ClinVar for Gene (Select 149345) - ClinVar

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Links from Gene

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3318285	NM_198149.3(SHISA4):c.247C>T (p.Pro83Ser)	SHISA4 (P83S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318284	NM_198149.3(SHISA4):c.509C>T (p.Pro170Leu)	SHISA4 (P170L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	ADIPOR1, ADORA1 +185 more	Deletion	not provided	GPathogenic
Select item 3161711	NM_198149.3(SHISA4):c.455C>A (p.Ala152Glu)	SHISA4 (A152E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161709	NM_198149.3(SHISA4):c.443A>C (p.Lys148Thr)	SHISA4 (K148T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161708	NM_198149.3(SHISA4):c.347G>A (p.Arg116His)	SHISA4 (R116H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161707	NM_198149.3(SHISA4):c.212C>A (p.Thr71Asn)	SHISA4 (T71N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161706	NM_198149.3(SHISA4):c.10G>T (p.Ala4Ser)	LOC112577530, SHISA4 (A4S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062955	GRCh37/hg19 1q32.1(chr1:199373229-204335027)x3	ADIPOR1, ADORA1 +58 more	Copy number gain	not specified	GLikely pathogenic
Select item 3062655	GRCh37/hg19 1q31.3-32.1(chr1:197216705-203683110)x1	ADIPOR1, ADORA1 +57 more	Copy number loss	not specified	GLikely pathogenic
Select item 2608063	NM_198149.3(SHISA4):c.551C>T (p.Pro184Leu)	SHISA4 (P184L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525477	NM_198149.3(SHISA4):c.386A>C (p.Glu129Ala)	SHISA4 (E129A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2425293	NC_000001.10:g.(?_200522516)_(206945780_?)dup	EIF2D, ELF3 +90 more	Duplication	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 2422293	NC_000001.10:g.(?_200522516)_(208391267_?)dup	ADIPOR1, ADORA1 +110 more	Duplication	not provided	GUncertain significance
Select item 2388780	NM_198149.3(SHISA4):c.452C>G (p.Pro151Arg)	SHISA4 (P151R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249724	NM_198149.3(SHISA4):c.442A>G (p.Lys148Glu)	SHISA4 (K148E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	ASPM, IPO9 +211 more	Copy number gain	not provided	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	NUCKS1, NUDT17 +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 972964	GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3	CD34, MDM4 +145 more	Copy number gain	not provided	Gnot provided
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 565211	GRCh37/hg19 1q32.1(chr1:200873507-201947585)x3	ASCL5, CACNA1S +15 more	Copy number gain	not provided	GUncertain significance
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 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	AVPR1B, B3GALNT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic
Select item 144143	GRCh38/hg38 1q32.1(chr1:200144603-203112078)x1	LOC120893174, LOC122149340 +166 more	Copy number loss	See cases	GPathogenic
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57818	GRCh38/hg38 1q32.1(chr1:201226425-202014204)x3	CSRP1, CSRP1-AS1 +49 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 29