129563[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	ABCA12, ABCB6 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC126806461, LOC126806467 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	OR6B3, OTOS +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	AAMP, ABCB6 +986 more	Copy number gain	See cases	GPathogenic
Select item 58847	GRCh38/hg38 2q36.3-37.3(chr2:226978129-236886599)x1	ACKR3, AGAP1 +393 more	Copy number loss	See cases	GPathogenic
Select item 58848	GRCh38/hg38 2q36.3-37.2(chr2:227343278-235339168)x1	LOC122861320, LOC122889004 +347 more	Copy number loss	See cases	GPathogenic
Select item 59173	GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3	ACKR3, AGAP1 +630 more	Copy number gain	See cases	GPathogenic
Select item 147843	GRCh38/hg38 2q36.3-37.2(chr2:228014149-234976424)x3	ALPG, ALPI +309 more	Copy number gain	See cases	GPathogenic
Select item 144756	GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3	LOC132088830, LOC132088831 +576 more	Copy number gain	See cases	GPathogenic
Select item 161051	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	UGT1A6, UGT1A7 +455 more	Copy number loss	See cases	GPathogenic
Select item 34724	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	ACKR3, AGAP1 +455 more	Copy number loss	See cases	GPathogenic
Select item 144230	GRCh38/hg38 2q37.1(chr2:231892041-232652305)x1	ALPG, ALPI +38 more	Copy number loss	See cases	GPathogenic
Select item 334921	NM_152383.4(DIS3L2):c.-250C>G	DIS3L2, LOC129935854	Single nucleotide variant	Perlman syndrome	GUncertain significance
Select item 334922	NM_152383.4(DIS3L2):c.-229C>T	DIS3L2, LOC129935854	Single nucleotide variant	Perlman syndrome	GUncertain significance
Select item 898491	NM_152383.5(DIS3L2):c.-143C>G	DIS3L2	Single nucleotide variant (5 prime UTR variant +1 more)	Perlman syndrome	GUncertain significance
Select item 334923	NM_152383.5(DIS3L2):c.-142T>A	DIS3L2	Single nucleotide variant (5 prime UTR variant +1 more)	Perlman syndrome	GUncertain significance
Select item 334924	NM_152383.5(DIS3L2):c.-102G>A	DIS3L2	Single nucleotide variant (5 prime UTR variant +1 more)	Perlman syndrome	GUncertain significance
Select item 895499	NM_152383.5(DIS3L2):c.-95C>T	DIS3L2	Single nucleotide variant (5 prime UTR variant +1 more)	Perlman syndrome	GUncertain significance
Select item 895500	NM_152383.5(DIS3L2):c.-78C>T	DIS3L2	Single nucleotide variant (5 prime UTR variant +1 more)	Perlman syndrome	GLikely benign
Select item 334925	NM_152383.5(DIS3L2):c.-67G>A	DIS3L2	Single nucleotide variant (5 prime UTR variant +1 more)	Perlman syndrome	GUncertain significance
Select item 334926	NM_152383.5(DIS3L2):c.-58_-54del	DIS3L2	Deletion (5 prime UTR variant +1 more)	Perlman syndrome	GUncertain significance
Select item 334927	NM_152383.5(DIS3L2):c.-52A>G	DIS3L2	Single nucleotide variant (5 prime UTR variant +1 more)	Perlman syndrome	GUncertain significance
Select item 1363990	NM_152383.5(DIS3L2):c.1A>G (p.Met1Val)	DIS3L2 (M1V)	Single nucleotide variant (missense variant +2 more)	Perlman syndrome	GUncertain significance
Select item 647935	NM_152383.5(DIS3L2):c.1A>T (p.Met1Leu)	DIS3L2 (M1L)	Single nucleotide variant (missense variant +2 more)	Perlman syndrome +1 more	GUncertain significance
Select item 2030930	NM_152383.5(DIS3L2):c.9T>C (p.His3=)	DIS3L2	Single nucleotide variant (synonymous variant +1 more)	Perlman syndrome	GLikely benign
Select item 943662	NM_152383.5(DIS3L2):c.10C>A (p.Pro4Thr)	DIS3L2 (P4T)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome	GUncertain significance
