ClinVar for Gene (Select 84722) - ClinVar

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Links from Gene

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3311066	NM_001032291.3(PSRC1):c.827C>T (p.Pro276Leu)	PSRC1 (P276L +2 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 3311065	NM_001032291.3(PSRC1):c.286C>T (p.Arg96Trp)	PSRC1 (R96W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311064	NM_001032291.3(PSRC1):c.548C>A (p.Ala183Glu)	PSRC1 (A183E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220542	NM_001032291.3(PSRC1):c.887G>A (p.Arg296Gln)	PSRC1 (R326Q +2 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 3220541	NM_001032291.3(PSRC1):c.793C>T (p.Arg265Trp)	PSRC1 (P231L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220540	NM_001032291.3(PSRC1):c.616A>G (p.Ser206Gly)	PSRC1 (S206G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220539	NM_001032291.3(PSRC1):c.320G>A (p.Arg107Gln)	PSRC1 (R107Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220538	NM_001032291.3(PSRC1):c.235G>A (p.Asp79Asn)	PSRC1 (D79N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063454	GRCh37/hg19 1p13.3-13.2(chr1:109700156-112176616)x1	ADORA3, AHCYL1 +48 more	Copy number loss	not specified	GUncertain significance
Select item 2685555	GRCh37/hg19 1p13.3-13.2(chr1:109483388-112293512)x1	ADORA3, AHCYL1 +54 more	Copy number loss	not provided	GPathogenic
Select item 2638978	NM_001032291.3(PSRC1):c.79C>T (p.Arg27Cys)	PSRC1 (R27C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2610212	NM_001032291.3(PSRC1):c.765G>A (p.Arg255=)	PSRC1 (A222T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2560972	NM_001032291.3(PSRC1):c.885G>A (p.Val295=)	PSRC1 (A262T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2537467	NM_001032291.3(PSRC1):c.944C>T (p.Ala315Val)	PSRC1 (A315V +2 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2482884	NM_001032291.3(PSRC1):c.680C>G (p.Thr227Ser)	PSRC1 (T257S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480457	NM_001032291.3(PSRC1):c.256G>A (p.Ala86Thr)	PSRC1 (A86T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459700	NM_001032291.3(PSRC1):c.595G>C (p.Val199Leu)	PSRC1 (V199L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424031	NC_000001.10:g.(?_108679275)_(111674176_?)del	AHCYL1, AKNAD1 +52 more	Deletion	Hereditary spastic paraplegia 63 +1 more	GPathogenic
Select item 2407458	NM_001032291.3(PSRC1):c.989G>A (p.Gly330Glu)	PSRC1 (G314E +2 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2400011	NM_001032291.3(PSRC1):c.75C>G (p.Asp25Glu)	PSRC1 (D25E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396814	NM_001032291.3(PSRC1):c.47T>G (p.Leu16Trp)	PSRC1 (L16W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378899	NM_001032291.3(PSRC1):c.599G>A (p.Arg200Gln)	PSRC1 (R200Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370806	NM_001032291.3(PSRC1):c.559C>A (p.Pro187Thr)	PSRC1 (P187T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366529	NM_001032291.3(PSRC1):c.707C>T (p.Pro236Leu)	PSRC1 (P236L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362664	NM_001032291.3(PSRC1):c.481C>T (p.Arg161Trp)	PSRC1 (R161W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289008	NM_001032291.3(PSRC1):c.395A>C (p.Asn132Thr)	PSRC1 (N132T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289007	NM_001032291.3(PSRC1):c.347C>G (p.Thr116Ser)	PSRC1 (T116S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808862	GRCh37/hg19 1p13.3(chr1:109371874-109906234)x3	AKNAD1, CELSR2 +11 more	Copy number gain	not provided	GUncertain significance
Select item 1808154	GRCh37/hg19 1p13.3(chr1:109350810-109838970)x3	AKNAD1, CELSR2 +11 more	Copy number gain	not provided	GUncertain significance
Select item 1527171	GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931)	ADORA3, AGL +124 more	Copy number loss	not specified	GPathogenic
Select item 1340040	GRCh37/hg19 1p13.3(chr1:108346477-110177123)x1	AKNAD1, AMIGO1 +30 more	Copy number loss	not provided	GUncertain significance
Select item 1047871	GRCh37/hg19 1p21.2-12(chr1:102021465-119737478)	ATP1A1, RAP1A +131 more	Copy number loss	Seizure +1 more	GPathogenic
Select item 687687	GRCh37/hg19 1p13.3(chr1:109612444-109857815)x3	CELSR2, CFAP276 +7 more	Copy number gain	not provided	GUncertain significance
Select item 685222	GRCh37/hg19 1p13.3(chr1:109801239-109901996)x3	CELSR2, MYBPHL +2 more	Copy number gain	not provided	GUncertain significance
Select item 684474	Single allele	AHCYL1, AKNAD1 +47 more	Deletion	not provided	Gnot provided
Select item 635280	Single allele	KCNC4, LAMTOR5 +50 more	Deletion	1p13.3 deletion syndrome	GLikely pathogenic
Select item 545138	NC_000001.11:g.(?_103175204)_(111410059_?)del	AHCYL1, AKNAD1 +242 more	Deletion	Autism	GLikely pathogenic
Select item 443506	GRCh37/hg19 1p13.3(chr1:109343840-109868178)x3	AKNAD1, CELSR2 +12 more	Copy number gain	See cases	GUncertain significance
Select item 443336	GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3	ABCA4, ABCD3 +177 more	Copy number gain	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LINC01780, LINC02868 +563 more	Copy number gain	See cases	GPathogenic
Select item 154693	GRCh38/hg38 1p21.1-13.2(chr1:105468292-112190626)x1	ADORA3, AHCYL1 +274 more	Copy number loss	See cases	GPathogenic
Select item 149612	GRCh38/hg38 1p13.3(chr1:108970247-109794222)x3	AMIGO1, AMPD2 +72 more	Copy number gain	See cases	GUncertain significance
Select item 60009	GRCh38/hg38 1p21.1-13.3(chr1:106074587-110144290)x1	AHCYL1, AKNAD1 +148 more	Copy number loss	See cases	GPathogenic
Select item 60007	GRCh38/hg38 1p21.2-13.2(chr1:101618097-111703028)x1	ELAPOR1, EPS8L3 +276 more	Copy number loss	See cases	GPathogenic
Select item 60005	GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1	AGL, AHCYL1 +333 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 47