"GeneDx"[submitter] AND "LOC129997525"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58453	GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1	ACAT2, AFDN +549 more	Copy number loss	See cases	GPathogenic
Select item 146050	GRCh38/hg38 6q25.3(chr6:156353632-157547682)x1	ARID1B, LOC105378073 +58 more	Copy number loss	See cases	GUncertain significance
Select item 3365306	NM_001374828.1(ARID1B):c.743G>A (p.Ser248Asn)	ARID1B, LOC115308161 +1 more (S248N)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3342606	NM_001374828.1(ARID1B):c.770dup (p.Pro260fs)	ARID1B, LOC115308161 +1 more (P260fs)	Duplication (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 3367239	NM_001374828.1(ARID1B):c.784C>G (p.Leu262Val)	ARID1B, LOC115308161 +1 more (L262V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3343821	NM_001374828.1(ARID1B):c.805_813del (p.Asp269_Ala271del)	ARID1B, LOC115308161 +1 more	Deletion (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1230590	NM_001374828.1(ARID1B):c.852G>A (p.Glu284=)	ARID1B, LOC129997525	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2663474	NM_001374828.1(ARID1B):c.876C>T (p.Gly292=)	ARID1B, LOC129997525	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3340979	NM_001374828.1(ARID1B):c.878C>T (p.Thr293Met)	ARID1B, LOC129997525 (T293M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1205686	NM_001374828.1(ARID1B):c.884A>C (p.Gln295Pro)	ARID1B, LOC129997525 (Q295P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1703287	NM_001374828.1(ARID1B):c.890C>T (p.Pro297Leu)	ARID1B, LOC129997525 (P297L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1754191	NM_001374828.1(ARID1B):c.904G>A (p.Gly302Arg)	ARID1B, LOC129997525 (G302R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 444704	NM_001374828.1(ARID1B):c.928_929delinsCC (p.Val310Pro)	ARID1B, LOC129997525 (V227P +1 more)	Indel (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1198084	NM_001374828.1(ARID1B):c.947A>C (p.Tyr316Ser)	ARID1B, LOC129997525 (Y316S)	Single nucleotide variant (missense variant)	not provided	GLikely benign