6201[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155714	GRCh38/hg38 2p25.3(chr2:12770-4318861)x3	SNTG2-AS1, TMEM18 +104 more	Copy number gain	See cases	GUncertain significance
Select item 153520	GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3	ATAD2B, ATP6V1C2 +653 more	Copy number gain	See cases	GPathogenic
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	ABHD1, ACP1 +1047 more	Copy number gain	See cases	GPathogenic
Select item 152693	GRCh38/hg38 2p25.3-24.1(chr2:17019-20001056)x3	ACP1, ADAM17 +498 more	Copy number gain	See cases	GPathogenic
Select item 152440	GRCh38/hg38 2p25.3-25.2(chr2:17019-4957745)x3	ACP1, ADI1 +108 more	Copy number gain	See cases	GLikely pathogenic
Select item 148269	GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3	LOC129933312, LOC129933313 +736 more	Copy number gain	See cases	GPathogenic
Select item 154668	GRCh38/hg38 2p25.3-25.2(chr2:30341-4642399)x3	ACP1, ADI1 +107 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	C2orf48, C2orf50 +893 more	Copy number gain	See cases	GPathogenic
Select item 144454	GRCh38/hg38 2p25.3-25.2(chr2:30341-4932359)x3	ACP1, ADI1 +108 more	Copy number gain	See cases	GPathogenic
Select item 59131	GRCh38/hg38 2p25.3-24.3(chr2:30342-14866951)x3	ACP1, ADAM17 +413 more	Copy number gain	See cases	GPathogenic
Select item 59132	GRCh38/hg38 2p25.3-25.1(chr2:50661-9652907)x3	LOC126806115, LOC126806116 +237 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	ABCG5, ABCG8 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	ABCG5, ABCG8 +1400 more	Copy number gain	See cases	GPathogenic
Select item 148848	GRCh38/hg38 2p25.3-24.1(chr2:1664615-23664142)x3	ADAM17, ADI1 +546 more	Copy number gain	See cases	GPathogenic
Select item 58810	GRCh38/hg38 2p25.3(chr2:2542162-3678127)x3	ADI1, ALLC +44 more	Copy number gain	See cases	GUncertain significance
Select item 149319	GRCh38/hg38 2p25.3-25.2(chr2:2797196-4697562)x3	ADI1, ALLC +55 more	Copy number gain	See cases	GUncertain significance
Select item 58836	GRCh38/hg38 2p25.3(chr2:3293776-3858635)x3	ADI1, ALLC +29 more	Copy number gain	See cases	GUncertain significance
Select item 145551	GRCh38/hg38 2p25.3(chr2:3522147-3849658)x3	ALLC, COLEC11 +18 more	Copy number gain	See cases	GUncertain significance
Select item 1280380	NC_000002.12:g.3575072G>T	RPS7	Single nucleotide variant	not provided	GBenign
Select item 369341	NM_001011.4(RPS7):c.-109C>T	RPS7	Single nucleotide variant (5 prime UTR variant)	Diamond-Blackfan anemia	GLikely benign
Select item 335893	NM_001011.4(RPS7):c.-104G>A	RPS7	Single nucleotide variant (5 prime UTR variant)	Diamond-Blackfan anemia	GLikely benign
Select item 335894	NM_001011.4(RPS7):c.-86C>T	RPS7	Single nucleotide variant (5 prime UTR variant)	Diamond-Blackfan anemia 8	GUncertain significance
Select item 335895	NM_001011.4(RPS7):c.-47G>T	RPS7	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GBenign
Select item 335896	NM_001011.4(RPS7):c.-44C>T	RPS7	Single nucleotide variant (5 prime UTR variant)	Diamond-Blackfan anemia 8	GUncertain significance
Select item 335897	NM_001011.4(RPS7):c.-36A>C	RPS7	Single nucleotide variant (5 prime UTR variant)	Diamond-Blackfan anemia 8	GBenign
Select item 335898	NM_001011.4(RPS7):c.-27C>T	RPS7	Single nucleotide variant (5 prime UTR variant)	Diamond-Blackfan anemia 8	GUncertain significance
Select item 335899	NM_001011.4(RPS7):c.-23G>A	RPS7	Single nucleotide variant (5 prime UTR variant)	Diamond-Blackfan anemia 8	GUncertain significance
Select item 2689888	NM_001011.4(RPS7):c.-19G>C	RPS7	Single nucleotide variant (5 prime UTR variant)	Diamond-Blackfan anemia 8	GUncertain significance
Select item 2689887	NM_001011.4(RPS7):c.-19+1del	RPS7	Deletion (splice donor variant)	Diamond-Blackfan anemia 8	GUncertain significance
Select item 2697321	NM_001011.4(RPS7):c.-19+1G>T	RPS7	Single nucleotide variant (splice donor variant)	Diamond-Blackfan anemia 8	GPathogenic
Select item 975849	NM_001011.4(RPS7):c.-19+1G>A	RPS7	Single nucleotide variant (splice donor variant)	Diamond-Blackfan anemia 8	GLikely pathogenic
Select item 424204	NM_001011.4(RPS7):c.-19+1G>C	RPS7	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2761151	NM_001011.4(RPS7):c.-19+2T>A	RPS7	Single nucleotide variant (splice donor variant)	Diamond-Blackfan anemia 8	GPathogenic
Select item 335900	NM_001011.4(RPS7):c.-19+13C>T	RPS7	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 8	GBenign/Likely benign
