CASS4[gene] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065566, LOC130065567 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	LOC125387319, LOC125387320 +1024 more	Copy number gain	See cases	GPathogenic
Select item 155517	GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3	ABHD16B, ADRM1 +553 more	Copy number gain	See cases	GLikely pathogenic
Select item 152492	GRCh38/hg38 20q13.2-13.32(chr20:54594888-58190583)x1	AURKA, BMP7 +91 more	Copy number loss	See cases	GPathogenic
Select item 146317	GRCh38/hg38 20q13.2-13.33(chr20:55630597-60941207)x3	ANKRD60, APCDD1L +175 more	Copy number gain	See cases	GLikely pathogenic
Select item 148973	GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3	ABHD16B, ADRM1 +491 more	Copy number gain	See cases	GPathogenic
Select item 2342643	NM_020356.4(CASS4):c.16A>G (p.Ile6Val)	CASS4 (I6V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2277883	NM_020356.4(CASS4):c.47C>A (p.Ala16Asp)	CASS4 (A16D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2618417	NM_020356.4(CASS4):c.118A>G (p.Ile40Val)	CASS4 (I40V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495348	NM_020356.4(CASS4):c.200G>A (p.Arg67His)	CASS4 (R67H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 778896	NM_020356.4(CASS4):c.213C>T (p.Leu71=)	CASS4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2366586	NM_020356.4(CASS4):c.245C>A (p.Pro82Gln)	CASS4 (P82Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2593153	NM_020356.4(CASS4):c.313C>T (p.Arg105Cys)	CASS4 (R105C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2535236	NM_020356.4(CASS4):c.550G>A (p.Val184Met)	CASS4 (V130M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351135	NM_020356.4(CASS4):c.626C>G (p.Pro209Arg)	CASS4 (P155R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477107	NM_020356.4(CASS4):c.662T>C (p.Ile221Thr)	CASS4 (I167T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2615552	NM_020356.4(CASS4):c.709C>A (p.Pro237Thr)	CASS4 (P237T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2399184	NM_020356.4(CASS4):c.737C>T (p.Thr246Ile)	CASS4 (T192I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2359330	NM_020356.4(CASS4):c.773C>T (p.Thr258Met)	CASS4 (T258M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2519415	NM_020356.4(CASS4):c.791C>T (p.Ala264Val)	CASS4 (A210V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2263910	NM_020356.4(CASS4):c.797A>C (p.Glu266Ala)	CASS4 (E212A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2370465	NM_020356.4(CASS4):c.826A>G (p.Ser276Gly)	CASS4 (S222G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2287780	NM_020356.4(CASS4):c.832A>G (p.Thr278Ala)	CASS4 (T278A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2281898	NM_020356.4(CASS4):c.1067C>T (p.Thr356Met)	CASS4 (T356M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2528170	NM_020356.4(CASS4):c.1129G>A (p.Ala377Thr)	CASS4 (A377T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 729002	NM_020356.4(CASS4):c.1232C>G (p.Ser411Cys)	CASS4 (S411C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2242045	NM_020356.4(CASS4):c.1274C>T (p.Ser425Phe)	CASS4 (S371F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 777599	NM_020356.4(CASS4):c.1277C>T (p.Ser426Leu)	CASS4 (S372L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2542761	NM_020356.4(CASS4):c.1314T>A (p.Asp438Glu)	CASS4 (D438E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2540761	NM_020356.4(CASS4):c.1354G>A (p.Val452Ile)	CASS4 (V398I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 788688	NM_020356.4(CASS4):c.1472G>A (p.Arg491Lys)	CASS4 (R437K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2274790	NM_020356.4(CASS4):c.1529G>A (p.Ser510Asn)	CASS4 (S456N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2361838	NM_020356.4(CASS4):c.1583G>A (p.Arg528His)	CASS4 (R474H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 778178	NM_020356.4(CASS4):c.1583G>T (p.Arg528Leu)	CASS4 (R474L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2528876	NM_020356.4(CASS4):c.1768C>T (p.Arg590Trp)	CASS4 (R536W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 757485	NM_020356.4(CASS4):c.1806A>G (p.Pro602=)	CASS4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2250912	NM_020356.4(CASS4):c.1843C>T (p.Pro615Ser)	CASS4 (P615S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2347430	NM_020356.4(CASS4):c.2065G>A (p.Ala689Thr)	CASS4 (A635T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401151	NM_020356.4(CASS4):c.2091C>G (p.Ser697Arg)	CASS4 (S260R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531831	NM_020356.4(CASS4):c.2110A>G (p.Thr704Ala)	CASS4 (T704A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516101	NM_020356.4(CASS4):c.2114A>G (p.Gln705Arg)	CASS4 (Q651R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325779	NM_020356.4(CASS4):c.2131A>G (p.Met711Val)	CASS4 (M274V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283139	NM_020356.4(CASS4):c.2318A>G (p.Lys773Arg)	CASS4 (K336R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312420	NM_020356.4(CASS4):c.2335C>T (p.Arg779Trp)	CASS4 (R725W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2580344	GRCh37/hg19 20q13.2-13.33(chr20:52773668-62965020)x3	ABHD16B, ADRM1 +113 more	Copy number gain	See cases	GUncertain significance
Select item 1809070	GRCh37/hg19 20q13.2-13.31(chr20:52517925-55402822)x3	AURKA, BCAS1 +13 more	Copy number gain	not provided	GUncertain significance
Select item 1374167	NC_000020.10:g.(?_54823900)_(57899514_?)del	ANKRD60, APCDD1L +36 more	Deletion	not provided	GUncertain significance
Select item 1180535	GRCh37/hg19 20q13.2-13.33(chr20:51799648-62916626)x3	GATA5, ZBTB46 +116 more	Copy number gain	not provided	GPathogenic
Select item 625661	GRCh37/hg19 20q13.2-13.33(chr20:54143747-62194881)	ADRM1, ANKRD60 +86 more	Copy number gain	not provided	GPathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	KIF3B, KIZ +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 442642	GRCh37/hg19 20q13.2-13.31(chr20:54541125-55162415)x3	AURKA, CASS4 +8 more	Copy number gain	See cases	GUncertain significance
Select item 441724	GRCh37/hg19 20q13.2-13.33(chr20:51542616-62915555)x3	ABHD16B, ADRM1 +116 more	Copy number gain	See cases	GLikely pathogenic

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Items: 53