1	PARD3B	Copy number loss	not provided	GUncertain significance
Select item 994311	NM_001302769.2(PARD3B):c.3042C>T (p.Asp1014=)	PARD3B	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 688069	GRCh37/hg19 2q33.2-33.3(chr2:204858354-205794074)x1	PARD3B	Copy number loss	not provided	GUncertain significance
Select item 686218	GRCh37/hg19 2q33.3(chr2:205519998-205638704)x1	PARD3B	Copy number loss	not provided	GUncertain significance
Select item 686215	GRCh37/hg19 2q33.3(chr2:205519998-205638704)x1	PARD3B	Copy number loss	not provided	GUncertain significance
Select item 545255	NC_000002.12:g.(?_205264941)_(205497509_?)del	PARD3B	Deletion	Schizophrenia	GLikely pathogenic
Select item 545254	NC_000002.12:g.(?_205102232)_(205198713_?)del	PARD3B	Deletion	Schizophrenia	GLikely pathogenic