ClinVar for Gene (Select 56940) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 175

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3352135	NM_001286555.3(DUSP22):c.*1871C>G	DUSP22 (A170G)	Single nucleotide variant (3 prime UTR variant +2 more)	DUSP22-related disorder	GLikely benign
Select item 3351853	NM_001286555.3(DUSP22):c.*1913T>A	DUSP22 (L184Q)	Single nucleotide variant (3 prime UTR variant +2 more)	DUSP22-related disorder	GUncertain significance
Select item 3274061	NM_001286555.3(DUSP22):c.113A>G (p.His38Arg)	DUSP22 (H38R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3274059	NM_001286555.3(DUSP22):c.470G>A (p.Ser157Asn)	DUSP22 (S157N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062932	GRCh37/hg19 6p25.3-25.1(chr6:156974-4338899)x1	BPHL, C6orf201 +25 more	Copy number loss	not specified	GPathogenic
Select item 3062928	GRCh37/hg19 6p25.3-25.2(chr6:156974-3175378)x3	BPHL, DUSP22 +16 more	Copy number gain	not specified	GPathogenic
Select item 3062926	GRCh37/hg19 6p25.3(chr6:192543-1445812)x3	DUSP22, EXOC2 +4 more	Copy number gain	not specified	GUncertain significance
Select item 3060833	NM_001286555.3(DUSP22):c.*1878G>A	DUSP22	Single nucleotide variant (3 prime UTR variant +2 more)	DUSP22-related disorder	GBenign
Select item 3059480	NM_001286555.3(DUSP22):c.573G>A (p.Pro191=)	DUSP22	Single nucleotide variant (synonymous variant +2 more)	DUSP22-related disorder	GBenign
Select item 3057555	NM_001286555.3(DUSP22):c.*8G>A	DUSP22	Single nucleotide variant (3 prime UTR variant +2 more)	DUSP22-related disorder	GLikely benign
Select item 3054593	NM_001286555.3(DUSP22):c.168G>A (p.Ala56=)	DUSP22	Single nucleotide variant (synonymous variant +1 more)	DUSP22-related disorder	GLikely benign
Select item 3052547	NM_001286555.3(DUSP22):c.153G>A (p.Leu51=)	DUSP22	Single nucleotide variant (synonymous variant +1 more)	DUSP22-related disorder	GLikely benign
Select item 3051817	NM_001286555.3(DUSP22):c.-5C>T	DUSP22	Single nucleotide variant (5 prime UTR variant +1 more)	DUSP22-related disorder	GLikely benign
Select item 3049760	NM_001286555.3(DUSP22):c.427G>A (p.Val143Ile)	DUSP22 (V143I)	Single nucleotide variant (missense variant +1 more)	DUSP22-related disorder	GLikely benign
Select item 3042277	NM_001286555.3(DUSP22):c.584C>T (p.Pro195Leu)	DUSP22 (P195L)	Single nucleotide variant (missense variant +2 more)	DUSP22-related disorder	GLikely benign
Select item 3041169	NM_001286555.3(DUSP22):c.225C>T (p.His75=)	DUSP22	Single nucleotide variant (synonymous variant +1 more)	DUSP22-related disorder	GLikely benign
Select item 3040278	NM_001286555.3(DUSP22):c.56-6dup	DUSP22	Duplication (intron variant)	DUSP22-related disorder	GLikely benign
Select item 3039993	NM_001286555.3(DUSP22):c.315C>T (p.Thr105=)	DUSP22	Single nucleotide variant (synonymous variant +1 more)	DUSP22-related disorder	GLikely benign
Select item 3039128	NM_001286555.3(DUSP22):c.477G>T (p.Leu159Phe)	DUSP22 (L159F)	Single nucleotide variant (missense variant +1 more)	DUSP22-related disorder	GLikely benign
Select item 3037645	NM_001286555.3(DUSP22):c.285C>T (p.Ser95=)	DUSP22	Single nucleotide variant (synonymous variant +1 more)	DUSP22-related disorder	GLikely benign
Select item 3035996	NM_001286555.3(DUSP22):c.189-4C>T	DUSP22	Single nucleotide variant (intron variant)	DUSP22-related disorder	GLikely benign
