1834[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 155391	GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	LOC129992695, LOC129992696 +533 more	Copy number gain	See cases	GPathogenic
Select item 2579270	GRCh38/hg38 4q21.21-23(chr4:79123548-99457773)x1	ABCG2, ABRAXAS1 +338 more	Copy number loss	Chromosome 4q21 deletion syndrome	GPathogenic
Select item 59455	GRCh38/hg38 4q21.21-22.1(chr4:79575748-92412449)x1	ABCG2, ABRAXAS1 +251 more	Copy number loss	See cases	GPathogenic
Select item 148194	GRCh38/hg38 4q21.21-24(chr4:80427023-100855441)x1	ABCG2, ABRAXAS1 +335 more	Copy number loss	See cases	GPathogenic
Select item 145649	GRCh38/hg38 4q21.21-22.3(chr4:80879777-94809447)x1	ABCG2, ABRAXAS1 +244 more	Copy number loss	See cases	GPathogenic
Select item 147434	GRCh38/hg38 4q21.23-22.1(chr4:84329551-87679204)x1	AFF1, AFF1-AS1 +62 more	Copy number loss	See cases	GPathogenic
Select item 152923	GRCh38/hg38 4q21.23-22.2(chr4:85449365-93973194)x1	ABCG2, AFF1 +126 more	Copy number loss	See cases	GPathogenic
Select item 144779	GRCh38/hg38 4q21.3-22.1(chr4:87067415-88158276)x3	ABCG2, AFF1 +32 more	Copy number gain	See cases	GUncertain significance
Select item 1196544	NM_014208.3(DSPP):c.-28-236T>C	DSPP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1179349	NM_014208.3(DSPP):c.-28-233C>T	DSPP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1205564	NM_014208.3(DSPP):c.-28-227C>T	DSPP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1250207	NM_014208.3(DSPP):c.-28-166C>T	DSPP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191255	NM_014208.3(DSPP):c.-28-132C>T	DSPP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 523506	NM_014208.3(DSPP):c.-21T>C	DSPP	Single nucleotide variant	Hearing impairment	GUncertain significance
Select item 1314005	NM_014208.3(DSPP):c.4A>G (p.Lys2Glu)	DSPP (K2E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2085267	NM_014208.3(DSPP):c.10A>C (p.Ile4Leu)	DSPP (I4L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 16857	NM_014208.3(DSPP):c.16T>G (p.Tyr6Asp)	DSPP (Y6D)	Single nucleotide variant (missense variant)	Denticles	GPathogenic
Select item 1314764	NM_014208.3(DSPP):c.19T>G (p.Phe7Val)	DSPP (F7V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1372943	NM_014208.3(DSPP):c.37G>C (p.Ala13Pro)	DSPP (A13P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 16859	NM_014208.3(DSPP):c.44C>T (p.Ala15Val)	DSPP (A15V)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1458861	NM_014208.3(DSPP):c.49C>T (p.Pro17Ser)	DSPP (P17S)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 16855	NM_014208.3(DSPP):c.49C>A (p.Pro17Thr)	DSPP (P17T)	Single nucleotide variant (missense variant)	Deafness, autosomal dominant nonsyndromic sensorineural 39, with dentinogenesis imperfecta 1	GPathogenic
Select item 2734658	NM_014208.3(DSPP):c.50C>T (p.Pro17Leu)	DSPP (P17L)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1289383	NM_014208.3(DSPP):c.51+72GT[21]	DSPP	Microsatellite (intron variant)	not provided	GBenign
Select item 1285915	NM_014208.3(DSPP):c.51+72GT[18]	DSPP	Microsatellite (intron variant)	not provided	GBenign
Select item 1276925	NM_014208.3(DSPP):c.51+72GT[19]	DSPP	Microsatellite (intron variant)	not provided	GBenign
Select item 1269186	NM_014208.3(DSPP):c.51+72GT[17]	DSPP	Microsatellite (intron variant)	not provided	GBenign
Select item 1219816	NM_014208.3(DSPP):c.51+71_51+78del	DSPP	Deletion (intron variant)	not provided	GLikely benign
Select item 1298011	NM_014208.3(DSPP):c.51+72GT[14]	DSPP	Microsatellite (intron variant)	not provided	GBenign
Select item 1281125	NM_014208.3(DSPP):c.51+72GT[15]	DSPP	Microsatellite (intron variant)	not provided	GBenign
Select item 1197925	NM_014208.3(DSPP):c.51+141T>C	DSPP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1201605	NM_014208.3(DSPP):c.52-205C>T	DSPP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1244325	NM_014208.3(DSPP):c.52-93TG[16]	DSPP	Microsatellite (intron variant)	not provided	GBenign
