ClinVar for Gene (Select 151188) - ClinVar

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Links from Gene

Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3129590	NM_152522.7(ARL6IP6):c.89C>T (p.Ser30Phe)	ARL6IP6 (S30F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129589	NM_152522.7(ARL6IP6):c.620A>G (p.Tyr207Cys)	ARL6IP6 (Y207C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129588	NM_152522.7(ARL6IP6):c.5C>T (p.Ser2Leu)	ARL6IP6 (S2L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129587	NM_152522.7(ARL6IP6):c.577G>A (p.Ala193Thr)	ARL6IP6 (A162T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129586	NM_152522.7(ARL6IP6):c.332T>C (p.Ile111Thr)	ARL6IP6, LOC129934936 (I111T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3129585	NM_152522.7(ARL6IP6):c.296C>T (p.Ala99Val)	ARL6IP6 (A99V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129582	NM_152522.7(ARL6IP6):c.263A>C (p.Asn88Thr)	ARL6IP6 (N88T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129581	NM_152522.7(ARL6IP6):c.164T>G (p.Leu55Arg)	ARL6IP6 (L55R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129580	NM_152522.7(ARL6IP6):c.136G>A (p.Glu46Lys)	ARL6IP6 (E46K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062645	GRCh37/hg19 2q23.3(chr2:151626277-154149348)x1	ARL5A, ARL6IP6 +9 more	Copy number loss	not specified	GUncertain significance
Select item 2558969	NM_152522.7(ARL6IP6):c.300G>C (p.Gln100His)	ARL6IP6 (Q100H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548959	NM_152522.7(ARL6IP6):c.334C>A (p.Leu112Ile)	ARL6IP6, LOC129934936 (L112I)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2543565	NM_152522.7(ARL6IP6):c.209G>C (p.Arg70Pro)	ARL6IP6, LOC129934935 (R70P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528991	NM_152522.7(ARL6IP6):c.605C>G (p.Ser202Cys)	ARL6IP6 (S106C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2500155	NM_152522.7(ARL6IP6):c.373C>T (p.Leu125Phe)	ARL6IP6, LOC129934936 (L125F)	Single nucleotide variant (5 prime UTR variant +2 more)	Bardet-Biedl syndrome	GLikely pathogenic
Select item 2495878	NM_152522.7(ARL6IP6):c.574C>T (p.Pro192Ser)	ARL6IP6 (P96S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481364	NM_152522.7(ARL6IP6):c.163C>G (p.Leu55Val)	ARL6IP6 (L55V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478192	NM_152522.7(ARL6IP6):c.361C>A (p.Leu121Ile)	ARL6IP6, LOC129934936 (L121I)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2466087	NM_152522.7(ARL6IP6):c.277G>T (p.Ala93Ser)	ARL6IP6 (A93S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384961	NM_152522.7(ARL6IP6):c.166C>G (p.Arg56Gly)	ARL6IP6 (R56G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344051	NM_152522.7(ARL6IP6):c.200C>T (p.Pro67Leu)	ARL6IP6 (P67L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206968	NM_152522.7(ARL6IP6):c.536C>T (p.Ser179Phe)	ARL6IP6 (S83F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1339787	GRCh37/hg19 2q23.3-24.2(chr2:152967964-160089210)x3	ACVR1, ACVR1C +17 more	Copy number gain	not provided	Gnot provided
Select item 994393	NM_152522.7(ARL6IP6):c.341C>T (p.Ser114Leu)	ARL6IP6, LOC129934936 (S114L)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 814314	GRCh37/hg19 2q22.3-24.1(chr2:147173792-158346266)x1	ARL6IP6, CACNB4 +25 more	Copy number loss	not provided	GPathogenic
Select item 784457	NM_152522.7(ARL6IP6):c.167G>T (p.Arg56Leu)	ARL6IP6 (R56L)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 775761	NM_152522.7(ARL6IP6):c.401-8A>G	ARL6IP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 562665	GRCh37/hg19 2q23.2-23.3(chr2:150134077-154848282)x1	ARL5A, ARL6IP6 +14 more	Copy number loss	not provided	GLikely pathogenic
Select item 523163	GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1	CCDC74B, CCDC93 +218 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 372265	NM_152522.7(ARL6IP6):c.192G>A (p.Trp64Ter)	ARL6IP6 (W64*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 154597	GRCh38/hg38 2q23.3-24.2(chr2:151932344-159419734)x1	ACVR1, ACVR1C +147 more	Copy number loss	See cases	GPathogenic
Select item 154515	GRCh38/hg38 2q22.3-24.1(chr2:146324191-156219125)x3	ACVR2A, ARL5A +146 more	Copy number gain	See cases	GPathogenic
Select item 146076	GRCh38/hg38 2q22.3-24.1(chr2:143900149-158321624)x3	ACVR1, ACVR1C +238 more	Copy number gain	See cases	GPathogenic
Select item 60219	GRCh38/hg38 2q23.1-24.3(chr2:148917286-163204623)x1	ACVR1, ACVR1C +333 more	Copy number loss	See cases	GPathogenic
Select item 60217	GRCh38/hg38 2q22.3-23.3(chr2:147590324-153496674)x1	ACVR2A, ARL5A +119 more	Copy number loss	See cases	GPathogenic
Select item 60216	GRCh38/hg38 2q22.3-24.1(chr2:147251948-157856378)x1	ACVR1, ACVR1C +189 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 39