"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "LOC1153081 - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2673087	NM_001374828.1(ARID1B):c.19GCG[5] (p.Ala12_Ala14del)	ARID1B, LOC115308161 +1 more	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 2657049	NM_001374828.1(ARID1B):c.21G>A (p.Ala7=)	ARID1B, LOC115308161 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1676049	NM_001374828.1(ARID1B):c.42GCGGGC[1] (p.15RA[1])	ARID1B, LOC115308161	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 2579011	NM_001374828.1(ARID1B):c.141GGC[7] (p.Ala53_Pro54insAla)	ARID1B, LOC115308161	Microsatellite (inframe_insertion)	not provided	GLikely benign
Select item 1288785	NM_001374828.1(ARID1B):c.210T>G (p.Ser70Arg)	ARID1B, LOC115308161 +1 more (S70R)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 210264	NM_001374828.1(ARID1B):c.247A>G (p.Asn83Asp)	ARID1B, LOC115308161 +1 more (N83D)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1879673	NM_001374828.1(ARID1B):c.303C>A (p.Ser101Arg)	ARID1B, LOC115308161 +1 more (S101R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 126337	NM_001374828.1(ARID1B):c.318G>A (p.Ala106=)	LOC129997523, LOC115308161 +1 more	Single nucleotide variant (synonymous variant)	ARID1B-related condition +4 more	GBenign/Likely benign
Select item 872671	NM_001374828.1(ARID1B):c.352TCC[9] (p.Ser123_Ser124dup)	ARID1B, LOC115308161	Microsatellite (inframe_insertion)	not provided	GBenign/Likely benign
Select item 1919365	NM_001374828.1(ARID1B):c.399C>G (p.Ser133=)	ARID1B, LOC115308161	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1248351	NM_001374828.1(ARID1B):c.407C>T (p.Ser136Leu)	ARID1B, LOC115308161 +1 more (S136L)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 624273	NM_001374828.1(ARID1B):c.417C>G (p.Gly139=)	ARID1B, LOC115308161 +1 more	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2657050	NM_001374828.1(ARID1B):c.421G>A (p.Ala141Thr)	ARID1B, LOC115308161 +1 more (A141T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 210272	NM_001374828.1(ARID1B):c.446A>G (p.Asn149Ser)	ARID1B, LOC115308161 +1 more (N66S +1 more)	Single nucleotide variant (missense variant)	ARID1B-related condition +4 more	GConflicting classifications of pathogenicity
Select item 810033	NM_001374828.1(ARID1B):c.502C>A (p.His168Asn)	ARID1B, LOC115308161 (H168N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2657051	NM_001374828.1(ARID1B):c.518C>A (p.Ala173Asp)	ARID1B, LOC115308161 (A173D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 588197	NM_001374828.1(ARID1B):c.519CCA[5] (p.His179del)	ARID1B, LOC115308161 (H179del)	Microsatellite (inframe_deletion)	not provided +1 more	GBenign/Likely benign
Select item 126327	NM_001374828.1(ARID1B):c.591GCA[8] (p.Gln214dup)	ARID1B, LOC115308161	Microsatellite (non-coding transcript variant +1 more)	ARID1B-related condition +3 more	GBenign/Likely benign
Select item 591903	NM_001374828.1(ARID1B):c.594GCAGCAGCAGCAGCAGCAACAGCA[1] (p.Gln207_Gln214del)	ARID1B, LOC115308161	Microsatellite (non-coding transcript variant +1 more)	not provided +2 more	GLikely benign
Select item 434350	NM_001374828.1(ARID1B):c.612_632del (p.Gln208_Gln214del)	ARID1B, LOC115308161	Deletion (inframe_deletion +1 more)	Inborn genetic diseases +3 more	GLikely benign
Select item 376846	NM_001374828.1(ARID1B):c.612_626del (p.Gln210_Gln214del)	ARID1B, LOC115308161	Deletion (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2657052	NM_001374828.1(ARID1B):c.606G>A (p.Gln202=)	ARID1B, LOC115308161	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 210289	NM_001374828.1(ARID1B):c.615GCA[8] (p.Gln214dup)	ARID1B, LOC115308161	Microsatellite (non-coding transcript variant +1 more)	ARID1B-related condition +3 more	GBenign/Likely benign
Select item 126329	NM_001374828.1(ARID1B):c.615GCA[9] (p.Gln213_Gln214dup)	ARID1B, LOC115308161	Microsatellite (non-coding transcript variant +1 more)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 591725	NM_001374828.1(ARID1B):c.615GCA[4] (p.Gln212_Gln214del)	ARID1B, LOC115308161	Microsatellite (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3067216	NM_001374828.1(ARID1B):c.621G>A (p.Gln207=)	ARID1B, LOC115308161	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1335650	NM_001374828.1(ARID1B):c.624G>A (p.Gln208=)	ARID1B, LOC115308161	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1529480	NM_001374828.1(ARID1B):c.633_641dup (p.Gln212_Gln214dup)	ARID1B, LOC115308161	Duplication (non-coding transcript variant +1 more)	not provided	GLikely benign
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

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Items: 31