CCDC167[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2344053	NM_138493.3(CCDC167):c.272T>C (p.Val91Ala)	CCDC167 (V91A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367613	NM_138493.3(CCDC167):c.268C>T (p.Leu90Phe)	CCDC167 (L90F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138632	NM_138493.3(CCDC167):c.191A>G (p.Glu64Gly)	CCDC167 (E64G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138631	NM_138493.3(CCDC167):c.181T>G (p.Ser61Ala)	CCDC167 (S61A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356338	NM_138493.3(CCDC167):c.176A>G (p.Lys59Arg)	CCDC167 (K59R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389258	NM_138493.3(CCDC167):c.116G>A (p.Arg39Gln)	CCDC167 (R39Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2208599	NM_138493.3(CCDC167):c.115C>T (p.Arg39Trp)	CCDC167 (R39W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335583	NM_138493.3(CCDC167):c.7A>G (p.Lys3Glu)	CCDC167 (K3E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062895	GRCh37/hg19 6p21.2(chr6:37160048-38287691)x3	BTBD9, CCDC167 +6 more	Copy number gain	not specified	GUncertain significance
Select item 2685202	GRCh37/hg19 6p21.31-21.1(chr6:35562152-42003452)x1	BNIP5, APOBEC2 +67 more	Copy number loss	not provided	GPathogenic
Select item 997072	GRCh37/hg19 6p21.31-21.2(chr6:34401304-38435497)	ANKS1A, ARMC12 +49 more	Copy number loss	Severe intrauterine growth retardation	GPathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
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