LOC126806614[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 148876	GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3	LOC129936094, LOC129936095 +647 more	Copy number gain	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	ANKRD28, ARL8B +962 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	LOC129936377, LOC129936378 +1111 more	Copy number gain	See cases	GPathogenic
Select item 57977	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	LOC110120630, LOC111429626 +608 more	Copy number gain	See cases	GPathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	ACAA1, ACVR2B +730 more	Copy number gain	See cases	GPathogenic
Select item 1703229	Single allele	HDAC11, LOC126806611 +244 more	Deletion	3p- syndrome	GPathogenic
Select item 155700	GRCh38/hg38 3p25.1-24.3(chr3:14360747-21656134)x4	ANKRD28, BALR6 +214 more	Copy number gain	See cases	GPathogenic
Select item 2245219	NM_016474.5(CCDC174):c.1235G>A (p.Ser412Asn)	CCDC174, LOC126806614 (S336N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3138866	NM_016474.5(CCDC174):c.1261C>T (p.Pro421Ser)	CCDC174, LOC126806614 (P421S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 709748	NM_016474.5(CCDC174):c.1290A>C (p.Gly430=)	CCDC174, LOC126806614	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 721610	NM_016474.5(CCDC174):c.1307C>T (p.Thr436Met)	CCDC174, LOC126806614 (T436M)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3138867	NM_016474.5(CCDC174):c.1313C>G (p.Pro438Arg)	CCDC174, LOC126806614 (P438R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404903	NM_016474.5(CCDC174):c.1327G>A (p.Asp443Asn)	CCDC174, LOC126806614 (D367N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 780103	NM_016474.5(CCDC174):c.1350A>C (p.Thr450=)	CCDC174, LOC126806614	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 749856	NM_016474.5(CCDC174):c.1350A>G (p.Thr450=)	CCDC174, LOC126806614	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 731345	NM_016474.5(CCDC174):c.1396G>A (p.Val466Met)	CCDC174, LOC126806614 (V466M)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 222080	NM_016474.5(CCDC174):c.1404A>G (p.Ter468Trp)	CCDC174, LOC126806614	Single nucleotide variant (stop lost +1 more)	Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome	GPathogenic
Select item 1274256	NM_016474.5(CCDC174):c.*167C>T	CCDC174, LOC126806614	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign