10780[HGNC] - ClinVar

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Items: 41

	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 146083	GRCh38/hg38 17q22(chr17:56683505-58084939)x1	AKAP1, AKAP1-DT +83 more	Copy number loss	See cases	GPathogenic
Select item 59591	GRCh38/hg38 17q22(chr17:56958745-58171125)x1	AKAP1, AKAP1-DT +76 more	Copy number loss	See cases	GPathogenic
Select item 151500	GRCh38/hg38 17q22-23.1(chr17:57418806-59735464)x1	C17orf47, CCDC182 +168 more	Copy number loss	See cases	GPathogenic
Select item 2490509	NM_006924.5(SRSF1):c.733C>T (p.Arg245Cys)	LOC126862603, SRSF1 (R245C)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2429788	NM_006924.5(SRSF1):c.601del (p.Ser201fs)	LOC126862603, SRSF1 (S201fs)	Deletion (3 prime UTR variant +2 more)	Neurodevelopmental delay +1 more	GPathogenic
Select item 2429782	NM_006924.5(SRSF1):c.579dup (p.Val194fs)	LOC126862603, SRSF1 (V194fs)	Duplication (3 prime UTR variant +2 more)	Neurodevelopmental delay +1 more	GPathogenic
Select item 2429785	NM_006924.5(SRSF1):c.548A>G (p.His183Arg)	LOC126862603, SRSF1 (H183R)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental delay +1 more	GUncertain significance
Select item 2429781	NM_006924.5(SRSF1):c.478G>A (p.Val160Met)	LOC126862603, SRSF1 (V160M)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental delay +1 more	GPathogenic
Select item 3322753	NM_006924.5(SRSF1):c.463G>A (p.Asp155Asn)	LOC126862603, SRSF1 (D155N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3170251	NM_006924.5(SRSF1):c.460C>T (p.Arg154Ter)	LOC126862603, SRSF1 (R154*)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3322751	NM_006924.5(SRSF1):c.458A>T (p.Tyr153Phe)	LOC126862603, SRSF1 (Y153F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2429775	NM_006924.5(SRSF1):c.377_378del (p.Ser126fs)	SRSF1 (S126fs)	Microsatellite (frameshift variant +1 more)	Neurodevelopmental delay +1 more	GPathogenic
Select item 488950	NM_006924.5(SRSF1):c.289C>T (p.Arg97Ter)	LOC130061266, SRSF1 (R97*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2429778	NM_006924.5(SRSF1):c.251T>G (p.Leu84Arg)	SRSF1 (L84R)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental delay +1 more	GPathogenic
Select item 3363491	NM_006924.5(SRSF1):c.241G>A (p.Gly81Arg)	SRSF1 (G81R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2429777	NM_006924.5(SRSF1):c.231T>G (p.Tyr77Ter)	SRSF1 (Y77*)	Single nucleotide variant (nonsense +1 more)	Neurodevelopmental delay +1 more	GPathogenic
Select item 3170250	NM_006924.5(SRSF1):c.209C>T (p.Ala70Val)	SRSF1 (A70V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2429776	NM_006924.5(SRSF1):c.208G>A (p.Ala70Thr)	SRSF1 (A70T)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental delay +1 more	GPathogenic
Select item 2429779	NM_006924.5(SRSF1):c.130G>A (p.Asp44Asn)	SRSF1 (D44N)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental delay +2 more	GUncertain significance
Select item 2429786	NM_006924.5(SRSF1):c.119G>T (p.Gly40Val)	SRSF1 (G40V)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental delay +1 more	GPathogenic
Select item 3372443	NM_006924.5(SRSF1):c.108C>G (p.Phe36Leu)	SRSF1 (F36L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2429787	NM_006924.5(SRSF1):c.97G>T (p.Glu33Ter)	SRSF1 (E33*)	Single nucleotide variant (nonsense +1 more)	Neurodevelopmental delay +1 more	GPathogenic
Select item 2429784	NM_006924.5(SRSF1):c.82C>T (p.Arg28Ter)	SRSF1 (R28*)	Single nucleotide variant (nonsense +1 more)	Neurodevelopmental delay +1 more	GPathogenic
Select item 3322752	NM_006924.5(SRSF1):c.77A>C (p.Asp26Ala)	SRSF1 (D26A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1331676	NM_006924.5(SRSF1):c.71C>T (p.Pro24Leu)	SRSF1 (P24L)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2429912	NM_006924.5(SRSF1):c.70C>T (p.Pro24Ser)	SRSF1 (P24S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3242218	Single allele	KIF18B, LPO +196 more	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
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 2429783	NC_000017.10:g.(?_55806534)_(56540597_?)del	CUEDC1, DYNLL2 +14 more	Deletion	Neurodevelopmental delay +1 more	GPathogenic
Select item 2429780	NC_000017.10:g.(?_55442363)_(56309063_?)del	CUEDC1, DYNLL2 +9 more	Deletion	Neurodevelopmental delay +1 more	GPathogenic
Select item 1710927	GRCh37/hg19 17q22(chr17:55043662-56728123)x1	LPO, MKS1 +21 more	Copy number loss	See cases	GPathogenic
Select item 1412084	NC_000017.10:g.(?_54671585)_(59938900_?)dup	AKAP1, APPBP2 +54 more	Duplication	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 1328440	GRCh37/hg19 17q22(chr17:55840956-56090386)x1	CUEDC1, MRPS23 +2 more	Copy number loss	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
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 394267	GRCh37/hg19 17q22(chr17:52189051-57477162)x3	AKAP1, ANKFN1 +42 more	Copy number gain	See cases	GPathogenic
Select item 394158	GRCh37/hg19 17q21.33-23.2(chr17:49076980-58740945)x3	AKAP1, ANKFN1 +65 more	Copy number gain	See cases	GPathogenic
Select item 253345	GRCh37/hg19 17q22(chr17:55916829-56770618)x1	MKS1, DYNLL2 +19 more	Copy number loss	See cases	GLikely pathogenic

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Items: 41