5651[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160886	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	NCAM2, NDUFV3 +1159 more	Copy number gain	See cases	GPathogenic
Select item 155309	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	PDE9A-AS1, PDXK +1160 more	Copy number gain	See cases	GPathogenic
Select item 155093	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)	LOC130066843, LOC130066844 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155053	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC126653343, LOC126653344 +1160 more	Copy number gain	See cases	GPathogenic
Select item 153438	GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GUncertain significance
Select item 152839	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3	LINC00315, LINC00316 +1160 more	Copy number gain	See cases	GPathogenic
Select item 151388	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3	ATP5PF, ATP5PO +1159 more	Copy number gain	See cases	GPathogenic
Select item 149418	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC126653350, LOC126653351 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149160	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LINC00111, LINC00112 +1160 more	Copy number gain	See cases	GPathogenic
Select item 149035	GRCh38/hg38 21p11.2-q22.13(chr21:7749532-37653653)x1	ADAMTS1, ADAMTS5 +643 more	Copy number loss	See cases	GPathogenic
Select item 148262	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	TSPEAR-AS1, TSPEAR-AS2 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148180	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC130066578, LOC130066579 +1159 more	Copy number gain	See cases	GPathogenic
Select item 146125	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3	LOC126653316, LOC126653317 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	LOC130066758, LOC130066759 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145474	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145468	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145332	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3	LOC130066717, LOC130066718 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145107	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 144677	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LOC125418051, LOC125418052 +1159 more	Copy number gain	See cases	GPathogenic
Select item 144194	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3	ABCG1, ADAMTS1 +884 more	Copy number gain	See cases	GPathogenic
Select item 59247	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	HSF2BP, HSPA13 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59246	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59245	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3	LOC130066756, LOC130066757 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59224	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	AATBC, ABCG1 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59223	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	AATBC, ABCG1 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59222	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3	KRTAP12-3, KRTAP12-4 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59221	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC107403153, LOC107548109 +1155 more	Copy number gain	See cases	GPathogenic
Select item 32099	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	SON, SPATC1L +1159 more	Copy number gain	See cases	GPathogenic
Select item 154360	GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	LOC130066735, LOC130066736 +1156 more	Copy number loss	See cases	GPathogenic
Select item 236548	GRCh38/hg38 21p11.2-q21.3(chr21:13048294-27532614)	LOC126653329, LOC130066449 +219 more	Copy number loss	Monosomy 21	GPathogenic
Select item 59220	GRCh38/hg38 21q11.2-21.1(chr21:13076061-19390260)x3	LOC112694734, LOC116309120 +118 more	Copy number gain	See cases	GPathogenic
Select item 59004	GRCh38/hg38 21q11.2-21.3(chr21:13194345-29257208)x1	ADAMTS1, ADAMTS5 +256 more	Copy number loss	See cases	GPathogenic