Select item 1436517	NM_152383.5(DIS3L2):c.11C>T (p.Pro4Leu)	DIS3L2 (P4L)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome	GUncertain significance
Select item 1047561	NM_152383.5(DIS3L2):c.11C>G (p.Pro4Arg)	DIS3L2 (P4R)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome	GUncertain significance
Select item 2849431	NM_152383.5(DIS3L2):c.14A>G (p.Asp5Gly)	DIS3L2 (D5G)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome	GUncertain significance
Select item 861011	NM_152383.5(DIS3L2):c.17A>G (p.Tyr6Cys)	DIS3L2 (Y6C)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome	GUncertain significance
Select item 1504029	NM_152383.5(DIS3L2):c.19A>G (p.Arg7Gly)	DIS3L2 (R7G)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome	GUncertain significance
Select item 2158114	NM_152383.5(DIS3L2):c.20G>C (p.Arg7Thr)	DIS3L2 (R7T)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome	GUncertain significance
Select item 2159968	NM_152383.5(DIS3L2):c.23T>G (p.Met8Arg)	DIS3L2 (M8R)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome	GUncertain significance
Select item 1589511	NM_152383.5(DIS3L2):c.27C>T (p.Asn9=)	DIS3L2	Single nucleotide variant (synonymous variant +1 more)	Perlman syndrome	GLikely benign
Select item 1007495	NM_152383.5(DIS3L2):c.28C>T (p.Leu10Phe)	DIS3L2 (L10F)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome	GUncertain significance
Select item 1159231	NM_152383.5(DIS3L2):c.30C>T (p.Leu10=)	DIS3L2	Single nucleotide variant (synonymous variant +1 more)	Perlman syndrome	GLikely benign
Select item 2896677	NM_152383.5(DIS3L2):c.31C>A (p.Arg11=)	DIS3L2	Single nucleotide variant (synonymous variant +1 more)	Perlman syndrome	GLikely benign
Select item 582964	NM_152383.5(DIS3L2):c.31C>T (p.Arg11Trp)	DIS3L2 (R11W)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome	GUncertain significance
Select item 654011	NM_152383.5(DIS3L2):c.32G>A (p.Arg11Gln)	DIS3L2 (R11Q)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome	GUncertain significance
Select item 2201857	NM_152383.5(DIS3L2):c.33G>A (p.Arg11=)	DIS3L2	Single nucleotide variant (synonymous variant +1 more)	Perlman syndrome	GLikely benign
Select item 577913	NM_152383.5(DIS3L2):c.33_34delinsAA (p.Pro12Thr)	DIS3L2 (P12T)	Indel (missense variant +1 more)	Perlman syndrome	GUncertain significance
Select item 1005857	NM_152383.5(DIS3L2):c.34C>A (p.Pro12Thr)	DIS3L2 (P12T)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome	GUncertain significance
Select item 334928	NM_152383.5(DIS3L2):c.34C>T (p.Pro12Ser)	DIS3L2 (P12S)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome +1 more	GBenign
Select item 1997594	NM_152383.5(DIS3L2):c.36C>T (p.Pro12=)	DIS3L2	Single nucleotide variant (synonymous variant +1 more)	Perlman syndrome	GLikely benign
Select item 1123803	NM_152383.5(DIS3L2):c.36C>G (p.Pro12=)	DIS3L2	Single nucleotide variant (synonymous variant +1 more)	Perlman syndrome	GLikely benign
Select item 1448323	NM_152383.5(DIS3L2):c.37C>G (p.Leu13Val)	DIS3L2 (L13V)	Single nucleotide variant (non-coding transcript variant +1 more)	Perlman syndrome	GUncertain significance
Select item 1056994	NM_152383.5(DIS3L2):c.37C>A (p.Leu13Met)	DIS3L2 (L13M)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome	GUncertain significance
Select item 1141590	NM_152383.5(DIS3L2):c.42G>A (p.Gly14=)	DIS3L2	Single nucleotide variant (synonymous variant +1 more)	Perlman syndrome	GLikely benign
Select item 575993	NM_152383.5(DIS3L2):c.43A>G (p.Thr15Ala)	DIS3L2 (T15A)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome	GUncertain significance
