1286[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC110120629, LOC110120691 +986 more	Copy number gain	See cases	GPathogenic
Select item 152845	GRCh38/hg38 2q36.3(chr2:226913957-226978129)x1	COL4A4, LOC129389001 +2 more	Copy number loss	See cases	GUncertain significance
Select item 58847	GRCh38/hg38 2q36.3-37.3(chr2:226978129-236886599)x1	ACKR3, AGAP1 +393 more	Copy number loss	See cases	GPathogenic
Select item 3314159	NM_001167608.3(RHBDD1):c.881C>A (p.Pro294His)	COL4A4, LOC126806538 +1 more (P294H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769592	NM_001167608.3(RHBDD1):c.897C>T (p.Leu299=)	COL4A4, LOC126806538 +1 more	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2251947	NM_001167608.3(RHBDD1):c.910A>G (p.Met304Val)	COL4A4, LOC126806538 +1 more (M304V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 334637	NM_000092.5(COL4A4):c.*4602C>G	COL4A4	Single nucleotide variant (3 prime UTR variant)	Alport syndrome +1 more	GBenign
Select item 895361	NM_000092.5(COL4A4):c.*4599T>C	COL4A4	Single nucleotide variant (3 prime UTR variant)	Alport syndrome	GUncertain significance
Select item 334638	NM_000092.5(COL4A4):c.*4583A>G	COL4A4	Single nucleotide variant (3 prime UTR variant)	Alport syndrome	GUncertain significance
Select item 895362	NM_000092.5(COL4A4):c.*4545A>G	COL4A4	Single nucleotide variant (3 prime UTR variant)	Alport syndrome	GUncertain significance
Select item 334639	NM_000092.5(COL4A4):c.*4534T>C	COL4A4	Single nucleotide variant (3 prime UTR variant)	Alport syndrome	GUncertain significance
Select item 895363	NM_000092.5(COL4A4):c.*4498T>C	COL4A4	Single nucleotide variant (3 prime UTR variant)	Alport syndrome	GUncertain significance
Select item 334640	NM_000092.5(COL4A4):c.4491_4494dup	COL4A4	Duplication (3 prime UTR variant)	Alport syndrome	GLikely benign
Select item 334641	NM_000092.5(COL4A4):c.*4393G>T	COL4A4	Single nucleotide variant (3 prime UTR variant)	Alport syndrome	GUncertain significance
Select item 334642	NM_000092.5(COL4A4):c.*4385A>G	COL4A4	Single nucleotide variant (3 prime UTR variant)	Alport syndrome	GUncertain significance
Select item 334643	NM_000092.5(COL4A4):c.*4369C>T	COL4A4	Single nucleotide variant (3 prime UTR variant)	Alport syndrome	GUncertain significance
Select item 896770	NM_000092.5(COL4A4):c.*4363G>C	COL4A4	Single nucleotide variant (3 prime UTR variant)	Alport syndrome	GUncertain significance
Select item 896771	NM_000092.5(COL4A4):c.*4347C>T	COL4A4	Single nucleotide variant (3 prime UTR variant)	Alport syndrome	GUncertain significance
Select item 334644	NM_000092.5(COL4A4):c.*4322C>T	COL4A4	Single nucleotide variant (3 prime UTR variant)	Alport syndrome +1 more	GBenign
Select item 896772	NM_000092.5(COL4A4):c.*4194C>T	COL4A4	Single nucleotide variant (3 prime UTR variant)	Alport syndrome +1 more	GConflicting classifications of pathogenicity
Select item 334645	NM_000092.5(COL4A4):c.*4173A>T	COL4A4	Single nucleotide variant (3 prime UTR variant)	Alport syndrome	GUncertain significance
Select item 334646	NM_000092.5(COL4A4):c.*4164C>T	COL4A4	Single nucleotide variant (3 prime UTR variant)	Alport syndrome +1 more	GLikely benign
Select item 334647	NM_000092.5(COL4A4):c.*4135A>T	COL4A4	Single nucleotide variant (3 prime UTR variant)	Alport syndrome	GUncertain significance
Select item 334648	NM_000092.5(COL4A4):c.*4106C>A	COL4A4	Single nucleotide variant (3 prime UTR variant)	Alport syndrome	GUncertain significance
Select item 334649	NM_000092.5(COL4A4):c.*4102dup	COL4A4	Duplication (3 prime UTR variant)	Alport syndrome	GUncertain significance
Select item 897249	NM_000092.5(COL4A4):c.*4041A>G	COL4A4	Single nucleotide variant (3 prime UTR variant)	Alport syndrome	GUncertain significance
Select item 334650	NM_000092.5(COL4A4):c.4004_4005del	COL4A4	Deletion (3 prime UTR variant)	Alport syndrome	GUncertain significance
Select item 334651	NM_000092.5(COL4A4):c.*3948C>T	COL4A4	Single nucleotide variant (3 prime UTR variant)	Alport syndrome	GUncertain significance
Select item 334652	NM_000092.5(COL4A4):c.*3940T>C	COL4A4	Single nucleotide variant (3 prime UTR variant)	Alport syndrome	GUncertain significance
Select item 334653	NM_000092.5(COL4A4):c.*3938A>G	COL4A4	Single nucleotide variant (3 prime UTR variant)	Alport syndrome	GUncertain significance
Select item 334654	NM_000092.5(COL4A4):c.*3876G>A	COL4A4	Single nucleotide variant (3 prime UTR variant)	Alport syndrome	GUncertain significance
Select item 897250	NM_000092.5(COL4A4):c.*3791A>C	COL4A4	Single nucleotide variant (3 prime UTR variant)	Alport syndrome	GUncertain significance
Select item 334655	NM_000092.5(COL4A4):c.*3712T>G	COL4A4	Single nucleotide variant (3 prime UTR variant)	Alport syndrome	GUncertain significance
Select item 334656	NM_000092.5(COL4A4):c.*3690A>G	COL4A4	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 334657	NM_000092.5(COL4A4):c.*3639T>C	COL4A4	Single nucleotide variant (3 prime UTR variant)	Alport syndrome	GUncertain significance
Select item 334658	NM_000092.5(COL4A4):c.*3636C>T	COL4A4	Single nucleotide variant (3 prime UTR variant)	Alport syndrome	GLikely benign
Select item 334659	NM_000092.5(COL4A4):c.*3467C>G	COL4A4	Single nucleotide variant (3 prime UTR variant)	Alport syndrome	GUncertain significance
Select item 334660	NM_000092.5(COL4A4):c.*3461A>G	COL4A4	Single nucleotide variant (3 prime UTR variant)	Alport syndrome	GUncertain significance
Select item 334661	NM_000092.5(COL4A4):c.3410_3411del	COL4A4	Deletion (3 prime UTR variant)	Alport syndrome	GUncertain significance
Select item 898424	NM_000092.5(COL4A4):c.*3397T>C	COL4A4	Single nucleotide variant (3 prime UTR variant)	Alport syndrome	GUncertain significance
Select item 898425	NM_000092.5(COL4A4):c.*3354C>A	COL4A4	Single nucleotide variant (3 prime UTR variant)	Alport syndrome	GUncertain significance
Select item 334662	NM_000092.5(COL4A4):c.*3299A>G	COL4A4	Single nucleotide variant (3 prime UTR variant)	Alport syndrome	GUncertain significance
Select item 334663	NM_000092.5(COL4A4):c.*3269A>G	COL4A4	Single nucleotide variant (3 prime UTR variant)	Alport syndrome	GUncertain significance
Select item 334664	NM_000092.5(COL4A4):c.*3187G>A	COL4A4	Single nucleotide variant (3 prime UTR variant)	Alport syndrome +1 more	GBenign
Select item 334665	NM_000092.5(COL4A4):c.*3159C>A	COL4A4	Single nucleotide variant (3 prime UTR variant)	Alport syndrome	GUncertain significance
Select item 895431	NM_000092.5(COL4A4):c.*3156A>G	COL4A4	Single nucleotide variant (3 prime UTR variant)	Alport syndrome	GUncertain significance
Select item 895432	NM_000092.5(COL4A4):c.*2962A>G	COL4A4	Single nucleotide variant (3 prime UTR variant)	Kidney disorder +1 more	GUncertain significance
Select item 334666	NM_000092.5(COL4A4):c.*2945T>C	COL4A4	Single nucleotide variant (3 prime UTR variant)	Alport syndrome	GUncertain significance
Select item 895433	NM_000092.5(COL4A4):c.*2855C>T	COL4A4	Single nucleotide variant (3 prime UTR variant)	Alport syndrome	GUncertain significance
Select item 896830	NM_000092.5(COL4A4):c.*2849G>A	COL4A4	Single nucleotide variant (3 prime UTR variant)	Alport syndrome	GUncertain significance
Select item 896831	NM_000092.5(COL4A4):c.*2807T>G	COL4A4	Single nucleotide variant (3 prime UTR variant)	Alport syndrome	GUncertain significance
Select item 896832	NM_000092.5(COL4A4):c.*2732C>T	COL4A4	Single nucleotide variant (3 prime UTR variant)	Alport syndrome	GUncertain significance
Select item 896833	NM_000092.5(COL4A4):c.*2677T>G	COL4A4	Single nucleotide variant (3 prime UTR variant)	Alport syndrome	GUncertain significance
Select item 896834	NM_000092.5(COL4A4):c.*2647C>T	COL4A4	Single nucleotide variant (3 prime UTR variant)	Alport syndrome	GUncertain significance
Select item 896835	NM_000092.5(COL4A4):c.*2487C>A	COL4A4	Single nucleotide variant (3 prime UTR variant)	Alport syndrome	GUncertain significance
Select item 896836	NM_000092.5(COL4A4):c.*2422T>C	COL4A4	Single nucleotide variant (3 prime UTR variant)	Alport syndrome	GUncertain significance
Select item 334667	NM_000092.5(COL4A4):c.*2311C>T	COL4A4	Single nucleotide variant (3 prime UTR variant)	Alport syndrome	GLikely benign
Select item 897327	NM_000092.5(COL4A4):c.*2259G>C	COL4A4	Single nucleotide variant (3 prime UTR variant)	Alport syndrome	GUncertain significance
Select item 334668	NM_000092.5(COL4A4):c.*2259G>A	COL4A4	Single nucleotide variant (3 prime UTR variant)	Alport syndrome	GUncertain significance
Select item 897328	NM_000092.5(COL4A4):c.*2239T>C	COL4A4	Single nucleotide variant (3 prime UTR variant)	Alport syndrome	GLikely benign
Select item 334670	NM_000092.5(COL4A4):c.2119_2120dup	COL4A4	Duplication (3 prime UTR variant)	Alport syndrome	GUncertain significance
Select item 334669	NM_000092.5(COL4A4):c.*2120dup	COL4A4	Duplication (3 prime UTR variant)	Alport syndrome	GUncertain significance
Select item 334671	NM_000092.5(COL4A4):c.*2120del	COL4A4	Deletion (3 prime UTR variant)	Alport syndrome	GBenign
Select item 334672	NM_000092.5(COL4A4):c.*2069T>C	COL4A4	Single nucleotide variant (3 prime UTR variant)	Alport syndrome	GUncertain significance
Select item 334673	NM_000092.5(COL4A4):c.*2033G>A	COL4A4	Single nucleotide variant (3 prime UTR variant)	Alport syndrome	GUncertain significance
Select item 897329	NM_000092.5(COL4A4):c.*2021A>G	COL4A4	Single nucleotide variant (3 prime UTR variant)	Alport syndrome	GUncertain significance
Select item 897330	NM_000092.5(COL4A4):c.*1960C>A	COL4A4	Single nucleotide variant (3 prime UTR variant)	Alport syndrome	GUncertain significance
Select item 897331	NM_000092.5(COL4A4):c.*1930T>C	COL4A4	Single nucleotide variant (3 prime UTR variant)	Alport syndrome	GUncertain significance
Select item 334674	NM_000092.5(COL4A4):c.*1914A>T	COL4A4	Single nucleotide variant (3 prime UTR variant)	Alport syndrome	GUncertain significance
Select item 334675	NM_000092.5(COL4A4):c.*1802T>A	COL4A4	Single nucleotide variant (3 prime UTR variant)	Alport syndrome	GUncertain significance
Select item 334676	NM_000092.5(COL4A4):c.*1687T>G	COL4A4	Single nucleotide variant (3 prime UTR variant)	Alport syndrome	GUncertain significance
Select item 898487	NM_000092.5(COL4A4):c.*1465T>A	COL4A4	Single nucleotide variant (3 prime UTR variant)	Alport syndrome	GBenign