Select item 3035033	NM_001286555.3(DUSP22):c.316G>A (p.Val106Ile)	DUSP22 (V106I)	Single nucleotide variant (missense variant +1 more)	DUSP22-related disorder	GLikely benign
Select item 3034895	NM_001286555.3(DUSP22):c.594C>T (p.Tyr198=)	DUSP22	Single nucleotide variant (synonymous variant +2 more)	DUSP22-related disorder	GLikely benign
Select item 3032831	NM_001286555.3(DUSP22):c.69G>A (p.Ala23=)	DUSP22	Single nucleotide variant (synonymous variant +1 more)	DUSP22-related disorder	GLikely benign
Select item 3032216	NM_001286555.3(DUSP22):c.606G>A (p.Thr202=)	DUSP22	Single nucleotide variant (synonymous variant +2 more)	DUSP22-related disorder	GLikely benign
Select item 3031542	NM_001286555.3(DUSP22):c.*2G>A	DUSP22	Single nucleotide variant (3 prime UTR variant +2 more)	DUSP22-related disorder	GLikely benign
Select item 2685192	GRCh37/hg19 6p25.3(chr6:156975-2072578)x1	DUSP22, EXOC2 +6 more	Copy number loss	not provided	GPathogenic
Select item 2685191	GRCh37/hg19 6p25.3(chr6:156975-554996)x1	DUSP22, EXOC2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 2684439	GRCh37/hg19 6p25.3-22.3(chr6:156975-15478095)x3	ADTRP, BLOC1S5 +73 more	Copy number gain	not provided	GPathogenic
Select item 2605436	NM_001286555.3(DUSP22):c.44G>A (p.Gly15Asp)	DUSP22 (G15D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464150	NM_001286555.3(DUSP22):c.260A>G (p.His87Arg)	DUSP22 (H87R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295262	NM_001286555.3(DUSP22):c.19A>C (p.Lys7Gln)	DUSP22 (K7Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246426	NM_001286555.3(DUSP22):c.*1877C>T	DUSP22 (P172L)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2243014	NM_001286555.3(DUSP22):c.*1891T>C	DUSP22 (F177L)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1810399	GRCh37/hg19 6p25.3(chr6:160000-820000)x1	DUSP22, EXOC2 +2 more	Copy number loss	See cases	GUncertain significance
Select item 1808724	GRCh37/hg19 6p25.3-25.2(chr6:156975-3718881)x1	BPHL, DUSP22 +19 more	Copy number loss	not provided	GPathogenic
Select item 1338826	GRCh38/hg38 6p25.3(chr6:259345-293593)	DUSP22, LOC129995536 +2 more	Copy number gain	Diaphragmatic hernia	GUncertain significance
Select item 1180550	GRCh37/hg19 6p25.3-25.2(chr6:149619-3951208)x3	BPHL, DUSP22 +21 more	Copy number gain	not provided	GPathogenic
Select item 983174	GRCh37/hg19 6p25.3(chr6:152849-1888703)x1	FOXC1, FOXF2 +6 more	Copy number loss	See cases	GPathogenic
Select item 980203	GRCh37/hg19 6p25.3-25.2(chr6:302183-3290583)x3	TUBB2A, DUSP22 +19 more	Copy number gain	not provided	GPathogenic
Select item 814767	GRCh37/hg19 6p25.3(chr6:156974-2208360)x1	HUS1B, EXOC2 +6 more	Copy number loss	not provided	GPathogenic
Select item 780116	NM_001286555.3(DUSP22):c.264-7C>T	DUSP22	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 687409	GRCh37/hg19 6p25.3-22.3(chr6:156974-23221621)x3	ADTRP, ATXN1 +95 more	Copy number gain	not provided	GPathogenic
Select item 563140	GRCh37/hg19 6p25.3-22.3(chr6:156974-21955964)x3	ADTRP, ATXN1 +93 more	Copy number gain	not provided	GPathogenic
Select item 563139	GRCh37/hg19 6p25.3-23(chr6:156974-13502033)x3	ADTRP, BLOC1S5 +66 more	Copy number gain	not provided	GPathogenic
Select item 563138	GRCh37/hg19 6p25.3-25.2(chr6:156974-3398920)x1	HUS1B, SERPINB6 +19 more	Copy number loss	not provided	GPathogenic
Select item 560067	Single allele	ADTRP, ATXN1 +95 more	Duplication	not provided	GPathogenic
Select item 549612	NC_000006.12:g.299363_378956dup	DUSP22, LOC126859546 +23 more	Duplication	Primary amenorrhea	GBenign
Select item 549611	NC_000006.11:g.283968_375949del91982	DUSP22, LOC126859546 +27 more	Deletion	Primary amenorrhea	GBenign
Select item 549610	NC_000006.11:g.279667_378956del99290	DUSP22, LOC126859546 +28 more	Deletion	Primary amenorrhea	GBenign
Select item 549609	NC_000006.11:g.259881_389482del129602	DUSP22, LOC126859546 +28 more	Deletion	Primary amenorrhea	GBenign
Select item 549608	NC_000006.12:g.259881_378956dup	DUSP22, LOC126859546 +28 more	Duplication	Primary amenorrhea	GBenign
Select item 549607	NC_000006.11:g.259881_378956del119076	DUSP22, LOC126859546 +28 more	Deletion	Primary amenorrhea	GBenign
Select item 549606	NR_104475.1(DUSP22):n.-32176_504+10738dup	DUSP22, LOC129995536 +4 more	Duplication	Primary amenorrhea	GBenign
Select item 549605	NC_000006.11:g.259528_293493del33966	DUSP22, LOC129995536 +2 more	Deletion	Primary amenorrhea	GBenign
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 442601	GRCh37/hg19 6p25.3(chr6:195229-2117379)x1	DUSP22, EXOC2 +6 more	Copy number loss	See cases	GPathogenic
Select item 442393	GRCh37/hg19 6p25.3-25.1(chr6:156974-6417749)x1	BPHL, C6orf201 +33 more	Copy number loss	See cases	GPathogenic
Select item 441555	GRCh37/hg19 6p25.3(chr6:156974-2030623)x1	DUSP22, EXOC2 +6 more	Copy number loss	See cases	GPathogenic
Select item 253658	GRCh37/hg19 6p25.3(chr6:180959-2180143)x1	IRF4, GMDS +6 more	Copy number loss	See cases	GPathogenic
Select item 253526	GRCh37/hg19 6p25.3-22.3(chr6:168775-24023234)x3	STMND1, SYCP2L +95 more	Copy number gain	See cases	GPathogenic
Select item 253511	GRCh37/hg19 6p25.3-24.1(chr6:204009-11608587)x1	BLOC1S5, BMP6 +60 more	Copy number loss	See cases	GPathogenic
Select item 253456	GRCh37/hg19 6p25.3-25.1(chr6:204009-6447311)x1	PPP1R3G, BPHL +33 more	Copy number loss	See cases	GPathogenic
Select item 242978	GRCh37/hg19 6p25.3-25.2(chr6:255350-3189972)x3	GMDS, DUSP22 +16 more	Copy number gain	Brachydactyly type E1	GPathogenic
Select item 161067	GRCh38/hg38 6p25.3(chr6:266079-339802)x3	DUSP22, LOC126859546 +20 more	Copy number gain	See cases	GBenign
Select item 160997	GRCh38/hg38 6p25.3(chr6:259528-389482)x1	DUSP22, LOC126859546 +28 more	Copy number loss	See cases	GBenign
Select item 160993	GRCh38/hg38 6p25.3(chr6:259528-293493)x3	DUSP22, LOC129995536 +2 more	Copy number gain	See cases	GBenign
Select item 160992	GRCh38/hg38 6p25.3(chr6:259528-339802)x1	DUSP22, LOC126859546 +20 more	Copy number loss	See cases	GBenign
Select item 160991	GRCh38/hg38 6p25.3(chr6:259528-339802)x3	DUSP22, LOC126859546 +20 more	Copy number gain	See cases	GBenign
Select item 160990	GRCh38/hg38 6p25.3(chr6:259528-307998)x3	DUSP22, LOC129995536 +6 more	Copy number gain	See cases	GBenign
Select item 155715	GRCh38/hg38 6p25.3-23(chr6:156974-13855925)x1	ADTRP, BLOC1S5 +612 more	Copy number loss	See cases	GPathogenic
Select item 155631	GRCh38/hg38 6p25.3-24.1(chr6:156974-13081201)x3	LOC129995778, LOC129995779 +559 more	Copy number gain	See cases	GLikely pathogenic
Select item 155455	GRCh38/hg38 6p25.3(chr6:156974-302261)x1	DUSP22, LINC03066 +24 more	Copy number loss	See cases	GLikely benign
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 155308	GRCh38/hg38 6p25.3-25.1(chr6:156974-4946857)x3	LOC129995586, LOC129995587 +257 more	Copy number gain	See cases	GUncertain significance
Select item 155267	GRCh38/hg38 6p25.3-23(chr6:152634-14417003)x3	LOC129995681, LOC129995682 +643 more	Copy number gain	See cases	GPathogenic
Select item 154879	GRCh38/hg38 6p25.3(chr6:253107-293497)x3	DUSP22, LOC129389423 +3 more	Copy number gain	See cases	GBenign
Select item 154849	GRCh38/hg38 6p25.3-25.1(chr6:152634-6289804)x1	BPHL, C6orf201 +314 more	Copy number loss	See cases	GPathogenic
Select item 154711	GRCh38/hg38 6p25.3(chr6:259881-307998)x1	DUSP22, LOC129995536 +6 more	Copy number loss	See cases	GBenign
Select item 154371	GRCh38/hg38 6p25.3(chr6:164360-293497)x3	DUSP22, LINC03066 +22 more	Copy number gain	See cases	GBenign
Select item 154344	GRCh38/hg38 6p25.3(chr6:259531-296605)x3	DUSP22, LOC129995536 +2 more	Copy number gain	See cases	GBenign
Select item 154339	GRCh38/hg38 6p25.3(chr6:259531-339797)x1	DUSP22, LOC126859546 +20 more	Copy number loss	See cases	GBenign
Select item 154338	GRCh38/hg38 6p25.3(chr6:259531-339797)x3	DUSP22, LOC126859546 +20 more	Copy number gain	See cases	GBenign
Select item 154331	GRCh38/hg38 6p25.3(chr6:259531-307995)x1	DUSP22, LOC129995536 +6 more	Copy number loss	See cases	GBenign
Select item 154330	GRCh38/hg38 6p25.3(chr6:259531-307995)x3	DUSP22, LOC129995536 +6 more	Copy number gain	See cases	GBenign
Select item 154329	GRCh38/hg38 6p25.3(chr6:296546-339797)x3	DUSP22, LOC126859546 +17 more	Copy number gain	See cases	GBenign
Select item 154328	GRCh38/hg38 6p25.3(chr6:279208-339797)x1	DUSP22, LOC126859546 +20 more	Copy number loss	See cases	GBenign
Select item 154325	GRCh38/hg38 6p25.3(chr6:279208-339797)x3	DUSP22, LOC126859546 +20 more	Copy number gain	See cases	GBenign
Select item 154201	GRCh38/hg38 6p25.3-25.1(chr6:156974-4907692)x1	LOC123575648, LOC123575649 +257 more	Copy number loss	See cases	GPathogenic
Select item 154194	GRCh38/hg38 6p25.3-24.3(chr6:156974-7122759)x1	BPHL, C6orf201 +347 more	Copy number loss	See cases	GPathogenic
Select item 154190	GRCh38/hg38 6p25.3-24.2(chr6:156974-11550817)x3	SLC35B3, SMIM13 +510 more	Copy number gain	See cases	GLikely pathogenic
Select item 153026	GRCh38/hg38 6p25.3(chr6:259881-293615)x1	DUSP22, LOC129995536 +2 more	Copy number loss	See cases	GBenign
Select item 151605	GRCh38/hg38 6p25.3(chr6:170426-1621983)x1	LOC129995588, LOC129995589 +110 more	Copy number loss	See cases	GPathogenic
Select item 151603	GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3	ADTRP, ATXN1 +779 more	Copy number gain	See cases	GPathogenic
Select item 150659	GRCh38/hg38 6p25.3(chr6:259531-293782)x3	DUSP22, LOC129995536 +2 more	Copy number gain	See cases	GBenign
Select item 150539	GRCh38/hg38 6p25.3(chr6:259531-296523)x3	DUSP22, LOC129995536 +2 more	Copy number gain	See cases	GBenign
Select item 150440	GRCh38/hg38 6p25.3(chr6:296464-366639)x3	DUSP22, LOC126859546 +22 more	Copy number gain	See cases	GBenign
Select item 149755	GRCh38/hg38 6p25.3-25.1(chr6:152634-6027547)x1	LOC129995664, LOC129995665 +309 more	Copy number loss	See cases	GPathogenic
Select item 149754	GRCh38/hg38 6p25.3-25.1(chr6:152634-6027547)x3	BPHL, C6orf201 +309 more	Copy number gain	See cases	GLikely pathogenic

<< First< Prev

Page of 2