ClinVar for Gene (Select 1453) - ClinVar

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Links from Gene

Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243134	NC_000017.10:g.(?_79477716)_(80901020_?)dup	ACTG1, ALYREF +52 more	Duplication	not provided	GUncertain significance
Select item 3242977	NC_000017.10:g.(?_80039865)_(80901020_?)dup	CCDC57, CD7 +18 more	Duplication	Epileptic encephalopathy	GUncertain significance
Select item 3239068	NM_001893.6(CSNK1D):c.910G>A (p.Ala304Thr)	CSNK1D (A304T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3078272	NM_001893.6(CSNK1D):c.1135G>A (p.Val379Ile)	CSNK1D (V379I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078271	NM_001893.6(CSNK1D):c.1024C>G (p.Pro342Ala)	CSNK1D (P342A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3057884	NM_001893.6(CSNK1D):c.996C>G (p.Gly332=)	CSNK1D	Single nucleotide variant (synonymous variant +1 more)	CSNK1D-related disorder	GLikely benign
Select item 3053133	NM_004207.4(SLC16A3):c.*990G>A	CSNK1D, SLC16A3	Single nucleotide variant (3 prime UTR variant)	CSNK1D-related disorder	GLikely benign
Select item 3048437	NM_001893.6(CSNK1D):c.1198-7C>T	CSNK1D	Single nucleotide variant (intron variant)	CSNK1D-related disorder	GLikely benign
Select item 3041815	NM_004207.4(SLC16A3):c.*1066A>G	CSNK1D, SLC16A3	Single nucleotide variant (synonymous variant +1 more)	CSNK1D-related disorder	GLikely benign
Select item 3040908	NM_001893.6(CSNK1D):c.864C>T (p.Phe288=)	CSNK1D	Single nucleotide variant (synonymous variant +1 more)	CSNK1D-related disorder	GLikely benign
Select item 3035264	NM_001893.6(CSNK1D):c.828G>A (p.Leu276=)	CSNK1D	Single nucleotide variant (synonymous variant +1 more)	CSNK1D-related disorder	GLikely benign
Select item 2671602	Single allele	ASPSCR1, B3GNTL1 +28 more	Duplication	not provided	GUncertain significance
Select item 2648494	NM_001893.6(CSNK1D):c.234C>T (p.Asn78=)	CSNK1D	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2648493	NM_001893.6(CSNK1D):c.1155C>T (p.Asp385=)	CSNK1D	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2527718	NM_001893.6(CSNK1D):c.932G>A (p.Arg311Gln)	CSNK1D (R311Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2499662	GRCh38/hg38 17q25.3(chr17:82004063-83087346)	ASPSCR1, B3GNTL1 +130 more	Copy number loss	Anomalous pulmonary venous return	GUncertain significance
Select item 2445210	Single allele	FOXK2, GCGR +51 more	Deletion	See cases	GPathogenic
Select item 2425655	NC_000017.10:g.(?_79891090)_(80333370_?)del	ASPSCR1, CCDC57 +17 more	Deletion	not provided	GPathogenic
Select item 2424500	NC_000017.10:g.(?_79477716)_(80900339_?)dup	MAFG, MCRIP1 +52 more	Duplication	not provided	GUncertain significance
Select item 1701331	GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3	CANT1, CARD14 +146 more	Copy number gain	not provided	GPathogenic
Select item 1526589	GRCh37/hg19 17q25.3(chr17:79976464-81041938)	B3GNTL1, CCDC57 +27 more	Copy number loss	not specified	GUncertain significance
Select item 773768	NM_001893.6(CSNK1D):c.213C>T (p.Cys71=)	CSNK1D	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 768923	NM_001893.6(CSNK1D):c.912C>T (p.Ala304=)	CSNK1D	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 687727	GRCh37/hg19 17q25.3(chr17:78608912-81041938)x3	AATK, ACTG1 +65 more	Copy number gain	not provided	GPathogenic
Select item 564476	GRCh37/hg19 17q25.3(chr17:76552611-81041938)x3	AATK, ACTG1 +88 more	Copy number gain	not provided	GLikely pathogenic
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 443488	GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	AANAT, AATK +202 more	Copy number gain	See cases	GPathogenic
Select item 443446	GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3	AANAT, AATK +128 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 153720	GRCh38/hg38 17q25.3(chr17:81401966-83084062)x1	ACTG1, ALYREF +226 more	Copy number loss	See cases	GLikely pathogenic
Select item 149717	GRCh38/hg38 17q25.3(chr17:81008196-83102584)x3	AATK, ACTG1 +262 more	Copy number gain	See cases	GPathogenic
Select item 148281	GRCh38/hg38 17q25.3(chr17:82072338-83102552)x1	LOC130062052, LOC130062053 +112 more	Copy number loss	See cases	GLikely pathogenic
Select item 60176	GRCh38/hg38 17q25.3(chr17:82078456-82568008)x3	CCDC57, CD7 +73 more	Copy number gain	See cases	GUncertain significance
Select item 60175	GRCh38/hg38 17q25.3(chr17:81885863-82358856)x3	LOC130062008, LOC130062009 +95 more	Copy number gain	See cases	GUncertain significance
Select item 58714	GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3	AATK, ACTG1 +385 more	Copy number gain	See cases	GPathogenic
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 57263	GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3	AATK, ACTG1 +387 more	Copy number gain	See cases	GPathogenic
Select item 57076	GRCh38/hg38 17q25.3(chr17:78092236-83086677)x3	AATK, ACTG1 +513 more	Copy number gain	See cases	GPathogenic
Select item 50319	NM_001893.6(CSNK1D):c.137A>G (p.His46Arg)	CSNK1D (H46R)	Single nucleotide variant (missense variant +1 more)	Advanced sleep phase syndrome 2	GPathogenic
Select item 8741	NM_001893.6(CSNK1D):c.130A>G (p.Thr44Ala)	CSNK1D (T44A)	Single nucleotide variant (missense variant +1 more)	Advanced sleep phase syndrome 2	GPathogenic

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Links from Gene

Items: 44