Related gene-specific medical variations for Gene (Select 9611) - ClinVar

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Links from Gene

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3350035	NM_006311.4(NCOR1):c.6798_6800del (p.Ile2267del)	NCOR1, TTC19 (I2164del +1 more)	Deletion (inframe_deletion)	NCOR1-related disorder	GUncertain significance
Select item 3298901	NM_006311.4(NCOR1):c.6976C>A (p.Leu2326Met)	NCOR1, TTC19 (L2223M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184619	NM_006311.4(NCOR1):c.7040C>T (p.Thr2347Met)	NCOR1, TTC19 (T2244M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184614	NM_006311.4(NCOR1):c.6957A>G (p.Gly2319=)	NCOR1, TTC19	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3184607	NM_006311.4(NCOR1):c.6934G>A (p.Gly2312Arg)	NCOR1, TTC19 (G2312R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184597	NM_006311.4(NCOR1):c.6736T>G (p.Ser2246Ala)	NCOR1, TTC19 (S2246A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2672166	NM_006311.4(NCOR1):c.6332A>C (p.His2111Pro)	NCOR1 (H2008P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2633641	NM_006311.4(NCOR1):c.6728C>T (p.Thr2243Met)	NCOR1, TTC19 (T2140M +1 more)	Single nucleotide variant (missense variant)	NCOR1-related disorder	GUncertain significance
Select item 2610718	NM_006311.4(NCOR1):c.7202T>C (p.Ile2401Thr)	NCOR1, TTC19 (I2401T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495258	NM_006311.4(NCOR1):c.6817G>A (p.Gly2273Arg)	NCOR1, TTC19 (G2170R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356539	NM_006311.4(NCOR1):c.6773C>G (p.Ala2258Gly)	NCOR1, TTC19 (A2258G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306699	NM_006311.4(NCOR1):c.6939C>A (p.Asp2313Glu)	NCOR1, TTC19 (D2313E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302325	NM_006311.4(NCOR1):c.7027G>C (p.Gly2343Arg)	NCOR1, TTC19 (G2240R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242519	NM_006311.4(NCOR1):c.7166C>T (p.Thr2389Ile)	NCOR1, TTC19 (T2286I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236275	NM_006311.4(NCOR1):c.6833A>G (p.Lys2278Arg)	NCOR1, TTC19 (K2175R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1679748	NM_006311.4(NCOR1):c.4681C>T (p.Arg1561Trp)	NCOR1 (R1561W +1 more)	Single nucleotide variant (missense variant)	NCOR1-related autism spectrum disorder	GUncertain significance
Select item 1213805	NM_006311.4(NCOR1):c.3761T>C (p.Ile1254Thr)	NCOR1 (I1254T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 978139	NM_006311.4(NCOR1):c.5627G>C (p.Arg1876Thr)	NCOR1 (R1876T)	Single nucleotide variant (missense variant +1 more)	Autism +1 more	GUncertain significance
Select item 735033	NM_006311.4(NCOR1):c.7104G>A (p.Gly2368=)	NCOR1, TTC19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 726341	NM_006311.4(NCOR1):c.7074A>G (p.Ser2358=)	TTC19, NCOR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 722211	NM_006311.4(NCOR1):c.6870G>A (p.Met2290Ile)	NCOR1, TTC19 (M2290I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 321985	NM_017775.3(TTC19):c.*1886T>C	NCOR1, TTC19	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 1	GUncertain significance
Select item 321984	NM_017775.4(TTC19):c.*1791T>C	NCOR1, TTC19	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 321983	NM_017775.4(TTC19):c.*1738T>C	NCOR1, TTC19	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 2	GUncertain significance
Select item 221573	NM_006311.4(NCOR1):c.4707del (p.Pro1570fs)	NCOR1 (P1586fs +1 more)	Deletion (frameshift variant)	Familial cancer of breast	GUncertain significance
Select item 221532	GRCh37/hg19 17p11.2(chr17:16052798-16062131)x4	NCOR1	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 152567	GRCh38/hg38 17p11.2(chr17:16195853-16203711)x3	NCOR1	Copy number gain	See cases	Gconflicting data from submitters

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Links from Gene

Items: 27