9974[HGNC] - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 57076	GRCh38/hg38 17q25.3(chr17:78092236-83086677)x3	AATK, ACTG1 +513 more	Copy number gain	See cases	GPathogenic
Select item 57263	GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3	AATK, ACTG1 +387 more	Copy number gain	See cases	GPathogenic
Select item 58714	GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3	AATK, ACTG1 +385 more	Copy number gain	See cases	GPathogenic
Select item 149717	GRCh38/hg38 17q25.3(chr17:81008196-83102584)x3	AATK, ACTG1 +262 more	Copy number gain	See cases	GPathogenic
Select item 153720	GRCh38/hg38 17q25.3(chr17:81401966-83084062)x1	ACTG1, ALYREF +226 more	Copy number loss	See cases	GLikely pathogenic
Select item 60175	GRCh38/hg38 17q25.3(chr17:81885863-82358856)x3	LOC130062008, LOC130062009 +95 more	Copy number gain	See cases	GUncertain significance
Select item 2499662	GRCh38/hg38 17q25.3(chr17:82004063-83087346)	ASPSCR1, B3GNTL1 +130 more	Copy number loss	Anomalous pulmonary venous return	GUncertain significance
Select item 2549267	NM_002917.2(RFNG):c.986C>T (p.Thr329Ile)	RFNG (T329I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2403199	NM_002917.2(RFNG):c.983C>T (p.Pro328Leu)	RFNG (P328L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2245287	NM_002917.2(RFNG):c.977G>A (p.Gly326Asp)	RFNG (G326D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591109	NM_002917.2(RFNG):c.913C>T (p.Arg305Trp)	RFNG (R305W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354485	NM_002917.2(RFNG):c.868G>A (p.Val290Met)	RFNG (V290M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373689	NM_002917.2(RFNG):c.859C>G (p.Pro287Ala)	RFNG (P287A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454817	NM_002917.2(RFNG):c.800G>A (p.Arg267Lys)	RFNG (R267K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592971	NM_002917.2(RFNG):c.766C>T (p.Pro256Ser)	RFNG (P256S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3153389	NM_002917.2(RFNG):c.730G>A (p.Val244Met)	RFNG (V244M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289635	NM_002917.2(RFNG):c.698G>A (p.Arg233Gln)	RFNG (R233Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319221	NM_002917.2(RFNG):c.697C>T (p.Arg233Trp)	RFNG (R233W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648481	NM_002917.2(RFNG):c.663-4C>G	RFNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3153387	NM_002917.2(RFNG):c.632G>T (p.Gly211Val)	RFNG (G211V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153386	NM_002917.2(RFNG):c.580A>G (p.Thr194Ala)	RFNG (T194A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153385	NM_002917.2(RFNG):c.572C>T (p.Thr191Ile)	RFNG (T191I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648482	NM_002917.2(RFNG):c.522C>T (p.Pro174=)	RFNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3153384	NM_002917.2(RFNG):c.494C>G (p.Pro165Arg)	RFNG (P165R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153383	NM_002917.2(RFNG):c.472C>T (p.His158Tyr)	RFNG (H158Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253900	NM_002917.2(RFNG):c.464G>A (p.Ser155Asn)	RFNG (S155N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487771	NM_002917.2(RFNG):c.457G>T (p.Ala153Ser)	RFNG (A153S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224033	NM_002917.2(RFNG):c.457G>A (p.Ala153Thr)	RFNG (A153T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287521	NM_002917.2(RFNG):c.415C>T (p.Arg139Cys)	RFNG (R139C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264007	NM_002917.2(RFNG):c.376A>G (p.Lys126Glu)	RFNG (K126E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153382	NM_002917.2(RFNG):c.353G>A (p.Arg118His)	RFNG (R118H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2342657	NM_002917.2(RFNG):c.215G>C (p.Gly72Ala)	GPS1, RFNG (G72A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345671	NM_002917.2(RFNG):c.202C>T (p.Arg68Trp)	GPS1, RFNG (R68W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 716492	NM_002917.2(RFNG):c.201C>T (p.Thr67=)	GPS1, RFNG	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2517688	NM_002917.2(RFNG):c.167G>A (p.Arg56Gln)	GPS1, RFNG (R56Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2648483	NM_002917.2(RFNG):c.6C>T (p.Ser2=)	GPS1, RFNG	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2685609	GRCh37/hg19 17q25.3(chr17:79128754-80092824)x1	AATK, ACTG1 +41 more	Copy number loss	not provided	GLikely pathogenic
Select item 2671602	Single allele	ASPSCR1, B3GNTL1 +28 more	Duplication	not provided	GUncertain significance
Select item 2445210	Single allele	FOXK2, GCGR +51 more	Deletion	See cases	GPathogenic
Select item 2425655	NC_000017.10:g.(?_79891090)_(80333370_?)del	ASPSCR1, CCDC57 +17 more	Deletion	not provided	GPathogenic
Select item 2424500	NC_000017.10:g.(?_79477716)_(80900339_?)dup	MAFG, MCRIP1 +52 more	Duplication	not provided	GUncertain significance
Select item 1701331	GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3	CANT1, CARD14 +146 more	Copy number gain	not provided	GPathogenic
Select item 1526589	GRCh37/hg19 17q25.3(chr17:79976464-81041938)	B3GNTL1, CCDC57 +27 more	Copy number loss	not specified	GUncertain significance
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 687727	GRCh37/hg19 17q25.3(chr17:78608912-81041938)x3	AATK, ACTG1 +65 more	Copy number gain	not provided	GPathogenic
Select item 687520	GRCh37/hg19 17q25.3(chr17:79663313-80197463)x3	ALYREF, ANAPC11 +26 more	Copy number gain	not provided	GUncertain significance
Select item 564476	GRCh37/hg19 17q25.3(chr17:76552611-81041938)x3	AATK, ACTG1 +88 more	Copy number gain	not provided	GLikely pathogenic
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 443488	GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	AANAT, AATK +202 more	Copy number gain	See cases	GPathogenic
Select item 443446	GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3	AANAT, AATK +128 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic

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Items: 55