ClinVar for Gene (Select 8559) - ClinVar

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Links from Gene

Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3220924	NM_018027.5(FRMD4A):c.3078delinsCATTCT (p.Asp1027fs)	FRMD4A, PRPF18 (D1027fs +3 more)	Indel (frameshift variant)	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome	GLikely pathogenic
Select item 3219138	NM_003675.4(PRPF18):c.233C>T (p.Thr78Met)	PRPF18 (T2M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3096914	NM_018027.5(FRMD4A):c.2999T>C (p.Ile1000Thr)	FRMD4A, PRPF18 (I1016T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096913	NM_018027.5(FRMD4A):c.2956G>A (p.Ala986Thr)	FRMD4A, PRPF18 (A1002T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063130	GRCh37/hg19 10p13(chr10:13354180-14394498)x1	BEND7, FRMD4A +2 more	Copy number loss	not specified	GUncertain significance
Select item 3057736	NM_018027.5(FRMD4A):c.*2+6G>A	FRMD4A, PRPF18	Single nucleotide variant (intron variant)	FRMD4A-related disorder	GLikely benign
Select item 2623936	NM_003675.4(PRPF18):c.71A>G (p.Asn24Ser)	PRPF18 (N9S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2601932	NM_003675.4(PRPF18):c.569A>G (p.Lys190Arg)	PRPF18 (K175R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	PIK3AP1, SVIL +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	RRP12, USP54 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2556158	NM_018027.5(FRMD4A):c.2984C>T (p.Thr995Ile)	FRMD4A, PRPF18 (T1011I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542174	NM_003675.4(PRPF18):c.1018A>G (p.Asn340Asp)	PRPF18 (N316D +10 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2516897	NM_003675.4(PRPF18):c.592G>A (p.Val198Ile)	PRPF18 (V145I +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2479490	NM_003675.4(PRPF18):c.512C>T (p.Ala171Val)	PRPF18 (A118V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467531	NM_018027.5(FRMD4A):c.3013C>T (p.Pro1005Ser)	FRMD4A, PRPF18 (P1005S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317504	NM_003675.4(PRPF18):c.979A>G (p.Lys327Glu)	PRPF18 (K336E +10 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2317125	NM_003675.4(PRPF18):c.118G>A (p.Ala40Thr)	PRPF18 (A25T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2267817	NM_003675.4(PRPF18):c.476T>C (p.Val159Ala)	PRPF18 (V144A +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205591	NM_003675.4(PRPF18):c.748A>G (p.Ile250Val)	PRPF18 (I174V +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
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	ACBD7, ABI1 +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
Select item 1175135	NM_018027.5(FRMD4A):c.*2+5C>T	FRMD4A, PRPF18	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1047870	GRCh37/hg19 10p14-13(chr10:9137489-17227168)	ACBD7, BEND7 +36 more	Copy number loss	Neurodevelopmental delay	GPathogenic
Select item 785306	NM_018027.5(FRMD4A):c.3065A>T (p.Asn1022Ile)	FRMD4A, PRPF18 (N1022I +3 more)	Single nucleotide variant (missense variant)	FRMD4A-related disorder +1 more	GBenign
Select item 689175	GRCh37/hg19 10p13(chr10:13551991-13716316)x3	FRMD4A, PRPF18	Copy number gain	not provided	GUncertain significance
Select item 688300	GRCh37/hg19 10p13(chr10:13469262-13747769)x1	BEND7, FRMD4A +1 more	Copy number loss	not provided	GUncertain significance
Select item 687391	GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3	ACBD7, ADARB2 +68 more	Copy number gain	not provided	GPathogenic
Select item 687363	GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3	WDR37, ZMYND11 +68 more	Copy number gain	not provided	GPathogenic
Select item 685910	GRCh37/hg19 10p13(chr10:13635533-13696343)x3	FRMD4A, PRPF18	Copy number gain	not provided	GUncertain significance
Select item 685426	GRCh37/hg19 10p13(chr10:13658918-13729967)x3	FRMD4A, PRPF18	Copy number gain	not provided	GUncertain significance
Select item 599307	Single allele	ITIH2, ITIH5 +72 more	Deletion	Hypoparathyroidism, deafness, renal disease syndrome	GPathogenic
Select item 563781	GRCh37/hg19 10p13(chr10:12802555-14847149)x1	OPTN, BEND7 +9 more	Copy number loss	not provided	GUncertain significance
Select item 563743	GRCh37/hg19 10p13(chr10:13635533-14032016)x3	PRPF18, FRMD4A	Copy number gain	not provided	GUncertain significance
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)	A1CF, ABCC2 +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	BCCIP, BEND7 +722 more	Copy number gain	See cases	GPathogenic
Select item 155636	GRCh38/hg38 10p15.3-12.31(chr10:54086-19336980)x1	PROSER2-AS1, PRPF18 +680 more	Copy number loss	See cases	GPathogenic
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	AGAP4, AGAP9 +1221 more	Copy number gain	See cases	GBenign
Select item 150048	GRCh38/hg38 10p15.3-13(chr10:70478-13736564)x1	LOC130003277, LOC130003278 +520 more	Copy number loss	See cases	GPathogenic
Select item 149407	GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3	ACBD7, ACBD7-DCLRE1CP1 +837 more	Copy number gain	See cases	GPathogenic
Select item 148232	GRCh38/hg38 10p14-12.31(chr10:7428770-21587752)x1	ACBD7, ACBD7-DCLRE1CP1 +388 more	Copy number loss	See cases	GPathogenic
Select item 144993	GRCh38/hg38 10p13(chr10:12333253-13948472)x1	BEND7, BEND7-DT +69 more	Copy number loss	See cases	GLikely pathogenic
Select item 59657	GRCh38/hg38 10p15.3-12.31(chr10:69261-19184047)x3	LOC126860819, LOC126860820 +680 more	Copy number gain	See cases	GPathogenic
Select item 58717	GRCh38/hg38 10p15.1-13(chr10:4802753-16823491)x1	LOC130003217, LOC130003218 +482 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 45