"PARD3-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3056597	NM_001184785.2(PARD3):c.*4C>T	PARD3	Single nucleotide variant (3 prime UTR variant)	PARD3-related disorder	GBenign
Select item 2640400	NM_001184785.2(PARD3):c.3819C>T (p.Asn1273=)	PARD3	Single nucleotide variant (synonymous variant)	PARD3-related disorder +1 more	GLikely benign
Select item 769779	NM_001184785.2(PARD3):c.3756G>A (p.Glu1252=)	PARD3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3052539	NM_001184785.2(PARD3):c.3699C>T (p.Ser1233=)	PARD3	Single nucleotide variant (synonymous variant)	PARD3-related disorder	GLikely benign
Select item 3055935	NM_001184785.2(PARD3):c.3573A>G (p.Arg1191=)	PARD3	Single nucleotide variant (synonymous variant)	PARD3-related disorder	GBenign
Select item 3039204	NM_001184785.2(PARD3):c.3560C>T (p.Thr1187Met)	PARD3 (T1078M +7 more)	Single nucleotide variant (missense variant)	PARD3-related disorder	GBenign
Select item 3052525	NM_001184785.2(PARD3):c.3543G>A (p.Pro1181=)	PARD3	Single nucleotide variant (synonymous variant)	PARD3-related disorder	GLikely benign
Select item 3035501	NM_001184785.2(PARD3):c.3537C>G (p.Pro1179=)	PARD3	Single nucleotide variant (synonymous variant)	PARD3-related disorder	GLikely benign
Select item 3035306	NM_001184785.2(PARD3):c.3419+8C>T	PARD3	Single nucleotide variant (intron variant)	PARD3-related disorder	GLikely benign
Select item 3055871	NM_001184785.2(PARD3):c.3289G>A (p.Gly1097Arg)	PARD3 (G1010R +7 more)	Single nucleotide variant (missense variant)	PARD3-related disorder	GBenign
Select item 3040888	NM_001184785.2(PARD3):c.3196G>C (p.Glu1066Gln)	PARD3 (E1023Q +7 more)	Single nucleotide variant (missense variant)	PARD3-related disorder	GLikely benign
Select item 3041276	NM_001184785.2(PARD3):c.2976T>C (p.Thr992=)	PARD3	Single nucleotide variant (synonymous variant)	PARD3-related disorder	GBenign
Select item 3058215	NM_001184785.2(PARD3):c.2961A>G (p.Arg987=)	PARD3	Single nucleotide variant (synonymous variant)	PARD3-related disorder	GLikely benign
Select item 3053572	NM_001184785.2(PARD3):c.2942A>G (p.Lys981Arg)	PARD3 (K894R +6 more)	Single nucleotide variant (missense variant)	PARD3-related disorder	GLikely benign
Select item 3053733	NM_001184785.2(PARD3):c.2868G>A (p.Gly956=)	PARD3	Single nucleotide variant (synonymous variant)	PARD3-related disorder	GLikely benign
Select item 3041037	NM_001184785.2(PARD3):c.2838A>G (p.Glu946=)	PARD3	Single nucleotide variant (synonymous variant)	PARD3-related disorder	GLikely benign
Select item 778036	NM_001184785.2(PARD3):c.2801C>T (p.Ala934Val)	PARD3 (A847V +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3040185	NM_001184785.2(PARD3):c.2778C>T (p.Ile926=)	PARD3	Single nucleotide variant (synonymous variant)	PARD3-related disorder	GLikely benign
Select item 3053763	NM_001184785.2(PARD3):c.2730G>A (p.Pro910=)	PARD3	Single nucleotide variant (synonymous variant)	PARD3-related disorder	GLikely benign
Select item 3060980	NM_001184785.2(PARD3):c.2658G>A (p.Ser886=)	PARD3	Single nucleotide variant (synonymous variant)	PARD3-related disorder	GBenign
Select item 716988	NM_001184785.2(PARD3):c.2560+10A>G	PARD3	Single nucleotide variant (intron variant)	PARD3-related disorder +1 more	GBenign
Select item 3050779	NM_001184785.2(PARD3):c.2358G>A (p.Thr786=)	PARD3	Single nucleotide variant (synonymous variant)	PARD3-related disorder	GLikely benign
Select item 3046156	NM_001184785.2(PARD3):c.2265T>A (p.Thr755=)	PARD3	Single nucleotide variant (synonymous variant)	PARD3-related disorder	GBenign
Select item 3038450	NM_001184785.2(PARD3):c.2068-7T>C	PARD3	Single nucleotide variant (intron variant)	PARD3-related disorder	GLikely benign
Select item 3038178	NM_001184785.2(PARD3):c.1749C>G (p.Thr583=)	PARD3	Single nucleotide variant (synonymous variant)	PARD3-related disorder	GBenign
Select item 3042497	NM_001184785.2(PARD3):c.1354A>G (p.Asn452Asp)	PARD3 (N408D +1 more)	Single nucleotide variant (missense variant)	PARD3-related disorder	GLikely benign
Select item 3053131	NM_001184785.2(PARD3):c.1251T>C (p.Ser417=)	PARD3	Single nucleotide variant (synonymous variant)	PARD3-related disorder	GLikely benign
Select item 3041373	NM_001184785.2(PARD3):c.1244T>C (p.Ile415Thr)	PARD3 (I371T +1 more)	Single nucleotide variant (missense variant)	PARD3-related disorder	GLikely benign
Select item 2640401	NM_001184785.2(PARD3):c.875G>C (p.Ser292Thr)	PARD3 (S248T +1 more)	Single nucleotide variant (missense variant)	PARD3-related disorder +1 more	GLikely benign
Select item 3043050	NM_001184785.2(PARD3):c.715-4C>T	PARD3	Single nucleotide variant (intron variant)	PARD3-related disorder	GLikely benign
Select item 3033124	NM_001184785.2(PARD3):c.573C>T (p.Cys191=)	PARD3	Single nucleotide variant (synonymous variant)	PARD3-related disorder	GLikely benign
Select item 2640403	NM_001184785.2(PARD3):c.339C>G (p.Val113=)	PARD3	Single nucleotide variant (synonymous variant)	PARD3-related disorder +1 more	GLikely benign
Select item 709694	NM_001184785.2(PARD3):c.321G>C (p.Glu107Asp)	PARD3 (E107D)	Single nucleotide variant (missense variant)	PARD3-related disorder +1 more	GBenign
Select item 3047985	NM_001184785.2(PARD3):c.279C>A (p.Ala93=)	PARD3	Single nucleotide variant (synonymous variant)	PARD3-related disorder	GLikely benign
Select item 714451	NM_001184785.2(PARD3):c.258C>T (p.His86=)	PARD3	Single nucleotide variant (synonymous variant)	PARD3-related disorder +1 more	GBenign
Select item 3046478	NM_001184785.2(PARD3):c.120+10_120+33del	PARD3	Deletion (intron variant)	PARD3-related disorder	GLikely benign

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Items: 36