"GeneDx"[submitter] AND "LOC130068746"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145168	GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1	LOC125467786, LOC125467787 +1203 more	Copy number loss	See cases	GPathogenic
Select item 58668	GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3	MIR2114, MIR224 +718 more	Copy number gain	See cases	GPathogenic
Select item 506766	NM_001379110.1(SLC9A6):c.-73G>A	LOC130068746, SLC9A6	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 378617	NM_001379110.1(SLC9A6):c.-60T>C	LOC130068746, SLC9A6	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 516672	NM_001379110.1(SLC9A6):c.-57+15C>T	LOC130068746, SLC9A6	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 1252407	NM_001379110.1(SLC9A6):c.-57+16G>C	LOC130068746, SLC9A6	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 422694	NM_001379110.1(SLC9A6):c.-57+21del	LOC130068746, SLC9A6	Deletion (5 prime UTR variant +1 more)	Christianson syndrome	GBenign FDA Recognized database
Select item 1313989	NM_001379110.1(SLC9A6):c.-57+21G>A	LOC130068746, SLC9A6	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1201768	NM_001379110.1(SLC9A6):c.-57+27T>A	LOC130068746, SLC9A6 (M1K)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 383439	NM_001379110.1(SLC9A6):c.-57+27T>G	LOC130068746, SLC9A6 (M1R)	Single nucleotide variant (missense variant +2 more)	Christianson syndrome	GUncertain significance FDA Recognized database
Select item 1329746	NM_001379110.1(SLC9A6):c.-57+29G>A	LOC130068746, SLC9A6 (A2T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 508787	NM_001379110.1(SLC9A6):c.-57+37C>G	LOC130068746, SLC9A6	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3338748	NM_001379110.1(SLC9A6):c.-57+38G>T	LOC130068746, SLC9A6 (G5C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1684097	NM_001379110.1(SLC9A6):c.-57+38G>A	LOC130068746, SLC9A6 (G5S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2574892	NM_001379110.1(SLC9A6):c.-57+41T>A	LOC130068746, SLC9A6 (W6R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 450956	NM_001379110.1(SLC9A6):c.-57+43G>C	LOC130068746, SLC9A6 (W6C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3371540	NM_001379110.1(SLC9A6):c.-57+48G>A	LOC130068746, SLC9A6 (R8Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 159933	NM_001379110.1(SLC9A6):c.-57+50G>T	LOC130068746, SLC9A6 (A9S)	Single nucleotide variant (missense variant +1 more)	Christianson syndrome	GBenign FDA Recognized database
Select item 453151	NM_001379110.1(SLC9A6):c.-56-40G>C	LOC130068746, SLC9A6 (A21P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance