ClinVar for Gene (Select 126806566) - ClinVar

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Links from Gene

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2843967	NM_001037131.3(AGAP1):c.169T>A (p.Phe57Ile)	AGAP1, LOC126806566 (F57I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2824143	NM_001037131.3(AGAP1):c.164-19G>C	AGAP1, LOC126806566	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2807572	NM_001037131.3(AGAP1):c.222+4A>G	AGAP1, LOC126806566	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2799008	NM_001037131.3(AGAP1):c.176A>G (p.Asn59Ser)	AGAP1, LOC126806566 (N59S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2729080	NM_001037131.3(AGAP1):c.222+20C>T	AGAP1, LOC126806566	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2367052	NM_001037131.3(AGAP1):c.203C>T (p.Ser68Phe)	AGAP1, LOC126806566 (S68F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320125	NM_001037131.3(AGAP1):c.218A>G (p.Lys73Arg)	AGAP1, LOC126806566 (K73R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2193917	NM_001037131.3(AGAP1):c.171C>T (p.Phe57=)	AGAP1, LOC126806566	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2100182	NM_001037131.3(AGAP1):c.164-14C>T	AGAP1, LOC126806566	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2078711	NM_001037131.3(AGAP1):c.164-11_164-9del	AGAP1, LOC126806566	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2040856	NM_001037131.3(AGAP1):c.209C>T (p.Pro70Leu)	AGAP1, LOC126806566 (P70L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2003469	NM_001037131.3(AGAP1):c.210G>A (p.Pro70=)	AGAP1, LOC126806566	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1976317	NM_001037131.3(AGAP1):c.165T>C (p.Asp55=)	AGAP1, LOC126806566	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1974346	NM_001037131.3(AGAP1):c.164-11C>G	LOC126806566, AGAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 161051	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	ACKR3, AGAP1 +455 more	Copy number loss	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC129935871, LOC129935872 +986 more	Copy number gain	See cases	GPathogenic
Select item 155004	GRCh38/hg38 2q37.2(chr2:235561704-235881137)x1	AGAP1, LOC110120691 +7 more	Copy number loss	See cases	GLikely benign
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	LOC129935343, LOC129935344 +1687 more	Copy number gain	See cases	GPathogenic
Select item 154186	GRCh38/hg38 2q37.1-37.3(chr2:234159653-241841232)x1	LOC132090688, LOC132090689 +325 more	Copy number loss	See cases	GPathogenic
Select item 148634	GRCh38/hg38 2q37.2(chr2:235629892-235908482)x1	AGAP1, LOC110120691 +5 more	Copy number loss	See cases	GUncertain significance
Select item 148337	GRCh38/hg38 2q37.1-37.3(chr2:234058757-239443690)x1	GBX2, GBX2-AS1 +180 more	Copy number loss	See cases	GPathogenic
Select item 147967	GRCh38/hg38 2q37.2-37.3(chr2:234835780-242065208)x1	ACKR3, AGAP1 +318 more	Copy number loss	See cases	GPathogenic
Select item 147844	GRCh38/hg38 2q37.2-37.3(chr2:235028429-242066108)x1	ACKR3, AGAP1 +314 more	Copy number loss	See cases	GPathogenic
Select item 147465	GRCh38/hg38 2q37.2-37.3(chr2:235603604-241771051)x1	ACKR3, AGAP1 +288 more	Copy number loss	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	LOC129935841, LOC129935842 +1148 more	Copy number gain	See cases	GPathogenic
Select item 144756	GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3	LOC129935973, LOC129935974 +576 more	Copy number gain	See cases	GPathogenic
Select item 59177	GRCh38/hg38 2q37.2-37.3(chr2:235563664-242086301)x3	ACKR3, AGAP1 +303 more	Copy number gain	See cases	GPathogenic
Select item 59176	GRCh38/hg38 2q37.2-37.3(chr2:235268768-242126245)x3	ACKR3, AGAP1 +311 more	Copy number gain	See cases	GPathogenic
Select item 59173	GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3	ACKR3, AGAP1 +630 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 58937	GRCh38/hg38 2q37.2(chr2:234731742-235717851)x3	AGAP1, AGAP1-IT1 +19 more	Copy number gain	See cases	GUncertain significance
Select item 58882	GRCh38/hg38 2q37.2-37.3(chr2:235268768-242065208)x1	ACKR3, AGAP1 +309 more	Copy number loss	See cases	GPathogenic
Select item 58880	GRCh38/hg38 2q37.1-37.3(chr2:234668159-242126245)x1	PRLH, PRR21 +325 more	Copy number loss	See cases	GPathogenic
Select item 58879	GRCh38/hg38 2q37.1-37.3(chr2:234172536-242086301)x1	LOC126806577, LOC126806578 +334 more	Copy number loss	See cases	GPathogenic
Select item 58852	GRCh38/hg38 2q37.1-37.3(chr2:233453611-242099155)x1	ACKR3, AGAP1 +359 more	Copy number loss	See cases	GPathogenic
Select item 58851	GRCh38/hg38 2q37.1-37.3(chr2:233420162-242086301)x1	LOC129935990, LOC129935991 +361 more	Copy number loss	See cases	GPathogenic
Select item 58847	GRCh38/hg38 2q36.3-37.3(chr2:226978129-236886599)x1	LOC126806566, LOC126806567 +393 more	Copy number loss	See cases	GPathogenic
Select item 57457	GRCh38/hg38 2q37.1-37.3(chr2:234345842-242126245)x1	HDAC4, HDAC4-AS1 +334 more	Copy number loss	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935480, LOC129935481 +1299 more	Copy number gain	See cases	GPathogenic
Select item 34724	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	LOC129935973, LOC129935974 +455 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 41