"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "LOC1299975 - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 932623	NM_001374828.1(ARID1B):c.724C>T (p.His242Tyr)	ARID1B, LOC115308161 +1 more (H242Y)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3067386	NM_001374828.1(ARID1B):c.756C>T (p.Gly252=)	ARID1B, LOC115308161 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1299055	NM_001374828.1(ARID1B):c.795G>T (p.Pro265=)	ARID1B, LOC115308161 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1230590	NM_001374828.1(ARID1B):c.852G>A (p.Glu284=)	ARID1B, LOC129997525	Single nucleotide variant (synonymous variant)	ARID1B-related condition +2 more	GBenign/Likely benign
Select item 2094147	NM_001374828.1(ARID1B):c.886CCG[3] (p.Pro297_Val298insPro)	ARID1B, LOC129997525	Microsatellite (inframe_indel +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 445563	NM_001374828.1(ARID1B):c.901C>G (p.Pro301Ala)	ARID1B, LOC129997525 (P301A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 434368	NM_001374828.1(ARID1B):c.927C>T (p.Ala309=)	ARID1B, LOC129997525	Single nucleotide variant (synonymous variant)	Coffin-Siris syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 444704	NM_001374828.1(ARID1B):c.928_929delinsCC (p.Val310Pro)	ARID1B, LOC129997525 (V227P +1 more)	Indel (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 444703	NM_001374828.1(ARID1B):c.928G>C (p.Val310Leu)	ARID1B, LOC129997525 (V310L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2657053	NM_001374828.1(ARID1B):c.929T>C (p.Val310Ala)	ARID1B, LOC129997525 (V169A +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign