ClinVar for Gene (Select 339230) - ClinVar

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Links from Gene

Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3263851	NM_199287.3(CCDC137):c.838A>T (p.Thr280Ser)	CCDC137 (T280S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263850	NM_199287.3(CCDC137):c.244A>G (p.Ser82Gly)	CCDC137 (S82G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263849	NM_199287.3(CCDC137):c.718C>T (p.Pro240Ser)	CCDC137 (P240S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263848	NM_199287.3(CCDC137):c.827G>A (p.Arg276Gln)	CCDC137 (R276Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263847	NM_199287.3(CCDC137):c.509G>A (p.Arg170Gln)	CCDC137 (R170Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263846	NM_199287.3(CCDC137):c.673T>C (p.Ser225Pro)	CCDC137 (S225P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243134	NC_000017.10:g.(?_79477716)_(80901020_?)dup	ACTG1, ALYREF +52 more	Duplication	not provided	GUncertain significance
Select item 3138381	NM_199287.3(CCDC137):c.815T>C (p.Leu272Pro)	CCDC137 (L272P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138380	NM_199287.3(CCDC137):c.803G>A (p.Arg268Gln)	CCDC137 (R268Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3138378	NM_199287.3(CCDC137):c.595G>C (p.Gly199Arg)	CCDC137 (G199R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138377	NM_199287.3(CCDC137):c.355G>T (p.Gly119Trp)	CCDC137 (G119W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3138376	NM_199287.3(CCDC137):c.322G>A (p.Asp108Asn)	CCDC137 (D108N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138375	NM_199287.3(CCDC137):c.177C>G (p.Asp59Glu)	CCDC137 (D59E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685609	GRCh37/hg19 17q25.3(chr17:79128754-80092824)x1	AATK, ACTG1 +41 more	Copy number loss	not provided	GLikely pathogenic
Select item 2622956	NM_199287.3(CCDC137):c.36G>T (p.Arg12Ser)	CCDC137 (R12S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592618	NM_199287.3(CCDC137):c.791C>T (p.Ala264Val)	CCDC137 (A264V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2514351	NM_199287.3(CCDC137):c.26C>T (p.Ala9Val)	CCDC137 (A9V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487255	NM_199287.3(CCDC137):c.467A>G (p.Glu156Gly)	CCDC137 (E156G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484306	NM_199287.3(CCDC137):c.116C>T (p.Pro39Leu)	CCDC137 (P39L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482904	NM_199287.3(CCDC137):c.683T>G (p.Leu228Arg)	CCDC137 (L228R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445210	Single allele	FOXK2, GCGR +51 more	Deletion	See cases	GPathogenic
Select item 2425656	NC_000017.10:g.(?_79618104)_(79894690_?)dup	ALYREF, ANAPC11 +17 more	Duplication	not provided	GUncertain significance
Select item 2424500	NC_000017.10:g.(?_79477716)_(80900339_?)dup	ACTG1, ALYREF +52 more	Duplication	not provided	GUncertain significance
Select item 2424499	NC_000017.10:g.(?_79618104)_(79674270_?)del	ARL16, CCDC137 +4 more	Deletion	not provided	GPathogenic
Select item 2370690	NM_199287.3(CCDC137):c.739C>T (p.Arg247Cys)	CCDC137 (R247C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2357685	NM_199287.3(CCDC137):c.367G>A (p.Gly123Arg)	CCDC137 (G123R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2312729	NM_199287.3(CCDC137):c.166A>G (p.Lys56Glu)	CCDC137 (K56E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311656	NM_199287.3(CCDC137):c.850A>G (p.Lys284Glu)	CCDC137 (K284E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306020	NM_199287.3(CCDC137):c.430G>A (p.Ala144Thr)	CCDC137 (A144T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282820	NM_199287.3(CCDC137):c.782C>T (p.Ala261Val)	CCDC137 (A261V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234037	NM_199287.3(CCDC137):c.385A>G (p.Met129Val)	CCDC137 (M129V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1701331	GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3	EVPL, EXOC7 +146 more	Copy number gain	not provided	GPathogenic
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 687541	GRCh37/hg19 17q25.3(chr17:79496613-79693150)x3	ARL16, CCDC137 +9 more	Copy number gain	not provided	GUncertain significance
Select item 686094	GRCh37/hg19 17q25.3(chr17:79531886-79685043)x1	ARL16, CCDC137 +7 more	Copy number loss	not provided	GUncertain significance
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	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +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 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

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Links from Gene

Items: 50