"GeneDx"[submitter] AND "CCDC22"[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58615	GRCh38/hg38 Xp11.23-11.22(chrX:47859417-52789530)x3	AKAP4, BMP15 +213 more	Copy number gain	See cases	GPathogenic
Select item 393115	NM_014008.5(CCDC22):c.242C>T (p.Pro81Leu)	CCDC22 (P81L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 419864	NM_014008.5(CCDC22):c.297C>G (p.Asp99Glu)	CCDC22 (D99E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 426293	NM_014008.5(CCDC22):c.404G>A (p.Arg135Gln)	CCDC22 (R135Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1194570	NM_014008.5(CCDC22):c.586G>A (p.Val196Met)	CCDC22 (V196M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 451185	NM_014008.5(CCDC22):c.614C>T (p.Ser205Leu)	CCDC22 (S205L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 198556	NM_014008.5(CCDC22):c.715G>A (p.Glu239Lys)	CCDC22 (E239K)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 1307272	NM_014008.5(CCDC22):c.757A>G (p.Thr253Ala)	CCDC22 (T253A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1308471	NM_014008.5(CCDC22):c.761A>C (p.Glu254Ala)	CCDC22 (E254A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 421773	NM_014008.5(CCDC22):c.770G>A (p.Arg257His)	CCDC22 (R257H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1308033	NM_014008.5(CCDC22):c.797C>A (p.Pro266His)	CCDC22 (P266H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366059	NM_014008.5(CCDC22):c.880A>G (p.Thr294Ala)	CCDC22 (T294A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 389264	NM_014008.5(CCDC22):c.910-5C>T	CCDC22	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1197210	NM_014008.5(CCDC22):c.1064T>C (p.Met355Thr)	CCDC22 (M355T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3375528	NM_014008.5(CCDC22):c.1121T>C (p.Leu374Pro)	CCDC22 (L374P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363394	NM_014008.5(CCDC22):c.1220T>C (p.Val407Ala)	CCDC22 (V407A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1304641	NM_014008.5(CCDC22):c.1270C>T (p.His424Tyr)	CCDC22 (H424Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342749	NM_014008.5(CCDC22):c.1273C>T (p.Arg425Trp)	CCDC22 (R425W)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1305185	NM_014008.5(CCDC22):c.1331T>C (p.Leu444Pro)	CCDC22 (L444P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1698311	NM_014008.5(CCDC22):c.1513C>G (p.Arg505Gly)	CCDC22 (R505G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 423605	NM_014008.5(CCDC22):c.1676A>G (p.Tyr559Cys)	CCDC22 (Y559C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1193798	NM_014008.5(CCDC22):c.1730C>T (p.Thr577Ile)	CCDC22 (T577I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2503294	NM_014008.5(CCDC22):c.1822G>A (p.Glu608Lys)	CCDC22 (E608K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1703416	NM_014008.5(CCDC22):c.1852G>A (p.Ala618Thr)	CCDC22 (A618T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306352	NM_014008.5(CCDC22):c.1873C>T (p.Arg625Trp)	CCDC22 (R625W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	TMEM255A, TMEM31 +819 more	Copy number gain	See cases	GPathogenic
Select item 253615	GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3	ACE2, ACOT9 +316 more	Copy number gain	See cases	GPathogenic
Select item 253613	GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	ABCB7, ABCD1 +783 more	Copy number gain	See cases	GPathogenic
Select item 253602	GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253583	GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	PNMA3, PLP1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253571	GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1	ACE2, ACOT9 +316 more	Copy number loss	See cases	GPathogenic
Select item 253495	GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	MAGEB4, MAGEB5 +818 more	Copy number loss	See cases	GPathogenic
Select item 253492	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 253487	GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	RPS6KA3, RPS6KA6 +819 more	Copy number gain	See cases	GPathogenic
Select item 253458	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253438	GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	RRAGB, RS1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253436	GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3	ABCB7, AKAP4 +250 more	Copy number gain	See cases	GPathogenic
Select item 253432	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3	ARL13A, ARMCX1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253389	GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2	HDAC6, HTATSF1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253376	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 3362047	NM_014008.5(CCDC22):c.1019A>G (p.Gln340Arg)	CCDC22 (Q340R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361769	NM_014008.5(CCDC22):c.1058C>T (p.Ala353Val)	CCDC22 (A353V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361509	NM_014008.5(CCDC22):c.837G>C (p.Trp279Cys)	CCDC22 (W279C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359346	NM_014008.5(CCDC22):c.1720A>G (p.Ile574Val)	CCDC22 (I574V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 45