RIC8A[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	LOC130005128, LOC130005129 +723 more	Copy number gain	See cases	GPathogenic
Select item 154856	GRCh38/hg38 11p15.5(chr11:196855-2116185)x3	LOC130005114, LOC130005115 +204 more	Copy number gain	See cases	GPathogenic
Select item 154823	GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3	LOC111718490, LOC112067719 +388 more	Copy number gain	See cases	GPathogenic
Select item 161085	GRCh38/hg38 11p15.5(chr11:196966-244236)x1	BET1L, CIMAP1A +8 more	Copy number loss	See cases	GUncertain significance
Select item 144144	GRCh38/hg38 11p15.5(chr11:196966-244236)x3	BET1L, CIMAP1A +8 more	Copy number gain	See cases	GBenign
Select item 57951	GRCh38/hg38 11p15.5(chr11:196966-251588)x3	BET1L, CIMAP1A +8 more	Copy number gain	See cases	GUncertain significance
Select item 57274	GRCh38/hg38 11p15.5-15.4(chr11:196966-3377077)x3	LOC130005104, LOC130005105 +271 more	Copy number gain	See cases	GPathogenic
Select item 57258	GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3	STIM1-AS1, SYT8 +332 more	Copy number gain	See cases	GPathogenic
Select item 151347	GRCh38/hg38 11p15.5(chr11:200222-237805)x3	BET1L, CIMAP1A +8 more	Copy number gain	See cases	GBenign
Select item 2524835	NM_001286134.2(RIC8A):c.49G>A (p.Val17Met)	RIC8A (V17M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342286	NM_001286134.2(RIC8A):c.62C>T (p.Ala21Val)	RIC8A (A21V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2613381	NM_001286134.2(RIC8A):c.85C>A (p.His29Asn)	RIC8A (H29N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2280392	NM_001286134.2(RIC8A):c.368A>G (p.Asn123Ser)	RIC8A (N127S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217482	NM_001286134.2(RIC8A):c.381C>G (p.Ser127Arg)	RIC8A (S127R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154208	NM_001286134.2(RIC8A):c.391G>C (p.Ala131Pro)	RIC8A (A21P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154209	NM_001286134.2(RIC8A):c.398T>G (p.Met133Arg)	RIC8A (M23R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154210	NM_001286134.2(RIC8A):c.634C>A (p.Leu212Ile)	RIC8A (L102I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362566	NM_001286134.2(RIC8A):c.649G>A (p.Glu217Lys)	RIC8A (E107K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394135	NM_001286134.2(RIC8A):c.664A>G (p.Met222Val)	RIC8A (M222V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154211	NM_001286134.2(RIC8A):c.712G>A (p.Gly238Arg)	RIC8A (G242R +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2590338	NM_001286134.2(RIC8A):c.718G>A (p.Val240Met)	RIC8A (V130M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591208	NM_001286134.2(RIC8A):c.739C>T (p.Leu247Phe)	RIC8A (L247F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546596	NM_001286134.2(RIC8A):c.750C>G (p.His250Gln)	RIC8A (H140Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249898	NM_001286134.2(RIC8A):c.784G>A (p.Ala262Thr)	RIC8A (A262T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397329	NM_001286134.2(RIC8A):c.800G>A (p.Arg267His)	RIC8A (R157H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154200	NM_001286134.2(RIC8A):c.1001T>G (p.Val334Gly)	RIC8A (V224G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613559	NM_001286134.2(RIC8A):c.1030A>C (p.Met344Leu)	RIC8A (M234L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293181	NM_001286134.2(RIC8A):c.1066-5C>T	RIC8A (P360L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154201	NM_001286134.2(RIC8A):c.1190T>C (p.Phe397Ser)	RIC8A (F397S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154202	NM_001286134.2(RIC8A):c.1214C>T (p.Pro405Leu)	RIC8A (P409L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483802	NM_001286134.2(RIC8A):c.1321A>G (p.Thr441Ala)	RIC8A (T447A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154203	NM_001286134.2(RIC8A):c.1346C>G (p.Ala449Gly)	RIC8A (A339G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408980	NM_001286134.2(RIC8A):c.1384G>A (p.Glu462Lys)	RIC8A (E352K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154204	NM_001286134.2(RIC8A):c.1511G>A (p.Arg504Gln)	RIC8A (R394Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154205	NM_001286134.2(RIC8A):c.1529T>C (p.Leu510Pro)	RIC8A (L400P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154206	NM_001286134.2(RIC8A):c.1541T>C (p.Met514Thr)	RIC8A (M514T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154207	NM_001286134.2(RIC8A):c.1546G>C (p.Glu516Gln)	RIC8A (E406Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460932	NM_001286134.2(RIC8A):c.1546G>A (p.Glu516Lys)	RIC8A (E406K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523409	NM_001286134.2(RIC8A):c.1559A>G (p.Gln520Arg)	RIC8A (Q524R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330674	NM_001286134.2(RIC8A):c.1577C>T (p.Pro526Leu)	RIC8A (P530L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684632	GRCh37/hg19 11p15.5-15.4(chr11:192764-3362853)x3	ANO9, AP2A2 +89 more	Copy number gain	not provided	GPathogenic
Select item 981209	GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3	IFITM3, OR52D1 +208 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 688993	GRCh37/hg19 11p15.5(chr11:210898-461373)x3	ANO9, B4GALNT4 +12 more	Copy number gain	not provided	GUncertain significance
Select item 625559	GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)	ADM, AKIP1 +243 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 624552	GRCh37/hg19 11p15.5(chr11:210300-487062)x3	ANO9, B4GALNT4 +12 more	Copy number gain	not provided	GUncertain significance
Select item 394007	GRCh37/hg19 11p15.5-15.4(chr11:193187-5291338)x3	B4GALNT4, BET1L +132 more	Copy number gain	See cases	GPathogenic
Select item 393875	GRCh37/hg19 11p15.5(chr11:193842-475940)x3	ANO9, B4GALNT4 +15 more	Copy number gain	See cases	GLikely benign
Select item 253707	GRCh37/hg19 11p15.5(chr11:193142-299384)x3	RIC8A, PGGHG +7 more	Copy number gain	See cases	GUncertain significance

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Items: 48