Select item 1950740	NM_152383.5(DIS3L2):c.44C>A (p.Thr15Asn)	DIS3L2 (T15N)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome	GUncertain significance
Select item 1362691	NM_152383.5(DIS3L2):c.48del (p.Arg17fs)	DIS3L2 (R17fs)	Deletion (frameshift variant +1 more)	Perlman syndrome	GPathogenic/Likely pathogenic
Select item 2813044	NM_152383.5(DIS3L2):c.46C>G (p.Pro16Ala)	DIS3L2 (P16A)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome	GUncertain significance
Select item 957315	NM_152383.5(DIS3L2):c.46C>A (p.Pro16Thr)	DIS3L2 (P16T)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome	GUncertain significance
Select item 895501	NM_152383.5(DIS3L2):c.47C>A (p.Pro16His)	DIS3L2 (P16H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 839169	NM_152383.5(DIS3L2):c.47C>G (p.Pro16Arg)	DIS3L2 (P16R)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome	GUncertain significance
Select item 651418	NM_152383.5(DIS3L2):c.49A>G (p.Arg17Gly)	DIS3L2 (R17G)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome	GUncertain significance
Select item 847401	NM_152383.5(DIS3L2):c.52G>A (p.Gly18Ser)	DIS3L2 (G18S)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome	GUncertain significance
Select item 1010938	NM_152383.5(DIS3L2):c.52+3A>G	DIS3L2	Single nucleotide variant (intron variant)	Perlman syndrome	GUncertain significance
Select item 1169535	NM_152383.5(DIS3L2):c.52+9del	DIS3L2	Deletion (intron variant)	Perlman syndrome	GBenign
Select item 2093666	NM_152383.5(DIS3L2):c.52+7A>G	DIS3L2	Single nucleotide variant (intron variant)	Perlman syndrome	GLikely benign
Select item 1549460	NM_152383.5(DIS3L2):c.52+10G>T	DIS3L2	Single nucleotide variant (intron variant)	Perlman syndrome	GLikely benign
Select item 2064957	NM_152383.5(DIS3L2):c.52+16T>C	DIS3L2	Single nucleotide variant (intron variant)	Perlman syndrome	GLikely benign
Select item 1609003	NM_152383.5(DIS3L2):c.52+17G>A	DIS3L2	Single nucleotide variant (intron variant)	Perlman syndrome	GLikely benign
Select item 1621136	NM_152383.5(DIS3L2):c.53-20T>C	DIS3L2	Single nucleotide variant (intron variant)	Perlman syndrome	GLikely benign
Select item 1641397	NM_152383.5(DIS3L2):c.53-19T>C	DIS3L2	Single nucleotide variant (intron variant)	Perlman syndrome	GLikely benign
Select item 2727452	NM_152383.5(DIS3L2):c.53-17C>T	DIS3L2	Single nucleotide variant (intron variant)	Perlman syndrome	GLikely benign
Select item 1989252	NM_152383.5(DIS3L2):c.53-16T>G	DIS3L2	Single nucleotide variant (intron variant)	Perlman syndrome	GLikely benign
Select item 1534076	NM_152383.5(DIS3L2):c.53-16T>C	DIS3L2	Single nucleotide variant (intron variant)	Perlman syndrome	GLikely benign
Select item 1620088	NM_152383.5(DIS3L2):c.53-15G>A	DIS3L2	Single nucleotide variant (intron variant)	Perlman syndrome	GLikely benign
Select item 1587998	NM_152383.5(DIS3L2):c.53-13C>G	DIS3L2	Single nucleotide variant (intron variant)	Perlman syndrome	GLikely benign
Select item 2048864	NM_152383.5(DIS3L2):c.53-11C>T	DIS3L2	Single nucleotide variant (intron variant)	Perlman syndrome	GLikely benign
Select item 1089585	NM_152383.5(DIS3L2):c.53-9T>C	DIS3L2	Single nucleotide variant (intron variant)	Perlman syndrome	GLikely benign
Select item 2769041	NM_152383.5(DIS3L2):c.53-5T>G	DIS3L2	Single nucleotide variant (intron variant)	Perlman syndrome	GLikely benign
Select item 1127782	NM_152383.5(DIS3L2):c.53-4C>A	DIS3L2	Single nucleotide variant (intron variant)	Perlman syndrome	GLikely benign
Select item 1333539	NM_152383.5(DIS3L2):c.53del (p.Gly18fs)	DIS3L2 (G18fs)	Deletion (frameshift variant +2 more)	Perlman syndrome	GLikely pathogenic
