10436[HGNC] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	LOC112533659, LOC112533660 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	AARSD1, AATF +1753 more	Copy number gain	See cases	GPathogenic
Select item 2605877	NM_003161.4(RPS6KB1):c.15G>T (p.Arg5Ser)	RPS6KB1 (R5S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2336734	NM_003161.4(RPS6KB1):c.52G>A (p.Asp18Asn)	RPS6KB1 (D18N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3156249	NM_003161.4(RPS6KB1):c.61G>A (p.Ala21Thr)	RPS6KB1 (A21T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2321039	NM_003161.4(RPS6KB1):c.76G>A (p.Gly26Arg)	RPS6KB1 (G26R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3156247	NM_003161.4(RPS6KB1):c.115G>T (p.Gly39Cys)	RPS6KB1 (G39C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2224144	NM_003161.4(RPS6KB1):c.123G>C (p.Glu41Asp)	RPS6KB1 (E41D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 781310	NM_003161.4(RPS6KB1):c.135G>A (p.Glu45=)	RPS6KB1	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 722736	NM_003161.4(RPS6KB1):c.141+8C>G	RPS6KB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3156248	NM_003161.4(RPS6KB1):c.142G>T (p.Gly48Cys)	RPS6KB1 (G48C +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 778132	NM_003161.4(RPS6KB1):c.313-8T>A	RPS6KB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2220630	NM_003161.4(RPS6KB1):c.434A>G (p.Asn145Ser)	RPS6KB1 (N65S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285461	NM_003161.4(RPS6KB1):c.1328G>A (p.Arg443Gln)	RPS6KB1 (R354Q +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2475642	NM_003161.4(RPS6KB1):c.1336G>C (p.Val446Leu)	RPS6KB1 (V366L +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2617400	NM_003161.4(RPS6KB1):c.1384T>C (p.Ser462Pro)	RPS6KB1 (S462P +6 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2474379	NM_003161.4(RPS6KB1):c.1430A>C (p.Glu477Ala)	RPS6KB1 (E424A +6 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 1412084	NC_000017.10:g.(?_54671585)_(59938900_?)dup	TEX14, TRIM25 +54 more	Duplication	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 1340823	GRCh37/hg19 17q23.1-23.2(chr17:57605300-59389547)x1	APPBP2, BCAS3 +13 more	Copy number loss	not provided	GPathogenic
Select item 815943	GRCh37/hg19 17q23.1(chr17:57931020-57986918)x1	TUBD1, RPS6KB1	Copy number loss	not provided	GUncertain significance
Select item 815942	GRCh37/hg19 17q23.1(chr17:57616400-57986918)x1	TUBD1, VMP1 +5 more	Copy number loss	not provided	GLikely pathogenic
Select item 685257	GRCh37/hg19 17q23.1-24.2(chr17:57869604-67078443)x3	ABCA6, ABCA8 +79 more	Copy number gain	not provided	GPathogenic
Select item 625756	GRCh37/hg19 17q22-24.2(chr17:57357088-66306668)	ACE, AMZ2 +77 more	Copy number gain	not provided	GPathogenic
Select item 443558	GRCh37/hg19 17q22-23.2(chr17:56623275-60285107)x1	APPBP2, BCAS3 +29 more	Copy number loss	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
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 253549	GRCh37/hg19 17q22-23.3(chr17:56321134-62080001)x3	TANC2, DDX42 +66 more	Copy number gain	See cases	GPathogenic

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Items: 29