Related gene-specific medical variations for Gene (Select 54806) - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064191	NM_001134831.2(AHI1):c.1432T>C (p.Phe478Leu)	AHI1 (F478L)	Single nucleotide variant (missense variant)	Joubert syndrome 3	GUncertain significance
Select item 3010852	NM_001134831.2(AHI1):c.3166-9C>T	AHI1, LOC128669075	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 2900835	NM_001134831.2(AHI1):c.3166-13A>C	AHI1, LOC128669075	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 2865508	NM_001134831.2(AHI1):c.3166-12T>A	AHI1, LOC128669075	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 2862435	NM_001134831.2(AHI1):c.3166-17T>A	AHI1, LOC128669075	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 2852820	NM_001134831.2(AHI1):c.3166-5C>G	AHI1, LOC128669075	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 2838820	NM_001134831.2(AHI1):c.3166-7C>T	AHI1, LOC128669075	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 2716790	NM_001134831.2(AHI1):c.3166-14T>G	AHI1, LOC128669075	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 2710327	NM_001134831.2(AHI1):c.3166-16C>G	AHI1, LOC128669075	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 2442196	NM_001134831.2(AHI1):c.3140del (p.Asn1047fs)	AHI1 (N1047fs)	Deletion (frameshift variant)	Joubert syndrome 3	GLikely pathogenic
Select item 1527294	GRCh37/hg19 6q23.3(chr6:135711195-135740496)	AHI1	Copy number loss	not specified	GUncertain significance
Select item 1527292	GRCh37/hg19 6q23.3(chr6:135710693-135735779)	AHI1	Copy number loss	not specified	GLikely pathogenic
Select item 1322974	NM_001134831.2(AHI1):c.1094dup (p.Met365fs)	AHI1 (M365fs)	Duplication (frameshift variant)	Joubert syndrome 3	GLikely pathogenic
Select item 1322971	NM_001134831.2(AHI1):c.1369_1373del (p.Asp456_Glu457insTer)	AHI1	Deletion (nonsense)	Joubert syndrome 3	GPathogenic
Select item 1322966	NM_001134831.2(AHI1):c.1044C>A (p.Tyr348Ter)	AHI1 (Y348*)	Single nucleotide variant (nonsense)	Joubert syndrome 3	GPathogenic
Select item 1322964	NM_001134831.2(AHI1):c.313C>T (p.Gln105Ter)	AHI1 (Q105*)	Single nucleotide variant (nonsense)	Joubert syndrome 3	GPathogenic
Select item 1286564	NM_001134831.2(AHI1):c.3328+294A>G	AHI1, LOC129997222	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 975478	NM_001134831.2(AHI1):c.1270del (p.Ile424fs)	AHI1 (I424fs)	Deletion (frameshift variant)	Joubert syndrome 3	GLikely pathogenic
Select item 975476	NM_001134831.2(AHI1):c.439G>A (p.Glu147Lys)	AHI1 (E147K)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 814874	GRCh37/hg19 6q23.3(chr6:135780189-135868217)x1	AHI1	Copy number loss	not provided	GUncertain significance
Select item 814873	GRCh37/hg19 6q23.3(chr6:135710490-135740494)x1	AHI1	Copy number loss	not provided	GUncertain significance
Select item 809996	NM_001134831.2(AHI1):c.3109+6766A>G	AHI1 (T1045A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 689022	GRCh37/hg19 6q23.3(chr6:135711485-135735779)x1	AHI1	Copy number loss	not provided	GPathogenic
Select item 689012	GRCh37/hg19 6q23.3(chr6:135711485-135735779)x1	AHI1	Copy number loss	not provided	GUncertain significance
Select item 688749	GRCh37/hg19 6q23.3(chr6:135710693-135730886)x1	AHI1	Copy number loss	not provided	GUncertain significance
Select item 687865	GRCh37/hg19 6q23.3(chr6:135710693-135735779)x1	AHI1	Copy number loss	not provided	GPathogenic
Select item 687855	GRCh37/hg19 6q23.3(chr6:135721284-135730984)x1	AHI1	Copy number loss	not provided	GPathogenic
Select item 687854	GRCh37/hg19 6q23.3(chr6:135721284-135730984)x1	AHI1	Copy number loss	not provided	GPathogenic
Select item 686886	GRCh37/hg19 6q23.3(chr6:135811334-135898414)x3	AHI1	Copy number gain	not provided	GUncertain significance
Select item 685821	GRCh37/hg19 6q23.3(chr6:135711485-135735779)x1	AHI1	Copy number loss	not provided	GPathogenic
Select item 685813	GRCh37/hg19 6q23.3(chr6:135711267-135735779)x1	AHI1	Copy number loss	not provided	GUncertain significance
Select item 591683	NM_001134831.2(AHI1):c.1915T>C (p.Tyr639His)	AHI1 (Y639H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591268	NM_001134831.2(AHI1):c.3435_3438del (p.Asn1146fs)	AHI1 (N1146fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 445487	NM_001134831.2(AHI1):c.1803C>A (p.His601Gln)	AHI1 (H601Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 394567	GRCh37/hg19 6q23.3(chr6:135817826-135896996)x3	AHI1	Copy number gain	See cases	GUncertain significance
Select item 260860	NM_001134831.2(AHI1):c.399G>T (p.Val133=)	AHI1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 260837	NM_001134831.2(AHI1):c.135+41G>A	AHI1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 217550	NM_001134831.2(AHI1):c.1626+4_1626+5insTTAC	AHI1	Insertion (intron variant)	Joubert syndrome 3	GPathogenic
Select item 58830	GRCh38/hg38 6q23.3(chr6:135397890-135406717)x1	AHI1	Copy number loss	See cases	GUncertain significance

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Links from Gene

Items: 39