Select item 2729846	NM_152383.5(DIS3L2):c.53G>A (p.Gly18Asp)	DIS3L2 (G18D)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome	GUncertain significance
Select item 2018517	NM_152383.5(DIS3L2):c.54T>A (p.Gly18=)	DIS3L2	Single nucleotide variant (synonymous variant +1 more)	Perlman syndrome	GUncertain significance
Select item 2911996	NM_152383.5(DIS3L2):c.55G>A (p.Val19Met)	DIS3L2 (V19M)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome	GUncertain significance
Select item 1004715	NM_152383.5(DIS3L2):c.56T>G (p.Val19Gly)	DIS3L2 (V19G)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome	GUncertain significance
Select item 1368975	NM_152383.5(DIS3L2):c.58T>C (p.Ser20Pro)	DIS3L2 (S20P)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome	GUncertain significance
Select item 1020518	NM_152383.5(DIS3L2):c.59C>G (p.Ser20Cys)	DIS3L2 (S20C)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome	GUncertain significance
Select item 1721370	NM_152383.5(DIS3L2):c.62C>T (p.Ala21Val)	DIS3L2 (A21V)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome	GUncertain significance
Select item 1092230	NM_152383.5(DIS3L2):c.63T>G (p.Ala21=)	DIS3L2	Single nucleotide variant (synonymous variant +1 more)	Perlman syndrome	GLikely benign
Select item 463124	NM_152383.5(DIS3L2):c.64G>C (p.Val22Leu)	DIS3L2 (V22L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2727443	NM_152383.5(DIS3L2):c.66G>A (p.Val22=)	DIS3L2	Single nucleotide variant (synonymous variant +1 more)	Perlman syndrome	GLikely benign
Select item 1935746	NM_152383.5(DIS3L2):c.67G>T (p.Ala23Ser)	DIS3L2 (A23S)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome	GUncertain significance
Select item 934460	NM_152383.5(DIS3L2):c.67G>A (p.Ala23Thr)	DIS3L2 (A23T)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome	GUncertain significance
Select item 410727	NM_152383.5(DIS3L2):c.67G>C (p.Ala23Pro)	DIS3L2 (A23P)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome +1 more	GUncertain significance
Select item 1485286	NM_152383.5(DIS3L2):c.68C>G (p.Ala23Gly)	DIS3L2 (A23G)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome	GUncertain significance
Select item 2911816	NM_152383.5(DIS3L2):c.71G>C (p.Gly24Ala)	DIS3L2 (G24A)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome	GUncertain significance
Select item 701707	NM_152383.5(DIS3L2):c.72T>G (p.Gly24=)	DIS3L2	Single nucleotide variant (synonymous variant +1 more)	Perlman syndrome	GLikely benign
Select item 1005520	NM_152383.5(DIS3L2):c.74C>G (p.Pro25Arg)	DIS3L2 (P25R)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome	GUncertain significance
Select item 463130	NM_152383.5(DIS3L2):c.79G>C (p.Asp27His)	DIS3L2 (D27H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1010847	NM_152383.5(DIS3L2):c.80A>G (p.Asp27Gly)	DIS3L2 (D27G)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome	GUncertain significance
Select item 954866	NM_152383.5(DIS3L2):c.83T>C (p.Ile28Thr)	DIS3L2 (I28T)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome	GUncertain significance
Select item 1493947	NM_152383.5(DIS3L2):c.84T>G (p.Ile28Met)	DIS3L2 (I28M)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome	GUncertain significance
Select item 3000043	NM_152383.5(DIS3L2):c.85G>T (p.Gly29Cys)	DIS3L2 (G29C)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome	GUncertain significance
Select item 1380518	NM_152383.5(DIS3L2):c.86del (p.Gly29fs)	DIS3L2 (G29fs)	Deletion (frameshift variant +1 more)	Perlman syndrome	GPathogenic

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