ClinVar for Gene (Select 100132923) - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3025402	NM_201402.3(USP17L2):c.535G>A (p.Gly179Ser)	FAM66D, USP17L2 (G179S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2658430	NM_201402.3(USP17L2):c.18C>G (p.Leu6=)	FAM66D, USP17L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2658429	NM_201402.3(USP17L2):c.148G>A (p.Asp50Asn)	FAM66D, USP17L2 (D50N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2658428	NM_201402.3(USP17L2):c.291C>T (p.Cys97=)	FAM66D, USP17L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2658427	NM_201402.3(USP17L2):c.466G>T (p.Gly156Cys)	FAM66D, USP17L2 (G156C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2658426	NM_201402.3(USP17L2):c.863G>A (p.Gly288Asp)	FAM66D, USP17L2 (G288D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2658425	NM_201402.3(USP17L2):c.887A>T (p.Gln296Leu)	FAM66D, USP17L2 (Q296L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2658424	NM_201402.3(USP17L2):c.1087C>T (p.Leu363=)	FAM66D, USP17L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2658423	NM_201402.3(USP17L2):c.1498G>A (p.Val500Met)	FAM66D, USP17L2 (V500M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2658422	NM_001256869.2(USP17L7):c.33C>G (p.Asp11Glu)	FAM66D, USP17L7 (D11E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2658421	NM_001256869.2(USP17L7):c.139A>G (p.Thr47Ala)	FAM66D, USP17L7 (T47A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2658420	NM_001256869.2(USP17L7):c.145T>G (p.Phe49Val)	FAM66D, USP17L7 (F49V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2658419	NM_001256869.2(USP17L7):c.380C>T (p.Thr127Ile)	FAM66D, USP17L7 (T127I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2658418	NM_001256869.2(USP17L7):c.852C>T (p.Ser284=)	FAM66D, USP17L7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2579290	GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	LOC126860300, LOC126860301 +720 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 768228	NM_201402.3(USP17L2):c.786G>A (p.Pro262=)	FAM66D, USP17L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 161086	GRCh38/hg38 8p23.1(chr8:8222339-12182465)x1	BLK, C8orf74 +205 more	Copy number loss	See cases	GPathogenic
Select item 161037	GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1	ADAM28, ADAM7 +773 more	Copy number loss	See cases	GPathogenic
Select item 155181	GRCh38/hg38 8p23.3-23.1(chr8:226452-12698554)x3	LOC129999827, LOC129999828 +393 more	Copy number gain	See cases	GPathogenic
Select item 154989	GRCh38/hg38 8p23.1(chr8:11948252-12546557)x3	DEFB130A, DEFB130B +14 more	Copy number gain	See cases	GBenign
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 154643	GRCh38/hg38 8p23.1(chr8:8273108-12610034)x1	BLK, C8orf74 +206 more	Copy number loss	See cases	GPathogenic
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 152917	GRCh38/hg38 8p23.3-22(chr8:226452-16280146)x3	LOC101929290, LOC102723313 +448 more	Copy number gain	See cases	GPathogenic
Select item 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC130000099, LOC130000100 +1040 more	Copy number gain	See cases	GPathogenic
Select item 151133	GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3	DPYSL2, DUSP26 +1020 more	Copy number gain	See cases	GPathogenic
Select item 150888	GRCh38/hg38 8p23.1(chr8:12127758-12182469)x3	FAM66D, FAM86B1 +2 more	Copy number gain	See cases	GLikely benign
Select item 150733	GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3	LOC126860319, LOC126860320 +696 more	Copy number gain	See cases	GPathogenic
Select item 149882	GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3	LOC129999950, LOC129999951 +996 more	Copy number gain	See cases	GPathogenic
Select item 149809	GRCh38/hg38 8p23.1(chr8:12095338-12585258)x3	DEFB130A, FAM66A +10 more	Copy number gain	See cases	GBenign
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 149529	GRCh38/hg38 8p23.1(chr8:7103661-12299882)x3	DEFB103B, DEFB104A +256 more	Copy number gain	See cases	GPathogenic
Select item 148922	GRCh38/hg38 8p23.3-23.1(chr8:226452-12712987)x3	LOC123987611, LOC123987612 +393 more	Copy number gain	See cases	GPathogenic
Select item 148741	GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3	LOC130000032, LOC130000033 +1105 more	Copy number gain	See cases	GPathogenic
Select item 148431	GRCh38/hg38 8p23.1(chr8:8253505-12610034)x1	BLK, C8orf74 +207 more	Copy number loss	See cases	GPathogenic
Select item 147315	GRCh38/hg38 8p23.1(chr8:7311968-12546553)x1	BLK, C8orf74 +255 more	Copy number loss	See cases	GPathogenic
Select item 147314	GRCh38/hg38 8p23.1(chr8:7311968-12546553)x3	LOC129999824, LOC129999825 +255 more	Copy number gain	See cases	GPathogenic
Select item 146786	GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3	LOC129999950, LOC129999951 +736 more	Copy number gain	See cases	GPathogenic
Select item 146718	GRCh38/hg38 8p23.3-21.3(chr8:241530-23198398)x3	LOC129999940, LOC129999941 +687 more	Copy number gain	See cases	GPathogenic
Select item 146493	GRCh38/hg38 8p23.1(chr8:8273108-12383643)x1	BLK, C8orf74 +201 more	Copy number loss	See cases	GPathogenic
Select item 145585	GRCh38/hg38 8p23.1(chr8:8273108-12546553)x3	PPP1R3B, PPP1R3B-DT +205 more	Copy number gain	See cases	GPathogenic
Select item 144766	GRCh38/hg38 8p23.1(chr8:7834379-12182465)x3	BLK, C8orf74 +217 more	Copy number gain	See cases	GPathogenic
Select item 144224	GRCh38/hg38 8p23.1(chr8:11901356-12610034)x1	DEFB130A, DEFB130B +16 more	Copy number loss	See cases	GBenign
Select item 144130	GRCh38/hg38 8p23.1(chr8:8222339-12182465)x1	FAM85B, FAM86B1 +205 more	Copy number loss	See cases	GPathogenic
Select item 59739	GRCh38/hg38 8p23.3-22(chr8:241530-17678697)x3	LOC101929290, LOC102723313 +471 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 59735	GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3	ADAM28, ADAM7 +979 more	Copy number gain	See cases	GPathogenic
Select item 59332	GRCh38/hg38 8p23.1(chr8:7234837-12514815)x1	BLK, C8orf74 +260 more	Copy number loss	See cases	GPathogenic
Select item 59322	GRCh38/hg38 8p23.1(chr8:7195664-12383643)x1	LOC129999906, LOC129999907 +258 more	Copy number loss	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 57482	GRCh38/hg38 8p23.1(chr8:7411297-12182465)x3	BLK, C8orf74 +241 more	Copy number gain	See cases	GPathogenic
Select item 57060	GRCh38/hg38 8p23.1(chr8:8222339-12383643)x1	BLK, C8orf74 +208 more	Copy number loss	See cases	GPathogenic
Select item 32400	GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1	XKR5, XKR6 +773 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 53