CBR3-AS1[gene] - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160886	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LCA5L, LINC00111 +1159 more	Copy number gain	See cases	GPathogenic
Select item 155309	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC126653353, LOC126653354 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155093	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)	KRTAP8-1, LCA5L +1160 more	Copy number gain	See cases	GPathogenic
Select item 155053	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	RNA5-8SN1, RNA5-8SN2 +1160 more	Copy number gain	See cases	GPathogenic
Select item 153438	GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3	LOC130066804, LOC130066805 +1160 more	Copy number gain	See cases	GUncertain significance
Select item 152839	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 151388	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3	SCAF4, SETD4 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149418	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC126653353, LOC126653354 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149160	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC129388418, LOC129391214 +1160 more	Copy number gain	See cases	GPathogenic
Select item 149035	GRCh38/hg38 21p11.2-q22.13(chr21:7749532-37653653)x1	KCNJ6, KCNJ6-AS1 +643 more	Copy number loss	See cases	GPathogenic
Select item 148262	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148180	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 146125	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145474	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LINC00515, LINC00649 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145468	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3	LOC130066731, LOC130066732 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145332	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145107	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3	ETS2-AS1, EVA1C +1157 more	Copy number gain	See cases	GPathogenic
Select item 144677	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LOC130066726, LOC130066727 +1159 more	Copy number gain	See cases	GPathogenic
Select item 144194	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3	LOC128849172, LOC129388418 +884 more	Copy number gain	See cases	GPathogenic
Select item 59247	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59246	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	SLC5A3, SLX9 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59245	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3	LINC01425, LINC01426 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59224	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066861, LOC130066862 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59223	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066468, LOC130066469 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59222	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59221	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	AATBC, ABCG1 +1155 more	Copy number gain	See cases	GPathogenic
Select item 32099	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LOC112694754, LOC114004360 +1159 more	Copy number gain	See cases	GPathogenic
Select item 154360	GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	LOC130066795, LOC130066796 +1156 more	Copy number loss	See cases	GPathogenic
Select item 147667	GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1	LINC01424, LINC01436 +643 more	Copy number loss	See cases	GPathogenic
Select item 146086	GRCh38/hg38 21q22.12-22.2(chr21:35543872-39993338)x1	B3GALT5, B3GALT5-AS1 +177 more	Copy number loss	See cases	GPathogenic
Select item 144137	GRCh38/hg38 21q22.12-22.2(chr21:35772177-38558509)x1	CBR1, CBR1-AS1 +110 more	Copy number loss	See cases	GPathogenic
Select item 149106	GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3	AATBC, ABCG1 +598 more	Copy number gain	See cases	GPathogenic
Select item 145108	GRCh38/hg38 21q22.12(chr21:36125853-36227968)x3	CBR1-AS1, CBR3 +4 more	Copy number gain	See cases	GBenign/Likely benign
Select item 3138034	NM_001236.4(CBR3):c.5C>G (p.Ser2Trp)	CBR3, CBR3-AS1 (S2W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138031	NM_001236.4(CBR3):c.50T>C (p.Ile17Thr)	CBR3, CBR3-AS1 (I17T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400734	NM_001236.4(CBR3):c.52G>A (p.Gly18Ser)	CBR3, CBR3-AS1 (G18S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138028	NM_001236.4(CBR3):c.106A>C (p.Thr36Pro)	CBR3, CBR3-AS1 (T36P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260592	NM_001236.4(CBR3):c.118G>A (p.Val40Met)	CBR3, CBR3-AS1 (V40M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274807	NM_001236.4(CBR3):c.153G>C (p.Gln51His)	CBR3, CBR3-AS1 (Q51H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138029	NM_001236.4(CBR3):c.161G>A (p.Gly54Asp)	CBR3, CBR3-AS1 (G54D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525864	NM_001236.4(CBR3):c.188A>G (p.Asp63Gly)	CBR3, CBR3-AS1 (D63G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263654	NM_001236.4(CBR3):c.256G>A (p.Val86Ile)	CBR3, CBR3-AS1 (V86I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611095	NM_001236.4(CBR3):c.270C>A (p.Asn90Lys)	CBR3, CBR3-AS1 (N90K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459068	NM_001236.4(CBR3):c.324G>T (p.Glu108Asp)	CBR3, CBR3-AS1 (E108D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272281	NM_001236.4(CBR3):c.362T>C (p.Met121Thr)	CBR3, CBR3-AS1 (M121T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138030	NM_001236.4(CBR3):c.364T>A (p.Cys122Ser)	CBR3, CBR3-AS1 (C122S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773089	NM_001236.4(CBR3):c.370G>A (p.Glu124Lys)	CBR3, CBR3-AS1 (E124K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2512801	NM_001236.4(CBR3):c.380C>T (p.Pro127Leu)	CBR3, CBR3-AS1 (P127L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277137	NM_001236.4(CBR3):c.448T>C (p.Cys150Arg)	CBR3, CBR3-AS1 (C150R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138032	NM_001236.4(CBR3):c.541A>C (p.Asn181His)	CBR3, CBR3-AS1 (N181H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138033	NM_001236.4(CBR3):c.547G>A (p.Val183Met)	CBR3, CBR3-AS1 (V183M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289168	NM_001236.4(CBR3):c.596T>G (p.Leu199Trp)	CBR3, CBR3-AS1 (L199W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2374011	NM_001236.4(CBR3):c.605C>A (p.Thr202Lys)	CBR3, CBR3-AS1 (T202K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2223804	NM_001236.4(CBR3):c.614C>G (p.Ser205Trp)	CBR3, CBR3-AS1 (S205W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3138035	NM_001236.4(CBR3):c.631C>T (p.Arg211Cys)	CBR3, CBR3-AS1 (R211C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2283461	NM_001236.4(CBR3):c.674C>T (p.Ala225Val)	CBR3, CBR3-AS1 (A225V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2248364	NM_001236.4(CBR3):c.784A>G (p.Thr262Ala)	CBR3, CBR3-AS1 (T262A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138036	NM_001236.4(CBR3):c.815A>G (p.Lys272Arg)	CBR3, CBR3-AS1 (K272R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138037	NM_001236.4(CBR3):c.820G>A (p.Val274Met)	CBR3, CBR3-AS1 (V274M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 60