10363[HGNC] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 59787	GRCh38/hg38 8q12.1-21.13(chr8:57361243-79170078)x3	ADHFE1, ARFGEF1 +421 more	Copy number gain	See cases	GPathogenic
Select item 59788	GRCh38/hg38 8q12.3-21.13(chr8:61691800-82537696)x3	ADHFE1, ARFGEF1 +417 more	Copy number gain	See cases	GPathogenic
Select item 147946	GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3	LOC130000591, LOC130000592 +470 more	Copy number gain	See cases	GPathogenic
Select item 148965	GRCh38/hg38 8q13.1-21.13(chr8:66633845-80100089)x3	ARFGEF1, ARFGEF1-DT +245 more	Copy number gain	See cases	GPathogenic
Select item 59789	GRCh38/hg38 8q13.3-21.11(chr8:70948393-74353284)x3	C8orf89, ELOC +78 more	Copy number gain	See cases	GPathogenic
Select item 2229440	NM_000971.4(RPL7):c.730A>C (p.Ile244Leu)	RPL7 (I204L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328380	NM_000971.4(RPL7):c.449T>C (p.Val150Ala)	RPL7 (V110A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269375	NM_000971.4(RPL7):c.380A>G (p.Lys127Arg)	RPL7 (K87R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315218	NM_000971.4(RPL7):c.356A>G (p.Asn119Ser)	RPL7 (N79S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291010	NM_000971.4(RPL7):c.302T>C (p.Val101Ala)	RPL7 (V61A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470010	NM_000971.4(RPL7):c.292A>G (p.Ile98Val)	RPL7 (I98V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315217	NM_000971.4(RPL7):c.245A>G (p.Tyr82Cys)	RPL7 (Y42C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315221	NM_000971.4(RPL7):c.209G>T (p.Arg70Leu)	RPL7 (R30L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542903	NM_000971.4(RPL7):c.168C>G (p.His56Gln)	RPL7 (H16Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396466	NM_000971.4(RPL7):c.165G>T (p.Lys55Asn)	RPL7 (K15N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393339	NM_000971.4(RPL7):c.139A>G (p.Arg47Gly)	RPL7 (R7G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544703	NM_000971.4(RPL7):c.122T>G (p.Met41Arg)	RPL7 (M1R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315220	NM_000971.4(RPL7):c.44C>T (p.Pro15Leu)	RPL7 (P15L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156107	NM_000971.4(RPL7):c.11T>C (p.Val4Ala)	RPL7 (V4A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3315219	NM_000971.4(RPL7):c.7G>C (p.Gly3Arg)	RPL7 (G3R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	PREX2, PRKDC +240 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	HSF1, HTRA4 +474 more	Copy number gain	not provided	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	AARD, ABRA +593 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	FGF20, FGFR1 +665 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic
Select item 253364	GRCh37/hg19 8q13.3-21.13(chr8:70971013-82019151)x3	RPL7, XKR9 +34 more	Copy number gain	See cases	GLikely pathogenic

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Items: 39