Select item 155682	GRCh38/hg38 21q11.2-21.3(chr21:13634137-27862841)x1	ADAMTS1, ADAMTS5 +214 more	Copy number loss	See cases	GPathogenic
Select item 59225	GRCh38/hg38 21q11.2-21.1(chr21:13696993-21440046)x3	ASMER1, BTG3 +129 more	Copy number gain	See cases	GPathogenic
Select item 236549	GRCh38/hg38 21q11.2-21.3(chr21:14000146-27785985)	C21orf91, LOC125387325 +209 more	Copy number loss	Monosomy 21	GPathogenic
Select item 59005	GRCh38/hg38 21q11.2-22.11(chr21:14000720-30903065)x1	ADAMTS1, ADAMTS5 +300 more	Copy number loss	See cases	GPathogenic
Select item 149825	GRCh38/hg38 21q11.2-21.1(chr21:14112717-21297273)x1	ASMER1, BTG3 +121 more	Copy number loss	See cases	GPathogenic
Select item 59007	GRCh38/hg38 21q11.2-21.1(chr21:14127526-19238720)x1	LOC130066445, LOC130066446 +102 more	Copy number loss	See cases	GPathogenic
Select item 147792	GRCh38/hg38 21q21.1-21.2(chr21:15341716-22826315)x1	BTG3, BTG3-AS1 +76 more	Copy number loss	See cases	GPathogenic
Select item 1696614	Single allele	LOC130066465, LOC130066466 +46 more	Deletion	not provided	GUncertain significance
Select item 146349	GRCh38/hg38 21q21.1-21.2(chr21:16872635-24024990)x3	BTG3, BTG3-AS1 +64 more	Copy number gain	See cases	GUncertain significance
Select item 2118032	NM_002772.3(TMPRSS15):c.3038G>A (p.Trp1013Ter)	TMPRSS15 (W1013*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2058153	NM_002772.3(TMPRSS15):c.3034G>A (p.Glu1012Lys)	TMPRSS15 (E1012K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3179903	NM_002772.3(TMPRSS15):c.3032C>T (p.Thr1011Ile)	TMPRSS15 (T1011I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2127725	NM_002772.3(TMPRSS15):c.3025A>G (p.Arg1009Gly)	TMPRSS15 (R1009G)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1973483	NM_002772.3(TMPRSS15):c.3016A>G (p.Arg1006Gly)	TMPRSS15 (R1006G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2715807	NM_002772.3(TMPRSS15):c.3015C>G (p.Ala1005=)	TMPRSS15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2076344	NM_002772.3(TMPRSS15):c.3004G>A (p.Gly1002Arg)	TMPRSS15 (G1002R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3013835	NM_002772.3(TMPRSS15):c.3003C>T (p.Pro1001=)	TMPRSS15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2054818	NM_002772.3(TMPRSS15):c.2999G>A (p.Arg1000His)	TMPRSS15 (R1000H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2125905	NM_002772.3(TMPRSS15):c.2998C>T (p.Arg1000Cys)	TMPRSS15 (R1000C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2068350	NM_002772.3(TMPRSS15):c.2998C>A (p.Arg1000Ser)	TMPRSS15 (R1000S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2265836	NM_002772.3(TMPRSS15):c.2987C>T (p.Ala996Val)	TMPRSS15 (A996V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2005688	NM_002772.3(TMPRSS15):c.2959G>A (p.Gly987Ser)	TMPRSS15 (G987S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2011611	NM_002772.3(TMPRSS15):c.2953C>G (p.Leu985Val)	TMPRSS15 (L985V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2040424	NM_002772.3(TMPRSS15):c.2944A>G (p.Arg982Gly)	TMPRSS15 (R982G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2175430	NM_002772.3(TMPRSS15):c.2928G>C (p.Met976Ile)	TMPRSS15 (M976I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2540386	NM_002772.3(TMPRSS15):c.2927T>C (p.Met976Thr)	TMPRSS15 (M976T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2197345	NM_002772.3(TMPRSS15):c.2907G>A (p.Gly969=)	TMPRSS15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 722982	NM_002772.3(TMPRSS15):c.2905G>A (p.Gly969Arg)	TMPRSS15 (G969R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2104267	NM_002772.3(TMPRSS15):c.2905-20T>C	TMPRSS15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2068213	NM_002772.3(TMPRSS15):c.2904+6G>T	TMPRSS15	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3179902	NM_002772.3(TMPRSS15):c.2895T>A (p.Asp965Glu)	TMPRSS15 (D1010E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611549	NM_002772.3(TMPRSS15):c.2887G>A (p.Gly963Arg)	TMPRSS15 (G963R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2085786	NM_002772.3(TMPRSS15):c.2848A>T (p.Ile950Phe)	TMPRSS15 (I950F)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2597778	NM_002772.3(TMPRSS15):c.2828A>G (p.Gln943Arg)	TMPRSS15 (Q943R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2420761	NM_002772.3(TMPRSS15):c.2827C>T (p.Gln943Ter)	TMPRSS15 (Q943*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1977959	NM_002772.3(TMPRSS15):c.2825A>G (p.Gln942Arg)	TMPRSS15 (Q942R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3064855	NM_002772.3(TMPRSS15):c.2809delinsATCA (p.Ser937delinsIleThr)	TMPRSS15	Indel (inframe_indel)	not provided	GUncertain significance
