3799[Gene ID] - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	ABI1, ACBD5 +1221 more	Copy number gain	See cases	GBenign
Select item 150600	GRCh38/hg38 10p12.31-11.22(chr10:19088161-32732293)x3	ABI1, ACBD5 +376 more	Copy number gain	See cases	GLikely pathogenic
Select item 146088	GRCh38/hg38 10p11.22-11.1(chr10:31999920-38119681)x3	ANKRD30A, CCDC7 +119 more	Copy number gain	See cases	GPathogenic
Select item 3372116	NM_004521.3(KIF5B):c.2882A>G (p.Lys961Arg)	KIF5B (K961R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2347291	NM_004521.3(KIF5B):c.2863G>A (p.Val955Met)	KIF5B (V955M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114954	NM_004521.3(KIF5B):c.2861C>T (p.Ala954Val)	KIF5B (A954V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318663	NM_004521.3(KIF5B):c.2813G>A (p.Ser938Asn)	KIF5B (S938N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3342671	NM_004521.3(KIF5B):c.2565T>A (p.Asp855Glu)	KIF5B (D855E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3114953	NM_004521.3(KIF5B):c.2552G>T (p.Arg851Leu)	KIF5B (R851L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114952	NM_004521.3(KIF5B):c.2497T>A (p.Ser833Thr)	KIF5B, LOC126860907 (S833T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 716540	NM_004521.3(KIF5B):c.2475C>T (p.Ser825=)	KIF5B, LOC126860907	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3114951	NM_004521.3(KIF5B):c.2297A>G (p.His766Arg)	KIF5B (H766R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 242891	NM_004521.3(KIF5B):c.2252A>G (p.His751Arg)	KIF5B (H751R)	Single nucleotide variant (missense variant)	Brain atrophy +4 more	GLikely pathogenic
Select item 2222086	NM_004521.3(KIF5B):c.2192C>T (p.Thr731Ile)	KIF5B (T731I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543190	NM_004521.3(KIF5B):c.2168T>C (p.Val723Ala)	KIF5B (V723A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335993	NM_004521.3(KIF5B):c.2112G>T (p.Gln704His)	KIF5B (Q704H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292218	NM_004521.3(KIF5B):c.2108A>G (p.Gln703Arg)	KIF5B (Q703R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3365624	NM_004521.3(KIF5B):c.2095C>T (p.Gln699Ter)	KIF5B (Q699*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3343227	NM_004521.3(KIF5B):c.2032+1delinsTT	KIF5B	Indel (splice donor variant)	not provided	GUncertain significance
Select item 2611942	NM_004521.3(KIF5B):c.1943A>C (p.Glu648Ala)	KIF5B (E648A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3342647	NM_004521.3(KIF5B):c.1829A>G (p.Gln610Arg)	KIF5B (Q610R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2292886	NM_004521.3(KIF5B):c.1766T>C (p.Val589Ala)	KIF5B (V589A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546272	NM_004521.3(KIF5B):c.1744A>G (p.Met582Val)	KIF5B (M582V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1302449	NM_004521.3(KIF5B):c.1726-5T>C	KIF5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3363932	NM_004521.3(KIF5B):c.1669_1689del (p.Ser557_Ala563del)	KIF5B	Deletion	not provided	GUncertain significance
Select item 2554977	NM_004521.3(KIF5B):c.1654G>T (p.Ala552Ser)	KIF5B (A552S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114950	NM_004521.3(KIF5B):c.1615A>C (p.Lys539Gln)	KIF5B (K539Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1691097	NM_004521.3(KIF5B):c.1610T>C (p.Leu537Pro)	KIF5B (L537P)	Single nucleotide variant (missense variant)	Global developmental delay +5 more	GPathogenic
Select item 2335049	NM_004521.3(KIF5B):c.1597A>C (p.Ile533Leu)	KIF5B (I533L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549079	NM_004521.3(KIF5B):c.1589T>C (p.Leu530Ser)	KIF5B (L530S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640398	NM_004521.3(KIF5B):c.1580C>T (p.Ser527Leu)	KIF5B (S527L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1691098	NM_004521.3(KIF5B):c.1493T>C (p.Leu498Pro)	KIF5B (L498P)	Single nucleotide variant (missense variant)	Feeding difficulties +3 more	GPathogenic
Select item 1966889	NM_004521.3(KIF5B):c.1441A>C (p.Asn481His)	KIF5B (N481H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3288652	NM_004521.3(KIF5B):c.1436C>T (p.Ala479Val)	KIF5B (A479V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366908	NM_004521.3(KIF5B):c.1352C>T (p.Thr451Met)	KIF5B (T451M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288653	NM_004521.3(KIF5B):c.1339G>C (p.Glu447Gln)	KIF5B (E447Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114949	NM_004521.3(KIF5B):c.1246G>A (p.Ala416Thr)	KIF5B (A416T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295773	NM_004521.3(KIF5B):c.1216G>A (p.Ala406Thr)	KIF5B (A406T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3114948	NM_004521.3(KIF5B):c.1199A>G (p.Asn400Ser)	KIF5B (N400S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537735	NM_004521.3(KIF5B):c.892A>G (p.Ile298Val)	KIF5B (I298V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611322	NM_004521.3(KIF5B):c.865T>G (p.Ser289Ala)	KIF5B (S289A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3370124	NM_004521.3(KIF5B):c.833G>A (p.Arg278Gln)	KIF5B (R278Q)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 986389	NM_004521.3(KIF5B):c.762CAA[1] (p.Asn255del)	KIF5B (N255del)	Microsatellite (inframe_deletion)	Primary dilated cardiomyopathy +4 more	GPathogenic/Likely pathogenic
Select item 3342614	NM_004521.3(KIF5B):c.755A>C (p.Lys252Thr)	KIF5B (K252T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580234	NM_004521.3(KIF5B):c.260C>T (p.Thr87Ile)	KIF5B (T87I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2612153	NM_004521.3(KIF5B):c.243A>G (p.Ile81Met)	KIF5B (I81M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483200	NM_004521.3(KIF5B):c.156C>G (p.Phe52Leu)	KIF5B, LOC126860908 (F52L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114955	NM_004521.3(KIF5B):c.52C>T (p.Leu18Phe)	KIF5B, LOC130003643 (L18F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3342244	GRCh37/hg19 10p11.22(chr10:32304457-32310215)x1	KIF5B	Copy number loss	not provided	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1527577	GRCh37/hg19 10p15.1-11.21(chr10:6273934-34732521)	ABI1, ACBD5 +111 more	Copy number gain	not specified	GPathogenic
Select item 1339781	GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	ARL5B, LARP4B +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
Select item 1328108	GRCh37/hg19 10p11.23-11.22(chr10:30624523-33688350)x1	ARHGAP12, CCDC7 +9 more	Copy number loss	not provided	GPathogenic
Select item 563765	GRCh37/hg19 10p11.22(chr10:31425682-32599180)x1	KIF5B, ZEB1 +2 more	Copy number loss	not provided	GPathogenic
Select item 443260	GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3	ABI1, ACBD5 +205 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 221475	GRCh37/hg19 10p11.22-11.21(chr10:32323692-37520394)x3	CREM, CUL2 +10 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 3360453	NM_004521.3(KIF5B):c.256C>A (p.Gln86Lys)	KIF5B (Q86K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359832	NM_004521.3(KIF5B):c.1260G>C (p.Lys420Asn)	KIF5B (K420N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 62