Select item 335901	NM_001011.4(RPS7):c.-13C>T	RPS7	Single nucleotide variant (5 prime UTR variant)	Diamond-Blackfan anemia 8	GUncertain significance
Select item 1028444	NM_001011.4(RPS7):c.-3G>A	RPS7	Single nucleotide variant (5 prime UTR variant)	Diamond-Blackfan anemia 8	GUncertain significance
Select item 392905	NM_001011.4(RPS7):c.11C>T (p.Ser4Leu)	RPS7 (S4L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1485908	NM_001011.4(RPS7):c.14G>A (p.Ser5Asn)	RPS7 (S5N)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia 8	GUncertain significance
Select item 1960904	NM_001011.4(RPS7):c.24C>A (p.Ile8=)	RPS7	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia 8	GLikely benign
Select item 1936094	NM_001011.4(RPS7):c.24C>T (p.Ile8=)	RPS7	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia 8	GLikely benign
Select item 1368521	NM_001011.4(RPS7):c.31C>T (p.Pro11Ser)	RPS7 (P11S)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia 8	GUncertain significance
Select item 955608	NM_001011.4(RPS7):c.34A>C (p.Asn12His)	RPS7 (N12H)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia 8	GUncertain significance
Select item 998359	NM_001011.4(RPS7):c.35A>G (p.Asn12Ser)	RPS7 (N12S)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia 8	GUncertain significance
Select item 335902	NM_001011.4(RPS7):c.39C>T (p.Gly13=)	RPS7	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia +1 more	GConflicting classifications of pathogenicity
Select item 2807810	NM_001011.4(RPS7):c.49G>C (p.Asp17His)	RPS7 (D17H)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia 8	GUncertain significance
Select item 1622041	NM_001011.4(RPS7):c.63C>T (p.Ser21=)	RPS7	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia 8 +1 more	GLikely benign
Select item 2500885	NM_001011.4(RPS7):c.65_68del (p.Gly22fs)	RPS7 (G22fs)	Deletion (frameshift variant)	Diamond-Blackfan anemia 8	GLikely pathogenic
Select item 1753913	NM_001011.4(RPS7):c.65_75+2delinsCTGG	RPS7	Indel (splice donor variant)	Diamond-Blackfan anemia	GPathogenic
Select item 1490897	NM_001011.4(RPS7):c.66C>T (p.Gly22=)	RPS7	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia 8 +2 more	GConflicting classifications of pathogenicity
Select item 3232357	NM_001011.4(RPS7):c.69C>T (p.Ile23=)	RPS7	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2054644	NM_001011.4(RPS7):c.72C>T (p.Ser24=)	RPS7	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia 8	GLikely benign
Select item 2780000	NM_001011.4(RPS7):c.75+1G>T	RPS7	Single nucleotide variant (splice donor variant)	Diamond-Blackfan anemia 8	GLikely pathogenic
Select item 1031721	NM_001011.4(RPS7):c.75+1G>A	RPS7	Single nucleotide variant (splice donor variant)	Diamond-Blackfan anemia 8	GPathogenic
Select item 2418553	NM_001011.4(RPS7):c.75+8G>T	RPS7	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 8	GLikely benign
Select item 335903	NM_001011.4(RPS7):c.75+13C>T	RPS7	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 8	GLikely benign
Select item 1638995	NM_001011.4(RPS7):c.76-16G>A	RPS7	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 8	GLikely benign
Select item 2813930	NM_001011.4(RPS7):c.76-13C>G	RPS7	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 8	GLikely benign
Select item 2073118	NM_001011.4(RPS7):c.76-13C>T	RPS7	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 8	GLikely benign
Select item 1998328	NM_001011.4(RPS7):c.76-12G>A	RPS7	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 8	GLikely benign
Select item 1589683	NM_001011.4(RPS7):c.76-12G>C	RPS7	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 8	GLikely benign
Select item 2891814	NM_001011.4(RPS7):c.76-8C>G	RPS7	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 8	GLikely benign
Select item 3036851	NM_001011.4(RPS7):c.76-4T>C	RPS7	Single nucleotide variant (intron variant)	RPS7-related disorder	GLikely benign
Select item 1305849	NM_001011.4(RPS7):c.76-3T>G	RPS7	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 372193	NM_001011.4(RPS7):c.76-1G>T	RPS7	Single nucleotide variant (splice acceptor variant)	Diamond-Blackfan anemia 8	GPathogenic
Select item 1401513	NM_001011.4(RPS7):c.77C>T (p.Ala26Val)	RPS7 (A26V)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia 8	GUncertain significance
Select item 2038414	NM_001011.4(RPS7):c.79C>A (p.Leu27Ile)	RPS7 (L27I)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia 8	GConflicting classifications of pathogenicity