Select item 1272159	NM_014208.3(DSPP):c.52-93TG[14]	DSPP	Microsatellite (intron variant)	not provided	GBenign
Select item 1270839	NM_014208.3(DSPP):c.52-93TG[12]	DSPP	Microsatellite (intron variant)	not provided	GBenign
Select item 1251915	NM_014208.3(DSPP):c.52-93TG[13]	DSPP	Microsatellite (intron variant)	not provided	GBenign
Select item 1235086	NM_014208.3(DSPP):c.52-93TG[11]	DSPP	Microsatellite (intron variant)	not provided	GBenign
Select item 2804526	NM_014208.3(DSPP):c.52-13T>C	DSPP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3033858	NM_014208.3(DSPP):c.52-8C>T	DSPP	Single nucleotide variant (intron variant)	DSPP-related disorder	GLikely benign
Select item 1343806	NM_014208.3(DSPP):c.52-2del	DSPP	Deletion (splice acceptor variant)	Dentinogenesis imperfecta	GPathogenic
Select item 1299789	NM_014208.3(DSPP):c.52-2A>G	DSPP	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 2128005	NC_000004.12:g.87612105del	DSPP	Deletion	not provided	GUncertain significance
Select item 384505	NM_014208.3(DSPP):c.52-1G>C	DSPP	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 16856	NM_014208.3(DSPP):c.52G>T (p.Val18Phe)	DSPP (V18F)	Single nucleotide variant (missense variant)	Dentinogenesis imperfecta type 3 +2 more	GPathogenic
Select item 2811455	NM_014208.3(DSPP):c.53T>C (p.Val18Ala)	DSPP (V18A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1320199	NM_014208.3(DSPP):c.53T>A (p.Val18Asp)	DSPP (V18D)	Single nucleotide variant (missense variant)	Dentinogenesis imperfecta type 2	GLikely pathogenic
Select item 996079	NM_014208.3(DSPP):c.53T>G (p.Val18Gly)	DSPP (V18G)	Single nucleotide variant (missense variant)	Dentinogenesis imperfecta type 2	GPathogenic
Select item 3031766	NM_014208.3(DSPP):c.72G>A (p.Leu24=)	DSPP	Single nucleotide variant (synonymous variant)	DSPP-related disorder	GLikely benign
Select item 1612746	NM_014208.3(DSPP):c.85G>A (p.Glu29Lys)	DSPP (E29K)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1571794	NM_014208.3(DSPP):c.108C>T (p.Leu36=)	DSPP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1711934	NM_014208.3(DSPP):c.113C>A (p.Ala38Glu)	DSPP (A38E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1430198	NM_014208.3(DSPP):c.115del (p.Arg39fs)	DSPP (R39fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2980864	NM_014208.3(DSPP):c.118T>C (p.Ser40Pro)	DSPP (S40P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 16853	NM_014208.3(DSPP):c.133C>T (p.Gln45Ter)	DSPP (Q45*)	Single nucleotide variant (nonsense)	Dentinogenesis imperfecta type 2	GPathogenic
Select item 1343808	NM_014208.3(DSPP):c.135G>A (p.Gln45=)	DSPP	Single nucleotide variant (synonymous variant)	Dentinogenesis imperfecta	GPathogenic
Select item 1343807	NM_014208.3(DSPP):c.135+1G>C	DSPP	Single nucleotide variant (splice donor variant)	Dentinogenesis imperfecta	GPathogenic
Select item 16854	NM_014208.3(DSPP):c.135+1G>A	DSPP	Single nucleotide variant (splice donor variant)	DSPP-related disorder +1 more	GPathogenic
Select item 260356	NM_014208.3(DSPP):c.136-33T>C	DSPP	Single nucleotide variant	not specified +5 more	GBenign
Select item 260355	NM_014208.3(DSPP):c.136-29T>C	DSPP	Single nucleotide variant	not specified +1 more	GBenign
Select item 2571632	NM_014208.3(DSPP):c.139G>A (p.Glu47Lys)	DSPP (E47K)	Single nucleotide variant (missense variant)	Dentinogenesis imperfecta type 2	GUncertain significance
Select item 741906	NM_014208.3(DSPP):c.144A>G (p.Leu48=)	DSPP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1194811	NM_014208.3(DSPP):c.148G>C (p.Ala50Pro)	DSPP (A50P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2722872	NM_014208.3(DSPP):c.153T>C (p.Ser51=)	DSPP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 715999	NM_014208.3(DSPP):c.180G>T (p.Leu60=)	DSPP	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 593187	NM_014208.3(DSPP):c.197G>A (p.Arg66Lys)	DSPP (R66K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576835	NM_014208.3(DSPP):c.199G>A (p.Gly67Arg)	DSPP (G67R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 16858	NM_014208.3(DSPP):c.202A>T (p.Arg68Trp)	DSPP (R68W)	Single nucleotide variant (missense variant)	Dentinogenesis imperfecta type 2 +2 more	GBenign/Likely benign
