RUNDC1[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 2401944	NM_173079.5(RUNDC1):c.17C>T (p.Ala6Val)	RUNDC1 (A6V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297297	NM_173079.5(RUNDC1):c.35C>T (p.Thr12Met)	RUNDC1 (T12M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647808	NM_173079.5(RUNDC1):c.51T>C (p.Val17=)	RUNDC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2320726	NM_173079.5(RUNDC1):c.69C>A (p.Asp23Glu)	LOC130060932, RUNDC1 (D23E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315793	NM_173079.5(RUNDC1):c.115C>A (p.Arg39Ser)	LOC130060932, RUNDC1 (R39S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647809	NM_173079.5(RUNDC1):c.141G>A (p.Ala47=)	LOC130060932, RUNDC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3157182	NM_173079.5(RUNDC1):c.152C>T (p.Pro51Leu)	LOC130060932, RUNDC1 (P51L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545922	NM_173079.5(RUNDC1):c.215C>T (p.Pro72Leu)	LOC130060932, RUNDC1 (P72L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406862	NM_173079.5(RUNDC1):c.233G>A (p.Arg78Gln)	LOC130060932, RUNDC1 (R78Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256929	NM_173079.5(RUNDC1):c.316T>C (p.Phe106Leu)	RUNDC1 (F106L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315791	NM_173079.5(RUNDC1):c.479G>T (p.Trp160Leu)	RUNDC1 (W160L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599109	NM_173079.5(RUNDC1):c.505C>G (p.Gln169Glu)	RUNDC1 (Q169E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157184	NM_173079.5(RUNDC1):c.517G>A (p.Glu173Lys)	RUNDC1 (E173K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486564	NM_173079.5(RUNDC1):c.556A>C (p.Ile186Leu)	RUNDC1 (I188L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367897	NM_173079.5(RUNDC1):c.569A>C (p.Lys190Thr)	RUNDC1 (K192T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475801	NM_173079.5(RUNDC1):c.656G>A (p.Arg219Gln)	RUNDC1 (R219Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533234	NM_173079.5(RUNDC1):c.743G>A (p.Arg248His)	RUNDC1 (R250H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157185	NM_173079.5(RUNDC1):c.826G>C (p.Asp276His)	RUNDC1 (D278H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157186	NM_173079.5(RUNDC1):c.847T>G (p.Phe283Val)	RUNDC1 (F283V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344785	NM_173079.5(RUNDC1):c.862G>A (p.Val288Met)	RUNDC1 (V290M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 219337	NM_173079.5(RUNDC1):c.866G>C (p.Gly289Ala)	RUNDC1 (G289A +1 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 2617839	NM_173079.5(RUNDC1):c.892C>T (p.His298Tyr)	RUNDC1 (H298Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510004	NM_173079.5(RUNDC1):c.956C>T (p.Thr319Met)	RUNDC1 (T319M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647810	NM_173079.5(RUNDC1):c.957G>A (p.Thr319=)	RUNDC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2321816	NM_173079.5(RUNDC1):c.982G>A (p.Ala328Thr)	RUNDC1 (A329T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157179	NM_173079.5(RUNDC1):c.1010C>T (p.Thr337Met)	RUNDC1 (T338M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315795	NM_173079.5(RUNDC1):c.1025T>A (p.Met342Lys)	RUNDC1 (M342K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209516	NM_173079.5(RUNDC1):c.1028G>A (p.Arg343Gln)	RUNDC1 (R344Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318636	NM_173079.5(RUNDC1):c.1042G>A (p.Val348Met)	RUNDC1 (V349M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157180	NM_173079.5(RUNDC1):c.1133A>G (p.Tyr378Cys)	RUNDC1 (Y379C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157181	NM_173079.5(RUNDC1):c.1186G>A (p.Ala396Thr)	RUNDC1 (A396T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315792	NM_173079.5(RUNDC1):c.1279C>T (p.Arg427Trp)	RUNDC1 (R428W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340640	NM_173079.5(RUNDC1):c.1409T>C (p.Met470Thr)	RUNDC1 (M472T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466406	NM_173079.5(RUNDC1):c.1434G>C (p.Lys478Asn)	RUNDC1 (K478N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545921	NM_173079.5(RUNDC1):c.1480C>T (p.Arg494Trp)	RUNDC1 (R494W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305222	NM_173079.5(RUNDC1):c.1514C>T (p.Thr505Met)	RUNDC1 (T505M +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3157183	NM_173079.5(RUNDC1):c.1597A>G (p.Ser533Gly)	RUNDC1 (S535G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286552	NM_173079.5(RUNDC1):c.1684G>A (p.Gly562Arg)	RUNDC1 (G563R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315794	NM_173079.5(RUNDC1):c.1801C>G (p.Leu601Val)	RUNDC1 (L603V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305129	NM_173079.5(RUNDC1):c.1810C>T (p.Arg604Cys)	RUNDC1 (R605C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 2423446	NC_000017.10:g.(?_41052894)_(41154937_?)dup	AARSD1, G6PC1 +4 more	Duplication	not provided	GUncertain significance
Select item 1809350	GRCh37/hg19 17q21.31(chr17:41105913-41307101)x3	AARSD1, BRCA1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic

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Items: 48