Select item 1383790	NM_001011.4(RPS7):c.79C>T (p.Leu27Phe)	RPS7 (L27F)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia 8	GUncertain significance
Select item 2796669	NM_001011.4(RPS7):c.81T>A (p.Leu27=)	RPS7	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia 8	GLikely benign
Select item 2741902	NM_001011.4(RPS7):c.82C>T (p.Leu28=)	RPS7	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia 8	GLikely benign
Select item 699833	NM_001011.4(RPS7):c.99C>T (p.Asn33=)	RPS7	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia 8	GBenign
Select item 701730	NM_001011.4(RPS7):c.102G>A (p.Ser34=)	RPS7	Single nucleotide variant (synonymous variant)	RPS7-related disorder +2 more	GLikely benign
Select item 2185660	NM_001011.4(RPS7):c.105C>T (p.Asp35=)	RPS7	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia 8	GLikely benign
Select item 1037436	NM_001011.4(RPS7):c.113C>T (p.Ala38Val)	RPS7 (A38V)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia 8	GUncertain significance
Select item 2201330	NM_001011.4(RPS7):c.118C>G (p.Leu40Val)	RPS7 (L40V)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia 8	GUncertain significance
Select item 1945012	NM_001011.4(RPS7):c.118C>T (p.Leu40Phe)	RPS7 (L40F)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia 8	GUncertain significance
Select item 2803451	NM_001011.4(RPS7):c.120C>A (p.Leu40=)	RPS7	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia 8	GLikely benign
Select item 1635924	NM_001011.4(RPS7):c.126G>A (p.Glu42=)	RPS7	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia 8	GLikely benign
Select item 1975094	NM_001011.4(RPS7):c.129G>A (p.Leu43=)	RPS7	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia 8	GLikely benign
Select item 962784	NM_001011.4(RPS7):c.133A>G (p.Ile45Val)	RPS7 (I45V)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia 8	GUncertain significance
Select item 942955	NM_001011.4(RPS7):c.137C>T (p.Thr46Met)	RPS7 (T46M)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia 8	GUncertain significance
Select item 2916645	NM_001011.4(RPS7):c.142G>T (p.Ala48Ser)	RPS7 (A48S)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia 8	GUncertain significance
Select item 6150	NM_001011.4(RPS7):c.147+1G>A	RPS7	Single nucleotide variant (splice donor variant)	Diamond-Blackfan anemia 8	GPathogenic
Select item 2105114	NM_001011.4(RPS7):c.147+5G>C	RPS7	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 8	GUncertain significance
Select item 1447728	NM_001011.4(RPS7):c.147+6C>T	RPS7	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 8	GUncertain significance
Select item 2418407	NM_001011.4(RPS7):c.147+7T>C	RPS7	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 8	GLikely benign
Select item 1157487	NM_001011.4(RPS7):c.147+8G>A	RPS7	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 8	GLikely benign
Select item 2744986	NM_001011.4(RPS7):c.147+14C>A	RPS7	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 8	GLikely benign
Select item 2992184	NM_001011.4(RPS7):c.147+15C>T	RPS7	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 8	GLikely benign
Select item 1554684	NM_001011.4(RPS7):c.147+16C>T	RPS7	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 8	GLikely benign
Select item 1292993	NM_001011.4(RPS7):c.147+62A>G	RPS7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268275	NM_001011.4(RPS7):c.147+63G>A	RPS7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292681	NM_001011.4(RPS7):c.147+77G>C	RPS7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219636	NM_001011.4(RPS7):c.147+142T>A	RPS7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1293003	NM_001011.4(RPS7):c.148-194C>T	RPS7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220591	NM_001011.4(RPS7):c.148-138T>C	RPS7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 212072	NM_001011.4(RPS7):c.148-79G>A	RPS7	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1266123	NM_001011.4(RPS7):c.148-26C>A	RPS7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2194951	NM_001011.4(RPS7):c.148-20A>C	RPS7	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 8	GLikely benign
Select item 2183904	NM_001011.4(RPS7):c.148-20A>G	RPS7	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 8	GLikely benign
Select item 2758362	NM_001011.4(RPS7):c.148-19T>A	RPS7	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 8	GLikely benign

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