137392[geneid] - ClinVar

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Items: 64

	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 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 60380	GRCh38/hg38 8q21.13-22.1(chr8:78672463-95366868)x1	LOC130000705, LOC130000706 +327 more	Copy number loss	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1153 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130001109, LOC130001110 +1532 more	Copy number gain	See cases	GPathogenic
Select item 60381	GRCh38/hg38 8q21.3-22.1(chr8:90940996-94538343)x1	C8orf88, CDH17 +72 more	Copy number loss	See cases	GPathogenic
Select item 60383	GRCh38/hg38 8q21.3-22.1(chr8:92283179-95786443)x1	CCNE2, CDH17 +109 more	Copy number loss	See cases	GPathogenic
Select item 60386	GRCh38/hg38 8q21.3-22.1(chr8:92287062-95786443)x1	CCNE2, CDH17 +109 more	Copy number loss	See cases	GPathogenic
Select item 60387	GRCh38/hg38 8q22.1(chr8:92755532-97792132)x1	CPQ, DPY19L4 +139 more	Copy number loss	See cases	GPathogenic
Select item 147309	GRCh38/hg38 8q22.1(chr8:93038175-95667782)x1	CCNE2, CDH17 +98 more	Copy number loss	See cases	GPathogenic
Select item 3144929	NM_145269.5(CIBAR1):c.56C>G (p.Ala19Gly)	CIBAR1 (A19G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2613814	NM_145269.5(CIBAR1):c.110A>G (p.Tyr37Cys)	CIBAR1 (Y37C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144922	NM_145269.5(CIBAR1):c.115C>T (p.Arg39Trp)	CIBAR1 (R39W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144923	NM_145269.5(CIBAR1):c.136G>A (p.Asp46Asn)	CIBAR1 (D46N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3035895	NM_145269.5(CIBAR1):c.186G>A (p.Glu62=)	CIBAR1	Single nucleotide variant (synonymous variant +1 more)	CIBAR1-related disorder	GLikely benign
Select item 3144924	NM_145269.5(CIBAR1):c.236A>G (p.Lys79Arg)	CIBAR1 (K79R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144925	NM_145269.5(CIBAR1):c.257C>G (p.Ala86Gly)	CIBAR1 (A86G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144926	NM_145269.5(CIBAR1):c.289G>A (p.Glu97Lys)	CIBAR1 (E97K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462026	NM_145269.5(CIBAR1):c.352A>C (p.Thr118Pro)	CIBAR1 (T118P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1687560	NM_145269.5(CIBAR1):c.364C>T (p.Arg122Ter)	CIBAR1 (R122*)	Single nucleotide variant (nonsense +1 more)	Polydactyly, postaxial, type A9	GPathogenic
Select item 2540404	NM_145269.5(CIBAR1):c.365G>A (p.Arg122Gln)	CIBAR1 (R122Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144927	NM_145269.5(CIBAR1):c.371C>A (p.Ala124Asp)	CIBAR1 (A124D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524745	NM_145269.5(CIBAR1):c.386A>G (p.Gln129Arg)	CIBAR1 (Q129R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2442170	NM_145269.5(CIBAR1):c.394_397del (p.Arg132fs)	CIBAR1 (R132fs)	Microsatellite (frameshift variant +1 more)	Polydactyly, postaxial, type A9	GLikely pathogenic
Select item 3144928	NM_145269.5(CIBAR1):c.407G>A (p.Arg136Gln)	CIBAR1 (R136Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267334	NM_145269.5(CIBAR1):c.422G>A (p.Arg141Gln)	CIBAR1 (R141Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 592165	NM_145269.5(CIBAR1):c.478C>T (p.Arg160Ter)	CIBAR1 (R160*)	Single nucleotide variant (nonsense +1 more)	Polydactyly, postaxial, type A9	GPathogenic
Select item 3056249	NM_145269.5(CIBAR1):c.665G>A (p.Arg222Gln)	CIBAR1 (R184Q +1 more)	Single nucleotide variant (missense variant +1 more)	CIBAR1-related disorder	GBenign
Select item 3144930	NM_145269.5(CIBAR1):c.682C>A (p.Pro228Thr)	CIBAR1 (P190T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144931	NM_145269.5(CIBAR1):c.683C>T (p.Pro228Leu)	CIBAR1 (P190L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144932	NM_145269.5(CIBAR1):c.698G>A (p.Arg233His)	CIBAR1 (R233H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3036032	NM_145269.5(CIBAR1):c.707T>G (p.Ile236Ser)	CIBAR1 (I198S +1 more)	Single nucleotide variant (missense variant +1 more)	CIBAR1-related disorder	GLikely benign
Select item 2531711	NM_145269.5(CIBAR1):c.788G>T (p.Cys263Phe)	CIBAR1, RBM12B (C263F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2456925	NM_145269.5(CIBAR1):c.800A>G (p.Lys267Arg)	CIBAR1, RBM12B (K229R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
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 2685316	GRCh37/hg19 8q21.3-22.1(chr8:86955187-94955826)x1	ATP6V0D2, CALB1 +26 more	Copy number loss	not provided	GUncertain significance
Select item 2685315	GRCh37/hg19 8q21.13-22.1(chr8:84127576-98263585)x1	ATP6V0D2, CA1 +53 more	Copy number loss	not provided	GPathogenic
Select item 2684548	GRCh37/hg19 8q22.1(chr8:94622851-96626603)x3	CCNE2, CDH17 +15 more	Copy number gain	not provided	GUncertain significance
Select item 2684546	GRCh37/hg19 8q21.12-22.3(chr8:79046933-102008860)x3	ANKRD46, ATP6V0D2 +96 more	Copy number gain	not provided	GPathogenic
Select item 2506527	GRCh37/hg19 8q21.3-22.1(chr8:89179899-97978274)	LINC02906, LRRC69 +36 more	Copy number loss	not provided	GPathogenic
Select item 1808681	GRCh37/hg19 8q21.12-24.11(chr8:79409349-119040631)x3	AARD, ABRA +141 more	Copy number gain	not provided	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 1706511	GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3	AARD, ABRA +285 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 563556	GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3	DCAF13, CNGB3 +105 more	Copy number gain	not provided	GPathogenic
Select item 443924	GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3	AARD, ABRA +277 more	Copy number gain	See cases	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 441804	GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3	RRM2B, SLC30A8 +160 more	Copy number gain	See cases	GPathogenic
Select item 441773	GRCh37/hg19 8q22.1(chr8:93391781-96572606)x1	CCNE2, CDH17 +17 more	Copy number loss	See cases	GLikely pathogenic
Select item 441594	GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3	SLC45A4, SLC7A13 +189 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

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Items: 64