Select item 1251988	NM_002772.3(TMPRSS15):c.2808_2809insATCA (p.Ser937fs)	TMPRSS15 (S937fs)	Insertion (frameshift variant)	Enterokinase deficiency	GPathogenic
Select item 1995358	NM_002772.3(TMPRSS15):c.2808A>G (p.Leu936=)	TMPRSS15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2133611	NM_002772.3(TMPRSS15):c.2803C>T (p.Leu935Phe)	TMPRSS15 (L935F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2814681	NM_002772.3(TMPRSS15):c.2785C>T (p.Gln929Ter)	TMPRSS15 (Q929*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3068205	NM_002772.3(TMPRSS15):c.2765-2A>G	TMPRSS15	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2025486	NM_002772.3(TMPRSS15):c.2765-3C>A	TMPRSS15	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1971787	NM_002772.3(TMPRSS15):c.2765-15C>T	TMPRSS15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1976616	NM_002772.3(TMPRSS15):c.2764+14_2764+16delinsAAA	TMPRSS15	Indel (intron variant)	not provided	GUncertain significance
Select item 1970972	NM_002772.3(TMPRSS15):c.2764+16C>A	TMPRSS15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1970973	NM_002772.3(TMPRSS15):c.2764+15T>A	TMPRSS15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1970975	NM_002772.3(TMPRSS15):c.2764+14C>A	TMPRSS15	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2867766	NM_002772.3(TMPRSS15):c.2764+11A>T	TMPRSS15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1996634	NM_002772.3(TMPRSS15):c.2764+11A>G	TMPRSS15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 773611	NM_002772.3(TMPRSS15):c.2764+10C>A	TMPRSS15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 773612	NM_002772.3(TMPRSS15):c.2764+9T>A	TMPRSS15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 773613	NM_002772.3(TMPRSS15):c.2764+7T>A	TMPRSS15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2877335	NM_002772.3(TMPRSS15):c.2751G>A (p.Thr917=)	TMPRSS15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2417028	NM_002772.3(TMPRSS15):c.2750C>T (p.Thr917Met)	TMPRSS15 (T917M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2692830	NM_002772.3(TMPRSS15):c.2744G>A (p.Trp915Ter)	TMPRSS15 (W915*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2127164	NM_002772.3(TMPRSS15):c.2738C>T (p.Ala913Val)	TMPRSS15 (A913V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2198072	NM_002772.3(TMPRSS15):c.2725A>T (p.Asn909Tyr)	TMPRSS15 (N909Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 790438	NM_002772.3(TMPRSS15):c.2716C>G (p.Pro906Ala)	TMPRSS15 (P906A)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2009657	NM_002772.3(TMPRSS15):c.2715T>C (p.Pro905=)	TMPRSS15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 4167	NM_002772.3(TMPRSS15):c.2707_2708del (p.Val903fs)	TMPRSS15 (V903fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2072938	NM_002772.3(TMPRSS15):c.2706A>G (p.Gln902=)	TMPRSS15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 786439	NM_002772.3(TMPRSS15):c.2704C>G (p.Gln902Glu)	TMPRSS15 (Q902E)	Single nucleotide variant (missense variant)	TMPRSS15-related condition +1 more	GBenign/Likely benign
Select item 1941449	NM_002772.3(TMPRSS15):c.2694G>A (p.Pro898=)	TMPRSS15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2127166	NM_002772.3(TMPRSS15):c.2688T>C (p.Cys896=)	TMPRSS15	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2145148	NM_002772.3(TMPRSS15):c.2677C>G (p.Gln893Glu)	TMPRSS15 (Q893E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1972682	NM_002772.3(TMPRSS15):c.2669-11T>A	TMPRSS15	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2101426	NM_002772.3(TMPRSS15):c.2669-13C>G	TMPRSS15	Single nucleotide variant (intron variant)	not provided	GLikely benign

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