LOC129995199[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 149231	GRCh38/hg38 5q33.1-34(chr5:152443869-166104392)x1	ADAM19, ADRA1B +295 more	Copy number loss	See cases	GPathogenic
Select item 58390	GRCh38/hg38 5q33.1-34(chr5:152761187-167248053)x1	ADAM19, ADRA1B +280 more	Copy number loss	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995440, LOC129995441 +864 more	Copy number gain	See cases	GPathogenic
Select item 1707452	Single allele	ADRA1B, ATP10B +111 more	Duplication	not specified	GUncertain significance
Select item 149967	GRCh38/hg38 5q33.3-34(chr5:158941354-164386760)x1	GABRA1, GABRA6 +108 more	Copy number loss	See cases	GPathogenic
Select item 58393	GRCh38/hg38 5q34(chr5:161909955-164086917)x1	CCNG1, GABRG2 +17 more	Copy number loss	See cases	GPathogenic
Select item 3202746	NM_145266.6(NUDCD2):c.184C>T (p.Leu62Phe)	LOC129995199, NUDCD2 (L62F)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2512989	NM_145266.6(NUDCD2):c.149G>A (p.Arg50Gln)	LOC129995199, NUDCD2 (R50Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3202745	NM_145266.6(NUDCD2):c.148C>G (p.Arg50Gly)	LOC129995199, NUDCD2 (R50G)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3202744	NM_145266.6(NUDCD2):c.139C>T (p.Leu47Phe)	LOC129995199, NUDCD2 (L47F)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3301365	NM_145266.6(NUDCD2):c.107C>T (p.Pro36Leu)	LOC129995199, NUDCD2 (P36L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2562204	NM_145266.6(NUDCD2):c.31G>A (p.Val11Met)	LOC129995199, NUDCD2 (V11M)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2380567	NM_145266.6(NUDCD2):c.29G>A (p.Gly10Glu)	LOC129995199, NUDCD2 (G10E)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance