LOC126807574[gene] - ClinVar - NCBI

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Items: 17

	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 549597	NC_000005.10:g.160592205_161364688dup	ATP10B, GABRB2 +6 more	Duplication	Primary amenorrhea	GUncertain significance
Select item 2310086	NM_025153.3(ATP10B):c.3142G>T (p.Val1048Phe)	ATP10B, LOC126807574 (V1020F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131259	NM_025153.3(ATP10B):c.3130G>A (p.Asp1044Asn)	ATP10B, LOC126807574 (D1016N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656011	NM_025153.3(ATP10B):c.3086G>A (p.Arg1029His)	ATP10B, LOC126807574 (R1001H +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2610533	NM_025153.3(ATP10B):c.3085C>T (p.Arg1029Cys)	ATP10B, LOC126807574 (R1017C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656012	NM_025153.3(ATP10B):c.3068G>A (p.Arg1023Gln)	ATP10B, LOC126807574 (R1011Q +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2367021	NM_025153.3(ATP10B):c.3016A>G (p.Ile1006Val)	ATP10B, LOC126807574 (I994V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495880	NM_025153.3(ATP10B):c.2950T>C (p.Ser984Pro)	ATP10B, LOC126807574 (S984P +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2286276	NM_025153.3(ATP10B):c.2904G>T (p.Lys968Asn)	ATP10B, LOC126807574 (K956N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319551	NM_025153.3(ATP10B):c.2891G>A (p.Arg964His)	ATP10B, LOC126807574 (R936H +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2298464	NM_025153.3(ATP10B):c.2875G>A (p.Glu959Lys)	ATP10B, LOC126807574 (E947K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance