ClinVar for Gene (Select 55604) - ClinVar - NCBI

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Links from Gene

Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3137382	NM_017640.6(CARMIL1):c.1244C>A (p.Ser415Tyr)	CARMIL1 (S415Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062940	GRCh37/hg19 6p22.2(chr6:25560739-26008260)x3	CARMIL1, H2AC1 +7 more	Copy number gain	not specified	GUncertain significance
Select item 2685197	GRCh37/hg19 6p22.3-22.2(chr6:21704602-26187420)x1	ACOT13, ALDH5A1 +38 more	Copy number loss	not provided	GLikely pathogenic
Select item 2684444	GRCh37/hg19 6p22.2(chr6:25283123-25730027)x3	CARMIL1, H2AC1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 2408809	NM_017640.6(CARMIL1):c.2851A>G (p.Ile951Val)	CARMIL1 (I951V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359239	NM_017640.6(CARMIL1):c.2237C>T (p.Ala746Val)	CARMIL1 (A746V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250856	NM_017640.6(CARMIL1):c.3137G>A (p.Gly1046Asp)	CARMIL1 (G1046D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244196	NM_017640.6(CARMIL1):c.3328G>A (p.Asp1110Asn)	CARMIL1 (D1110N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236876	NM_017640.6(CARMIL1):c.10G>C (p.Glu4Gln)	CARMIL1 (E4Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527229	GRCh37/hg19 6p22.2(chr6:25409313-25470199)	CARMIL1	Copy number loss	not specified	GUncertain significance
Select item 984407	NM_017640.6(CARMIL1):c.3245G>A (p.Arg1082Gln)	CARMIL1 (R1082Q)	Single nucleotide variant (missense variant)	Sensorineural hearing loss disorder	GUncertain significance
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 149747	GRCh38/hg38 6p22.3-22.2(chr6:23252522-25967277)x1	ACOT13, ALDH5A1 +64 more	Copy number loss	See cases	GUncertain significance