Select item 898488	NM_000092.5(COL4A4):c.*1464A>T	COL4A4	Single nucleotide variant (3 prime UTR variant)	Alport syndrome	GUncertain significance
Select item 334677	NM_000092.5(COL4A4):c.*1423T>C	COL4A4	Single nucleotide variant (3 prime UTR variant)	Alport syndrome	GUncertain significance
Select item 898489	NM_000092.5(COL4A4):c.*1397A>G	COL4A4	Single nucleotide variant (3 prime UTR variant)	Alport syndrome	GUncertain significance
Select item 334678	NM_000092.5(COL4A4):c.*1349A>C	COL4A4	Single nucleotide variant (3 prime UTR variant)	Alport syndrome	GUncertain significance
Select item 334679	NM_000092.5(COL4A4):c.*1346T>C	COL4A4	Single nucleotide variant (3 prime UTR variant)	Alport syndrome	GUncertain significance
Select item 895494	NM_000092.5(COL4A4):c.*1292A>T	COL4A4	Single nucleotide variant (3 prime UTR variant)	Alport syndrome	GUncertain significance
Select item 334680	NM_000092.5(COL4A4):c.*1242C>T	COL4A4	Single nucleotide variant (3 prime UTR variant)	Alport syndrome	GUncertain significance
Select item 895495	NM_000092.5(COL4A4):c.*1190G>A	COL4A4	Single nucleotide variant (3 prime UTR variant)	Alport syndrome	GUncertain significance
Select item 895496	NM_000092.5(COL4A4):c.*1173T>C	COL4A4	Single nucleotide variant (3 prime UTR variant)	Alport syndrome	GUncertain significance
Select item 895497	NM_000092.5(COL4A4):c.*1171C>T	COL4A4	Single nucleotide variant (3 prime UTR variant)	Alport syndrome	GUncertain significance
Select item 334681	NM_000092.5(COL4A4):c.*1112G>A	COL4A4	Single nucleotide variant (3 prime UTR variant)	Alport syndrome	GUncertain significance
Select item 334682	NM_000092.5(COL4A4):c.*1073del	COL4A4	Deletion (3 prime UTR variant)	Alport syndrome	GUncertain significance
Select item 895498	NM_000092.5(COL4A4):c.*1064G>C	COL4A4	Single nucleotide variant (3 prime UTR variant)	Alport syndrome	GUncertain significance
Select item 896896	NM_000092.5(COL4A4):c.*1026G>A	COL4A4	Single nucleotide variant (3 prime UTR variant)	Alport syndrome	GUncertain significance
Select item 896897	NM_000092.5(COL4A4):c.*931C>T	COL4A4	Single nucleotide variant (3 prime UTR variant)	Alport syndrome	GUncertain significance
Select item 896899	NM_000092.5(COL4A4):c.*888G>A	COL4A4	Single nucleotide variant (3 prime UTR variant)	Alport syndrome	GUncertain significance
Select item 896898	NM_000092.5(COL4A4):c.*888G>T	COL4A4	Single nucleotide variant (3 prime UTR variant)	Alport syndrome	GUncertain significance
Select item 896900	NM_000092.5(COL4A4):c.*883C>G	COL4A4	Single nucleotide variant (3 prime UTR variant)	Alport syndrome	GUncertain significance
Select item 334683	NM_000092.5(COL4A4):c.*864C>G	COL4A4	Single nucleotide variant (3 prime UTR variant)	Alport syndrome	GUncertain significance
Select item 334684	NM_000092.5(COL4A4):c.*863C>G	COL4A4	Single nucleotide variant (3 prime UTR variant)	Alport syndrome	GUncertain significance
Select item 896901	NM_000092.5(COL4A4):c.*859A>C	COL4A4	Single nucleotide variant (3 prime UTR variant)	Alport syndrome	GUncertain significance
Select item 334685	NM_000092.5(COL4A4):c.*857G>A	COL4A4	Single nucleotide variant (3 prime UTR variant)	Alport syndrome	GUncertain significance
Select item 334686	NM_000092.5(COL4A4):c.*841G>A	COL4A4	Single nucleotide variant (3 prime UTR variant)	Alport syndrome	GLikely benign

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