Select item 1800976	NM_014208.3(DSPP):c.211A>T (p.Asn71Tyr)	DSPP (N71Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 287643	NM_014208.3(DSPP):c.214A>G (p.Thr72Ala)	DSPP (T72A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1474409	NM_014208.3(DSPP):c.264_265delinsTC (p.Gly89Arg)	DSPP (G89R)	Indel (missense variant)	not provided	GUncertain significance
Select item 1369970	NM_014208.3(DSPP):c.268G>A (p.Gly90Arg)	DSPP (G90R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1378095	NM_014208.3(DSPP):c.279T>G (p.Phe93Leu)	DSPP (F93L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 260357	NM_014208.3(DSPP):c.303C>T (p.Asn101=)	DSPP	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1254181	NM_014208.3(DSPP):c.304G>A (p.Glu102Lys)	DSPP (E102K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2800110	NM_014208.3(DSPP):c.338C>T (p.Thr113Ile)	DSPP (T113I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2635882	NM_014208.3(DSPP):c.353C>T (p.Thr118Ile)	DSPP (T118I)	Single nucleotide variant (missense variant)	DSPP-related disorder	GUncertain significance
Select item 710263	NM_014208.3(DSPP):c.363T>C (p.His121=)	DSPP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 834048	NM_014208.3(DSPP):c.368_371delinsAACATATGTTCATCATGGGAAAGAAGAAA (p.Gly123fs)	DSPP (G123fs)	Indel (frameshift variant)	Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 +1 more	GConflicting classifications of pathogenicity
Select item 740777	NM_014208.3(DSPP):c.368G>C (p.Gly123Ala)	DSPP (G123A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3273931	NM_014208.3(DSPP):c.371T>A (p.Ile124Lys)	DSPP (I124K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2852975	NM_014208.3(DSPP):c.382G>T (p.Glu128Ter)	DSPP (E128*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 787807	NM_014208.3(DSPP):c.392T>C (p.Ile131Thr)	DSPP (I131T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2442765	NM_014208.3(DSPP):c.398C>A (p.Ala133Glu)	DSPP (A133E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 760963	NM_014208.3(DSPP):c.412G>A (p.Gly138Arg)	DSPP (G138R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2212650	NM_014208.3(DSPP):c.428T>C (p.Ile143Thr)	DSPP (I143T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285939	NM_014208.3(DSPP):c.433A>G (p.Asn145Asp)	DSPP (N145D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 740806	NM_014208.3(DSPP):c.477T>C (p.Asp159=)	DSPP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2860298	NM_014208.3(DSPP):c.483T>C (p.Asn161=)	DSPP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2049533	NM_014208.3(DSPP):c.492T>C (p.Asn164=)	DSPP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1517297	NM_014208.3(DSPP):c.493G>A (p.Gly165Arg)	DSPP (G165R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1381206	NM_014208.3(DSPP):c.500T>A (p.Val167Asp)	DSPP (V167D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1370654	NM_014208.3(DSPP):c.504C>T (p.Gly168=)	DSPP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1806686	NM_014208.3(DSPP):c.505G>A (p.Asp169Asn)	DSPP (D169N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3086026	NM_014208.3(DSPP):c.512G>A (p.Gly171Asp)	DSPP (G171D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1706187	NM_014208.3(DSPP):c.512G>T (p.Gly171Val)	DSPP (G171V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1463304	NM_014208.3(DSPP):c.527T>A (p.Val176Asp)	DSPP (V176D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2416306	NM_014208.3(DSPP):c.528C>T (p.Val176=)	DSPP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2883023	NM_014208.3(DSPP):c.529G>A (p.Ala177Thr)	DSPP (A177T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1712815	NM_014208.3(DSPP):c.584A>G (p.Asn195Ser)	DSPP (N195S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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