TM9SF1[gene] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	TRDC, TRDD1 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126861920, LOC126861921 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	GSC, GSC-DT +3275 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC130055370, LOC130055371 +840 more	Copy number loss	See cases	GPathogenic
Select item 148657	GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3	ABHD4, ACIN1 +529 more	Copy number gain	See cases	GLikely pathogenic
Select item 57750	GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1	ADCY4, AKAP6 +399 more	Copy number loss	See cases	GPathogenic
Select item 154806	GRCh38/hg38 14q11.2-12(chr14:23984065-25374494)x1	ADCY4, CARMIL3 +122 more	Copy number loss	See cases	GPathogenic
Select item 2487978	NM_006405.7(TM9SF1):c.1793A>G (p.Tyr598Cys)	TM9SF1 (Y598C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178146	NM_006405.7(TM9SF1):c.1787T>C (p.Ile596Thr)	TM9SF1 (I509T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322820	NM_006405.7(TM9SF1):c.1744C>T (p.Leu582Phe)	TM9SF1 (L495F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336451	NM_006405.7(TM9SF1):c.1613G>A (p.Ser538Asn)	TM9SF1 (S451N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353863	NM_006405.7(TM9SF1):c.1601G>A (p.Arg534Gln)	TM9SF1 (R534Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265153	NM_006405.7(TM9SF1):c.1582G>A (p.Asp528Asn)	TM9SF1 (D441N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472911	NM_006405.7(TM9SF1):c.1504T>C (p.Phe502Leu)	TM9SF1 (F502L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326911	NM_006405.7(TM9SF1):c.1399A>G (p.Met467Val)	TM9SF1 (M380V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370354	NM_006405.7(TM9SF1):c.1359G>T (p.Glu453Asp)	TM9SF1 (E453D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226125	NM_006405.7(TM9SF1):c.1354C>T (p.Arg452Trp)	TM9SF1 (R365W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325491	NM_006405.7(TM9SF1):c.1351G>A (p.Ala451Thr)	TM9SF1 (A364T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544911	NM_006405.7(TM9SF1):c.1292G>A (p.Gly431Asp)	TM9SF1 (G431D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178145	NM_006405.7(TM9SF1):c.1286T>C (p.Ile429Thr)	TM9SF1 (I429T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178144	NM_006405.7(TM9SF1):c.1202A>G (p.Asn401Ser)	TM9SF1 (N401S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178143	NM_006405.7(TM9SF1):c.1202A>C (p.Asn401Thr)	TM9SF1 (N401T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410859	NM_006405.7(TM9SF1):c.1198G>A (p.Ala400Thr)	TM9SF1 (A313T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536786	NM_006405.7(TM9SF1):c.1129A>G (p.Ile377Val)	TM9SF1 (I290V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508160	NM_006405.7(TM9SF1):c.1094G>A (p.Arg365Gln)	TM9SF1 (R278Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366219	NM_006405.7(TM9SF1):c.1007A>G (p.His336Arg)	TM9SF1 (H249R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178150	NM_006405.7(TM9SF1):c.988C>G (p.Leu330Val)	TM9SF1 (L243V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207221	NM_006405.7(TM9SF1):c.979A>G (p.Met327Val)	TM9SF1 (M240V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178149	NM_006405.7(TM9SF1):c.958C>T (p.Leu320Phe)	TM9SF1 (L233F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309265	NM_006405.7(TM9SF1):c.827C>T (p.Ser276Phe)	TM9SF1 (S276F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337108	NM_006405.7(TM9SF1):c.785G>A (p.Arg262Gln)	TM9SF1 (R175Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224629	NM_006405.7(TM9SF1):c.686C>G (p.Pro229Arg)	TM9SF1 (P229R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508867	NM_006405.7(TM9SF1):c.661C>T (p.Arg221Cys)	TM9SF1 (R134C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389578	NM_006405.7(TM9SF1):c.545G>A (p.Arg182Gln)	TM9SF1 (R182Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228391	NM_006405.7(TM9SF1):c.544C>T (p.Arg182Trp)	TM9SF1 (R182W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219055	NM_006405.7(TM9SF1):c.445G>A (p.Gly149Ser)	TM9SF1 (G149S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268553	NM_006405.7(TM9SF1):c.443G>C (p.Ser148Thr)	TM9SF1 (S148T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367698	NM_006405.7(TM9SF1):c.416G>A (p.Arg139Gln)	TM9SF1 (R52Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596203	NM_006405.7(TM9SF1):c.287G>A (p.Arg96His)	TM9SF1 (R9H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332972	NM_006405.7(TM9SF1):c.232A>G (p.Ser78Gly)	TM9SF1 (S78G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178147	NM_006405.7(TM9SF1):c.228C>G (p.Ser76Arg)	TM9SF1 (S76R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178148	NM_006405.7(TM9SF1):c.68G>A (p.Gly23Asp)	TM9SF1 (G23D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685479	GRCh37/hg19 14q11.2-12(chr14:24445622-28262222)x1	RIPK3, RNF31 +41 more	Copy number loss	not provided	GLikely pathogenic
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2423736	NC_000014.8:g.(?_23242819)_(25103366_?)dup	ACIN1, ADCY4 +77 more	Duplication	Lysinuric protein intolerance +1 more	GUncertain significance
Select item 1703540	GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203)	ABHD4, ACIN1 +197 more	Copy number gain	Seizure	GPathogenic
Select item 1676204	NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del	DHRS1, NYNRIN +190 more	Deletion	Brain-lung-thyroid syndrome	GPathogenic
Select item 980003	GRCh37/hg19 14q11.2-12(chr14:24163771-24818728)x3	ADCY4, CARMIL3 +31 more	Copy number gain	not provided	GUncertain significance
Select item 973024	GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3	AKAP6, MDP1 +187 more	Copy number gain	not provided	Gnot provided
Select item 815628	GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3	ABHD4, ACIN1 +187 more	Copy number gain	not provided	GPathogenic
Select item 625814	GRCh37/hg19 14q11.2-12(chr14:19100682-28730087)	ARHGEF40, BCL2L2 +152 more	Copy number gain	not provided	GPathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	ABCD4, ABHD12B +624 more	Copy number gain	See cases	GPathogenic
Select item 442398	GRCh37/hg19 14q11.2-12(chr14:24233721-31377083)x1	ADCY4, CARMIL3 +48 more	Copy number loss	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ACTN1, ACTR10 +635 more	Copy number gain	See cases	GPathogenic
Select item 394361	GRCh37/hg19 14q11.2-13.1(chr14:19794561-34049214)x3	CIDEB, MIR208A +164 more	Copy number gain	See cases	GPathogenic
Select item 253659	GRCh37/hg19 14q11.2-12(chr14:19794561-27768254)x3	ABHD4, ACIN1 +149 more	Copy number gain	See cases	GPathogenic

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Items: 58