GPR152[gene] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154814	GRCh38/hg38 11q13.1-13.2(chr11:65741431-67705669)x1	GAL3ST3, GPR152 +282 more	Copy number loss	See cases	GPathogenic
Select item 59757	GRCh38/hg38 11q13.2(chr11:66193502-67890770)x3	ACTN3, ACY3 +212 more	Copy number gain	See cases	GPathogenic
Select item 58892	GRCh38/hg38 11q13.2(chr11:66885910-67698250)x1	ACY3, AIP +129 more	Copy number loss	See cases	GPathogenic
Select item 146304	GRCh38/hg38 11q13.2-13.3(chr11:67217264-69448598)x1	ACY3, AIP +206 more	Copy number loss	See cases	GLikely pathogenic
Select item 147720	GRCh38/hg38 11q13.2(chr11:67397196-67644438)x1	LOC130006216, LOC130006217 +54 more	Copy number loss	See cases	GBenign
Select item 58893	GRCh38/hg38 11q13.2(chr11:67446153-68679073)x1	ACY3, AIP +98 more	Copy number loss	See cases	GPathogenic
Select item 3101496	NM_206997.1(GPR152):c.1394C>T (p.Pro465Leu)	GPR152 (P465L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252797	NM_206997.1(GPR152):c.1330G>A (p.Asp444Asn)	GPR152 (D444N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3282257	NM_206997.1(GPR152):c.1309C>G (p.Pro437Ala)	GPR152 (P437A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339310	NM_206997.1(GPR152):c.1303T>A (p.Ser435Thr)	GPR152 (S435T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3101495	NM_206997.1(GPR152):c.1234G>A (p.Val412Ile)	GPR152 (V412I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316487	NM_206997.1(GPR152):c.1202A>C (p.Asp401Ala)	GPR152 (D401A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225391	NM_206997.1(GPR152):c.1193C>A (p.Pro398Gln)	GPR152 (P398Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225390	NM_206997.1(GPR152):c.1192C>G (p.Pro398Ala)	GPR152 (P398A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101494	NM_206997.1(GPR152):c.1153G>A (p.Asp385Asn)	GPR152 (D385N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2408216	NM_206997.1(GPR152):c.965C>T (p.Pro322Leu)	GPR152 (P322L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517827	NM_206997.1(GPR152):c.932C>T (p.Ser311Leu)	GPR152 (S311L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101502	NM_206997.1(GPR152):c.868C>T (p.Leu290Phe)	GPR152 (L290F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410399	NM_206997.1(GPR152):c.709C>T (p.Arg237Cys)	GPR152 (R237C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101501	NM_206997.1(GPR152):c.707C>A (p.Ala236Asp)	GPR152 (A236D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380128	NM_206997.1(GPR152):c.689C>A (p.Ala230Glu)	GPR152 (A230E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101500	NM_206997.1(GPR152):c.683A>G (p.Gln228Arg)	GPR152 (Q228R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3101499	NM_206997.1(GPR152):c.671A>T (p.His224Leu)	GPR152 (H224L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101498	NM_206997.1(GPR152):c.649G>A (p.Ala217Thr)	GPR152 (A217T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549274	NM_206997.1(GPR152):c.628G>A (p.Val210Ile)	GPR152 (V210I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347790	NM_206997.1(GPR152):c.568G>A (p.Glu190Lys)	GPR152 (E190K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344197	NM_206997.1(GPR152):c.532G>A (p.Asp178Asn)	GPR152 (D178N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539218	NM_206997.1(GPR152):c.398C>T (p.Ala133Val)	GPR152 (A133V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560633	NM_206997.1(GPR152):c.352G>A (p.Gly118Ser)	GPR152 (G118S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101497	NM_206997.1(GPR152):c.334G>A (p.Gly112Ser)	GPR152 (G112S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533206	NM_206997.1(GPR152):c.266T>C (p.Leu89Pro)	CABP4, GPR152 (L89P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357316	NM_206997.1(GPR152):c.193C>T (p.Arg65Cys)	CABP4, GPR152 (R65C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282258	NM_206997.1(GPR152):c.191C>T (p.Thr64Met)	CABP4, GPR152 (T64M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 802691	NC_000011.10:g.67452544C>T	CABP4, GPR152 (G61R)	Single nucleotide variant (missense variant +1 more)	Cone-rod synaptic disorder, congenital nonprogressive +1 more	GBenign
Select item 2519515	NM_206997.1(GPR152):c.180T>A (p.His60Gln)	CABP4, GPR152 (H60Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2480630	NM_206997.1(GPR152):c.161C>T (p.Ala54Val)	CABP4, GPR152 (A54V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407519	NM_206997.1(GPR152):c.57G>C (p.Glu19Asp)	CABP4, GPR152 (E19D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2424770	NC_000011.9:g.(?_64973914)_(70052579_?)dup	ACTN3, ACY3 +124 more	Duplication	Aicardi-Goutieres syndrome 3 +1 more	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815437	GRCh37/hg19 11q13.2(chr11:66820585-67979510)x3	ALDH3B2, ACY3 +32 more	Copy number gain	not provided	GUncertain significance
Select item 687044	GRCh37/hg19 11q13.2(chr11:67081259-67471729)x3	ACY3, AIP +21 more	Copy number gain	not provided	GUncertain significance
Select item 625593	GRCh37/hg19 11q13.1-13.2(chr11:65138976-67574402)	ACTN3, ACY3 +94 more	Copy number gain	not provided	GPathogenic
Select item 563826	GRCh37/hg19 11q13.2(chr11:67161003-67349899)x1	TBC1D10C, GPR152 +12 more	Copy number loss	not provided	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 253811	GRCh37/hg19 11q13.2(chr11:66024774-67430781)x3	ACTN3, ACY3 +57 more	Copy number gain	See cases	GUncertain significance

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Items: 49